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27 results on '"Rieubland, Claudine"'

3. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Author

Gracia-Diaz, Carolina, Zhou, Yijing, Yang, Qian, Maroofian, Reza, Espana-Bonilla, Paula, Lee, Chul-Hwan, Zhang, Shuo, Padilla, Natàlia, Fueyo, Raquel, Waxman, Elisa A., Lei, Sunyimeng, Otrimski, Garrett, Li, Dong, Sheppard, Sarah E., Mark, Paul, Harr, Margaret H., Hakonarson, Hakon, Rodan, Lance, Jackson, Adam, Vasudevan, Pradeep, Powel, Corrina, Mohammed, Shehla, Maddirevula, Sateesh, Alzaidan, Hamad, Faqeih, Eissa A., Efthymiou, Stephanie, Turchetti, Valentina, Rahman, Fatima, Maqbool, Shazia, Salpietro, Vincenzo, Ibrahim, Shahnaz H., di Rosa, Gabriella, Houlden, Henry, Alharbi, Maha Nasser, Al-Sannaa, Nouriya Abbas, Bauer, Peter, Zifarelli, Giovanni, Estaras, Conchi, Hurst, Anna C. E., Thompson, Michelle L., Chassevent, Anna, Smith-Hicks, Constance L., de la Cruz, Xavier, Holtz, Alexander M., Elloumi, Houda Zghal, Hajianpour, M J, Rieubland, Claudine, Braun, Dominique, Banka, Siddharth, French, Deborah L., Heller, Elizabeth A., Saade, Murielle, Song, Hongjun, Ming, Guo-li, Alkuraya, Fowzan S., Agrawal, Pankaj B., Reinberg, Danny, Bhoj, Elizabeth J., Martínez-Balbás, Marian A., and Akizu, Naiara

Published
2023
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4. MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

Author

Gong, Maolei, primary, Li, Jiayi, additional, Liu, Yijun, additional, Matheus, Vernet Machado Bressan Wilk, additional, Li, Qian, additional, Liu, Haoran, additional, Liang, Chen, additional, Joel A, Morales-Rosado, additional, Cohen, Ana S.A., additional, Hughes, Susan S., additional, Sullivan, Bonnie R, additional, Waddell, Valerie, additional, Henriette van den Boogaard, Marie Jose, additional, van Jaarsveld, Richard H., additional, Binsbergen, Ellen van, additional, van Gassen, Koen L, additional, Wang, Tianyun, additional, Hiatt, Susan M., additional, Amaral, Michelle D., additional, Kelley, Whitley V., additional, Zhao, Jianbo, additional, Feng, Weixing, additional, Ren, Changhong, additional, Yu, Yazhen, additional, Boczek, Nicole J, additional, Ferber, Matthew J., additional, Lahner, Carrie, additional, Elliott, Sherr, additional, Ruan, Yiyan, additional, Mignot, Cyril, additional, Keren, Boris, additional, Xie, Hua, additional, Wang, Xiaoyan, additional, Popp, Bernt, additional, Zweier, Christiane, additional, Piard, Juliette, additional, Coubes, Christine, additional, Tran-Mau-Them, Frederic, additional, Safraou, Hana, additional, Innes, Micheil, additional, Gauthier, Julie, additional, Michaud, Jacques L, additional, Koboldt, Daniel C., additional, Sylvie, ODENT, additional, Willems, Marjolaine, additional, Tan, Wen-Hann, additional, Cogne, Benjamin, additional, Rieubland, Claudine, additional, Braun, Dominique, additional, McLean, Scott Douglas, additional, Platzer, Konrad, additional, Zacher, Pia, additional, Oppermann, Henry, additional, Evenepoel, Lucie, additional, BLANC, Pierre, additional, Khattabi, Laila El, additional, Haque, Neshatul, additional, Dsouza, Nikita R., additional, Zimmermann, Michael T, additional, Urrutia, Raul A, additional, Klee, Eric W, additional, Shen, Yiping, additional, Du, Hong-Zhen, additional, Qin, Zailong, additional, Liu, Chang-Mei, additional, and chen, xiaoli, additional

Published
2024
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5. De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.

Author

Ha, Thoa, Morgan, Angela, Bartos, Meghan N., Beatty, Katelyn, Cogné, Benjamin, Braun, Dominique, Gerber, Céline B., Gaspar, Harald, Kopps, Anna M., Rieubland, Claudine, Hurst, Anna C. E., Amor, David J., Nizon, Mathilde, Pasquier, Laurent, Pfundt, Rolph, Reis, André, Siu, Victoria Mok, Tessarech, Marine, Thompson, Michelle L., and Vincent, Marie

Abstract

The disconnected (disco)‐interacting protein 2 (DIP2) gene was first identified in D. melanogaster and contains a DNA methyltransferase‐associated protein 1 (DMAP1) binding domain, Acyl‐CoA synthetase domain and AMP‐binding sites. DIP2 regulates axonal bifurcation of the mushroom body neurons in D. melanogaster and is required for axonal regeneration in the neurons of C. elegans. The DIP2 homologues in vertebrates, Disco‐interacting protein 2 homolog A (DIP2A), Disco‐interacting protein 2 homolog B (DIP2B), and Disco‐interacting protein 2 homolog C (DIP2C), are highly conserved and expressed widely in the central nervous system. Although there is evidence that DIP2C plays a role in cognition, reports of pathogenic variants in these genes are rare and their significance is uncertain. We present 23 individuals with heterozygous DIP2C variants, all manifesting developmental delays that primarily affect expressive language and speech articulation. Eight patients had de novo variants predicting loss‐of‐function in the DIP2C gene, two patients had de novo missense variants, three had paternally inherited loss of function variants and six had maternally inherited loss‐of‐function variants, while inheritance was unknown for four variants. Four patients had cardiac defects (hypertrophic cardiomyopathy, atrial septal defects, and bicuspid aortic valve). Minor facial anomalies were inconsistent but included a high anterior hairline with a long forehead, broad nasal tip, and ear anomalies. Brainspan analysis showed elevated DIP2C expression in the human neocortex at 10–24 weeks after conception. With the cases presented herein, we provide phenotypic and genotypic data supporting the association between loss‐of‐function variants in DIP2C with a neurocognitive phenotype. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Author

Faundes, Víctor, Goh, Stephanie, Akilapa, Rhoda, Bezuidenhout, Heidre, Bjornsson, Hans T., Bradley, Lisa, Brady, Angela F., Brischoux-Boucher, Elise, Brunner, Han, Bulk, Saskia, Canham, Natalie, Cody, Declan, Dentici, Maria Lisa, Digilio, Maria Cristina, Elmslie, Frances, Fry, Andrew E., Gill, Harinder, Hurst, Jane, Johnson, Diana, Julia, Sophie, Lachlan, Katherine, Lebel, Robert Roger, Byler, Melissa, Gershon, Eric, Lemire, Edmond, Gnazzo, Maria, Lepri, Francesca Romana, Marchese, Antonia, McEntagart, Meriel, McGaughran, Julie, Mizuno, Seiji, Okamoto, Nobuhiko, Rieubland, Claudine, Rodgers, Jonathan, Sasaki, Erina, Scalais, Emmanuel, Scurr, Ingrid, Suri, Mohnish, van der Burgt, Ineke, Matsumoto, Naomichi, Miyake, Noriko, Benoit, Valérie, Lederer, Damien, and Banka, Siddharth

Published
2021
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9. Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome.

Author

Ferrario, Alessandra, Aliu, Nijas, Rieubland, Claudine, Vuilleumier, Sébastian, Grabe, Hilary M., and Escher, Pascal

Subjects
COMPARATIVE genomic hybridization, AGENESIS of corpus callosum, PHENOTYPES, PSYCHOMOTOR disorders, ARNOLD-Chiari deformity, GENOTYPES, INNER ear
Abstract

Chromosomal abnormalities on the short arm of chromosome 2 in the region p11.2 have been associated with developmental delay, intellectual disability, facial anomalies, abnormal ears, skeletal and genital malformations. Here we describe a patient with a de novo interstitial heterozygous microdeletion on the short arm of chromosome 2 in the region p11.2-p12. He presents with facial dysmorphism characterized by a broad and low root of the nose and low-set protruding ears. Clinical examinations during follow-up visits revealed congenital pendular nystagmus, decreased visual acuity and psychomotor development disorder including intellectual disability. The heterozygous 5 Mb-microdeletion was characterized by an array CGH (Comparative Genomic Hybridization) analysis. In the past two decades, nine patients with microdeletions in this region have been identified by array CGH analysis and were reported in the literature. All these patients show psychomotor development disorder and outer and/or inner ear anomalies. In addition, most of the patients have mild to severe intellectual disability and show facial malformations. We reviewed the literature on PubMed and OMIM using the gene/loci names as search terms in an attempt to identify correlations between genes located within the heterozygous microdeletion and the clinical phenotype of the patient, in order to define a recognizable phenotype for the 2p11.2p12 microdeletion syndrome. We discuss additional symptoms that are not systematically present in all patients and contribute to a heterogeneous clinical presentation of this microdeletion syndrome. [ABSTRACT FROM AUTHOR]

Published
2023
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11. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Author

Saffari, Afshin, primary, Lau, Tracy, additional, Tajsharghi, Homa, additional, Karimiani, Ehsan Ghayoor, additional, Kariminejad, Ariana, additional, Efthymiou, Stephanie, additional, Zifarelli, Giovanni, additional, Sultan, Tipu, additional, Toosi, Mehran Beiraghi, additional, Sedighzadeh, Sahar, additional, Siu, Victoria Mok, additional, Ortigoza-Escobar, Juan Darío, additional, AlShamsi, Aisha M, additional, Ibrahim, Shahnaz, additional, Al-Sannaa, Nouriya Abbas, additional, Al-Hertani, Walla, additional, Sandra, Whalen, additional, Tarnopolsky, Mark, additional, Alavi, Shahryar, additional, Li, Chumei, additional, Day-Salvatore, Debra-Lynn, additional, Martínez-González, Maria Jesús, additional, Levandoski, Kristin M, additional, Bedoukian, Emma, additional, Madan-Khetarpal, Suneeta, additional, Idleburg, Michaela J, additional, Menezes, Minal Juliet, additional, Siddharth, Aishwarya, additional, Platzer, Konrad, additional, Oppermann, Henry, additional, Smitka, Martin, additional, Collins, Felicity, additional, Lek, Monkol, additional, Shahrooei, Mohmmad, additional, Ghavideldarestani, Maryam, additional, Herman, Isabella, additional, Rendu, John, additional, Faure, Julien, additional, Baker, Janice, additional, Bhambhani, Vikas, additional, Calderwood, Laurel, additional, Akhondian, Javad, additional, Imannezhad, Shima, additional, Mirzadeh, Hanieh Sadat, additional, Hashemi, Narges, additional, Doosti, Mohammad, additional, Safi, Mojtaba, additional, Ahangari, Najmeh, additional, Torbati, Paria Najarzadeh, additional, Abedini, Soheila, additional, Salpietro, Vincenzo, additional, Gulec, Elif Yilmaz, additional, Eshaghian, Safieh, additional, Ghazavi, Mohammadreza, additional, Pascher, Michael T, additional, Vogel, Marina, additional, Abicht, Angela, additional, Moutton, Sébastien, additional, Bruel, Ange-Line, additional, Rieubland, Claudine, additional, Gallati, Sabina, additional, Strom, Tim M, additional, Lochmüller, Hanns, additional, Mohammadi, Mohammad Hasan, additional, Alvi, Javeria Raza, additional, Zackai, Elaine H, additional, Keena, Beth A, additional, Skraban, Cara M, additional, Berger, Seth I, additional, Andrew, Erin H, additional, Rahimian, Elham, additional, Morrow, Michelle M, additional, Wentzensen, Ingrid M, additional, Millan, Francisca, additional, Henderson, Lindsay B, additional, Dafsari, Hormos Salimi, additional, Jungbluth, Heinz, additional, Gomez-Ospina, Natalia, additional, McRae, Anne, additional, Peter, Merlene, additional, Veltra, Danai, additional, Marinakis, Nikolaos M, additional, Sofocleous, Christalena, additional, Ashrafzadeh, Farah, additional, Pehlivan, Davut, additional, Lemke, Johannes R, additional, Melki, Judith, additional, Benezit, Audrey, additional, Bauer, Peter, additional, Weis, Denisa, additional, Lupski, James R, additional, Senderek, Jan, additional, Christodoulou, John, additional, Chung, Wendy K, additional, Goodchild, Rose, additional, Offiah, Amaka C, additional, Moreno-De-Luca, Andres, additional, Suri, Mohnish, additional, Ebrahimi-Fakhari, Darius, additional, Houlden, Henry, additional, and Maroofian, Reza, additional

Published
2023
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12. Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Author

Maas, Saskia M., Shaw, Adam C., Bikker, Hennie, Lüdecke, Hermann-Josef, van der Tuin, Karin, Badura-Stronka, Magdalena, Belligni, Elga, Biamino, Elisa, Bonati, Maria Teresa, Carvalho, Daniel R., Cobben, JanMaarten, de Man, Stella A., Den Hollander, Nicolette S., Di Donato, Nataliya, Garavelli, Livia, Grønborg, Sabine, Herkert, Johanna C., Hoogeboom, A. Jeannette M., Jamsheer, Aleksander, Latos-Bielenska, Anna, Maat-Kievit, Anneke, Magnani, Cinzia, Marcelis, Carlo, Mathijssen, Inge B., Nielsen, Maartje, Otten, Ellen, Ousager, Lilian B., Pilch, Jacek, Plomp, Astrid, Poke, Gemma, Poluha, Anna, Posmyk, Renata, Rieubland, Claudine, Silengo, Margharita, Simon, Marleen, Steichen, Elisabeth, Stumpel, Connie, Szakszon, Katalin, Polonkai, Edit, van den Ende, Jenneke, van der Steen, Antony, van Essen, Ton, van Haeringen, Arie, van Hagen, Johanna M., Verheij, Joke B.G.M., Mannens, Marcel M., and Hennekam, Raoul C.

Published
2015
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13. Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy

Author

Strehlow, Vincent, Rieubland, Claudine, Gallati, Sabrina, Kim, Sukhan, Myers, Scott J, Peterson, Vincent, Ramsey, Amy J, Teuscher, Daniel D, Traynelis, Stephen F, and Lemke, Johannes R

Subjects
Mice, Phenotype, Neurology, Mental Disorders, Animals, Humans, Epilepsy, Generalized, Female, Neurology (clinical), 610 Medizin und Gesundheit, Child, Receptors, N-Methyl-D-Aspartate
Abstract

We report on an 8-year-old girl with severe developmental and epileptic encephalopathy due to the compound heterozygous null variants p.(Gln661*) and p.(Leu830Profs*2) in GRIN2A resulting in a knockout of the human GluN2A subunit of the N-methyl-D-aspartate receptor. Both parents had less severe GRIN2A-related phenotypes and were heterozygous carriers of the respective null variant. Functional investigations of both variants suggested a loss-of-function effect. This is the first description of an autosomal recessive, biallelic type of GRIN2A-related disorder. Nonetheless, there are marked parallels to two previously published families with severe epileptic encephalopathy due to homozygous null variants in GRIN1 as well as various knockout animal models. Compared to heterozygous null variants, biallelic knockout of either GluN1 or GluN2A is associated with markedly more severe phenotypes in both humans and mice. Furthermore, recent findings enable a potential precision medicine approach targeting GRIN-related disorders due to null variants.

Published
2022

14. Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology

Author

Banka, Siddharth, primary, Bennington, Abigail, additional, Baker, Martin J, additional, Rijckmans, Ellen, additional, Clemente, Giuliana D, additional, Ansor, Nurhuda Mohamad, additional, Sito, Hilary, additional, Prasad, Pritha, additional, Anyane-Yeboa, Kwame, additional, Badalato, Lauren, additional, Dimitrov, Boyan, additional, Fitzpatrick, David, additional, Hurst, Anna C E, additional, Jansen, Anna C, additional, Kelly, Melissa A, additional, Krantz, Ian, additional, Rieubland, Claudine, additional, Ross, Meredith, additional, Rudy, Natasha L, additional, Sanz, Javier, additional, Stouffs, Katrien, additional, Xu, Zhuo Luan, additional, Malliri, Angeliki, additional, Kazanietz, Marcelo G, additional, and Millard, Tom H, additional

Published
2022
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15. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

Author

Reinthaler, Eva M., Lal, Dennis, Lebon, Sebastien, Hildebrand, Michael S., Dahl, Hans-Henrik M., Regan, Brigid M., Feucht, Martha, Steinböck, Hannelore, Neophytou, Birgit, Ronen, Gabriel M., Roche, Laurian, Gruber-Sedlmayr, Ursula, Geldner, Julia, Haberlandt, Edda, Hoffmann, Per, Herms, Stefan, Gieger, Christian, Waldenberger, Melanie, Franke, Andre, Wittig, Michael, Schoch, Susanne, Becker, Albert J., Hahn, Andreas, Männik, Katrin, Toliat, Mohammad R., Winterer, Georg, Lerche, Holger, Nürnberg, Peter, Mefford, Heather, Scheffer, Ingrid E., Berkovic, Samuel F., Beckmann, Jacques S., Sander, Thomas, Jacquemont, Sebastien, Reymond, Alexandre, Zimprich, Fritz, Neubauer, Bernd A., Reinthaler, Eva M., Zimprich, Fritz, Feucht, Martha, Steinböck, Hannelore, Neophytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Roche, Laurian, Lal, Dennis, Nürnberg, Peter, Sander, Thomas, Lerche, Holger, Neubauer, Bernd, Zimprich, Fritz, Mörzinger, Martina, Feucht, Martha, Suls, Arvid, Weckhuysen, Sarah, Claes, Lieve, Deprez, Liesbet, Smets, Katrien, Van Dyck, Tine, Deconinck, Tine, De Jonghe, Peter, Møller, Rikke S, Klitten, Laura L., Hjalgrim, Helle, Møller, Rikke S, Campus, Kiel, Helbig, Ingo, Muhle, Hiltrud, Ostertag, Philipp, von Spiczak, Sarah, Stephani, Ulrich, Nürnberg, Peter, Sander, Thomas, Trucks, Holger, Elger, Christian E., Kleefu-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Gaus, Verena, Janz, Dieter, Sander, Thomas, Schmitz, Bettina, Rosenow, Felix, Klein, Karl Martin, Reif, Philipp S., Oertel, Wolfgang H., Hamer, Hajo M., Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Koeleman, Bobby P.C., de Kovel, Carolien, Lindhout, Dick, Lindhout, Dick, Ameil, Agnès, Andrieux, Joris, Bouquillon, Sonia, Boute, Odile, de Flandre, Jeanne, Cuisset, Jean Marie, Cuvellier, Jean-Christophe, Salengro, Roger, David, Albert, de Vries, Bert, Delrue, Marie-Ange, Doco-Fenzy, Martine, Fernandez, Bridget A., Heron, Delphine, Keren, Boris, Lebel, Robert, Leheup, Bruno, Lewis, Suzanne, Mencarelli, Maria Antonietta, Mignot, Cyril, Minet, Jean-Claude, Moerman, Alexandre, Morice-Picard, Fanny, Mucciolo, Mafalda, Ounap, Katrin, Pasquier, Laurent, Petit, Florence, Ragona, Francesca, Rajcan-Separovic, Evica, Renieri, Alessandra, Rieubland, Claudine, Sanlaville, Damien, Sarrazin, Elisabeth, Shen, Yiping, van Haelst, Mieke, and Silfhout, Anneke Vulto-van

Published
2014
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16. Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

Author

Krab, Lianne C., primary, Marcos-Alcalde, Iñigo, additional, Assaf, Melissa, additional, Balasubramanian, Meena, additional, Andersen, Janne Bayer, additional, Bisgaard, Anne-Marie, additional, Fitzpatrick, David R., additional, Gudmundsson, Sanna, additional, Huisman, Sylvia A., additional, Kalayci, Tugba, additional, Maas, Saskia M., additional, Martinez, Francisco, additional, McKee, Shane, additional, Menke, Leonie A., additional, Mulder, Paul A., additional, Murch, Oliver D., additional, Parker, Michael, additional, Pie, Juan, additional, Ramos, Feliciano J., additional, Rieubland, Claudine, additional, Rosenfeld Mokry, Jill A., additional, Scarano, Emanuela, additional, Shinawi, Marwan, additional, Gómez-Puertas, Paulino, additional, Tümer, Zeynep, additional, and Hennekam, Raoul C., additional

Published
2020
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17. Recommendations for genetic testing and counselling after sudden cardiac death: practical aspects for Swiss practice

Author

Medeiros Domingo, Argelia, Bolliger, Stephan, Gräni, Christoph, Rieubland, Claudine, Hersch, Deborah, Asatryan, Babken, Schyma, Christian, Saguner, Ardan Muammer, Wyler, Daniel, Bhuiyan, Zahir, Fellman, Florence, Osculati, Antonio Marco, Ringger, Rebekka, Fokstuen, Siv, Sabatasso, Sara, Wilhelm, Matthias, Michaud, Katarzyna, and Swiss Working Group on Sudden Cardiac Death

Subjects
Age Factors, Autopsy, Death, Sudden, Cardiac/etiology, Family/psychology, Forensic Pathology, Genetic Counseling, Genetic Predisposition to Disease, Genetic Testing, Humans, Switzerland, 360 Social problems & social services, education, 610 Medicine & health
Abstract

There is a need to standardise, within a coordinated Swiss framework, the practical aspects of genetic testing and genetic counselling on possibly inherited cardiovascular disorders in relatives of a sudden cardiac death (SCD) victim. Because of the major advances in genetic investigation techniques and recent publication of international guidelines in the field of cardiology, genetics and pathology, we consider it important to summarise the current evidence and propose an optimal approach to post-mortem genetic investigation for SCD victims and their families in Switzerland. In this article, we discuss important technical, financial and medico-ethical aspects, and provide updated information on specific situations in which forensic pathologists, general practitioners and cardiologists should suspect a genetic origin of the SCD. At present, the principles of benefit, the duty to warn and the impact of genetic information for family members at risk are considered as strong justifications for post-mortem disclosure and prevail over the arguments of respect for a deceased person's privacy and confidentiality. This paper underlines also the need to update and improve the general knowledge concerning the genetic risk of cardiovascular pathologies, the importance to perform an autopsy and post-mortem genetic testing in SCD victims, and to develop standardized post-mortem disclosure policy at national and international levels for SCD cases and relatives.

Published
2018

18. SCN5A mutations in 442 neonates and children: Genotype-phenotype correlation and identification of higher-risk subgroups

Author

Baruteau, Alban-Elouen, primary, Kyndt, Florence, additional, Behr, Elijah, additional, Vink, Arja, additional, Lachaud, Matthias, additional, Joong, Anna, additional, Schott, Jean-Jacques, additional, Horie, Minoru, additional, Denjoy, Isabelle, additional, Crotti, Lia, additional, Shimizu, Wataru, additional, Bos, Johan, additional, Stephenson, Elizabeth, additional, Wong, Leonie, additional, Abrams, Dominic, additional, Davis, Andrew, additional, Winbo, Annika, additional, Dubin, Anne, additional, Sanatani, Shubhayan, additional, Liberman, Leonardo, additional, Kaski, Juan-Pablo, additional, Rudic, Boris, additional, Kwok, Sit Yee, additional, Rieubland, Claudine, additional, Tfelt-Hansen, Jacob, additional, Van Hare, George, additional, Guyomarc’h-Delasalle, Béatrice, additional, Blom, Nico, additional, Wijeyeratne, Yanushi, additional, Gourraud, Jean-Baptiste, additional, Le Marec, Hervé, additional, Ozawa, Junichi, additional, Fressart, Véronique, additional, Lupoglazoff, Jean-Marc, additional, Dagradi, Federica, additional, Spazzolini, Carla, additional, Aiba, Takeshi, additional, Tester, David, additional, Zahavich, Laura, additional, Beauséjour-Ladouceur, Virginie, additional, Jadhav, Mangesh, additional, Skinner, Jonathan, additional, Franciosi, Sonia, additional, Krahn, Andrew, additional, Abdelsayed, Mena, additional, Ruben, Peter, additional, Yung, Tak-Cheung, additional, Ackerman, Michael, additional, Wilde, Arthur, additional, Schwartz, Peter, additional, and Probst, Vincent, additional

Published
2019
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19. Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6Avariants causing X-linked Kabuki syndrome type 2

Author

Faundes, Víctor, Goh, Stephanie, Akilapa, Rhoda, Bezuidenhout, Heidre, Bjornsson, Hans T., Bradley, Lisa, Brady, Angela F., Brischoux-Boucher, Elise, Brunner, Han, Bulk, Saskia, Canham, Natalie, Cody, Declan, Dentici, Maria Lisa, Digilio, Maria Cristina, Elmslie, Frances, Fry, Andrew E., Gill, Harinder, Hurst, Jane, Johnson, Diana, Julia, Sophie, Lachlan, Katherine, Lebel, Robert Roger, Byler, Melissa, Gershon, Eric, Lemire, Edmond, Gnazzo, Maria, Lepri, Francesca Romana, Marchese, Antonia, McEntagart, Meriel, McGaughran, Julie, Mizuno, Seiji, Okamoto, Nobuhiko, Rieubland, Claudine, Rodgers, Jonathan, Sasaki, Erina, Scalais, Emmanuel, Scurr, Ingrid, Suri, Mohnish, van der Burgt, Ineke, Matsumoto, Naomichi, Miyake, Noriko, Benoit, Valérie, Lederer, Damien, and Banka, Siddharth

Abstract

The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood.

Published
2021
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20. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

Author

Reinthaler, Eva M., Lal, Dennis, Lebon, Sebastien, Hildebrand, Michael S., Dahl, Hans-Henrik M., Regan, Brigid M., Feucht, Martha, Steinböck, Hannelore, Neophytou, Birgit, Ronen, Gabriel M., Roche, Laurian, Gruber-Sedlmayr, Ursula, Geldner, Julia, Haberlandt, Edda, Hoffmann, Per, Herms, Stefan, Gieger, Christian, Waldenberger, Melanie, Franke, Andre, Wittig, Michael, Schoch, Susanne, Becker, Albert J., Hahn, Andreas, Männik, Katrin, Toliat, Mohammad R., Winterer, Georg, Lerche, Holger, Nürnberg, Peter, Mefford, Heather, Scheffer, Ingrid E., Berkovic, Samuel F., Beckmann, Jacques S., Sander, Thomas, Jacquemont, Sebastien, Reymond, Alexandre, Zimprich, Fritz, Neubauer, Bernd A., Neubauer, Bernd, Mörzinger, Martina, Suls, Arvid, Weckhuysen, Sarah, Claes, Lieve, Deprez, Liesbet, Smets, Katrien, Van Dyck, Tine, Deconinck, Tine, De Jonghe, Peter, Møller, Rikke S., Klitten, Laura L., Hjalgrim, Helle, Campus, Kiel, Helbig, Ingo, Muhle, Hiltrud, Ostertag, Philipp, von Spiczak, Sarah, Stephani, Ulrich, Trucks, Holger, Elger, Christian E., Kleefuß-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Gaus, Verena, Janz, Dieter, Schmitz, Bettina, Rosenow, Felix, Klein, Karl Martin, Reif, Philipp S., Oertel, Wolfgang H., Hamer, Hajo M., Becker, Felicitas, Weber, Yvonne, Koeleman, Bobby P.C., de Kovel, Carolien, Lindhout, Dick, Ameil, Agnès, Andrieux, Joris, Bouquillon, Sonia, Boute, Odile, de Flandre, Jeanne, Cuisset, Jean Marie, Cuvellier, Jean-Christophe, Salengro, Roger, David, Albert, de Vries, Bert, Delrue, Marie-Ange, Doco-Fenzy, Martine, Fernandez, Bridget A., Heron, Delphine, Keren, Boris, Lebel, Robert, Leheup, Bruno, Lewis, Suzanne, Mencarelli, Maria Antonietta, Mignot, Cyril, Minet, Jean-Claude, Moerman, Alexandre, Morice-Picard, Fanny, Mucciolo, Mafalda, Ounap, Katrin, Pasquier, Laurent, Petit, Florence, Ragona, Francesca, Rajcan-Separovic, Evica, Renieri, Alessandra, Rieubland, Claudine, Sanlaville, Damien, Sarrazin, Elisabeth, Shen, Yiping, van Haelst, Mieke, and Silfhout, Anneke Vulto-van

Abstract

Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a complex genetic etiology is assumed in the majority of affected individuals. The present study tested whether six large recurrent copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 previously associated with neurodevelopmental disorders also increase risk of RE. Our association analyses revealed a significant excess of the 600 kb genomic duplication at the 16p11.2 locus (chr16: 29.5-30.1 Mb) in 393 unrelated patients with typical (n = 339) and atypical (ARE; n = 54) RE compared with the prevalence in 65 046 European population controls (5/393 cases versus 32/65 046 controls; Fisher's exact test P = 2.83 × 10−6, odds ratio = 26.2, 95% confidence interval: 7.9-68.2). In contrast, the 16p11.2 duplication was not detected in 1738 European epilepsy patients with either temporal lobe epilepsy (n = 330) and genetic generalized epilepsies (n = 1408), suggesting a selective enrichment of the 16p11.2 duplication in idiopathic focal childhood epilepsies (Fisher's exact test P = 2.1 × 10−4). In a subsequent screen among children carrying the 16p11.2 600 kb rearrangement we identified three patients with RE-spectrum epilepsies in 117 duplication carriers (2.6%) but none in 202 carriers of the reciprocal deletion. Our results suggest that the 16p11.2 duplication represents a significant genetic risk factor for typical and atypical RE

Published
2017

21. SCN5A mutations in 442 neonates and children: genotype–phenotype correlation and identification of higher-risk subgroups

Author

Baruteau, Alban-Elouen, primary, Kyndt, Florence, additional, Behr, Elijah R, additional, Vink, Arja S, additional, Lachaud, Matthias, additional, Joong, Anna, additional, Schott, Jean-Jacques, additional, Horie, Minoru, additional, Denjoy, Isabelle, additional, Crotti, Lia, additional, Shimizu, Wataru, additional, Bos, Johan M, additional, Stephenson, Elizabeth A, additional, Wong, Leonie, additional, Abrams, Dominic J, additional, Davis, Andrew M, additional, Winbo, Annika, additional, Dubin, Anne M, additional, Sanatani, Shubhayan, additional, Liberman, Leonardo, additional, Kaski, Juan Pablo, additional, Rudic, Boris, additional, Kwok, Sit Yee, additional, Rieubland, Claudine, additional, Tfelt-Hansen, Jacob, additional, Van Hare, George F, additional, Guyomarc’h-Delasalle, Béatrice, additional, Blom, Nico A, additional, Wijeyeratne, Yanushi D, additional, Gourraud, Jean-Baptiste, additional, Le Marec, Hervé, additional, Ozawa, Junichi, additional, Fressart, Véronique, additional, Lupoglazoff, Jean-Marc, additional, Dagradi, Federica, additional, Spazzolini, Carla, additional, Aiba, Takeshi, additional, Tester, David J, additional, Zahavich, Laura A, additional, Beauséjour-Ladouceur, Virginie, additional, Jadhav, Mangesh, additional, Skinner, Jonathan R, additional, Franciosi, Sonia, additional, Krahn, Andrew D, additional, Abdelsayed, Mena, additional, Ruben, Peter C, additional, Yung, Tak-Cheung, additional, Ackerman, Michael J, additional, Wilde, Arthur A, additional, Schwartz, Peter J, additional, and Probst, Vincent, additional

Published
2018
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23. Phenotypes and genotypes in individuals with SMC1A variants

Author

Huisman, Sylvia, primary, Mulder, Paul A., additional, Redeker, Egbert, additional, Bader, Ingrid, additional, Bisgaard, Anne‐Marie, additional, Brooks, Alice, additional, Cereda, Anna, additional, Cinca, Constanza, additional, Clark, Dinah, additional, Cormier‐Daire, Valerie, additional, Deardorff, Matthew A., additional, Diderich, Karin, additional, Elting, Mariet, additional, van Essen, Anthonie, additional, FitzPatrick, David, additional, Gervasini, Cristina, additional, Gillessen‐Kaesbach, Gabriele, additional, Girisha, Katta M., additional, Hilhorst‐Hofstee, Yvonne, additional, Hopman, Saskia, additional, Horn, Denise, additional, Isrie, Mala, additional, Jansen, Sandra, additional, Jespersgaard, Cathrine, additional, Kaiser, Frank J., additional, Kaur, Maninder, additional, Kleefstra, Tjitske, additional, Krantz, Ian D., additional, Lakeman, Phillis, additional, Landlust, Annemiek, additional, Lessel, Davor, additional, Michot, Caroline, additional, Moss, Jo, additional, Noon, Sarah E., additional, Oliver, Chris, additional, Parenti, Ilaria, additional, Pie, Juan, additional, Ramos, Feliciano J., additional, Rieubland, Claudine, additional, Russo, Silvia, additional, Selicorni, Angelo, additional, Tümer, Zeynep, additional, Vorstenbosch, Rieneke, additional, Wenger, Tara L., additional, van Balkom, Ingrid, additional, Piening, Sigrid, additional, Wierzba, Jolanta, additional, and Hennekam, Raoul C., additional

Published
2017
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25. 96-77: Phenotypic Spectrum of HCN4 Mutations: Further Evidence of involvement in Left Ventricular Non-Compaction, Sick Sinus Syndrome, and Mood- and Anxiety Disorder

Author

Servatius, Helge, primary, Pless, Stephan A., additional, Schaller, Andre, additional, Lynagh, Timothy, additional, Tanner, Hildegard, additional, Rieubland, Claudine, additional, Roten, Laurent, additional, Seiler, Jens, additional, Noti, Fabian, additional, Tran, V. Nam, additional, Haeberlin, Andreas, additional, Lam, Anna, additional, Gallati, Sabina, additional, Fuhrer, Juerg, additional, and Domingo, Argelia Medeiros, additional

Published
2016
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26. Recommendations for genetic testing and counselling after sudden cardiac death: practical aspects for Swiss practice.

Author

Medeiros Domingo A, Bolliger S, Gräni C, Rieubland C, Hersch D, Asatryan B, Schyma C, Saguner A, Wyler D, Bhuiyan Z, Fellman F, Osculati AM, Ringger R, Fokstuen S, Sabatasso S, Wilhelm M, and Michaud K

Subjects
Age Factors, Autopsy, Forensic Pathology, Humans, Switzerland, Death, Sudden, Cardiac etiology, Family psychology, Genetic Counseling, Genetic Predisposition to Disease, Genetic Testing
Abstract

There is a need to standardise, within a coordinated Swiss framework, the practical aspects of genetic testing and genetic counselling on possibly inherited cardiovascular disorders in relatives of a sudden cardiac death (SCD) victim. Because of the major advances in genetic investigation techniques and recent publication of international guidelines in the field of cardiology, genetics and pathology, we consider it important to summarise the current evidence and propose an optimal approach to post-mortem genetic investigation for SCD victims and their families in Switzerland. In this article, we discuss important technical, financial and medico-ethical aspects, and provide updated information on specific situations in which forensic pathologists, general practitioners and cardiologists should suspect a genetic origin of the SCD. At present, the principles of benefit, the duty to warn and the impact of genetic information for family members at risk are considered as strong justifications for post-mortem disclosure and prevail over the arguments of respect for a deceased person's privacy and confidentiality. This paper underlines also the need to update and improve the general knowledge concerning the genetic risk of cardiovascular pathologies, the importance to perform an autopsy and post-mortem genetic testing in SCD victims, and to develop standardized post-mortem disclosure policy at national and international levels for SCD cases and relatives.

Published
2018
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27. Sudden cardiac death in forensic medicine – Swiss recommendations for a multidisciplinary approach.

Author

Wilhelm M, Bolliger SA, Bartsch C, Fokstuen S, Gräni C, Martos V, Medeiros Domingo A, Osculati A, Rieubland C, Sabatasso S, Saguner AM, Schyma C, Tschui J, Wyler D, Bhuiyan ZA, Fellmann F, and Michaud K

Subjects
Age Factors, Cause of Death, Communication, Genetic Predisposition to Disease, Humans, Switzerland, Autopsy methods, Death, Sudden, Cardiac etiology, Family, Forensic Pathology methods, Genetic Testing methods
Abstract

Sudden cardiac death (SCD) is by definition unexpected and cardiac in nature. The investigation is almost invariably performed by a forensic pathologist. Under these circumstances the role of the forensic pathologist is twofold: (1.) to determine rapidly and efficiently the cause and manner of death and (2.) to initiate a multidisciplinary process in order to prevent further deaths in existing family members. If the death is determined to be due to "natural" causes the district attorney in charge often refuses further examinations. However, additional examinations, i.e. extensive histopathological investigations and/or molecular genetic analyses, are necessary in many cases to clarify the cause of death. The Swiss Society of Legal Medicine created a multidisciplinary working group together with clinical and molecular geneticists and cardiologists in the hope of harmonising the approach to investigate SCD. The aim of this paper is to close the gap between the Swiss recommendations for routine forensic post-mortem cardiac examination and clinical recommendations for genetic testing of inherited cardiac diseases; this is in order to optimise the diagnostic procedures and preventive measures for living family members. The key points of the recommendations are (1.) the forensic autopsy procedure for all SCD victims under 40 years of age, (2.) the collection and storage of adequate samples for genetic testing, (3.) communication with the families, and (4.) a multidisciplinary approach including cardiogenetic counselling.

Published
2015
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