Zobrazeno 1 - 10
of 26
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:
Abdulrahman Almesned, Dorien Schepers, Mehran Beiraghi Toosi, Zuhair N. Al-Hassnan, Jill A. Rosenfeld, Erin M. Miller, Hassan Mottaghi Moghaddam Shahri, Maaike Alaerts, Melanie Perik, Desiderio Rodrigues, Aline Verstraeten, Reza Maroofian, Silke Peeters, Cédric H. G. Neutel, Ilse Luyckx, Nicole Revencu, Jenny C. Taylor, Jarl Bastianen, Isabel Pintelon, Henry Houlden, Matteo P. Ferla, Erik Fransen, Kayal Vijayakumar, Lut Van Laer, Anthony R. Dallosso, Mandy Vermont, Isabelle Maystadt, Lotte Van Den Heuvel, Thierry Sluysmans, David Murphy, K. Nicole Weaver, Paria Najarzadeh Torbati, Jotte Rodrigues Bento, Amber Begtrup, Maggie Williams, Ilse Van Gucht, Maaike Bastiaansen, Ashish Chikermane, Gangadhara Bharmappanavara, Alistair T. Pagnamenta, Bart Loeys, Joe Davis Velchev, Julie Evans, Josephina A.N. Meester, Narges Hashemi, Julie Vogt, Pieter-Jan Guns
Publikováno v:
The American Journal of Human Genetics
American Journal of Human Genetics, 108, 1115-1125
American Journal of Human Genetics, 108, 6, pp. 1115-1125
Am J Hum Genet
The American journal of human genetics
American Journal of Human Genetics, 108, 1115-1125
American Journal of Human Genetics, 108, 6, pp. 1115-1125
Am J Hum Genet
The American journal of human genetics
Importin 8, encoded by IPO8, is a ubiquitously expressed member of the importin-beta protein family that translocates cargo molecules such as proteins, RNAs, and ribonucleoprotein complexes into the nucleus in a RanGTP-dependent manner. Current knowl
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:
Claudia A. L. Ruivenkamp, Isabelle Maystadt, Scott E. Hickey, Bert B.A. de Vries, Marielle Alders, Stéphanie Moortgat, Bregje W.M. van Bon, Jill A. Rosenfeld, Kareesma Parbhoo, Catherine Vincent-Delorme, Johan T. den Dunnen, Thomas Smol, Debra S. Regier, Pleuntje J. van der Sluijs, Gijs W. E. Santen, Alexander J. M. Dingemans, Betsy Schmalz, Erica H. Gerkes, Bekim Sadikovic, Kyra E. Stuurman, Dan Doherty, Jennifer C. Dempsey, Ilana M. Milller
Publikováno v:
Genes
Volume 12
Issue 8
Paediatrics Publications
Genes, 12
Genes, 12, 8
Genes, 12(8):1275. Multidisciplinary Digital Publishing Institute (MDPI)
Genes, 12(8)
GENES
Genes, Vol 12, Iss 1275, p 1275 (2021)
Genes, 12(8):1275. MDPI AG
Volume 12
Issue 8
Paediatrics Publications
Genes, 12
Genes, 12, 8
Genes, 12(8):1275. Multidisciplinary Digital Publishing Institute (MDPI)
Genes, 12(8)
GENES
Genes, Vol 12, Iss 1275, p 1275 (2021)
Genes, 12(8):1275. MDPI AG
ARID1B is one of the most frequently mutated genes in intellectual disability (~1%). Most variants are readily classified, since they are de novo and are predicted to lead to loss of function, and therefore classified as pathogenic according to the A
Autor:
Valérie Leclercq, Isabelle Maystadt, Catherine Wanty, Olivier Robaux, Damien Lederer, Valérie Benoit, Mélanie Delaunoy, Marcela Ruiz, Claire de Halleux
Publikováno v:
Clinical Case Reports
Key Clinical Message Germline loss‐of‐function GNAS mutations are associated with multiple phenotypes, depending on the parental origin of the mutant allele. Here, we describe an infantile lethal form of atypical pseudohypoparathyroidism type 1a
Autor:
Christiane Zweier, Valérie Benoit, Alejandro Leal, Marie-Cécile Nassogne, Lucy Raymond, Marie Deprez, Mateja Smogavec, Alison Cleall, Damien Lederer, Elizabeth E. Palmer, Jozef Gecz, Deborah J. Shears, Marie Shaw, Charlotte Noakes, Knut Brockmann, Isabelle Maystadt, Juliane Hoyer, André Reis
Publikováno v:
Journal of Medical Genetics. 53:820-827
Background Heterozygous copy number variants (CNVs) or sequence variants in the contactin-associated protein 2 gene CNTNAP2 have been discussed as risk factors for a wide spectrum of neurodevelopmental and neuropsychiatric disorders. Bi-allelic aberr
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:
David Francis, Yves Sznajer, Lieve Vanwalleghem, Jennifer Kussmann, David A. Bateman, Gael E. Phillips, Scott A. Anderson, Elizabeth K. Fiorino, Przemyslaw Szafranski, Kamilla Schlade-Bartusiak, Neil J. Sebire, Pablo Lapunzina, Maya Chopra, Urvashi Surti, Isabelle Maystadt, Oliver Quarrell, Partha Sen, Jill Slamon, Avinash V. Dharmadhikari, Philippe Moerman, Liesbeth Spruijt, Dick Tibboel, Susan Arbuckle, Glenda Hendson, Jennifer Schuette, Nicole de Leeuw, Melissa Lees, Namasivayam Ambalavanan, Annelies de Klein, Svetlana A. Yatsenko, Joel Reiter, Joseph T. Shieh, Sandra Janssens, Gregory Peters, Jessica Sebastian, David R. Kelly, Eitan Kerem, Janet Lioy, Martina Owens, Gary Tsz Kin Mok, Carlos A. Bacino, Amy S. Lay, Shalini N. Jhangiani, Suneeta Madan-Khetarpal, Björn Menten, Elizabeth Roeder, Kadir C. Akdemir, Denise A. Hayes, Laurie A. Steiner, Taryn C. Rosenthal, Richard Sayers, Fernando Santos-Simarro, Ashley Wilson, Joyce E. Fox, Yoyo W. Y. Chu, Richard Fisher, Rebecca O. Littlejohn, Daynna J. Wolff, Wai Lap Wong, Timothy Thiruchelvam, Kristin Scheible, Zoe Mead, Eileen McKay, M. Anwar Iqbal, Erwin Brosens, Melinda H. Markham, Julián Nevado, Anne Loccufier, Rosanna G. Abellar, Tomasz Gambin, Charles Shaw-Smith, Alison Yeung, Pawel Stankiewicz, Nihal Godiwala, Elfride De Baere, Ilse Feenstra, Diane J. Payton, Girvan Malcolm, María Palomares, Morris Edelman, Claire Langston, Thomas S. DeNapoli, Margaret L. McKinnon, Carol L. Wagner, Brian H.Y. Chung, James R. Lupski, Dawn English, Alison Male, Edwina J. Popek, Frances Elmslie, Jasneek Chawla, Sara Jane Hamilton, Jason Pinner
Publikováno v:
Human Genetics, 135, 5, pp. 569-86
Human Genetics, 135(5), 569-586. Springer-Verlag
Human Genetics, 135, 569-86
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Human Genetics, 135(5), 569-586. Springer-Verlag
Human Genetics, 135, 569-86
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Contains fulltext : 168023.pdf (Publisher’s version ) (Closed access) Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy