Catheline Vilain

Catheline Vilain

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Catheline Vilain

Catheline Vilain

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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
September 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.nature.com/articles/s41436-018-0330-z
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http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
June 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
April 2019

BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.

Am J Med Genet A 2018 01 27;176(1):201-208. Epub 2017 Sep 27.

Department of Pediatric Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.38479DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765401PMC
January 2018

First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII.

Case Rep Pediatr 2017 10;2017:9523427. Epub 2017 Jul 10.

Unit of Fetal Pathology, CHU Brugmann-HUDERF, ULB, Brussels, Belgium.

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http://dx.doi.org/10.1155/2017/9523427DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5523543PMC
July 2017

A familial heterozygous null mutation of MET in autism spectrum disorder.

Autism Res 2014 Oct 6;7(5):617-22. Epub 2014 Jun 6.

ULB Center of Human Genetics, Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium; Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université Libre de Bruxelles (ULB), Route de Lennik 808, 1070, Brussels, Belgium.

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http://dx.doi.org/10.1002/aur.1396DOI Listing
October 2014

Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke.

Hum Mol Genet 2014 Jan 2;23(2):283-92. Epub 2013 Sep 2.

Institute of Cardiovascular and Medical Sciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK.

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http://dx.doi.org/10.1093/hmg/ddt418DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869351PMC
January 2014

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Lancet Neurol 2013 Dec 30;12(12):1159-69. Epub 2013 Oct 30.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1016/S1474-4422(13)70258-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349523PMC
December 2013

Iodotyrosine deiodinase defect identified via genome-wide approach.

J Clin Endocrinol Metab 2012 Jul 24;97(7):E1276-83. Epub 2012 Apr 24.

Department of Endocrinology, Hôpital Erasme, Université Libre de Bruxelles, 1070 Brussels, Belgium.

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http://dx.doi.org/10.1210/jc.2011-3314DOI Listing
July 2012

"Benign" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency.

Epileptic Disord 2011 Sep;13(3):300-3

Department of Pediatric Neurology, ULB-Erasme Hospital, Brussels, Belgium.

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http://www.john-libbey-eurotext.fr/medline.md?doi=10.1684/ep
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http://dx.doi.org/10.1684/epd.2011.0452DOI Listing
September 2011

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review.

Am J Med Genet A 2009 Jul;149A(7):1476-81

Service de Génétique Médicale, ULB, Hôpital Erasme, Brussels, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.32678DOI Listing
July 2009

Nephrogenic syndrome of inappropriate antidiuresis in adults: high phenotypic variability in men and women from a large pedigree.

J Am Soc Nephrol 2007 Feb 17;18(2):606-12. Epub 2007 Jan 17.

General Internal Medicine, University Hospital Erasme, Route de Lennik, 808, B-1070 Brussels, Belgium.

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http://www.jasn.org/cgi/doi/10.1681/ASN.2006090987
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http://dx.doi.org/10.1681/ASN.2006090987DOI Listing
February 2007

Small amplified RNA-SAGE.

Methods Mol Biol 2004 ;258:135-52

Institute of Interdisciplinary Research (IRIBHM), Univeristé Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1385/1-59259-751-3:135DOI Listing
May 2004

Small amplified RNA-SAGE: an alternative approach to study transcriptome from limiting amount of mRNA.

Nucleic Acids Res 2003 Mar;31(6):e24

Institute of Interdisciplinary Research (IRIBHM), Université Libre de Bruxelles, 808 route de Lennik, B-1070 Bruxelles, Belgium.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC152878PMC
http://dx.doi.org/10.1093/nar/gng024DOI Listing
March 2003