Hilde Van Esch

Hilde Van Esch

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Hilde Van Esch

Publications by authors named "Hilde Van Esch"

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

BMC Med Genomics 2018 Dec 19;11(1):123. Epub 2018 Dec 19.

Department of Human Genetics and Center for Human Genetics, Laboratory for Cytogenetics and Genome Research, University Hospitals Leuven, KU Leuven, O&N I Herestraat 49 - box 606, 3000, Leuven, Belgium.

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http://dx.doi.org/10.1186/s12920-018-0446-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6299999PMC
December 2018

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

Eur J Med Genet 2018 Jul 7;61(7):376-383. Epub 2018 Feb 7.

Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium; Leuven Autism Research (LAuRes), Leuven, Belgium. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173063
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http://dx.doi.org/10.1016/j.ejmg.2018.02.002DOI Listing
July 2018

Novel CASK mutations in cases with syndromic microcephaly.

Hum Mutat 2018 07 11;39(7):993-1001. Epub 2018 May 11.

Laboratory for Cytogenetics and Genome Research, Center for Human Genetics, KU Leuven, Leuven, Belgium.

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http://doi.wiley.com/10.1002/humu.23536
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http://dx.doi.org/10.1002/humu.23536DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5995665PMC
July 2018

Further delineation of the duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Authors:
Marguerite Miguet Laurence Faivre Jeanne Amiel Mathilde Nizon Renaud Touraine Fabienne Prieur Laurent Pasquier Mathilde Lefebvre Julien Thevenon Christèle Dubourg Sophie Julia Catherine Sarret Ganaëlle Remerand Christine Francannet Fanny Laffargue Odile Boespflug-Tanguy Albert David Bertrand Isidor Jacqueline Vigneron Bruno Leheup Laetitia Lambert Christophe Philippe Mylène Béri-Dexheimer Jean-Marie Cuisset Joris Andrieux Ghislaine Plessis Annick Toutain Laurent Guibaud Valérie Cormier-Daire Marlene Rio Jean-Paul Bonnefont Bernard Echenne Hubert Journel Lydie Burglen Sandrine Chantot-Bastaraud Thierry Bienvenu Clarisse Baumann Laurence Perrin Séverine Drunat Pierre-Simon Jouk Klaus Dieterich Françoise Devillard Didier Lacombe Nicole Philip Sabine Sigaudy Anne Moncla Chantal Missirian Catherine Badens Nathalie Perreton Christel Thauvin-Robinet Réseau AChro-Puce Jean-Michel Pedespan Caroline Rooryck Cyril Goizet Catherine Vincent-Delorme Bénédicte Duban-Bedu Nadia Bahi-Buisson Alexandra Afenjar Kim Maincent Delphine Héron Jean-Luc Alessandri Dominique Martin-Coignard Gaëtan Lesca Massimiliano Rossi Martine Raynaud Patrick Callier Anne-Laure Mosca-Boidron Nathalie Marle Charles Coutton Véronique Satre Cédric Le Caignec Valérie Malan Serge Romana Boris Keren Anne-Claude Tabet Valérie Kremer Sophie Scheidecker Adeline Vigouroux Marilyn Lackmy-Port-Lis Damien Sanlaville Marianne Till Maryline Carneiro Brigitte Gilbert-Dussardier Marjolaine Willems Hilde Van Esch Vincent Des Portes Salima El Chehadeh

J Med Genet 2018 Jun 4;55(6):359-371. Epub 2018 Apr 4.

Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs", Centre de Référence Maladies Rares "Des déficiences intellectuelles de causes rares", Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-104956DOI Listing
June 2018

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Am J Hum Genet 2018 05 12;102(5):744-759. Epub 2018 Apr 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986661PMC
May 2018

Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients.

Am J Med Genet A 2018 01 12;176(1):209-213. Epub 2017 Nov 12.

Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.38499DOI Listing
January 2018

Novel Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening.

Mol Syndromol 2017 Nov 27;8(6):282-293. Epub 2017 Sep 27.

Laboratories for Genetics of Cognition, Center for Human Genetics, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1159/000479666DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701267PMC
November 2017

Optic Nerve Hypoplasia Is a Pervasive Subcortical Pathology of Visual System in Neonates.

Invest Ophthalmol Vis Sci 2017 10;58(12):5485-5496

Developmental and Translational Neurobiology Center, Virginia Tech Carilion Research Institute, Roanoke, Virginia, United States.

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http://dx.doi.org/10.1167/iovs.17-22399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656421PMC
October 2017

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.

Hum Mutat 2017 03 17;38(3):324-331. Epub 2017 Jan 17.

Department of Human Genetics, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/humu.23150DOI Listing
March 2017

Two-Year Refractive Outcomes After Descemet Membrane Endothelial Keratoplasty.

Cornea 2016 Dec;35(12):1548-1555

*Netherlands Institute for Innovative Ocular Surgery, Rotterdam, the Netherlands;†Melles Cornea Clinic Rotterdam, Rotterdam, the Netherlands;‡Hospital Regional Universitario Málaga, Spain; and§Amnitrans EyeBank Rotterdam, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1097/ICO.0000000000001022DOI Listing
December 2016

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Nat Genet 2016 10 29;48(10):1185-92. Epub 2016 Aug 29.

Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045717PMC
http://dx.doi.org/10.1038/ng.3661DOI Listing
October 2016

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy.

Neurology 2016 Jun 4;86(23):2162-70. Epub 2016 May 4.

From the Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences (A.S., C.S., N.V., P.A.M.d.W.), and Laboratory for the Genetics of Cognition (M.I.), University of Leuven; Center for Human Genetics (M.I., H.V.E.) and Child Neurology (L.L., G.M.B.), University Hospitals Leuven; Department of Biological Sciences (Y.L., M.G.), Hunter College of City University, New York; and Graduate Program in Biology/Neuroscience at City University (Y.L.), New York, NY.

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http://dx.doi.org/10.1212/WNL.0000000000002752DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898311PMC
June 2016

A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings.

Hum Genome Var 2015 3;2:15049. Epub 2015 Dec 3.

Center for Human Genetics, University Hospitals Leuven , Leuven, Belgium.

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http://dx.doi.org/10.1038/hgv.2015.49DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785582PMC
April 2016

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Neuron 2015 Nov;88(3):499-513

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08966273150083
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http://dx.doi.org/10.1016/j.neuron.2015.09.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4824012PMC
November 2015

Ethical signposts for clinical geneticists in secondary variant and incidental finding disclosure discussions.

Med Health Care Philos 2015 Aug;18(3):361-70

Centre for Biomedical Ethics and Law, KU Leuven, Kapucijnenvoer 35, 3000, Leuven, Belgium,

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http://link.springer.com/10.1007/s11019-014-9611-8
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http://dx.doi.org/10.1007/s11019-014-9611-8DOI Listing
August 2015

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.

Am J Hum Genet 2015 Aug 9;97(2):302-10. Epub 2015 Jul 9.

School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia; School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide, SA 5005, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.05.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573269PMC
August 2015

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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https://clinicforspecialchildren.org/wp-content/uploads/2015
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.

J Med Genet 2015 Jul 1;52(7):476-83. Epub 2015 Jun 1.

Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany Max Planck Institute for Molecular Genetics, Berlin, Germany Berlin-Brandenburg School for Regenerative Therapies (BSRT), Berlin, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2015-103108DOI Listing
July 2015

Conradi-Hünermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C).

Pediatr Dermatol 2014 Jul-Aug;31(4):493-6. Epub 2014 Jun 11.

Department of Dermatology, University Hospitals Leuven, Leuven, Belgium.

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http://doi.wiley.com/10.1111/pde.12336
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http://dx.doi.org/10.1111/pde.12336DOI Listing
May 2015

Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features.

Eur J Med Genet 2015 May 7;58(5):324-7. Epub 2015 Apr 7.

Human Genome Laboratory, Department of Human Genetics, KU Leuven, Leuven, Belgium. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212150006
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http://dx.doi.org/10.1016/j.ejmg.2015.03.003DOI Listing
May 2015

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.

Eur J Hum Genet 2015 Apr 16;23(4):551-4. Epub 2014 Jul 16.

Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/ejhg.2014.135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666577PMC
April 2015

3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability.

Eur J Med Genet 2015 Apr 3;58(4):244-8. Epub 2015 Feb 3.

Centre of Human Genetics, University Hospitals Leuven, Belgium & Department of Human Genetics, KU Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2015.01.008DOI Listing
April 2015

Focus group discussions on secondary variants and next-generation sequencing technologies.

Eur J Med Genet 2015 Apr 3;58(4):249-57. Epub 2015 Feb 3.

Centre for Biomedical Ethics and Law, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2015.01.007DOI Listing
April 2015

A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function.

EMBO Mol Med 2015 Apr;7(4):423-37

VIB Center for the Biology of Disease, VIB, Leuven, Belgium Center for Human Genetics, University of Leuven School of Medicine and University Hospitals Leuven, Leuven, Belgium Program in Molecular and Developmental Genetics, Doctoral School of Biomedical Sciences, University of Leuven, Leuven, Belgium

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http://dx.doi.org/10.15252/emmm.201404576DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4403044PMC
April 2015

Homozygous missense mutation in STYXL1 associated with moderate intellectual disability, epilepsy and behavioural complexities.

Eur J Med Genet 2015 Apr 24;58(4):205-10. Epub 2015 Feb 24.

Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium; Laboratory for the Genetics of Cognition, KU Leuven, Leuven, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.02.006DOI Listing
April 2015

Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.

Am J Med Genet A 2014 Aug 15;164A(8):1947-52. Epub 2014 Apr 15.

Human Genome Laboratory, Department of Human Genetics, KU Leuven, Leuven, Belgium; Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium.

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http://doi.wiley.com/10.1002/ajmg.a.36580
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http://dx.doi.org/10.1002/ajmg.a.36580DOI Listing
August 2014

Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.

Am J Med Genet A 2014 Jun 25;164A(6):1576-9. Epub 2014 Mar 25.

Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.36486DOI Listing
June 2014

Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.

Hum Mutat 2014 Mar 13;35(3):350-5. Epub 2014 Jan 13.

Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium; Human Genome Laboratory, Department of Human Genetics, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/humu.22498DOI Listing
March 2014

Presenting symptoms in adults with the 22q11 deletion syndrome.

Eur J Med Genet 2014 Mar 24;57(4):157-62. Epub 2014 Feb 24.

Center for Human Genetics, KU Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2014.02.008DOI Listing
March 2014

Duplications of 17q12 can cause familial fever-related epilepsy syndromes.

Neurology 2013 Oct 18;81(16):1434-40. Epub 2013 Sep 18.

From the Neurogenetics Group (K.H., S.W., P.H., P.D.J., A.S.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (K.H., S.W., P.H., P.D.J., A.S.), Institute Born-Bunge, University of Antwerp; Department of Neurology (E.P., W.V.P.), University Hospital Gasthuisberg, Leuven; Center for Human Genetics (H.V.E.), University Hospitals Leuven, KU Leuven; and Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp, Belgium.

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http://dx.doi.org/10.1212/WNL.0b013e3182a84163DOI Listing
October 2013

A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.

Hum Mol Genet 2013 Sep 21;22(18):3789-97. Epub 2013 May 21.

Computational Biophysics and Bioinformatics, Department of Physics, Clemson University, Clemson, SC 29634, USA.

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http://dx.doi.org/10.1093/hmg/ddt229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3749864PMC
September 2013

HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability.

Eur J Med Genet 2013 Jul 27;56(7):379-82. Epub 2013 May 27.

Center for Human Genetics, University Hospitals Leuven, KU Leuven, Herestraat 49, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2013.05.005DOI Listing
July 2013

Prenatal diagnosis of MPPH syndrome.

Prenat Diagn 2013 Mar 24;33(3):292-5. Epub 2013 Jan 24.

Department of Obstetrics and Gynecology, University Hospitals, Leuven, Belgium.

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http://dx.doi.org/10.1002/pd.4039DOI Listing
March 2013

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.

Eur J Hum Genet 2013 Feb 18;21(2):195-9. Epub 2012 Jul 18.

INSERM U781, Département de Génétique et de Radiologie Pédiatrique, Fondation IMAGINE, Université Paris Descartes, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2012.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548256PMC
February 2013

Two novel deletions in hypotonia-cystinuria syndrome.

Mol Genet Metab 2012 Nov 26;107(3):614-6. Epub 2012 Jun 26.

Laboratory for Biochemical Neuroendocrinology, Center for Human Genetics, University of Leuven, KU Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ymgme.2012.06.011DOI Listing
November 2012

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.

Hum Mutat 2011 Oct 9;32(10):1114-7. Epub 2011 Sep 9.

Department of Human Genetics, McGill University and Genome Quebec Innovation Centre, Canada.

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http://dx.doi.org/10.1002/humu.21546DOI Listing
October 2011

Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type".

Eur J Med Genet 2011 May-Jun;54(3):236-40. Epub 2011 Jan 22.

Department of Paediatrics, University Hospitals Leuven, Herestraat 49, B-3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2011.01.003DOI Listing
September 2011

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.

J Med Genet 2011 Feb 10;48(2):98-104. Epub 2010 Nov 10.

Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1136/jmg.2010.079491DOI Listing
February 2011

PPP2R2C, a gene disrupted in autosomal dominant intellectual disability.

Eur J Med Genet 2010 Sep-Oct;53(5):239-43. Epub 2010 Jun 23.

Centre for Human Genetics, University Hospital Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2010.06.006DOI Listing
January 2011

Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14.

J Med Genet 2010 Oct 3;47(10):717-20. Epub 2010 Aug 3.

Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium.

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http://jmg.bmj.com/cgi/doi/10.1136/jmg.2010.077586
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http://dx.doi.org/10.1136/jmg.2010.077586DOI Listing
October 2010

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

Am J Med Genet A 2010 Feb;152A(2):319-26

Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.33202DOI Listing
February 2010

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

Am J Med Genet A 2010 Feb;152A(2):305-12

Institut für Humangenetik, Universitätsmedizin der Johannes Gutenberg-Universität Mainz, Mainz, Germany.

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http://dx.doi.org/10.1002/ajmg.a.33198DOI Listing
February 2010

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

Eur J Med Genet 2009 Jul-Aug;52(4):260-1. Epub 2009 Jan 14.

Center for Human Genetics, University Hospitals Leuven, Herestraat 49, B-3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2009.01.001DOI Listing
November 2009

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

Eur J Med Genet 2009 Mar-Jun;52(2-3):153-6. Epub 2009 Feb 21.

Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, B-3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2009.02.003DOI Listing
September 2009

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Nat Genet 2009 May 19;41(5):535-43. Epub 2009 Apr 19.

Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872007PMC
May 2009

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

Eur J Med Genet 2009 Jan-Feb;52(1):37-40. Epub 2008 Nov 17.

Center for Human Genetics, University Hospital Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2008.11.001DOI Listing
April 2009