Publications by authors named "Benedicte Gerard"

47Publications

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

Eur J Hum Genet 2020 Jun 31;28(6):770-782. Epub 2020 Jan 31.

Centre de Génétique et Centre de Référence Maladies Rares (Anomalies du Développement de l'Interrégion Est), Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.

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http://dx.doi.org/10.1038/s41431-020-0571-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253452PMC
June 2020

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2020 03 14;22(3):538-546. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060121PMC
March 2020

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Am J Hum Genet 2017 Sep 17;101(3):428-440. Epub 2017 Aug 17.

Laboratoire de Diagnostic Génétique, Hôpitaux Universitaire de Strasbourg, 67000 Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67400 Illkirch, France; Centre National de la Recherche Scientifique, UMR7104, 67400 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, 67400 Illkirch, France; Université de Strasbourg, 67400 Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297173028
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http://dx.doi.org/10.1016/j.ajhg.2017.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590842PMC
September 2017

Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.

Am J Med Genet A 2016 06 7;170(6):1626-9. Epub 2016 Apr 7.

Service of Medical Genetics, Lausanne University Hospital (CHUV), Lausanne, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.37645DOI Listing
June 2016

3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.

Mol Cytogenet 2014 30;7(1):59. Epub 2014 Sep 30.

Génomique, Epigénétique et Physiopathologie de la Reproduction, U1016 INSERM-UMR 8104 CNRS (Institut Cochin), Université Paris Descartes, Faculté de Médecine, Paris, France ; Laboratoire de Cytogénétique- APHP, Hôpitaux Universitaires Paris Centre, Paris, France.

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http://dx.doi.org/10.1186/s13039-014-0059-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4197286PMC
October 2014

Microvillous atrophy: atypical presentations.

J Pediatr Gastroenterol Nutr 2014 Dec;59(6):779-85

*Université Paris-Diderot-Sorbonne Paris Cité, UMR 1149 †Assistance Publique-Hôpitaux de Paris, Hôpital Robert Debré ‡INSERM, UMR1149, Paris §Department of Electron Microscopy, Université François Rabelais, Tours ||Assistance Publique-Hôpitaux de Paris, Hôpital Necker Enfants-Malades ¶Université Paris Descartes-Sorbonne Paris Cité #Université Paris-Diderot, UMR 698, CHU X. Bichat, Paris, France.

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http://pdfs.journals.lww.com/jpgn/2014/12000/Microvillous_At
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MPG.0000000000000526DOI Listing
December 2014

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.

Eur J Hum Genet 2014 Jun 30;22(6):776-83. Epub 2013 Oct 30.

1] IGBMC, CNRS UMR 7104/INSERM U964/University of Strasbourg, Illkirch Cedex, France [2] Chaire de Génétique Humaine, Collège de France, Paris, France [3] Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, France.

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http://dx.doi.org/10.1038/ejhg.2013.243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023218PMC
June 2014

Parental origin of the X-chromosome does not influence growth hormone treatment effect in Turner syndrome.

J Clin Endocrinol Metab 2012 Jul 16;97(7):E1241-8. Epub 2012 May 16.

Univ Paris Diderot, Sorbonne Paris Cité, F-75019, Paris, France.

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http://dx.doi.org/10.1210/jc.2011-3488DOI Listing
July 2012

Sirenomelia and caudal malformations in two families.

Am J Med Genet A 2012 Jul 20;158A(7):1801-7. Epub 2012 Apr 20.

Clinical Genetics, CHU Caen, Caen, France.

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http://dx.doi.org/10.1002/ajmg.a.35408DOI Listing
July 2012

A familial syndromal form of omphalocele.

Eur J Med Genet 2011 May-Jun;54(3):337-40. Epub 2011 Feb 17.

Clinical Genetics Unit, University Hospital, Pointe-à-Pitre University Hospital, Guadalupe Island, France.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212110001
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http://dx.doi.org/10.1016/j.ejmg.2011.02.001DOI Listing
September 2011

Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes.

J Rheumatol 2010 Feb 23;37(2):401-9. Epub 2009 Dec 23.

Unité d'Immunologie Auto-immunité et Hypersensibilités, AP-HP, Hôpital Bichat-Claude Bernard, France.

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http://dx.doi.org/10.3899/jrheum.090456DOI Listing
February 2010

Amniotic fluid digestive enzyme analysis is useful for identifying CFTR gene mutations of unclear significance.

Clin Chem 2009 Dec 15;55(12):2214-7. Epub 2009 Oct 15.

Biochimie-Hormonologie, Hôpital Robert Debré, AP-HP, Paris, France.

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http://dx.doi.org/10.1373/clinchem.2009.133298DOI Listing
December 2009

NHERF1 mutations and responsiveness of renal parathyroid hormone.

N Engl J Med 2008 Sep;359(11):1128-35

INSERM Unité 845, Université Paris Descartes, Faculté de Médecine, Paris, France.

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http://dx.doi.org/10.1056/NEJMoa0802836DOI Listing
September 2008

Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations.

Hum Mutat 2008 Sep;29(9):E132-49

AP-HP, Hôpital Bichat-Claude Bernard, Service de Biochimie Hormonale et Génétique, 46 rue Henri Huchard, 75018 Paris, France.

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http://dx.doi.org/10.1002/humu.20820DOI Listing
September 2008

Chorioretinal lesions as the unique feature of complete chronic granulomatous disease in an 8-year-old girl.

Eur J Pediatr 2007 Oct 4;166(10):1069-70. Epub 2007 Jan 4.

Department of Pediatrics, Saint-Vincent-de-Paul Hospital, AP-HP, Université Paris-Descartes, 74-82 Avenue Denfert-Rochereau, 75014, Paris, France.

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http://dx.doi.org/10.1007/s00431-006-0345-3DOI Listing
October 2007

Severe X-linked chronic granulomatous disease in two unrelated females.

Eur J Pediatr 2007 Feb 3;166(2):153-9. Epub 2006 Nov 3.

Service d'Immunologie Biologique, Hôpital Bichat-Claude Bernard, AP-HP, 46 rue Henri Huchard, 75018 Paris, France.

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http://dx.doi.org/10.1007/s00431-006-0211-3DOI Listing
February 2007

Association between endothelin receptor B nonsynonymous variants and melanoma risk.

J Natl Cancer Inst 2005 Sep;97(17):1297-301

Laboratoire de Biochimie Hormonale et Génétique, Hôpital Bichat-Claude Bernard, AP-HP, Faculté de Médecine, Paris VII, Paris, France.

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http://dx.doi.org/10.1093/jnci/dji253DOI Listing
September 2005

Human neutrophils produce interferon gamma upon stimulation by interleukin-12.

Lab Invest 2004 Oct;84(10):1363-71

Laboratoire d'Immunologie et Unité INSERM 479, Hôpital Bichat, Paris, France.

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http://dx.doi.org/10.1038/labinvest.3700148DOI Listing
October 2004

Defect of hepatocyte growth factor secretion by fibroblasts in idiopathic pulmonary fibrosis.

Am J Respir Crit Care Med 2003 Nov 28;168(10):1156-61. Epub 2003 Aug 28.

INSERM unit 408, Faculté Xavier Bichat, Hôpital Bichat, Assistance Publique-Hôpitaux de Paris, 16 rue Henri Huchard, 75877 Paris Cedex 18, France.

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http://dx.doi.org/10.1164/rccm.200212-1514OCDOI Listing
November 2003

Stress-induced mutagenesis in bacteria.

Science 2003 May;300(5624):1404-9

INSERM U571, Faculté de Médecine Necker-Enfants Malades, Université ParisV, 156 rue Vaugirard, 75730 ParisCedex 15, France.

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http://dx.doi.org/10.1126/science.1082240DOI Listing
May 2003