12 results on '"Van Hoof, Evelien"'
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2. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria(European Journal of Human Genetics, (2021), 29, 8, (1186-1197), 10.1038/s41431-021-00858-1)
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Genetica Klinische Genetica, Cancer, Child Health, Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, Lipska-Ziętkiewicz, Beata S., Genetica Klinische Genetica, Cancer, Child Health, Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, and Lipska-Ziętkiewicz, Beata S.
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- 2024
3. Next-generation sequencing in prenatal setting: Some examples of unexpected variant association
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Rinaldi, Berardo, Race, Valerie, Corveleyn, Anniek, Van Hoof, Evelien, Bauters, Marijke, Van Den Bogaert, Kris, Denayer, Ellen, de Ravel, Thomy, Legius, Eric, Baldewijns, Marcella, Aertsen, Michael, Lewi, Liesbeth, De Catte, Luc, Breckpot, Jeroen, and Devriendt, Koenraad
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- 2020
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4. BCAP31-related syndrome: The first de novo report
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Rinaldi, Berardo, Van Hoof, Evelien, Corveleyn, Anniek, Van Cauter, Annick, and de Ravel, Thomy
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- 2020
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5. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
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Verheije, Rosalind, Kupchik, Gabriel S., Isidor, Bertrand, Kroes, Hester Y., Lynch, Sally Ann, Hawkes, Lara, Hempel, Maja, Gelb, Bruce D., Ghoumid, Jamal, D’Amours, Guylaine, Chandler, Kate, Dubourg, Christèle, Loddo, Sara, Tümer, Zeynep, Shaw-Smith, Charles, Nizon, Mathilde, Shevell, Michael, Van Hoof, Evelien, Anyane-Yeboa, Kwame, Cerbone, Gaetana, Clayton-Smith, Jill, Cogné, Benjamin, Corre, Pierre, Corveleyn, Anniek, De Borre, Marie, Hjortshøj, Tina Duelund, Fradin, Mélanie, Gewillig, Marc, Goldmuntz, Elizabeth, Hens, Greet, Lemyre, Emmanuelle, Journel, Hubert, Kini, Usha, Kortüm, Fanny, Le Caignec, Cedric, Novelli, Antonio, Odent, Sylvie, Petit, Florence, Revah-Politi, Anya, Stong, Nicholas, Strom, Tim M., van Binsbergen, Ellen, DDD study, Devriendt, Koenraad, and Breckpot, Jeroen
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- 2019
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6. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
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Savige, Judy, primary, Storey, Helen, additional, Watson, Elizabeth, additional, Hertz, Jens Michael, additional, Deltas, Constantinos, additional, Renieri, Alessandra, additional, Mari, Francesca, additional, Hilbert, Pascale, additional, Plevova, Pavlina, additional, Byers, Peter, additional, Cerkauskaite, Agne, additional, Gregory, Martin, additional, Cerkauskiene, Rimante, additional, Ljubanovic, Danica Galesic, additional, Becherucci, Francesca, additional, Errichiello, Carmela, additional, Massella, Laura, additional, Aiello, Valeria, additional, Lennon, Rachel, additional, Hopkinson, Louise, additional, Koziell, Ania, additional, Lungu, Adrian, additional, Rothe, Hansjorg Martin, additional, Hoefele, Julia, additional, Zacchia, Miriam, additional, Martic, Tamara Nikuseva, additional, Gupta, Asheeta, additional, van Eerde, Albertien, additional, Gear, Susie, additional, Landini, Samuela, additional, Palazzo, Viviana, additional, al-Rabadi, Laith, additional, Claes, Kathleen, additional, Corveleyn, Anniek, additional, Van Hoof, Evelien, additional, van Geel, Micheel, additional, Williams, Maggie, additional, Ashton, Emma, additional, Belge, Hendica, additional, Ars, Elisabeth, additional, Bierzynska, Agnieszka, additional, Gangemi, Concetta, additional, and Lipska-Ziętkiewicz, Beata S., additional
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- 2023
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7. Guidelines for Genetic Testing and Management of Alport Syndrome
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Genetica Klinische Genetica, Child Health, Cancer, Savige, Judy, Lipska-Zietkiewicz, Beata S, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, Al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabet, Bierzynska, Agnieszka, Gangemi, Concetta, Renieri, Alessandra, Storey, Helen, Flinter, Frances, Genetica Klinische Genetica, Child Health, Cancer, Savige, Judy, Lipska-Zietkiewicz, Beata S, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, Al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabet, Bierzynska, Agnieszka, Gangemi, Concetta, Renieri, Alessandra, Storey, Helen, and Flinter, Frances
- Published
- 2022
8. Guidelines for Genetic Testing and Management of Alport Syndrome
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Savige, Judy, primary, Lipska-Zietkiewicz, Beata S., additional, Watson, Elizabeth, additional, Hertz, Jens Michael, additional, Deltas, Constantinos, additional, Mari, Francesca, additional, Hilbert, Pascale, additional, Plevova, Pavlina, additional, Byers, Peter, additional, Cerkauskaite, Agne, additional, Gregory, Martin, additional, Cerkauskiene, Rimante, additional, Ljubanovic, Danica Galesic, additional, Becherucci, Francesca, additional, Errichiello, Carmela, additional, Massella, Laura, additional, Aiello, Valeria, additional, Lennon, Rachel, additional, Hopkinson, Louise, additional, Koziell, Ania, additional, Lungu, Adrian, additional, Rothe, Hansjorg Martin, additional, Hoefele, Julia, additional, Zacchia, Miriam, additional, Martic, Tamara Nikuseva, additional, Gupta, Asheeta, additional, van Eerde, Albertien, additional, Gear, Susie, additional, Landini, Samuela, additional, Palazzo, Viviana, additional, al-Rabadi, Laith, additional, Claes, Kathleen, additional, Corveleyn, Anniek, additional, Van Hoof, Evelien, additional, van Geel, Micheel, additional, Williams, Maggie, additional, Ashton, Emma, additional, Belge, Hendica, additional, Ars, Elisabet, additional, Bierzynska, Agnieszka, additional, Gangemi, Concetta, additional, Renieri, Alessandra, additional, Storey, Helen, additional, and Flinter, Frances, additional
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- 2022
- Full Text
- View/download PDF
9. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
- Author
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Genetica Klinische Genetica, Cancer, Child Health, Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, Lipska-Ziętkiewicz, Beata S., Genetica Klinische Genetica, Cancer, Child Health, Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, and Lipska-Ziętkiewicz, Beata S.
- Published
- 2021
10. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
- Author
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Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Verheije, Rosalind, Kupchik, Gabriel S., Isidor, Bertrand, Kroes, Hester Y., Lynch, Sally Ann, Hawkes, Lara, Hempel, Maja, Gelb, Bruce D., Ghoumid, Jamal, D’Amours, Guylaine, Chandler, Kate, Dubourg, Christèle, Loddo, Sara, Tümer, Zeynep, Shaw-Smith, Charles, Nizon, Mathilde, Shevell, Michael, Van Hoof, Evelien, Anyane-Yeboa, Kwame, Cerbone, Gaetana, Clayton-Smith, Jill, Cogné, Benjamin, Corre, Pierre, Corveleyn, Anniek, De Borre, Marie, Hjortshøj, Tina Duelund, Fradin, Mélanie, Gewillig, Marc, Goldmuntz, Elizabeth, Hens, Greet, Lemyre, Emmanuelle, Journel, Hubert, Kini, Usha, Kortüm, Fanny, Le Caignec, Cedric, Novelli, Antonio, Odent, Sylvie, Petit, Florence, Revah-Politi, Anya, Stong, Nicholas, Strom, Tim M., van Binsbergen, Ellen, Devriendt, Koenraad, Breckpot, Jeroen, DDD Study, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Verheije, Rosalind, Kupchik, Gabriel S., Isidor, Bertrand, Kroes, Hester Y., Lynch, Sally Ann, Hawkes, Lara, Hempel, Maja, Gelb, Bruce D., Ghoumid, Jamal, D’Amours, Guylaine, Chandler, Kate, Dubourg, Christèle, Loddo, Sara, Tümer, Zeynep, Shaw-Smith, Charles, Nizon, Mathilde, Shevell, Michael, Van Hoof, Evelien, Anyane-Yeboa, Kwame, Cerbone, Gaetana, Clayton-Smith, Jill, Cogné, Benjamin, Corre, Pierre, Corveleyn, Anniek, De Borre, Marie, Hjortshøj, Tina Duelund, Fradin, Mélanie, Gewillig, Marc, Goldmuntz, Elizabeth, Hens, Greet, Lemyre, Emmanuelle, Journel, Hubert, Kini, Usha, Kortüm, Fanny, Le Caignec, Cedric, Novelli, Antonio, Odent, Sylvie, Petit, Florence, Revah-Politi, Anya, Stong, Nicholas, Strom, Tim M., van Binsbergen, Ellen, Devriendt, Koenraad, Breckpot, Jeroen, and DDD Study
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- 2019
11. Heterozygous loss-of-function variants of MEIS2cause a triad of palatal defects, congenital heart defects, and intellectual disability
- Author
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Verheije, Rosalind, Kupchik, Gabriel S., Isidor, Bertrand, Kroes, Hester Y., Lynch, Sally Ann, Hawkes, Lara, Hempel, Maja, Gelb, Bruce D., Ghoumid, Jamal, D’Amours, Guylaine, Chandler, Kate, Dubourg, Christèle, Loddo, Sara, Tümer, Zeynep, Shaw-Smith, Charles, Nizon, Mathilde, Shevell, Michael, Van Hoof, Evelien, Anyane-Yeboa, Kwame, Cerbone, Gaetana, Clayton-Smith, Jill, Cogné, Benjamin, Corre, Pierre, Corveleyn, Anniek, De Borre, Marie, Hjortshøj, Tina Duelund, Fradin, Mélanie, Gewillig, Marc, Goldmuntz, Elizabeth, Hens, Greet, Lemyre, Emmanuelle, Journel, Hubert, Kini, Usha, Kortüm, Fanny, Le Caignec, Cedric, Novelli, Antonio, Odent, Sylvie, Petit, Florence, Revah-Politi, Anya, Stong, Nicholas, Strom, Tim M., van Binsbergen, Ellen, Devriendt, Koenraad, and Breckpot, Jeroen
- Abstract
Deletions on chromosome 15q14 are a known chromosomal cause of cleft palate, typically co-occurring with intellectual disability, facial dysmorphism, and congenital heart defects. The identification of patients with loss-of-function variants in MEIS2, a gene within this deletion, suggests that these features are attributed to haploinsufficiency of MEIS2. To further delineate the phenotypic spectrum of the MEIS2-related syndrome, we collected 23 previously unreported patients with either a de novo sequence variant in MEIS2(9 patients), or a 15q14 microdeletion affecting MEIS2(14 patients). All but one de novo MEIS2variant were identified by whole-exome sequencing. One variant was found by targeted sequencing of MEIS2in a girl with a clinical suspicion of this syndrome. In addition to the triad of palatal defects, heart defects, and developmental delay, heterozygous loss of MEIS2results in recurrent facial features, including thin and arched eyebrows, short alae nasi, and thin vermillion. Genotype–phenotype comparison between patients with 15q14 deletions and patients with sequence variants or intragenic deletions within MEIS2, showed a higher prevalence of moderate-to-severe intellectual disability in the former group, advocating for an independent locus for psychomotor development neighboring MEIS2.
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- 2019
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12. A novel heterozygous likely pathogenic SLC5A2 variant in a diabetic patient with glucosuria and aminoaciduria.
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Inthasot S, Vanderhulst J, Janssens P, Van Daele S, Van Hoof E, Kint C, Iconaru L, and de Filette J
- Abstract
Summary: Familial renal glucosuria (FRG) is a rare renal tubular disorder characterized by increased urinary glucose excretion despite normoglycemia. It is most commonly caused by pathogenic variants in the solute carrier family V member 2 (SLC5A2) gene. This gene encodes the sodium-glucose cotransporter 2, crucial for glucose reabsorption. We report the case of a 44-year-old male referred to the endocrinology outpatient clinic for unexplained glucosuria despite well-controlled diabetes mellitus with metformin and gliclazide therapy. His main complaints were nocturia and an unintentional 5 kg weight loss in 1 year. A 24-h urinary collection revealed overt glucosuria (23.3 g/1.73 m2/24 h), generalized aminoaciduria, and increased uric acid excretion (fractional excretion: 6.4%). Whole-exome sequencing revealed a novel heterozygous c.469-1G>A likely pathogenic variant in the SLC5A2 gene. Specific analysis of the maturity-onset diabetes of the young type (MODY) gene panel showed no pathogenic variants in the hepatocyte nuclear factor-1A (HNF-1A; MODY3) nor in other MODY-associated genes. We assume that the association of glucosuria, aminoaciduria, and increased uric acid excretion can be explained by the combination of diabetes and the likely pathogenic SLC5A2 variant in this patient. In conclusion, we describe a well-controlled diabetic patient with FRG, associated with a novel heterozygous c.469-1G>A likely pathogenic variant in the SLC5A2 gene., Learning Points: The diagnosis of a renal tubular disorder should be considered in patients with unexplained glucosuria and diabetes mellitus, especially if the latter is well controlled. FRG usually presents with glucosuria but may be associated with generalized aminoaciduria and hyperuricosuria. Genetic analysis should be considered in patients with young-onset diabetes and glucosuria, particularly with a positive family history.
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- 2024
- Full Text
- View/download PDF
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