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1. Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance

Author

Jacquemin, Valerie, Versbraegen, Nassim, Duerinckx, Sarah, Massart, Annick, Soblet, Julie, Perazzolo, Camille, Deconinck, Nicolas, Brischoux-Boucher, Elise, De Leener, Anne, Revencu, Nicole, Janssens, Sandra, Moorgat, Stèphanie, Blaumeiser, Bettina, Avela, Kristiina, Touraine, Renaud, Abou Jaoude, Imad, Keymolen, Kathelijn, Saugier-Veber, Pascale, Lenaerts, Tom, Abramowicz, Marc, and Pirson, Isabelle

Published
2023
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2. Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Author

Van Den Bogaert, Kris, Lannoo, Lore, Brison, Nathalie, Gatinois, Vincent, Baetens, Machteld, Blaumeiser, Bettina, Boemer, François, Bourlard, Laura, Bours, Vincent, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Dheedene, Annelies, Duquenne, Armelle, Fieremans, Nathalie, Fieuw, Annelies, Gatot, Jean-Stéphane, Grisart, Bernard, Janssens, Katrien, Janssens, Sandra, Lederer, Damien, Marichal, Axel, Menten, Björn, Meunier, Colombine, Palmeira, Leonor, Pichon, Bruno, Sammels, Eva, Smits, Guillaume, Sznajer, Yves, Vantroys, Elise, Devriendt, Koenraad, and Vermeesch, Joris Robert

Published
2021
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3. Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development

Author

Guillemyn, Brecht, primary, De Saffel, Hanna, additional, Bek, Jan Willem, additional, Tapaneeyaphan, Piyanoot, additional, De Clercq, Adelbert, additional, Jarayseh, Tamara, additional, Debaenst, Sophie, additional, Willaert, Andy, additional, De Rycke, Riet, additional, Byers, Peter H., additional, Rosseel, Toon, additional, Coucke, Paul, additional, Blaumeiser, Bettina, additional, Syx, Delfien, additional, Malfait, Fransiska, additional, and Symoens, Sofie, additional

Published
2023
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4. Genome-Wide MicroRNA Analysis Implicates miR-30b/d in the Etiology of Alopecia Areata

Author

Tafazzoli, Aylar, Forstner, Andreas J., Broadley, David, Hofmann, Andrea, Redler, Silke, Petukhova, Lynn, Giehl, Kathrin A., Kruse, Roland, Blaumeiser, Bettina, Böhm, Markus, Bertolini, Marta, Rossi, Alfredo, Garcia Bartels, Natalie, Lutz, Gerhard, Wolff, Hans, Blume-Peytavi, Ulrike, Soreq, Hermona, Christiano, Angela M., Botchkareva, Natalia V., Nöthen, Markus M., and Betz, Regina C.

Published
2018
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5. Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles

Author

Parijs, Ilse, primary, Brison, Nathalie, additional, Vancoillie, Leen, additional, Baetens, Machteld, additional, Blaumeiser, Bettina, additional, Boulanger, Sébastien, additional, Désir, Julie, additional, Dimitrov, Boyan, additional, Fieremans, Nathalie, additional, Janssens, Katrien, additional, Janssens, Sandra, additional, Marichal, Axel, additional, Menten, Björn, additional, Meunier, Colombine, additional, Van Berkel, Kim, additional, Van Den Bogaert, Ann, additional, Devriendt, Koenraad, additional, Van Den Bogaert, Kris, additional, and Vermeesch, Joris Robert, additional

Published
2023
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7. Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges

Author

Vanakker, Olivier, Vilain, Catheline, Janssens, Katrien, Van der Aa, Nathalie, Smits, Guillaume, Bandelier, Claude, Blaumeiser, Bettina, Bulk, Saskia, Caberg, Jean-Hubert, De Leener, Anne, De Rademaeker, Marjan, de Ravel, Thomy, Desir, Julie, Destree, Anne, Dheedene, Annelies, Gaillez, Stéphane, Grisart, Bernard, Hellin, Ann-Cécile, Janssens, Sandra, Keymolen, Kathelijn, Menten, Björn, Pichon, Bruno, Ravoet, Marie, Revencu, Nicole, Rombout, Sonia, Staessens, Catherine, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vermeesch, Joris R., Kooy, Frank, Sznajer, Yves, and Devriendt, Koen

Published
2014
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8. Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals

Author

Basmanav, F. Buket, Cesarato, Nicole, Kumar, Sheetal, Borisov, Oleg, Kokordelis, Pavlos, Ralser, Damian J., Wehner, Maria, Axt, Daisy, Xiong, Xing, Thiele, Holger, Dolgin, Vadim, Gossmann, Yasmina, Fricker, Nadine, Dewenter, Malin Katharina, Weller, Karsten, Suri, Mohnish, Reichenbach, Herbert, Oji, Vinzenz, Addor, Marie-Claude, Ramirez, Karla, Stewart, Helen, Bartels, Natalie Garcia, Weibel, Lisa, Wagner, Nicola, George, Susannah, Kilic, Arzu, Tantcheva-Poor, Iliana, Stewart, Alison, Dikow, Nicola, Blaumeiser, Bettina, Medvecz, Marta, Blume-Peytavi, Ulrike, Farrant, Paul, Grimalt, Ramon, Bertok, Sara, Bradley, Lisa, Eskin-Schwartz, Marina, Birk, Ohad Samuel, Bygum, Anette, Simon, Michel, Krawitz, Peter, Fischer, Christine, Hamm, Henning, Fritz, Gunter, Betz, Regina C., Basmanav, F. Buket, Cesarato, Nicole, Kumar, Sheetal, Borisov, Oleg, Kokordelis, Pavlos, Ralser, Damian J., Wehner, Maria, Axt, Daisy, Xiong, Xing, Thiele, Holger, Dolgin, Vadim, Gossmann, Yasmina, Fricker, Nadine, Dewenter, Malin Katharina, Weller, Karsten, Suri, Mohnish, Reichenbach, Herbert, Oji, Vinzenz, Addor, Marie-Claude, Ramirez, Karla, Stewart, Helen, Bartels, Natalie Garcia, Weibel, Lisa, Wagner, Nicola, George, Susannah, Kilic, Arzu, Tantcheva-Poor, Iliana, Stewart, Alison, Dikow, Nicola, Blaumeiser, Bettina, Medvecz, Marta, Blume-Peytavi, Ulrike, Farrant, Paul, Grimalt, Ramon, Bertok, Sara, Bradley, Lisa, Eskin-Schwartz, Marina, Birk, Ohad Samuel, Bygum, Anette, Simon, Michel, Krawitz, Peter, Fischer, Christine, Hamm, Henning, Fritz, Gunter, and Betz, Regina C.

Abstract

Importance Uncombable hair syndrome (UHS) is a rare hair shaft anomaly that manifests during infancy and is characterized by dry, frizzy, and wiry hair that cannot be combed flat. Only about 100 known cases have been reported so far. Objective To elucidate the genetic spectrum of UHS. Design, Setting, and Participants This cohort study includes 107 unrelated index patients with a suspected diagnosis of UHS and family members who were recruited worldwide from January 2013 to December 2021. Participants of all ages, races, and ethnicities were recruited at referral centers or were enrolled on their own initiative following personal contact with the authors. Genetic analyses were conducted in Germany from January 2014 to December 2021. Main Outcomes and Measures Clinical photographs, Sanger or whole-exome sequencing and array-based genotyping of DNA extracted from blood or saliva samples, and 3-dimensional protein modeling. Descriptive statistics, such as frequency counts, were used to describe the distribution of identified pathogenic variants and genotypes. Results The genetic characteristics of patients with UHS were established in 80 of 107 (74.8%) index patients (82 [76.6%] female) who carried biallelic pathogenic variants in PADI3, TGM3, or TCHH (ie, genes that encode functionally related hair shaft proteins). Molecular genetic findings from 11 of these 80 individuals were previously published. In 76 (71.0%) individuals, the UHS phenotype were associated with pathogenic variants in PADI3. The 2 most commonly observed PADI3 variants account for 73 (48.0%) and 57 (37.5%) of the 152 variant PADI3 alleles in total, respectively. Two individuals carried pathogenic variants in TGM3, and 2 others carried pathogenic variants in TCHH. Haplotype analyses suggested a founder effect for the 4 most commonly observed pathogenic variants in the PADI3 gene. Conclusions and Relevance This cohort study extends and gives an overview of the genetic variant spectrum of UHS based on m

Published
2022

11. Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts

Author

Marangoni, Martina, primary, Smits, Guillaume, additional, Ceysens, Gilles, additional, Costa, Elena, additional, Coulon, Robert, additional, Daelemans, Caroline, additional, De Coninck, Caroline, additional, Derisbourg, Sara, additional, Gajewska, Kalina, additional, Garofalo, Giulia, additional, Gounongbe, Caroline, additional, Guizani, Meriem, additional, Holoye, Anne, additional, Houba, Catherine, additional, Makhoul, Jean, additional, Norgaard, Christian, additional, Regnard, Cecile, additional, Romée, Stephanie, additional, Soto, Jamil, additional, Stagel-Trabbia, Aurore, additional, Van Rysselberge, Michel, additional, Vercoutere, An, additional, Zaytouni, Siham, additional, Bouri, Sarah, additional, D'Haene, Nicky, additional, D'Onle, Dominique, additional, Dugauquier, Christian, additional, Racu, Marie-Lucie, additional, Rocq, Laureen, additional, Segers, Valérie, additional, Verocq, Camille, additional, Avni, Ephraim Freddy, additional, Cassart, Marie, additional, Massez, Anne, additional, Blaumeiser, Bettina, additional, Brischoux-Boucher, Elise, additional, Bulk, Saskia, additional, De Ravel, Thomy, additional, Debray, Guillaume, additional, Dimitrov, Boyan, additional, Janssens, Sandra, additional, Keymolen, Kathelijn, additional, Laterre, Marie, additional, van Berkel, Kim, additional, Van Maldergem, Lionel, additional, Vandernoot, Isabelle, additional, Vilain, Catheline, additional, Donner, Catherine, additional, Tecco, Laura, additional, Thomas, Dominique, additional, Désir, Julie, additional, Abramowicz, Marc, additional, and Migeotte, Isabelle, additional

Published
2022
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12. Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients

Author

Wieme, Greet, primary, Kral, Jan, additional, Rosseel, Toon, additional, Zemankova, Petra, additional, Parton, Bram, additional, Vocka, Michal, additional, Van Heetvelde, Mattias, additional, Kleiblova, Petra, additional, Blaumeiser, Bettina, additional, Soukupova, Jana, additional, van den Ende, Jenneke, additional, Nehasil, Petr, additional, Tejpar, Sabine, additional, Borecka, Marianna, additional, Gómez García, Encarna B., additional, Blok, Marinus J., additional, Safarikova, Marketa, additional, Kalousova, Marta, additional, Geboes, Karen, additional, De Putter, Robin, additional, Poppe, Bruce, additional, De Leeneer, Kim, additional, Kleibl, Zdenek, additional, Janatova, Marketa, additional, and Claes, Kathleen B. M., additional

Published
2021
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13. Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

Author

Duerinckx, Sarah, primary, Désir, Julie, additional, Perazzolo, Camille, additional, Badoer, Cindy, additional, Jacquemin, Valérie, additional, Soblet, Julie, additional, Maystadt, Isabelle, additional, Tunca, Yusuf, additional, Blaumeiser, Bettina, additional, Ceulemans, Berten, additional, Courtens, Winnie, additional, Debray, François‐Guillaume, additional, Destree, Anne, additional, Devriendt, Koenraad, additional, Jansen, Anna, additional, Keymolen, Kathelijn, additional, Lederer, Damien, additional, Loeys, Bart, additional, Meuwissen, Marije, additional, Moortgat, Stéphanie, additional, Mortier, Geert, additional, Nassogne, Marie‐Cécile, additional, Sekhara, Tayeb, additional, Van Coster, Rudy, additional, Van Den Ende, Jenny, additional, Van der Aa, Nathalie, additional, Van Esch, Hilde, additional, Vanakker, Olivier, additional, Verhelst, Helene, additional, Vilain, Catheline, additional, Weckhuysen, Sarah, additional, Passemard, Sandrine, additional, Verloes, Alain, additional, Aeby, Alec, additional, Deconinck, Nicolas, additional, Van Bogaert, Patrick, additional, Pirson, Isabelle, additional, and Abramowicz, Marc, additional

Published
2021
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16. Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.

Author

UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service d'oto-rhino-laryngologie, van Riel, Margot, Brison, Nathalie, Baetens, Machteld, Blaumeiser, Bettina, Boemer, François, Bourlard, Laura, Bulk, Saskia, De Leener, Anne, Désir, Julie, Devriendt, Koenraad, Dheedene, Annelies, Duquenne, Armelle, Fieremans, Nathalie, Fieuw, Annelies, Gatot, Jean-Stéphane, Grisart, Bernard, Janssens, Sandra, Khudashvili, Naïri, Lannoo, Lore, Marichal, Axel, Meunier, Colombine, Palmeira, Leonor, Parijs, Ilse, Pichon, Bruno, Roets, Ellen, Sammels, Eva, Smits, Guillaume, Suenaert, Marion, Sznajer, Yves, Van den Bogaert, Kris, Vancoillie, Leen, Vandeputte, Lotte, Vantroys, Elise, Vermeesch, Joris Robert, Janssens, Katrien, UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service d'oto-rhino-laryngologie, van Riel, Margot, Brison, Nathalie, Baetens, Machteld, Blaumeiser, Bettina, Boemer, François, Bourlard, Laura, Bulk, Saskia, De Leener, Anne, Désir, Julie, Devriendt, Koenraad, Dheedene, Annelies, Duquenne, Armelle, Fieremans, Nathalie, Fieuw, Annelies, Gatot, Jean-Stéphane, Grisart, Bernard, Janssens, Sandra, Khudashvili, Naïri, Lannoo, Lore, Marichal, Axel, Meunier, Colombine, Palmeira, Leonor, Parijs, Ilse, Pichon, Bruno, Roets, Ellen, Sammels, Eva, Smits, Guillaume, Suenaert, Marion, Sznajer, Yves, Van den Bogaert, Kris, Vancoillie, Leen, Vandeputte, Lotte, Vantroys, Elise, Vermeesch, Joris Robert, and Janssens, Katrien

Abstract

To evaluate the accuracy and diagnostic value of genome-wide noninvasive prenatal testing (NIPT) for the detection of fetal aneuploidies in multiple gestations, with a focus on dichorionic-diamniotic twin pregnancies. We performed a retrospective cohort study including data from pregnant women with a twin or higher-order gestation who underwent genome-wide NIPT at one of the eight Belgian genetic centers between November 1, 2013, and March 1, 2020. Chorionicity and amnionicity were determined by ultrasonography. Follow-up invasive testing was carried out in the event of positive NIPT results. Sensitivity and specificity were calculated for the detection of trisomy 21, 18, and 13 in the dichorionic-diamniotic twin cohort. Unique NIPT analyses were performed for 4,150 pregnant women with a multiple gestation and an additional 767 with vanishing gestations. The failure rate in multiple gestations excluding vanishing gestations ranged from 0% to 11.7% among the different genetic centers. Overall, the failure rate was 4.8%, which could be reduced to 1.2% after single resampling. There were no common fetal trisomies detected among the 86 monochorionic-monoamniotic and 25 triplet cases. Two monochorionic-diamniotic twins had an NIPT result indicative of a trisomy 21, which was confirmed in both fetuses. Among 2,716 dichorionic-diamniotic twin gestations, a sensitivity of 100% (95% CI 74.12-100%) and a specificity of 100% (95% CI 99.86-100%) was reached for trisomy 21 (n=12). For trisomy 18 (n=3), the respective values were 75% (95% CI 30.06-95.44%) sensitivity and 100% (95% CI 99.86-100%) specificity, and for trisomy 13 (n=2), 100% (95% CI 20.65-100%) sensitivity and 99.96% (95% CI 99.79-99.99%) specificity. In the vanishing gestation group, 28 NIPT results were positive for trisomy 21, 18, or 13, with only five confirmed trisomies. Genome-wide NIPT performed accurately for detection of aneuploidy in dichorionic-diamniotic twin gestations.

Published
2021

17. Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.

Author

UCL - (SLuc) Service de neurologie pédiatrique, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - (SLuc) Centre de référence en lésions congénitales de la moëlle épinière, UCL - (SLuc) Centre de référence pour l'épilepsie réfractaire, Duerinckx, Sarah, Désir, Julie, Perazzolo, Camille, Badoer, Cindy, Jacquemin, Valérie, Soblet, Julie, Maystadt, Isabelle, Tunca, Yusuf, Blaumeiser, Bettina, Ceulemans, Berten, Courtens, Winnie, Debray, François-Guillaume, Destree, Anne, Devriendt, Koenraad, Jansen, Anna, Keymolen, Kathelijn, Lederer, Damien, Loeys, Bart, Meuwissen, Marije, Moortgat, Stéphanie, Mortier, Geert, Nassogne, Marie-Cécile, Sekhara, Tayeb, Van Coster, Rudy, Van Den Ende, Jenny, Van der Aa, Nathalie, Van Esch, Hilde, Vanakker, Olivier, Verhelst, Helene, Vilain, Catheline, Weckhuysen, Sarah, Passemard, Sandrine, Verloes, Alain, Aeby, Alec, Deconinck, Nicolas, Van Bogaert, Patrick, Pirson, Isabelle, Abramowicz, Marc, UCL - (SLuc) Service de neurologie pédiatrique, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - (SLuc) Centre de référence en lésions congénitales de la moëlle épinière, UCL - (SLuc) Centre de référence pour l'épilepsie réfractaire, Duerinckx, Sarah, Désir, Julie, Perazzolo, Camille, Badoer, Cindy, Jacquemin, Valérie, Soblet, Julie, Maystadt, Isabelle, Tunca, Yusuf, Blaumeiser, Bettina, Ceulemans, Berten, Courtens, Winnie, Debray, François-Guillaume, Destree, Anne, Devriendt, Koenraad, Jansen, Anna, Keymolen, Kathelijn, Lederer, Damien, Loeys, Bart, Meuwissen, Marije, Moortgat, Stéphanie, Mortier, Geert, Nassogne, Marie-Cécile, Sekhara, Tayeb, Van Coster, Rudy, Van Den Ende, Jenny, Van der Aa, Nathalie, Van Esch, Hilde, Vanakker, Olivier, Verhelst, Helene, Vilain, Catheline, Weckhuysen, Sarah, Passemard, Sandrine, Verloes, Alain, Aeby, Alec, Deconinck, Nicolas, Van Bogaert, Patrick, Pirson, Isabelle, and Abramowicz, Marc

Abstract

Primary microcephaly (PM) is defined as a significant reduction in occipitofrontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge. We performed detailed phenotypic and genomic analyses in a large cohort (n = 169) of patients referred for PM and could establish a molecular diagnosis in 38 patients. Pathogenic variants in ASPM and WDR62 were the most frequent causes in non-consanguineous patients in our cohort. In consanguineous patients, microarray and targeted gene panel analyses reached a diagnostic yield of 67%, which contrasts with a much lower rate in non-consanguineous patients (9%). Our series includes 11 novel pathogenic variants and we identify novel candidate genes including IGF2BP3 and DNAH2. We confirm the progression of microcephaly over time in affected children. Epilepsy was an important associated feature in our PM cohort, affecting 34% of patients with a molecular confirmation of the PM diagnosis, with various degrees of severity and seizure types. Our findings will help to prioritize genomic investigations, accelerate molecular diagnoses, and improve the management of PM patients.

Published
2021

18. Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.

Author

UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, Van Den Bogaert, Kris, Lannoo, Lore, Brison, Nathalie, Gatinois, Vincent, Baetens, Machteld, Blaumeiser, Bettina, Boemer, François, Bourlard, Laura, Bours, Vincent, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Dheedene, Annelies, Duquenne, Armelle, Fieremans, Nathalie, Fieuw, Annelies, Gatot, Jean-Stéphane, Grisart, Bernard, Janssens, Katrien, Janssens, Sandra, Lederer, Damien, Marichal, Axel, Menten, Björn, Meunier, Colombine, Palmeira, Leonor, Pichon, Bruno, Sammels, Eva, Smits, Guillaume, Sznajer, Yves, Vantroys, Elise, Devriendt, Koenraad, Vermeesch, Joris Robert, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, Van Den Bogaert, Kris, Lannoo, Lore, Brison, Nathalie, Gatinois, Vincent, Baetens, Machteld, Blaumeiser, Bettina, Boemer, François, Bourlard, Laura, Bours, Vincent, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Dheedene, Annelies, Duquenne, Armelle, Fieremans, Nathalie, Fieuw, Annelies, Gatot, Jean-Stéphane, Grisart, Bernard, Janssens, Katrien, Janssens, Sandra, Lederer, Damien, Marichal, Axel, Menten, Björn, Meunier, Colombine, Palmeira, Leonor, Pichon, Bruno, Sammels, Eva, Smits, Guillaume, Sznajer, Yves, Vantroys, Elise, Devriendt, Koenraad, and Vermeesch, Joris Robert

Abstract

Noninvasive prenatal screening (NIPS) using cell-free DNA has transformed prenatal care. Belgium was the first country to implement and fully reimburse NIPS as a first-tier screening test offered to all pregnant women. A consortium consisting of all Belgian genetic centers report the outcome of two years genome-wide NIPS implementation. The performance for the common trisomies and for secondary findings was evaluated based on 153,575 genome-wide NIP tests. Furthermore, the evolution of the number of invasive tests and the incidence of Down syndrome live births was registered. Trisomies 21, 18, and 13 were detected in respectively 0.32%, 0.07%, and 0.06% of cases, with overall positive predictive values (PPVs) of 92.4%, 84.6%, and 43.9%. Rare autosomal trisomies and fetal segmental imbalances were detected in respectively 0.23% and 0.07% of cases with PPVs of 4.1% and 47%. The number of invasive obstetric procedures decreased by 52%. The number of trisomy 21 live births dropped to 0.04%. Expanding the scope of NIPS beyond trisomy 21 fetal screening allows the implementation of personalized genomic medicine for the obstetric population. This genome-wide NIPS approach has been embedded successfully in prenatal genetic care in Belgium and might serve as a framework for other countries offering NIPS.

Published
2021

19. Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.

Author

Marangoni, Martina, Smits, Guillaume, Ceysens, Gilles, Costa, Elena, Coulon, Robert, Daelemans, Caroline, De Coninck, Caroline, Derisbourg, Sara, Gajewska, Kalina, Garofalo, Giulia, Gounongbe, Caroline, Guizani, Meriem, Holoye, Anne, Houba, Catherine, Makhoul, Jean, Norgaard, Christian, Regnard, Cecile, Romée, Stephanie, Soto, Jamil, Stagel-Trabbia, Aurore, Van Rysselberge, Michel, Vercoutere, An, Zaytouni, Siham, Bouri, Sarah, D'Haene, Nicky, D'Onle, Dominique, Dugauquier, Christian, Racu, Marie-Lucie, Rocq, Laureen, Segers, Valérie, Verocq, Camille, Avni, Ephraïm Freddy, Cassart, Marie, Massez, Anne, Blaumeiser, Bettina, Brischoux-Boucher, Elise, Bulk, Saskia, De Ravel, Thomy, Debray, Francois-Guillaume, Dimitrov, Boyan, Janssens, Sandra, Keymolen, Kathelijn, Laterre, Marie, van Berkel, Kim, Van Maldergem, Lionel, Vandernoot, Isabelle, Vilain, Catheline, donner, catherine, Tecco, Laura, Thomas, Dominique, Désir, Julie, Abramowicz, Marc, Migeotte, Isabelle, Marangoni, Martina, Smits, Guillaume, Ceysens, Gilles, Costa, Elena, Coulon, Robert, Daelemans, Caroline, De Coninck, Caroline, Derisbourg, Sara, Gajewska, Kalina, Garofalo, Giulia, Gounongbe, Caroline, Guizani, Meriem, Holoye, Anne, Houba, Catherine, Makhoul, Jean, Norgaard, Christian, Regnard, Cecile, Romée, Stephanie, Soto, Jamil, Stagel-Trabbia, Aurore, Van Rysselberge, Michel, Vercoutere, An, Zaytouni, Siham, Bouri, Sarah, D'Haene, Nicky, D'Onle, Dominique, Dugauquier, Christian, Racu, Marie-Lucie, Rocq, Laureen, Segers, Valérie, Verocq, Camille, Avni, Ephraïm Freddy, Cassart, Marie, Massez, Anne, Blaumeiser, Bettina, Brischoux-Boucher, Elise, Bulk, Saskia, De Ravel, Thomy, Debray, Francois-Guillaume, Dimitrov, Boyan, Janssens, Sandra, Keymolen, Kathelijn, Laterre, Marie, van Berkel, Kim, Van Maldergem, Lionel, Vandernoot, Isabelle, Vilain, Catheline, donner, catherine, Tecco, Laura, Thomas, Dominique, Désir, Julie, Abramowicz, Marc, and Migeotte, Isabelle

Abstract

We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective and retrospective cohorts of pregnancies presenting with anomalies detected using ultrasound. We evaluated factors that led to a higher diagnostic efficiency, such as phenotypic category, clinical characterization, and variant analysis strategy., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2021

20. Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

Author

Duerinckx, Sarah, Désir, Julie, Perazzolo, Camille, Badoer, Cindy, Jacquemin, Valérie, Soblet, Julie, Maystadt, Isabelle, Tunca, Yusuf, Blaumeiser, Bettina, Ceulemans, Berten, Courtens, Winnie, Debray, Francois-Guillaume, Donckier De Donceel, Annette, Devriendt, Koenraad, Jansen, Anna C M A.C., Keymolen, Kathelijn, Lederer, Damien, Loeys, Bart, Meuwissen, Marije E C, Moortgat, Stephanie, Mortier, Geert, Nassogne, Marie-Cécile, Sekhara, Tayeb, Van Coster, Rudy, Van Den Ende, Jenny, Van Der Aa, Nathalie, Van Esch, Hilde, Vanakker, Olivier, Verhelst, Hélène, Vilain, Catheline, Weckhuysen, Sarah, Passemard, Sandrine, Verloes, Alain, Aeby, Alec, Deconinck, Nicolas, Van Bogaert, Patrick, Pirson, Isabelle, Abramowicz, Marc, Duerinckx, Sarah, Désir, Julie, Perazzolo, Camille, Badoer, Cindy, Jacquemin, Valérie, Soblet, Julie, Maystadt, Isabelle, Tunca, Yusuf, Blaumeiser, Bettina, Ceulemans, Berten, Courtens, Winnie, Debray, Francois-Guillaume, Donckier De Donceel, Annette, Devriendt, Koenraad, Jansen, Anna C M A.C., Keymolen, Kathelijn, Lederer, Damien, Loeys, Bart, Meuwissen, Marije E C, Moortgat, Stephanie, Mortier, Geert, Nassogne, Marie-Cécile, Sekhara, Tayeb, Van Coster, Rudy, Van Den Ende, Jenny, Van Der Aa, Nathalie, Van Esch, Hilde, Vanakker, Olivier, Verhelst, Hélène, Vilain, Catheline, Weckhuysen, Sarah, Passemard, Sandrine, Verloes, Alain, Aeby, Alec, Deconinck, Nicolas, Van Bogaert, Patrick, Pirson, Isabelle, and Abramowicz, Marc

Abstract

Background: Primary microcephaly (PM) is defined as a significant reduction in occipitofrontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge. Methods: We performed detailed phenotypic and genomic analyses in a large cohort (n = 169) of patients referred for PM and could establish a molecular diagnosis in 38 patients. Results: Pathogenic variants in ASPM and WDR62 were the most frequent causes in non-consanguineous patients in our cohort. In consanguineous patients, microarray and targeted gene panel analyses reached a diagnostic yield of 67%, which contrasts with a much lower rate in non-consanguineous patients (9%). Our series includes 11 novel pathogenic variants and we identify novel candidate genes including IGF2BP3 and DNAH2. We confirm the progression of microcephaly over time in affected children. Epilepsy was an important associated feature in our PM cohort, affecting 34% of patients with a molecular confirmation of the PM diagnosis, with various degrees of severity and seizure types. Conclusion: Our findings will help to prioritize genomic investigations, accelerate molecular diagnoses, and improve the management of PM patients., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2021

21. Prenatally detected copy number variants in a national cohort: A postnatal follow-up study.

Author

UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, Muys, Joke, Jacquemyn, Yves, Blaumeiser, Bettina, Bourlard, Laura, Brison, Nathalie, Bulk, Saskia, Chiarappa, Patrizia, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Destrée, Anne, Devriendt, Koenraad, Dheedene, Annelies, Duquenne, Armelle, Fieuw, Annelies, Fransen, Erik, Gatot, Jean-Stéphane, Jamar, Mauricette, Janssens, Sandra, Kerstjens, Jorien, Keymolen, Kathelijn, Lederer, Damien, Menten, Björn, Pichon, Bruno, Rombout, Sonia, Sznajer, Yves, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vermeesch, Joris, Janssens, Katrien, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, Muys, Joke, Jacquemyn, Yves, Blaumeiser, Bettina, Bourlard, Laura, Brison, Nathalie, Bulk, Saskia, Chiarappa, Patrizia, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Destrée, Anne, Devriendt, Koenraad, Dheedene, Annelies, Duquenne, Armelle, Fieuw, Annelies, Fransen, Erik, Gatot, Jean-Stéphane, Jamar, Mauricette, Janssens, Sandra, Kerstjens, Jorien, Keymolen, Kathelijn, Lederer, Damien, Menten, Björn, Pichon, Bruno, Rombout, Sonia, Sznajer, Yves, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vermeesch, Joris, and Janssens, Katrien

Abstract

OBJECTIVE: Belgian genetic centers established a database containing data on all chromosomal microarrays performed in a prenatal context. A study was initiated to evaluate postnatal development in children diagnosed prenatally with a non-benign copy number variant (CNV). METHODS: All children diagnosed with a prenatally detected non-benign CNV in a Belgian genetic center between May 2013 and February 2015 were included in the patient population. The control population consisted of children who had undergone an invasive procedure during pregnancy, with no or only benign CNVs. Child development was evaluated at 36 months using three (3) questionnaires: Ages and Stages Questionnaire Third edition, Ages and Stages Questionnaire Social-Emotional Second Edition and a general questionnaire. RESULTS: A significant difference in communication and personal-social development was detected between children with a reported susceptibility CNV and both children with an unreported susceptibility CNV and the control population. The outcome of children with a particular CNV is discussed in a case-by-case manner. CONCLUSION: Our postnatal follow-up project of children with a prenatally detected non-benign CNV is the first nationwide project of its kind. A higher number of cases for each CNV category is however needed to confirm our findings.

Published
2020

22. Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia

Author

Hillmer, Axel M., Hanneken, Sandra, Ritzmann, Sibylle, Becker, Tim, Freudenberg, Jan, Brockschmidt, Felix F., Flaquer, Antonia, Freudenberg-Hua, Yun, Jamra, Rami Abou, Metzen, Christine, Heyn, Uwe, Schweiger, Nadine, Betz, Regina C., Blaumeiser, Bettina, Hampe, Jochen, Schreiber, Stefan, Schulze, Thomas G., Hennies, Hans Christian, Schumacher, Johannes, Propping, Peter, Ruzicka, Thomas, Cichon, Sven, Wienker, Thomas F., Kruse, Roland, and Nothen, Markus M.

Subjects
Baldness -- Research, Baldness -- Genetic aspects, Alopecia -- Research, Alopecia -- Genetic aspects, Human genetics -- Research, Biological sciences
Published
2005

23. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Author

Jacquemont, Sébastien, Reymond, Alexandre, Zufferey, Flore, Harewood, Louise, Walters, Robin G., Kutalik, Zoltán, Martinet, Danielle, Shen, Yiping, Valsesia, Armand, Beckmann, Noam D., Thorleifsson, Gudmar, Belfiore, Marco, Bouquillon, Sonia, Campion, Dominique, de Leeuw, Nicole, de Vries, Bert B. A., Esko, Tõnu, Fernandez, Bridget A., Fernández-Aranda, Fernando, Fernández-Real, José Manuel, Gratacòs, Mònica, Guilmatre, Audrey, Hoyer, Juliane, Jarvelin, Marjo-Riitta, Kooy, Frank R., Kurg, Ants, Le Caignec, Cédric, Männik, Katrin, Platt, Orah S., Sanlaville, Damien, Van Haelst, Mieke M., Gomez, Sergi Villatoro, Walha, Faida, Wu, Bai-lin, Yu, Yongguo, Aboura, Azzedine, Addor, Marie-Claude, Alembik, Yves, Antonarakis, Stylianos E., Arveiler, Benoît, Barth, Magalie, Bednarek, Nathalie, Béna, Frédérique, Bergmann, Sven, Beri, Mylène, Bernardini, Laura, Blaumeiser, Bettina, Bonneau, Dominique, Bottani, Armand, Boute, Odile, Brunner, Han G., Cailley, Dorothée, Callier, Patrick, Chiesa, Jean, Chrast, Jacqueline, Coin, Lachlan, Coutton, Charles, Cuisset, Jean-Marie, Cuvellier, Jean-Christophe, David, Albert, de Freminville, Bénédicte, Delobel, Bruno, Delrue, Marie-Ange, Demeer, Bénédicte, Descamps, Dominique, Didelot, Gérard, Dieterich, Klaus, Disciglio, Vittoria, Doco-Fenzy, Martine, Drunat, Séverine, Duban-Bedu, Bénédicte, Dubourg, Christèle, Moustafa, Julia S. El-Sayed, Elliott, Paul, Faas, Brigitte H. W., Faivre, Laurence, Faudet, Anne, Fellmann, Florence, Ferrarini, Alessandra, Fisher, Richard, Flori, Elisabeth, Forer, Lukas, Gaillard, Dominique, Gerard, Marion, Gieger, Christian, Gimelli, Stefania, Gimelli, Giorgio, Grabe, Hans J., Guichet, Agnès, Guillin, Olivier, Hartikainen, Anna-Liisa, Heron, Délphine, Hippolyte, Loyse, Holder, Muriel, Homuth, Georg, Isidor, Bertrand, Jaillard, Sylvie, Jaros, Zdenek, Jiménez-Murcia, Susana, Helas, Géraldine Joly, Jonveaux, Philippe, Kaksonen, Satu, Keren, Boris, Kloss-Brandstätter, Anita, Knoers, Nine V. A. M., Koolen, David A., Kroisel, Peter M., Kronenberg, Florian, Labalme, Audrey, Landais, Emilie, Lapi, Elisabetta, Layet, Valérie, Legallic, Solenn, Leheup, Bruno, Leube, Barbara, Lewis, Suzanne, Lucas, Josette, MacDermot, Kay D., Magnusson, Pall, Marshall, Christian, Mathieu-Dramard, Michèle, McCarthy, Mark I., Meitinger, Thomas, Mencarelli, Maria Antonietta, Merla, Giuseppe, Moerman, Alexandre, Mooser, Vincent, Morice-Picard, Fanny, Mucciolo, Mafalda, Nauck, Matthias, Ndiaye, Ndeye Coumba, Nordgren, Ann, Pasquier, Laurent, Petit, Florence, Pfundt, Rolph, Plessis, Ghislaine, Rajcan-Separovic, Evica, Ramelli, Gian Paolo, Rauch, Anita, Ravazzolo, Roberto, Reis, Andre, Renieri, Alessandra, Richart, Cristobal, Ried, Janina S., Rieubland, Claudine, Roberts, Wendy, Roetzer, Katharina M., Rooryck, Caroline, Rossi, Massimiliano, Saemundsen, Evald, Satre, Véronique, Schurmann, Claudia, Sigurdsson, Engilbert, Stavropoulos, Dimitri J., Stefansson, Hreinn, Tengström, Carola, Thorsteinsdóttir, Unnur, Tinahones, Francisco J., Touraine, Renaud, Vallée, Louis, van Binsbergen, Ellen, Van der Aa, Nathalie, Vincent-Delorme, Catherine, Visvikis-Siest, Sophie, Vollenweider, Peter, Völzke, Henry, Vulto-van Silfhout, Anneke T., Waeber, Gérard, Wallgren-Pettersson, Carina, Witwicki, Robert M., Zwolinksi, Simon, Andrieux, Joris, Estivill, Xavier, Gusella, James F., Gustafsson, Omar, Metspalu, Andres, Scherer, Stephen W., Stefansson, Kari, Blakemore, Alexandra I. F., Beckmann, Jacques S., and Froguel, Philippe

Published
2011
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25. Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

Author

Cheng, Hanyin, primary, Gottlieb, Leah, primary, Marchi, Elaine, primary, Kleyner, Robert, primary, Bhardwaj, Puja, primary, Rope, Alan F, primary, Rosenheck, Sarah, primary, Moutton, Sébastien, primary, Philippe, Christophe, primary, Eyaid, Wafaa, primary, Alkuraya, Fowzan S, primary, Toribio, Janet, primary, Mena, Rafael, primary, Prada, Carlos E, primary, Stessman, Holly, primary, Bernier, Raphael, primary, Wermuth, Marieke, primary, Kauffmann, Birgit, primary, Blaumeiser, Bettina, primary, Kooy, R Frank, primary, Baralle, Diana, primary, Mancini, Grazia M S, primary, Conway, Simon J, primary, Xia, Fan, primary, Chen, Zhao, primary, Meng, Linyan, primary, Mihajlovic, Ljubisa, primary, Marmorstein, Ronen, primary, and Lyon, Gholson J, primary

Published
2020
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26. Spectrum of movement disorders in 18p deletion syndrome

Author

Crosiers, David, Blaumeiser, Bettina, and Van Goethem, Gert

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, Case Series, Human medicine, nervous system diseases
Abstract

Background Deletion of the short arm of chromosome 18 leads to 18p deletion syndrome. Clinical features include short stature, facial dysmorphism, mental retardation, and several types of movement disorders. Methods The 18p deletion syndrome in our patient was diagnosed using karyotype analysis and confirmed by genome‐wide single‐nucleotide polymorphism array. We have performed a literature search and summarized all previously reported patients with 18p deletion syndrome and movement disorders. Results We present a 41‐year‐old male patient with childhood‐onset generalized dystonia. Dystonia is the most prevalent movement disorder in 18p deletion patients, with onset ranging from childhood to adulthood. Chorea, myoclonus, tremor, tics, and ataxia have been reported in a minority of these patients. Conclusion Dystonia is commonly observed in 18p deletion syndrome. The variable size of the deletion on 18p is probably responsible for the broad phenotypic variability of movement disorders in this syndrome.

Published
2019

27. The BElgian PREnatal MicroArray (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations

Author

Muys, Joke, Blaumeiser, Bettina, Jacquemyn, Yves, Bandelier, Claude, Brison, Nathalie, Bulk, Saskia, Chiarappa, Patrizia, Courtens, Winnie, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Destree, Anne, Devriendt, Koenraad, Dheedene, Annelies, Fieuw, Annelies, Fransen, Erik, Gatot, Jean-Stéphane, Holmgren, Philip, Jamar, Mauicette, Janssens, Sandra, Keymolen, Kathelijn, Lederer, Damien, Menten, Björn, Meuwissen, Marije, Parmentier, Benoit, Pichon, Bruno, Rombout, Sonia, Sznajer, Yves, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vanakker, Olivier, Vermeesch, Joris, and Janssens, Katrien

Subjects
Human medicine, Biology
Abstract

Objective With the replacement of karyotyping by chromosomal microarray (CMA) in invasive prenatal diagnosis, new challenges have arisen. By building a national database, we standardize the classification and reporting of prenatally detected copy number variants (CNVs) across Belgian genetic centers. This database, which will link genetic and ultrasound findings with postnatal development, forms a unique resource to investigate the pathogenicity of variants of uncertain significance and to refine the phenotypic spectrum of pathogenic and susceptibility CNVs. Methods The BElgian PREnatal MicroArray (BEMAPRE) consortium is a collaboration of all genetic centers in Belgium. We collected data from all invasive prenatal procedures performed between May 2013 and July 2016. Results In this three‐year period, 13266 prenatal CMAs were performed. By national agreement, a limited number of susceptibility CNVs and no variants of uncertain significance were reported. Added values for using CMA versus conventional karyotyping were 1.8% in the general invasive population and 2.7% in cases with an ultrasound anomaly. Of the reported CNVs 31.5% would have remained undetected with NIPT as the first‐tier test. Conclusion The establishment of a national database for prenatal CNV data allows for a uniform reporting policy and the investigation of the prenatal and postnatal genotype‐phenotype correlation.

Published
2018

29. Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

Author

Cheng, Hanyin, primary, Gottlieb, Leah, additional, Marchi, Elaine, additional, Kleyner, Robert, additional, Bhardwaj, Puja, additional, Rope, Alan F, additional, Rosenheck, Sarah, additional, Moutton, Sébastien, additional, Philippe, Christophe, additional, Eyaid, Wafaa, additional, Alkuraya, Fowzan S, additional, Toribio, Janet, additional, Mena, Rafael, additional, Prada, Carlos E, additional, Stessman, Holly, additional, Bernier, Raphael, additional, Wermuth, Marieke, additional, Kauffmann, Birgit, additional, Blaumeiser, Bettina, additional, Kooy, R Frank, additional, Baralle, Diana, additional, Mancini, Grazia M S, additional, Conway, Simon J, additional, Xia, Fan, additional, Chen, Zhao, additional, Meng, Linyan, additional, Mihajlovic, Ljubisa, additional, Marmorstein, Ronen, additional, and Lyon, Gholson J, additional

Published
2019
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31. The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.

Author

UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, Muys, Joke, Blaumeiser, Bettina, Jacquemyn, Yves, Bandelier, Claude, Brison, Nathalie, Bulk, Saskia, Chiarappa, Patrizia, Courtens, Winnie, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Destrée, Anne, Devriendt, Koenraad, Dheedene, Annelies, Fieuw, Annelies, Fransen, Erik, Gatot, Jean-Stéphane, Holmgren, Philip, Jamar, Mauricette, Janssens, Sandra, Keymolen, Kathelijn, Lederer, Damien, Menten, Björn, Meuwissen, Marije, Parmentier, Benoit, Pichon, Bruno, Rombout, Sonia, Sznajer, Yves, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vanakker, Olivier, Vermeesch, Joris, Janssens, Katrien, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, Muys, Joke, Blaumeiser, Bettina, Jacquemyn, Yves, Bandelier, Claude, Brison, Nathalie, Bulk, Saskia, Chiarappa, Patrizia, Courtens, Winnie, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Destrée, Anne, Devriendt, Koenraad, Dheedene, Annelies, Fieuw, Annelies, Fransen, Erik, Gatot, Jean-Stéphane, Holmgren, Philip, Jamar, Mauricette, Janssens, Sandra, Keymolen, Kathelijn, Lederer, Damien, Menten, Björn, Meuwissen, Marije, Parmentier, Benoit, Pichon, Bruno, Rombout, Sonia, Sznajer, Yves, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vanakker, Olivier, Vermeesch, Joris, and Janssens, Katrien

Abstract

OBJECTIVE: With the replacement of karyotyping by chromosomal microarray (CMA) in invasive prenatal diagnosis, new challenges have arisen. By building a national database, we standardize the classification and reporting of prenatally detected copy number variants (CNVs) across Belgian genetic centers. This database, which will link genetic and ultrasound findings with postnatal development, forms a unique resource to investigate the pathogenicity of variants of uncertain significance and to refine the phenotypic spectrum of pathogenic and susceptibility CNVs. METHODS: The Belgian MicroArray Prenatal (BEMAPRE) consortium is a collaboration of all genetic centers in Belgium. We collected data from all invasive prenatal procedures performed between May 2013 and July 2016. RESULTS: In this three-year period, 13 266 prenatal CMAs were performed. By national agreement, a limited number of susceptibility CNVs and no variants of uncertain significance were reported. Added values for using CMA versus conventional karyotyping were 1.8% in the general invasive population and 2.7% in cases with an ultrasound anomaly. Of the reported CNVs, 31.5% would have remained undetected with non-invasive prenatal test as the first-tier test. CONCLUSION: The establishment of a national database for prenatal CNV data allows for a uniform reporting policy and the investigation of the prenatal and postnatal genotype-phenotype correlation.

Published
2018

32. The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations

Author

Muys, Joke, Blaumeiser, Bettina, Jacquemyn, Yves, Bandelier, Claude, Brison, Nathalie, Bulk, Saskia, Chiarappa, Patrizia, Courtens, Winnie, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Donckier De Donceel, Annette, Devriendt, Koen, Dheedene, Annelies, Fieuw, Annelies, Fransen, Erik, Gatot, Jean-Stéphane, Holmgren, Philip, Jamar, Mauricette, Janssens, Sandra, Keymolen, Kathelijn, Lederer, Damien, Menten, Björn, Meuwissen, Marije E C, Parmentier, Benoit, Pichon, Bruno, Rombout, Sonia, Sznajer, Yves, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vanakker, Olivier, Vermeesch, Joris Robert, Janssens, Katrien, Muys, Joke, Blaumeiser, Bettina, Jacquemyn, Yves, Bandelier, Claude, Brison, Nathalie, Bulk, Saskia, Chiarappa, Patrizia, Courtens, Winnie, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Donckier De Donceel, Annette, Devriendt, Koen, Dheedene, Annelies, Fieuw, Annelies, Fransen, Erik, Gatot, Jean-Stéphane, Holmgren, Philip, Jamar, Mauricette, Janssens, Sandra, Keymolen, Kathelijn, Lederer, Damien, Menten, Björn, Meuwissen, Marije E C, Parmentier, Benoit, Pichon, Bruno, Rombout, Sonia, Sznajer, Yves, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vanakker, Olivier, Vermeesch, Joris Robert, and Janssens, Katrien

Abstract

Objective: With the replacement of karyotyping by chromosomal microarray (CMA) in invasive prenatal diagnosis, new challenges have arisen. By building a national database, we standardize the classification and reporting of prenatally detected copy number variants (CNVs) across Belgian genetic centers. This database, which will link genetic and ultrasound findings with postnatal development, forms a unique resource to investigate the pathogenicity of variants of uncertain significance and to refine the phenotypic spectrum of pathogenic and susceptibility CNVs. Methods: The Belgian MicroArray Prenatal (BEMAPRE) consortium is a collaboration of all genetic centers in Belgium. We collected data from all invasive prenatal procedures performed between May 2013 and July 2016. Results: In this three-year period, 13 266 prenatal CMAs were performed. By national agreement, a limited number of susceptibility CNVs and no variants of uncertain significance were reported. Added values for using CMA versus conventional karyotyping were 1.8% in the general invasive population and 2.7% in cases with an ultrasound anomaly. Of the reported CNVs, 31.5% would have remained undetected with non-invasive prenatal test as the first-tier test. Conclusion: The establishment of a national database for prenatal CNV data allows for a uniform reporting policy and the investigation of the prenatal and postnatal genotype–phenotype correlation., SCOPUS: ar.j, DecretOANoAutActif, info:eu-repo/semantics/published

Published
2018

33. Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2

Author

Fischer, Johannes, Degenhardt, Franziska, Hofmann, Andrea, Redler, Silke, Basmanav, F. Buket, Heilmann-Heimbach, Stefanie, Hanneken, Sandra, Giehl, Kathrin A., Wolff, Hans, Moebus, Susanne, Kruse, Roland, Lutz, Gerhard, Blaumeiser, Bettina, Boehm, Markus, Bartels, Natalie Garcia, Blume-Peytavi, Ulrike, Petukhova, Lynn, Christiano, Angela M., Nöthen, Markus, Noethen, Markus M., and Betz, Regina C.

Subjects
0301 basic medicine, Adult, Male, medicine.medical_specialty, Alopecia Areata, DNA Copy Number Variations, Genotype, Medizin, Genome-wide association study, Dermatology, Biology, Biochemistry, Polymorphism, Single Nucleotide, Receptors, G-Protein-Coupled, Pathogenesis, Cohort Studies, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Belgium, Molecular genetics, Germany, medicine, Humans, Copy-number variation, Receptors, Pituitary Hormone, Molecular Biology, Gene, Netherlands, Genetics, Melanins, Hypothalamic Hormones, Pigmentation, Chromosome Mapping, Alopecia areata, medicine.disease, Europe, Pituitary Hormones, 030104 developmental biology, Etiology, Female, Human medicine, Genome-Wide Association Study, Signal Transduction
Abstract

Alopecia areata (AA) is a common hair loss disorder of autoimmune aetiology, which often results in pronounced psychological distress. Understanding of the pathophysiology of AA is increasing, due in part to recent genetic findings implicating common variants at several genetic loci. To date, no study has investigated the contribution of copy number variants (CNVs) to AA, a prominent class of genomic variants involved in other autoimmune disorders. Here, we report a genomewide- and a candidate gene-focused CNV analysis performed in a cohort of 585 patients with AA and 1340 controls of Central European origin. A nominally significant association with AA was found for CNVs in the following five chromosomal regions: 4q35.2, 6q16.3, 9p23, 16p12.1 and 20p12.1. The most promising finding was a 342.5-kb associated region in 6q16.3 (duplications in 4/585 patients; 0/1340 controls). The duplications spanned the genes MCHR2 and MCHR2-AS1, implicated in melanin-concentrating hormone (MCH) signalling. These genes have not been implicated in previous studies of AA pathogenesis. However, previous research has shown that MCHR2 affects the scale colour of barfin flounder fish via the induction of melanin aggregation. AA preferentially affects pigmented hairs, and the hair of patients with AA frequently shows a change in colour when it regrows following an acute episode of AA. This might indicate a relationship between AA, pigmentation and MCH signalling. In conclusion, the present results provide suggestive evidence for the involvement of duplications in MCHR2 in AA pathogenesis.

Published
2017

34. New perspective on maintenance therapies for platinum- sensitive recurrent ovarian cancer in women with germline and somatic mutations in BRCA1 and BRCA2 genes

Author

Vergote, I., Bours, V., Blaumeiser, Bettina, Baurain, J-F., UCL - SSS/IREC/MIRO - Pôle d'imagerie moléculaire, radiothérapie et oncologie, and UCL - (SLuc) Unité d'oncologie médicale

Subjects
Platinum-sensitive recurrent ovarian cancer, BRCA 1, endocrine system diseases, BRCA 2, platinum-sensitive recurrent ovarian cancer, New Perspective, maintenance therapy, cancer, Human medicine, Maintenance therapy, female genital diseases and pregnancy complications, Cancer
Abstract

Ovarian cancer (OC) is the seventh most common cancer in women. Although women diagnosed with OC are usually treated frontline with platinum-based chemotherapy, most of them relapse once treatment is halted. Therefore, maintenance therapies have been developed to secure the response and delay further chemotherapy. There are two established maintenance therapies for women affected by platinum-sensitive recurrent OC: bevacizumab, a humanized monoclonal antibody targeting vascular endothelial growth factor, and olaparib, an inhibitor of poly (adenosine diphosphate [ADP]-ribose) polymerase (PARPi). Loss-of-function mutations in genes in the homologous recombination pathway, especially BRCA1 and BRCA2, predict higher rates of platinum sensitivity, better overall survival (OS), and better response to PARPi in women with OC. Among patients with platinum-sensitive recurrent OC, a BRCA mutation is the first genetically defined predictive marker for targeted therapy, since these patients are most likely to benefit from treatment with a PARPi, such as olaparib. In patients with platinum-sensitive recurrent OC without a BRCA mutation, bevacizumab currently seems to be the best maintenance option. Women with OC are progressively more routinely screened for germline BRCA mutations, and the implication of somatic BRCA mutations is increasingly being recognized in OC. Therefore, the recommendations should be updated to reflect the importance of both types of mutations. Together, these data highlight the fact that treatment of recurrent OC can be optimized using genomic contributions to individualize therapy and to improve treatment response.

Published
2016

35. Detection of a case of chronic myeloid leukaemia with deletions at the t(9;22) translocation breakpoints by a genome-wide non-invasive prenatal test

Author

Janssens, Katrien, Deiteren, Kathleen, Verlinden, Anke, Rooms, Liesbeth, Beckers, Sigri, Holmgren, Philip, Vermeulen, Katrien, Maes, Marie-Berthe, Mortier, Geert, and Blaumeiser, Bettina

Subjects
Human medicine
Abstract

Objective Non-invasive prenatal tests (NIPTs) interrogating the complete genome are able to detect not only fetal trisomy 13, 18 or 21 but additionally provide information on other (sub)chromosomal aberrations that can be fetal or maternal in origin. We demonstrate that in a subset of cases, this information is clinically relevant and should be reported to ensure adequate follow-up. Method Genome-wide NIPT was carried out and followed by a software analysis pipeline optimized to detect subchromosomal aberrations. Results The NIPT profile showed deletions on chromosomes 9 and 22: NIPT 9q33.3q34.12(129150001-133750000)x1,22q11.23(23550001-25450000)x1,22q13.1(37850001-39600000)x1. This result was confirmed by single nucleotide polymorphism array on maternal genomic DNA, which also demonstrated that the deletions were somatic in nature. Fluorescence in situ hybridization and quantitative real-time polymerase chain reaction revealed that the deletions were flanking the translocation breakpoint on the derivative chromosome 9 as the result of a t(9;22)(q34;q11.2) translocation with BCRABL1 fusion typical for chronic myeloid leukaemia (CML). Multidisciplinary counselling, together with complete blood count, taught that the woman was in an early chronic phase CML. The woman was followed up closely, and treatment could be postponed until after delivery. Conclusion Genome-wide NIPT identified a CML in chronic phase caused by the typical t(9;22)(q34;q11.2) translocation and accompanied by deletions flanking the translocation breakpoints.

Published
2016

36. Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies

Author

Brison, Nathalie, primary, Van Den Bogaert, Kris, additional, Dehaspe, Luc, additional, van den Oever, Jessica M.E., additional, Janssens, Katrien, additional, Blaumeiser, Bettina, additional, Peeters, Hilde, additional, Van Esch, Hilde, additional, Van Buggenhout, Griet, additional, Vogels, Annick, additional, de Ravel, Thomy, additional, Legius, Eric, additional, Devriendt, Koen, additional, and Vermeesch, Joris R., additional

Published
2017
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38. Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci

Author

Betz, Regina C, Petukhova, Lynn, Ripke, Stephan, Huang, Hailiang, Menelaou, Androniki, Redler, Silke, Becker, Tim, Heilmann, Stefanie, Yamany, Tarek, Duvic, Madeliene, Hordinsky, Maria, Norris, David, Price, Vera H, Mackay-Wiggan, Julian, de Jong, Annemieke, DeStefano, Gina M, Moebus, Susanne, Böhm, Markus, Blume-Peytavi, Ulrike, Wolff, Hans, Lutz, Gerhard, Kruse, Roland, Bian, Li, Amos, Christopher I, Lee, Annette, Gregersen, Peter K, Blaumeiser, Bettina, Altshuler, David, Clynes, Raphael, de Bakker, Paul I W, Nöthen, Markus M, Daly, Mark J, Christiano, Angela M, Betz, Regina C, Petukhova, Lynn, Ripke, Stephan, Huang, Hailiang, Menelaou, Androniki, Redler, Silke, Becker, Tim, Heilmann, Stefanie, Yamany, Tarek, Duvic, Madeliene, Hordinsky, Maria, Norris, David, Price, Vera H, Mackay-Wiggan, Julian, de Jong, Annemieke, DeStefano, Gina M, Moebus, Susanne, Böhm, Markus, Blume-Peytavi, Ulrike, Wolff, Hans, Lutz, Gerhard, Kruse, Roland, Bian, Li, Amos, Christopher I, Lee, Annette, Gregersen, Peter K, Blaumeiser, Bettina, Altshuler, David, Clynes, Raphael, de Bakker, Paul I W, Nöthen, Markus M, Daly, Mark J, and Christiano, Angela M

Published
2015

39. Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci

Author

Infection & Immunity, JC onderzoeksprogramma Methodologie, Cancer, CMM Groep Kaaij, Betz, Regina C, Petukhova, Lynn, Ripke, Stephan, Huang, Hailiang, Menelaou, Androniki, Redler, Silke, Becker, Tim, Heilmann, Stefanie, Yamany, Tarek, Duvic, Madeliene, Hordinsky, Maria, Norris, David, Price, Vera H, Mackay-Wiggan, Julian, de Jong, Annemieke, DeStefano, Gina M, Moebus, Susanne, Böhm, Markus, Blume-Peytavi, Ulrike, Wolff, Hans, Lutz, Gerhard, Kruse, Roland, Bian, Li, Amos, Christopher I, Lee, Annette, Gregersen, Peter K, Blaumeiser, Bettina, Altshuler, David, Clynes, Raphael, de Bakker, Paul I W, Nöthen, Markus M, Daly, Mark J, Christiano, Angela M, Infection & Immunity, JC onderzoeksprogramma Methodologie, Cancer, CMM Groep Kaaij, Betz, Regina C, Petukhova, Lynn, Ripke, Stephan, Huang, Hailiang, Menelaou, Androniki, Redler, Silke, Becker, Tim, Heilmann, Stefanie, Yamany, Tarek, Duvic, Madeliene, Hordinsky, Maria, Norris, David, Price, Vera H, Mackay-Wiggan, Julian, de Jong, Annemieke, DeStefano, Gina M, Moebus, Susanne, Böhm, Markus, Blume-Peytavi, Ulrike, Wolff, Hans, Lutz, Gerhard, Kruse, Roland, Bian, Li, Amos, Christopher I, Lee, Annette, Gregersen, Peter K, Blaumeiser, Bettina, Altshuler, David, Clynes, Raphael, de Bakker, Paul I W, Nöthen, Markus M, Daly, Mark J, and Christiano, Angela M

Published
2015

40. Direct-to-consumer genetic testing services : PUBLICATION OF THE SUPERIOR HEALTH COUNCIL No. 8714

Author

Borry, Pascal, Antoine-Poirel, Hélène, Baatout, Sarah, Blaumeiser, Bettina, Cassiman, Jean-Jacques, de Thibault de Boesinghe, Léopold, Fondu, Michel, Godderis, Lode, Haufroid, Vincent, Hulstaert, Frank, Kirsch-Volders, Micheline, Liebaers, Inge, Loeys, Bart, Poppe, Bruce, Schamps, Geneviève, Van Larebeke, Nicolas, Van Nerom, Anne, Van Oyen, Herman, Ver Ellen-Dumoulin, Christine, and Vikkula, Mikka

Abstract

status: published

Published
2012

41. Direct-to-consumer genetic testing services

Author

Borry, Pascal, Poirel, Hélène, Baatout, Sarah, Blaumeiser, Bettina, Cassiman, Jean-Jacques, de Thibault de Boesinghe, Léopold, Fondu, Michel, Godderis, Lode, Haufroid, Vincent, Hulstaert, Frank, Kirsch-Volders, Micheline, Liebaers, Inge, Loeys, Bart, Poppe, Bruce, Schamps, Geneviève, Van Larebeke, Nicolas, Van Nerom, Anne, Van Oyen, Herman, Dumoulin, Christine, Vikkula, Miikka, UCL - SSS/DDUV - Institut de Duve, UCL - SSS/IREC/LTAP - Louvain Centre for Toxicology and Applied Pharmacology, UCL - SSH/JURI/PJPR - Droit privé, UCL - (SLuc) Centre de génétique médicale UCL, and UCL - (SLuc) Service de biochimie médicale

Subjects
ComputingMilieux_THECOMPUTINGPROFESSION, education
Abstract

In this scientific policy advice report, the Superior Health Council provides recommendations and policy options which are fostering an ethically and medically appropriate offer of direct-to-consumer genetic tests, as the one provided through the healthcare system in Belgium

Published
2012

42. Immunochip-Based Analysis: High-Density Genotyping of Immune-Related Loci Sheds Further Light on the Autoimmune Genetic Architecture of Alopecia Areata

Author

Redler, Silke, primary, Angisch, Marina, additional, Heilmann, Stefanie, additional, Wolf, Sabrina, additional, Barth, Sandra, additional, Basmanav, Buket F., additional, Giehl, Kathrin A., additional, Hanneken, Sandra, additional, Eigelshoven, Sibylle, additional, Mangold, Elisabeth, additional, Kruse, Roland, additional, Blaumeiser, Bettina, additional, Böhm, Markus, additional, Knapp, Michael, additional, Garcia Bartels, Natalie, additional, Lutz, Gerhard, additional, Wolff, Hans, additional, Blume-Peytavi, Ulrike, additional, Nöthen, Markus M., additional, Becker, Tim, additional, and Betz, Regina C., additional

Published
2015
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43. Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci

Author

Betz, Regina C., primary, Petukhova, Lynn, additional, Ripke, Stephan, additional, Huang, Hailiang, additional, Menelaou, Androniki, additional, Redler, Silke, additional, Becker, Tim, additional, Heilmann, Stefanie, additional, Yamany, Tarek, additional, Duvic, Madeliene, additional, Hordinsky, Maria, additional, Norris, David, additional, Price, Vera H., additional, Mackay-Wiggan, Julian, additional, de Jong, Annemieke, additional, DeStefano, Gina M., additional, Moebus, Susanne, additional, Böhm, Markus, additional, Blume-Peytavi, Ulrike, additional, Wolff, Hans, additional, Lutz, Gerhard, additional, Kruse, Roland, additional, Bian, Li, additional, Amos, Christopher I., additional, Lee, Annette, additional, Gregersen, Peter K., additional, Blaumeiser, Bettina, additional, Altshuler, David, additional, Clynes, Raphael, additional, de Bakker, Paul I. W., additional, Nöthen, Markus M., additional, Daly, Mark J., additional, and Christiano, Angela M., additional

Published
2015
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44. Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges

Author

UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, Vanakker, Olivier, Vilain, Catheline, Janssens, Katrien, Van der Aa, Nathalie, Smits, Guillaume, Bandelier, Claude, Blaumeiser, Bettina, Bulk, Saskia, Caberg, Jean-Hubert, De Leener, Anne, De Rademaeker, Marjan, de Ravel, Thomy, Desir, Julie, Destree, Anne, Dheedene, Annelies, Gaillez, Stéphane, Grisart, Bernard, Hellin, Ann-Cécile, Janssens, Sandra, Keymolen, Kathelijn, Menten, Björn, Pichon, Bruno, Ravoet, Marie, Revencu, Nicole, Rombout, Sonia, Staessens, Catherine, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vermeesch, Joris R., Kooy, Frank, Sznajer, Yves, Devriendt, Koen, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, Vanakker, Olivier, Vilain, Catheline, Janssens, Katrien, Van der Aa, Nathalie, Smits, Guillaume, Bandelier, Claude, Blaumeiser, Bettina, Bulk, Saskia, Caberg, Jean-Hubert, De Leener, Anne, De Rademaeker, Marjan, de Ravel, Thomy, Desir, Julie, Destree, Anne, Dheedene, Annelies, Gaillez, Stéphane, Grisart, Bernard, Hellin, Ann-Cécile, Janssens, Sandra, Keymolen, Kathelijn, Menten, Björn, Pichon, Bruno, Ravoet, Marie, Revencu, Nicole, Rombout, Sonia, Staessens, Catherine, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vermeesch, Joris R., Kooy, Frank, Sznajer, Yves, and Devriendt, Koen

Abstract

After their successful introduction in postnatal testing, genome-wide arrays are now rapidly replacing conventional karyotyping in prenatal diagnostics. While previous studies have demonstrated the advantages of this method, we are confronted with difficulties regarding the technology and the ethical dilemmas inherent to genomic arrays. These include indication for testing, array design, interpretation of variants and how to deal with variants of unknown significance and incidental findings. The experiences with these issues reported in the literature are most often from single centres. Here, we report on a national consensus approach how microarray is implemented in all genetic centres in Belgium. These recommendations are subjected to constant re-evaluation based on our growing experience and can serve as a useful tool for those involved in prenatal diagnosis. © 2014 Elsevier Masson SAS.

Published
2014

47. Direct-to-consumer genetic testing services

Author

UCL - SSS/DDUV - Institut de Duve, UCL - SSS/IREC/LTAP - Louvain Centre for Toxicology and Applied Pharmacology, UCL - SSH/JURI/PJPR - Droit privé, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de biochimie médicale, Borry, Pascal, Poirel, Hélène, Baatout, Sarah, Blaumeiser, Bettina, Cassiman, Jean-Jacques, de Thibault de Boesinghe, Léopold, Fondu, Michel, Godderis, Lode, Haufroid, Vincent, Hulstaert, Frank, Kirsch-Volders, Micheline, Liebaers, Inge, Loeys, Bart, Poppe, Bruce, Schamps, Geneviève, Van Larebeke, Nicolas, Van Nerom, Anne, Van Oyen, Herman, Dumoulin, Christine, Vikkula, Miikka, UCL - SSS/DDUV - Institut de Duve, UCL - SSS/IREC/LTAP - Louvain Centre for Toxicology and Applied Pharmacology, UCL - SSH/JURI/PJPR - Droit privé, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de biochimie médicale, Borry, Pascal, Poirel, Hélène, Baatout, Sarah, Blaumeiser, Bettina, Cassiman, Jean-Jacques, de Thibault de Boesinghe, Léopold, Fondu, Michel, Godderis, Lode, Haufroid, Vincent, Hulstaert, Frank, Kirsch-Volders, Micheline, Liebaers, Inge, Loeys, Bart, Poppe, Bruce, Schamps, Geneviève, Van Larebeke, Nicolas, Van Nerom, Anne, Van Oyen, Herman, Dumoulin, Christine, and Vikkula, Miikka

Abstract

In this scientific policy advice report, the Superior Health Council provides recommendations and policy options which are fostering an ethically and medically appropriate offer of direct-to-consumer genetic tests, as the one provided through the healthcare system in Belgium

Published
2012

48. Follow-Up Study of the First Genome-Wide Association Scan in Alopecia Areata: IL13 and KIAA0350 as Susceptibility Loci Supported with Genome-Wide Significance

Author

Jagielska, Dagny, primary, Redler, Silke, additional, Brockschmidt, Felix F., additional, Herold, Christine, additional, Pasternack, Sandra M., additional, Garcia Bartels, Natalie, additional, Hanneken, Sandra, additional, Eigelshoven, Sibylle, additional, Refke, Melanie, additional, Barth, Sandra, additional, Giehl, Kathrin A., additional, Kruse, Roland, additional, Lutz, Gerhard, additional, Wolff, Hans, additional, Blaumeiser, Bettina, additional, Böhm, Markus, additional, Blume-Peytavi, Ulrike, additional, Becker, Tim, additional, Nöthen, Markus M., additional, and Betz, Regina C., additional

Published
2012
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49. Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata

Author

Forstbauer, Lina M, primary, Brockschmidt, Felix F, additional, Moskvina, Valentina, additional, Herold, Christine, additional, Redler, Silke, additional, Herzog, Alexandra, additional, Hillmer, Axel M, additional, Meesters, Christian, additional, Heilmann, Stefanie, additional, Albert, Florian, additional, Alblas, Margrieta, additional, Hanneken, Sandra, additional, Eigelshoven, Sibylle, additional, Giehl, Kathrin A, additional, Jagielska, Dagny, additional, Blume-Peytavi, Ulrike, additional, Bartels, Natalie Garcia, additional, Kuhn, Jennifer, additional, Hennies, Hans Christian, additional, Goebeler, Matthias, additional, Jung, Andreas, additional, Peitsch, Wiebke K, additional, Kortüm, Anne-Katrin, additional, Moll, Ingrid, additional, Kruse, Roland, additional, Lutz, Gerhard, additional, Wolff, Hans, additional, Blaumeiser, Bettina, additional, Böhm, Markus, additional, Kirov, George, additional, Becker, Tim, additional, Nöthen, Markus M, additional, and Betz, Regina C, additional

Published
2011
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50. Genetic Variants in CTLA4 Are Strongly Associated with Alopecia Areata

Author

John, Karsten K-G, primary, Brockschmidt, Felix F., additional, Redler, Silke, additional, Herold, Christine, additional, Hanneken, Sandra, additional, Eigelshoven, Sibylle, additional, Giehl, Kathrin A., additional, De Weert, Jozef, additional, Lutz, Gerhard, additional, Kruse, Roland, additional, Wolff, Hans, additional, Blaumeiser, Bettina, additional, Böhm, Markus, additional, Becker, Tim, additional, Nöthen, Markus M., additional, and Betz, Regina C., additional

Published
2011
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