Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Isabelle Maystadt"'
Autor:
Newell Belnap, Bert B.A. de Vries, Austin Larson, Rolph Pfundt, Marijke R. Wevers, Valérie Benoit, Markus Zweier, Pascal Joset, Anita Rauch, Angela Bahr, Jeroen Mourmans, Patricia G Wheeler, Or Gozani, Marisa V. Andrews, Monica H. Wojcik, Didier Lacombe, Sarah Grotto, Marwan Shinawi, Lot Snijders Blok, Conny M. A. van Ravenswaaij-Arts, Keri Ramsey, Deepanwita Sengupta, Mariarosaria Lang-Muritano, Isabelle Maystadt, Katharina Steindl, Paolo Zanoni, Antonio Vitobello, Geoffroy Delplancq, Katrin Õunap, Tania Attié-Bitach, Heinrich Sticht, Giulia Petrilli, Laurence Faivre, Vassilis Tsatsaris
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 23 (8)
Genetics in Medicine, 23(8), 1474-1483. Nature Publishing Group
Genetics in Medicine, 23, 1474-1483
Genetics in Medicine, 23, 8, pp. 1474-1483
Genetics in Medicine, 23 (8)
Genetics in Medicine, 23(8), 1474-1483. Nature Publishing Group
Genetics in Medicine, 23, 1474-1483
Genetics in Medicine, 23, 8, pp. 1474-1483
Purpose Despite a few recent reports of patients harboring truncating variants in NSD2, a gene considered critical for the Wolf–Hirschhorn syndrome (WHS) phenotype, the clinical spectrum associated with NSD2 pathogenic variants remains poorly under
Autor:
Hélène Pendeville, Isabelle Maystadt, Ahmad Merhi, Isabelle Manfroid, Laurence Faivre, Stephen Freeman, Stéphanie Moortgat, Valérie Benoit, Jordane Bourdouxhe, Christophe Philippe
Publikováno v:
Human Mutation. 42:827-834
Mental deficiency, epilepsy, hypogonadism, microcephaly and obesity (MEHMO) syndrome is a severe X-linked syndrome caused by pathogenic variants in EIF2S3. The gene encodes the γ subunit of the eukaryotic translation initiation factor-2, eIF2, essen
Autor:
Giulio Piluso, Katharina Wimmer, Veronica Saletti, Eniko K. Pivnick, Geraldine Kelly-Mancuso, Karen W. Gripp, Cristin Griffis, Louanne Hudgins, Alessandro De Luca, Michael F. Wangler, M. Daniela D'Agostino, Marica Eoli, Cynthia M. Powell, Laura A. Baker, Mayra Martinez Ojeda, Silvia Esposito, Elizabeth A. Sellars, Kory Keller, David D. Weaver, James T. Bennett, Nicole J. Ullrich, Allison L. Goetsch, Donald Basel, Bruce R. Korf, Stephanie Fox, Katelyn Hodge, Laura Dosa, Robert S. Greenwood, Mario Bengala, Andrea M. Lewis, Ruth Sheffer, Valentina Pinna, Fanny Cortés, Dusica Babovic-Vuksanovic, Aaina Kochhar, Rosemarie Smith, Concepción Hernández-Chico, Elizabeth Siqveland, Robert Listernick, Lola K. Clarkson, Punita Gupta, E. Haan, Martin B. Delatycki, Amy Theos, Noa Ruhrman Shahar, Teresa Giugliano, Carey McDougall, Mitch Cunningham, David W. Stockton, Tom Callens, Maria Cristina Digilio, Yunjia Chen, Ludwine Messiaen, Eva Trevisson, Samantha A. Schrier Vergano, Caleb Rogers, Magdalena Koczkowska, Kathleen Claes, Christine Fauth, Jan Liebelt, Pamela Trapane, Eric Johns, John M. Slopis, Chelsea Chambers, Tamara L. Haygarth, Lesley K. McGregor, Alberto Spalice, Małgorzata J.M. Nowaczyk, Mary Ella M Pierpont, Kaleb Yohay, Alicia Gomes, Vickie Zurcher, Gail E. Tomlinson, Angie W. Lichty, Stephanie E Wallace, Rachel K. Hachen, Isabelle Maystadt, S. Lane Rutledge, Yael Goldberg, Grace Tran, Ulrich A. Schatz, Allison Schreiber, Jenneke van den Ende, Michael J. Lyons, Mary Louise Freckmann, Kim Armfield Uhas, Alesha D. Hicks, Maurizio Clementi, Haley Streff, June Ortenberg, John Pappas, Nancy J. Mendelsohn, Sandra Janssens, Karin Panzer, Yolanda Martin, Elaine H. Zackai, Sandra Giustini, Linlea Armstrong, Katherine A. Bosanko, Angela Sharp, Daryl A. Scott, Jonathan Zonana, Robert J. Hopkin, Eric Legius, Dinel A. Pond, Daniela Melis, Claudia Santoro, Sarah A. Sandaradura
Publikováno v:
Human Mutation. 41:299-315
We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating NF1 hotspots in the University of Alabama at Birmingham (UAB) cohort, together identified in 1.8% o
Autor:
Elke de Boer, Burcu Yaldiz, Anne-Sophie Denommé-Pichon, Leslie Matalonga, Steve Laurie, Wouter Steyaert, Rick de Reuver, Christian Gilissen, Michael Kwint, Rolph Pfundt, Alain Verloes, Michèl A.A.P. Willemsen, Bert B.A. de Vries, A. Vitobello, Tjitske Kleefstra, Lisenka E.L.M. Vissers, Enzo Cohen, Isabel Cuesta, Daniel Danis, Fei Gao, Rita Horvath, Mridul Johari, Lennart Johanson, Shuang Li, Heba Morsy, Isabelle Nelson, Ida Paramonov, Iris B.A.W. te Paske, Peter Robinson, Marco Savarese, Ana Töpf, Aurélien Trimouille, Joeri K. van der Velde, Jana Vandrovcova, Antonio Vitobello, Birte Zurek, Kristin M. Abbot, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Kornelia Ellwanger, Laurence Faivre, Holm Graessner, Tobias B. Haack, Anna Hammarsjö, Marketa Havlovicova, Alexander Hoischen, Anne Hugon, Adam Jackson, Mieke Kerstjens, Anna Lindstrand, Estrella López Martín, Milan Macek, Isabelle Maystadt, Manuela Morleo, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Michele Pinelli, Simone Pizzi, Manuel Posada, Francesca C. Radio, Alessandra Renieri, Caroline Rooryck, Lukas Ryba, Gijs W.E. Santen, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Lisenka Vissers, Pavel Votypka, Klea Vyshka, Kristina Zguro
Publikováno v:
European Journal of Medical Genetics, 65(1). ELSEVIER
European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65, 1
European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65, 1
Almost half of all individuals affected by intellectual disability (ID) remain undiagnosed. In the Solve-RD project, exome sequencing (ES) datasets from unresolved individuals with (syndromic) ID (n = 1,472 probands) are systematically reanalyzed, st
Autor:
Marie-Cécile Nassogne, Julie Désir, Isabelle Maystadt, Benoit, Sébastien Boulanger, Stéphanie Moortgat, Damien Lederer, Hélène Pendeville
Publikováno v:
American Journal of Medical Genetics Part A. 170:2927-2933
X-chromosome exome sequencing was performed to identify the genetic cause of syndromic intellectual disability in two unrelated families with suspected X-linked inheritance. In both families, affected males presented with severe intellectual disabili
Autor:
Sébastien Boulanger, Marga Buzatu, Sandrine Mary, Isabelle Maystadt, Alban Ziegler, Damien Lederer, Marie Deprez, Agnès Guichet, Philippe Clapuyt, Valérie Benoit, Stéphanie Moortgat, Estelle Colin, Dominique Bonneau
Publikováno v:
Eur J Med Genet
Eur J Med Genet, 2018, 61 (8), pp.442-450. ⟨10.1016/j.ejmg.2018.03.002⟩
European Journal of Medical Genetics, Vol. 61, no. 8, p. 442-450 (2018)
Eur J Med Genet, 2018, 61 (8), pp.442-450. ⟨10.1016/j.ejmg.2018.03.002⟩
European Journal of Medical Genetics, Vol. 61, no. 8, p. 442-450 (2018)
International audience; Mutations in the oligophrenin 1 gene (OPHN1) have been identified in patients with X-linked intellectual disability (XLID) associated with cerebellar hypoplasia and ventriculomegaly, suggesting it could be a recognizable syndr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9182fd559b257cbb403b5ca906da8dbf
https://hal.archives-ouvertes.fr/hal-02082991
https://hal.archives-ouvertes.fr/hal-02082991
Autor:
Elizabeth Siqveland, Concepción Hernández-Chico, Jonathan Zonana, Melissa Crenshaw, Maurice J. Mahoney, Eric Legius, Helene Verhelst, Débora Romeo Bertola, Karen W. Gripp, Tom Callens, Jaishri O. Blakeley, Nicole J. Ullrich, Arelis Martir-Negron, Karol Rubin, Marica Eoli, Margaret R. Wallace, Jose Guevara-Campos, Karin Dahan, Zhenbin Chen, Patricia Galvin-Parton, Elaine H. Zackai, Isabelle Maystadt, Radhika Dhamija, Lane S. Rutledge, Meriel McEntagart, Rick van Minkelen, Geert Mortier, Meena Balasubramanian, La Donna Immken, Maria Daniela D'Agostino, Anne Destree, Alicia Gomes, Kenneth N. Rosenbaum, Rhonda L. Schonberg, Emma Burkitt-Wright, Meng-Chang Hsiao, Meena Upadhyaya, Sherrell Johnson, Meredith Seidel, Alessandro De Luca, Troy A. Becker, David T. Miller, Veronica Saletti, Bruce R. Korf, Shay Ben-Shachar, Carey McDougall, David W. Stockton, Magdalena Koczkowska, Kathleen Claes, Laura Russell, Ludwine Messiaen, D. Gareth Evans, Mitch Cunningham, Allison Schreiber, Scott R. Plotkin, Dinel A. Pond, Kristi J. Jones, Vickie Zurcher, Jaya K. George-Abraham, Alison Callaway, Beth Keena, Yunjia Chen, Neil A. Hanchard, Angela Sharp, Yoon Sim Yap, Karin Soares Gonçalves Cunha, Nancy J. Mendelsohn, Jenny Morton, Christopher P. Barnett, Yolanda Martin, Aaina Kochhar, Eva Trevisson, Jan Liebelt, John Pappas, Sandra Janssens
Publikováno v:
AMERICAN JOURNAL OF HUMAN GENETICS
American Journal of Human Genetics
Koczkowska, M, Burkitt Wright, E, Evans, D G, Messiaen, L M & et al 2018, ' Genotype-phenotype correlation in NF1 patients: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844-848. ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2017.12.001
American Journal of Human Genetics, 102(1), 69-87. Cell Press
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
The American journal of human genetics
American Journal of Human Genetics
Koczkowska, M, Burkitt Wright, E, Evans, D G, Messiaen, L M & et al 2018, ' Genotype-phenotype correlation in NF1 patients: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844-848. ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2017.12.001
American Journal of Human Genetics, 102(1), 69-87. Cell Press
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
The American journal of human genetics
Neurofibromatosis type 1 (NF1), one of the most common genetic disorders with an estimated prevalence of 1:3000 live births, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3b0fb40e7374e1b5e11ec8bd5755064
https://hdl.handle.net/1854/LU-8546030
https://hdl.handle.net/1854/LU-8546030
Autor:
Rolph Pfundt, Sarju G. Mehta, Amy Lawson Yuen, Gunnar Houge, Marie-Cécile Nassogne, Nicola S. Cooper, Bjørn Ivar Haukanes, Ingvild Aukrust, Siren Berland, Pradeep Vasudevan, Mónica Roselló, Stéphanie Moortgat, Nina Powell-Hamilton, Charlotte von der Lippe, Barbara van Loon, Ruth Newbury-Ecob, Alain Verloes, Laura A. Baker, Trine Prescott, Andrew O.M. Wilkie, Emma Wakeling, Ddd Study, Isabelle Maystadt, Francisco Martínez, Laurence Faivre, Alfonso Caro-Llopis, Karen J. Low, Emma Kivuva, François-Guillaume Debray, Thatjana Gardeitchik, Louise C. Wilson, Christine Verellen-Dumoulin, Valérie Benoit
Publikováno v:
European Journal of Human Genetics, 26, 64-74
European Journal of Human Genetics, Vol. 26, no. 1, p. 64-74 (2018)
EUROPEAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
European Journal of Human Genetics, 26, 1, pp. 64-74
European Journal of Human Genetics, Vol. 26, no. 1, p. 64-74 (2018)
EUROPEAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
European Journal of Human Genetics, 26, 1, pp. 64-74
Whole-gene duplications and missense variants in the HUWE1 gene (NM_031407.6) have been reported in association with intellectual disability (ID). Increased gene dosage has been observed in males with non-syndromic mild to moderate ID with speech del
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75c6a61c0cf0087763ade5cff5db7c09
http://hdl.handle.net/2066/183870
http://hdl.handle.net/2066/183870
Autor:
Shehla Mohammed, Soo-Mi Park, David R. FitzPatrick, Alex Magee, Damien Lederer, Michael Parker, Alan Fryer, Katherine Lachlan, Deborah J. Shears, Deciphering Developmental Disorders Study, Valérie Benoit, Shane McKee, Isabelle Maystadt, Pradeep C. Vasudevan
Publikováno v:
American Journal of Medical Genetics Part A. 167:2231-2237
De novo mutations (DNM) in SYNGAP1, encoding Ras/Rap GTPase-activating protein SynGAP, have been reported in individuals with nonsyndromic intellectual disability (ID). We identified 10 previously unreported individuals with SYNGAP1 DNM; seven via th
Autor:
Isabelle Maystadt, Daniel Amsallem, Boris Keren, Delphine Héron, Christel Depienne, Lyse Ruaud, Valérie Benoit, Agnès Guët, Caroline Nava, Damien Lederer, Christelle Ohl, Juliette Piard, Cyril Mignot
Publikováno v:
European Journal of Medical Genetics. 58:168-174
The Dual-specify tyrosine phosphorylation-regulated kinase 1A (DYRK1A) gene has been extensively studied for its role in the pathophysiology of intellectual disability (ID) in Down syndrome. The rise of next generation sequencing (NGS) and array-CGH