H
Hilde Van Esch
Researcher at Katholieke Universiteit Leuven
Publications - 185
Citations - 9901
Hilde Van Esch is an academic researcher from Katholieke Universiteit Leuven. The author has contributed to research in topics: Gene & Haploinsufficiency. The author has an hindex of 49, co-authored 177 publications receiving 8544 citations. Previous affiliations of Hilde Van Esch include University of Paris.
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Journal ArticleDOI
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.
Hilde Van Esch,Marijke Bauters,Jaakko Ignatius,Mieke Jansen,Martine Raynaud,Karen Hollanders,Dorien Lugtenberg,T Bienvenu,Lars Riff Jensen,Jozef Gecz,Jozef Gecz,Claude Moraine,Peter Marynen,Jean-Pierre Fryns,Guido Froyen +14 more
TL;DR: It is demonstrated that, in humans, not only impaired or abolished gene function but also increased MeCP2 dosage causes a distinct phenotype, which justifies quantitative screening of MECP2 in this group of patients.
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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
Patrick S. Tarpey,Raffaella Smith,Erin Pleasance,Annabel Whibley,Sarah Edkins,Claire Hardy,Sarah O’Meara,Calli Latimer,Ed Dicks,Andrew Menzies,Phil Stephens,Matt Blow,Christopher Greenman,Yali Xue,Chris Tyler-Smith,Deborah J. Thompson,Kristian Gray,Jenny Andrews,Syd Barthorpe,Gemma Buck,Jennifer Cole,Rebecca Dunmore,David T. Jones,Mark Maddison,Tatiana Mironenko,Rachel Turner,Kelly Turrell,Jennifer Varian,Sofie West,Sara Widaa,Paul Wray,Jon W. Teague,Adam Butler,Andrew M. Jenkinson,Mingming Jia,David S. Richardson,Rebecca Shepherd,Richard Wooster,M Isabel Tejada,Francisco Martínez,Gemma L. Carvill,Rene Goliath,Arjan P.M. de Brouwer,Hans van Bokhoven,Hilde Van Esch,Jamel Chelly,Martine Raynaud,Hans-Hilger Ropers,Fatima Abidi,Anand Srivastava,James J. Cox,Ying Luo,Uma Mallya,Jenny Moon,Josef Parnau,Shehla Mohammed,John Tolmie,Cheryl Shoubridge,Mark A. Corbett,Alison Gardner,Eric Haan,Sinitdhorn Rujirabanjerd,Marie Shaw,Lucianne Vandeleur,Tod Fullston,Douglas F. Easton,Jackie Boyle,Michael Partington,Anna Hackett,Michael Field,Cindy Skinner,Roger E. Stevenson,Martin Bobrow,Gillian Turner,Charles E. Schwartz,Jozef Gecz,Jozef Gecz,F. Lucy Raymond,P. Andrew Futreal,Michael R. Stratton +79 more
TL;DR: The coding exons of the X chromosome in 208 families with X-linked mental retardation (XLMR) are sequenced, the largest direct screen for constitutional disease-causing mutations thus far reported.
Journal ArticleDOI
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
Lars Riff Jensen,Marion Amende,Ulf Gurok,Bettina Moser,Verena Gimmel,Andreas Tzschach,Andreas R. Janecke,Gholamali Tariverdian,Jamel Chelly,Jean-Pierre Fryns,Hilde Van Esch,Tjitske Kleefstra,Ben C.J. Hamel,Claude Moraine,Jozef Gecz,Gillian Turner,Richard Reinhardt,Vera M. Kalscheuer,Hans-Hilger Ropers,Steffen Lenzner +19 more
TL;DR: The results suggest that JARID1C mutations are a relatively common cause of XLMR and that this gene might play an important role in human brain function.
Journal ArticleDOI
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.
Tjitske Kleefstra,Han G. Brunner,Jeanne Amiel,Astrid R. Oudakker,Willy M. Nillesen,Alex Magee,David Geneviève,Valérie Cormier-Daire,Hilde Van Esch,Jean Pierre Fryns,Ben C.J. Hamel,Erik A. Sistermans,Bert B.A. de Vries,Hans van Bokhoven +13 more
TL;DR: Two de novo mutations--a nonsense mutation and a frameshift mutation--in the EHMT1 gene in patients with a typical 9q- phenotype are identified, establishing that haploinsufficiency of EH MT1 is causative for 9q subtelomeric deletion syndrome.
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Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation
Jiong Tao,Hilde Van Esch,M. Hagedorn-Greiwe,Kirsten Hoffmann,Bettina Moser,Martine Raynaud,Jürgen Sperner,Jean-Pierre Fryns,Eberhard Schwinger,Jozef Gecz,Hans-Hilger Ropers,Vera M. Kalscheuer +11 more
TL;DR: It is reported that de novo missense mutations in CDKL5 are associated with a severe phenotype of early-onset infantile spasms and clinical features that overlap those of other neurodevelopmental disorders, such as Rett syndrome and Angelman syndrome.