Esch, Hilde Van: search on Z-Library

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1

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

Guy Froyen, Mark Corbett, Joke Vandewalle, Irma Jarvela, Owen Lawrence, Cliff Meldrum, Marijke Bauters, Karen Govaerts, Lucianne Vandeleur, Hilde Van Esch, Jamel Chelly, Damien Sanlaville, Hans van Bo

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.34 MB

english, 2008

2

X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

Philips, Anju K, Sirén, Auli, Avela, Kristiina, Somer, Mirja, Peippo, Maarit, Ahvenainen, Minna, Doagu, Fatma, Arvio, Maria, Kääriäinen, Helena, Van Esch, Hilde, Froyen, Guy, Haas, Stefan A, Hu, Hao,

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 1.03 MB

english, 2014

3

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Schlögel, Matthieu J, Mendola, Antonella, Fastré, Elodie, Vasudevan, Pradeep, Devriendt, Koen, de Ravel, Thomy JL, Van Esch, Hilde, Casteels, Ingele, Arroyo Carrera, Ignacio, Cristofoli, Francesca, Fi

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.61 MB

english, 2015

4

Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing

Brison, Nathalie, Neofytou, Maria, Dehaspe, Luc, Bayindir, Baran, Van Den Bogaert, Kris, Dardour, Leila, Peeters, Hilde, Van Esch, Hilde, Van Buggenhout, Griet, Vogels, Annick, de Ravel, Thomy, Legius

Journal:

Prenatal Diagnosis

Year:

2018

Language:

english

File:

PDF, 1.03 MB

english, 2018

5

ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder

Cosemans, Nele, Vandenhove, Laura, Maljaars, Jarymke, Van Esch, Hilde, Devriendt, Koenraad, Baldwin, Amanda, Fryns, Jean-Pierre, Noens, Ilse, Peeters, Hilde

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.93 MB

english, 2018

6

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

Zablotskaya, Alena, Van Esch, Hilde, Verstrepen, Kevin J., Froyen, Guy, Vermeesch, Joris R.

Journal:

BMC Medical Genomics

Year:

2018

Language:

english

File:

PDF, 2.53 MB

english, 2018

7

Unusual Two-Dimensional Multicomponent Self-Assembly Probed by Scanning Tunneling Microscopy

Steven De Feyter, Mattias Larsson, André Gesquière, Hilde Verheyen, Frank Louwet, Bert Groenendaal, Jan van Esch, Ben L. Feringa, Frans De Schryver

Journal:

Year:

2002

Language:

english

File:

PDF, 193 KB

english, 2002

8

Recurrent involvement of chromosomal region 6q21 in heterotaxy

Hilde Peeters, Ph. Debeer, P. Groenen, H. Van Esch, G. Vanderlinden, B. Eyskens, L. Mertens, M. Gewillig, W. Van de Ven, J.P. Fryns, K. Devriendt

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 176 KB

english, 2001

9

Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes

Hilde Van Esch, Anna Jansen, Marijke Bauters, Guy Froyen, Jean-Pierre Fryns

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 121 KB

english, 2007

10

Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications

Oliver Bartsch, Konstanze Gebauer, Stanislav Lechno, Hilde van Esch, Guy Froyen, Michael Bonin, Jörg Seidel, Barbara Thamm-Mücke, Denise Horn, Eva Klopocki, Christoph Hertzberg, Ulrich Zechner, Thomas

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 214 KB

english, 2010

11

Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome

Liesbeth Backx, Jean-Pierre Fryns, Carlo Marcelis, Koen Devriendt, Joris Vermeesch, Hilde Van Esch

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 189 KB

english, 2010

12

Should we screen for FMR1 premutations in female subjects presenting with ataxia?

Hilde Van Esch, Gert Matthijs, Jean-Pierre Fryns

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 174 KB

english, 2005

13

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes

Guy Froyen, Hilde Van Esch, Marijke Bauters, Karen Hollanders, Suzanna G.M. Frints, Joris R. Vermeesch, Koen Devriendt, Jean-Pierre Fryns, Peter Marynen

Journal:

Year:

2007

Language:

english

File:

PDF, 480 KB

english, 2007

14

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

Frauke Coppieters, Ingele Casteels, Françoise Meire, Sarah De Jaegere, Sally Hooghe, Nicole van Regemorter, Hilde Van Esch, Aušra Matulevičienė, Luis Nunes, Valérie Meersschaut, Sophie Walraedt, Lieve

Journal:

Year:

2010

Language:

english

File:

PDF, 430 KB

english, 2010

15

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

Jacek Majewski, Jeremy A. Schwartzentruber, Aurore Caqueret, Lysanne Patry, Janet Marcadier, Jean-Pierre Fryns, Kym M. Boycott, Louis-Georges Ste-Marie, Fergus E. McKiernan, Ivo Marik, Hilde Van Esch,

Journal:

Year:

2011

Language:

english

File:

PDF, 206 KB

english, 2011

16

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium

Arjan P.M. de Brouwer, Helger G. Yntema, Tjitske Kleefstra, Dorien Lugtenberg, Astrid R. Oudakker, Bert B.A. de Vries, Hans van Bokhoven, Hilde Van Esch, Suzanne G.M. Frints, Guy Froyen, Jean-Pierre F

Journal:

Year:

2007

Language:

english

File:

PDF, 196 KB

english, 2007

17

Partial DiGeorge syndrome in two patients with a 10p rearrangement

Hilde Van Esch, Peter Groenen, Sarah Daw, Ann Poffyn, Maureen Holvoet, Peter Scambler, Jean-Pierre Fryns, Wim Van de Ven, Koen Devriendt

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 364 KB

english, 1999

18

Mutation screening ofASMT, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability

Cecile Pagan, Hany Goubran Botros, Karine Poirier, Anne Dumaine, Stéphane Jamain, Sarah Moreno, Arjan de Brouwer, Hilde Van Esch, Richard Delorme, Jean-Marie Launay, Andreas Tzschach, Vera Kalscheuer,

Journal:

BMC Medical Genetics

Year:

2011

Language:

english

File:

PDF, 227 KB

english, 2011

19

Direct fluorescent labelling of clones by DOP PCR

Liesbeth Backx, Reinhilde Thoelen, Hilde Van Esch, Joris R Vermeesch

Journal:

Molecular Cytogenetics

Year:

2008

Language:

english

File:

PDF, 341 KB

english, 2008

20

First trimester prenatal diagnosis of 13q-syndrome presenting with increased nuchal translucency, Dandy-Walker malformation and small parietal encephalocoele

An Hindryckx, Luc De Catte, Hilde Van Esch, Jean-Pierre Fryns, Philippe Moerman, Roland Devlieger

Journal:

Prenatal Diagnosis

Year:

2008

Language:

english

File:

PDF, 81 KB

english, 2008

21

Loss ofSLC38A5andFTSJ1at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region

Guy Froyen, Marijke Bauters, Jackie Boyle, Hilde Van Esch, Karen Govaerts, Hans van Bokhoven, Hans-Hilger Ropers, Claude Moraine, Jamel Chelly, Jean-Pierre Fryns, Peter Marynen, Jozef Gecz, Gillian Tu

Journal:

Year:

2007

Language:

english

File:

PDF, 652 KB

english, 2007

22

The location ofDCXmutations predicts malformation severity in X-linked lissencephaly

Pierre-Louis Leger, Isabelle Souville, Nathalie Boddaert, Caroline Elie, Jean Marc Pinard, Perrine Plouin, Marie Laure Moutard, Vincent des Portes, Hilde Van Esch, Sylvie Joriot, Jean Louis Renard, Ja

Journal:

Year:

2008

Language:

english

File:

PDF, 257 KB

english, 2008

23

A novel mutation in theDLG3gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation

Ginevra Zanni, Hilde van Esch, Anissa Bensalem, Yoann Saillour, Karine Poirier, Laetitia Castelnau, Hans Hilger Ropers, Arjan P. M. de Brouwer, Fréderic Laumonnier, Jean-Pierre Fryns, Jamel Chelly

Journal:

Year:

2010

Language:

english

File:

PDF, 218 KB

english, 2010

24

Revisiting the phenotype associated withFOXG1mutations: two novel cases of congenital Rett variant

Nadia Bahi-Buisson, Juliette Nectoux, Benoit Girard, Hilde Van Esch, Thomy De Ravel, Nathalie Boddaert, Perrine Plouin, Marlene Rio, Yann Fichou, Jamel Chelly, Thierry Bienvenu

Journal:

Year:

2010

Language:

english

File:

PDF, 485 KB

english, 2010

25

GATA3 haplo-insufficiency causes human HDR syndrome

Beetz, Rolf, Bilous, Rudolf W., Holdaway, Ian, Van Esch, Hilde, Groenen, Peter, Nesbit, M. Andrew, Schuffenhauer, Simone, Lichtner, Peter, Vanderlinden, Gert, Harding, Brian

Journal:

Year:

2000

Language:

english

File:

PDF, 354 KB

english, 2000

26

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

Backx, Liesbeth, Ceulemans, Berten, Vermeesch, Joris Robert, Devriendt, Koen, Van Esch, Hilde

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 241 KB

english, 2008

27

MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression

Frints, Suzanna Gerarda Maria, Lenzner, Steffen, Bauters, Mareike, Jensen, Lars Riff, Van Esch, Hilde, des Portes, Vincent, Moog, Ute, Macville, Merryn Victor Erik, van Roozendaal, Kees, Schrander-Stu

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 244 KB

english, 2008

28

Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia

Van Esch, Hilde, Dom, Rene, Bex, Dorien, Salden, Ivo, Caeckebeke, Jo, Wibail, Alain, Borghgraef, Martine, Legius, Eric, Fryns, Jean-Pierre, Matthijs, Gert

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 59 KB

english, 2004

29

Partial duplications of the ATRX gene cause the ATR-X syndrome

Thienpont, Bernard, de Ravel, Thomy, Van Esch, Hilde, Van Schoubroeck, Dominique, Moerman, Philippe, Vermeesch, Joris Robert, Fryns, Jean-Pierre, Froyen, Guy, Lacoste, Caroline, Badens, Catherine

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 140 KB

english, 2007

30

Recurrent mutations in the CDKL5 gene: Genotype–phenotype relationships

Nadia Bahi-Buisson, Nathalie Villeneuve, Emilie Caietta, Aurélia Jacquette, Helene Maurey, Gert Matthijs, Hilde Van Esch, Andrée Delahaye, Anne Moncla, Mathieu Milh, Flore Zufferey, Bertrand Diebold,

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 169 KB

english, 2012

31

Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination

Joke Vandewalle, Hilde Van Esch, Karen Govaerts, Jelle Verbeeck, Christiane Zweier, Irene Madrigal, Montserrat Mila, Elly Pijkels, Isabel Fernandez, Jürgen Kohlhase, Christiane Spaich, Anita Rauch, Je

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.73 MB

english, 2009

32

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family

Hilde Van Esch, Ginevra Zanni, Maureen Holvoet, Martine Borghgraef, Jamel Chelly, Jean-Pierre Fryns, Koenraad Devriendt

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 262 KB

english, 2005

33

O9: Array CGH using microdissected chromosomes to map chromosomal breakpoints

Liesbeth F.P. Backx, Hilde Van Esch, Cindy Melotte, Nadezda Kosyakova, Jean-Pierre Frijns, Thomas Liehr, Joris R. Vermeesch

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 46 KB

english, 2005

34

X chromosome array-CGH for the identification of novel X-linked mental retardation genes

Marijke Bauters, Hilde Van Esch, Peter Marynen, Guy Froyen

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 419 KB

english, 2005

35

O5: Characterization of subtle copy number changes on the X chromosome identified in 7% of patients with X-linked mental retardation by high-resolution array-CGH

Marijke Bauters, Hilde Van Esch, Karen Hollanders, Koen Devriendt, Jean-Pierre Fryns, Peter Marynen, Guy Froyen

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 39 KB

english, 2005

36

The Fragile X premutation: new insights and clinical consequences

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 169 KB

english, 2006

37

Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH

Ludmila Kousoulidou, Sven Parkel, Olga Zilina, Priit Palta, Helen Puusepp, Maido Remm, Gillian Turner, Jackie Boyle, Hans van Bokhoven, Arjan de Brouwer, Hilde Van Esch, Guy Froyen, Hans-Hilger Ropers

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 379 KB

english, 2007

38

Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutation

Hilde Van Esch, Luc Buekenhout, Valerie Race, Gert Matthijs

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 208 KB

english, 2009

39

Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10)

Irina Balikova, Joris Robert Vermeesch, Jean-Pierre Fryns, Hilde Van Esch

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 126 KB

english, 2009

40

PPP2R2C, a gene disrupted in autosomal dominant intellectual disability

Liesbeth Backx, Joris Vermeesch, Elly Pijkels, Thomy de Ravel, Eve Seuntjens, Hilde Van Esch

Journal:

European Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 544 KB

english, 2010

41

Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome

Hilde Van Esch, Liesbeth Backx, Elly Pijkels, Jean-Pierre Fryns

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 160 KB

english, 2009

42

Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: “Circumferential skin creases Kunze type”

Leen Wouters, Celia Maria Rodriguez Rodriguez, Elena Porta Dapena, Vincent Vander Poorten, Koen Devriendt, Hilde Van Esch

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 615 KB

english, 2011

43

BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome

Jeroen Breckpot, Léon-Charles Tranchevent, Bernard Thienpont, Marijke Bauters, Els Troost, Marc Gewillig, Joris R. Vermeesch, Yves Moreau, Koenraad Devriendt, Hilde Van Esch

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 306 KB

english, 2012

44

Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons

Karine Poirier, Hilde Van Esch, Gaëlle Friocourt, Yoann Saillour, Nadia Bahi, Stéphanie Backer, Evelyne Souil, Laetitia Castelnau-Ptakhine, Cherif Beldjord, Fiona Francis, Thierry Bienvenu, Jamel Chel

Journal:

Molecular Brain Research

Year:

2004

Language:

english

File:

PDF, 1.01 MB

english, 2004

45

Haploinsufficiency of the HOXA Gene Cluster, in a Patient with Hand-Foot-Genital Syndrome, Velopharyngeal Insufficiency, and Persistent Patent Ductus Botalli

Koenraad Devriendt, Jaak Jaeken, Gert Matthijs, Hilde Van Esch, Philippe Debeer, Marc Gewillig, Jean-Pierre Fryns

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 89 KB

english, 1999

46

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 Kleefstr

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 2.11 MB

english, 2005

47

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 Gécz, Hans-Hilger Ropers, Vera M. Kalscheu

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 1.42 MB

english, 2004

48

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, Thierry Bienvenu, Lars Riff Jensen, Jozef Gécz, Claude Moraine, Peter Marynen, Jea

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 672 KB

english, 2005

49

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. S

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 400 KB

english, 2006

50

Two novel deletions in hypotonia–cystinuria syndrome

Luc Régal, Halil Ibrahim Aydin, Anne-Marie Dieltjens, Hilde Van Esch, Inge Francois, Ilyas Okur, Cengiz Zeybek, Sandra Meulemans, Christine Van Mol, Lore Van Bruwaene, Siao-Hann Then, Jaak Jaeken, Joh

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 516 KB

english, 2012

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