Publications by authors named "Sylvie Manouvrier-Hanu"

52Publications

Phenotypic spectrum of SHANK2-related neurodevelopmental disorder.

Eur J Med Genet 2020 Sep 25;63(12):104072. Epub 2020 Sep 25.

CHU Lille, Clinique de Génétique, Guy Fontaine, F-59000, Lille, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104072DOI Listing
September 2020

Confirmation of risk of cancer in blepharocheilodontic syndrome.

Genet Med 2020 Oct 2;22(10):1727-1728. Epub 2020 Jun 2.

Université de Lille, EA7364 RADEME, Lille, France.

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http://dx.doi.org/10.1038/s41436-020-0849-7DOI Listing
October 2020

Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants.

Cell 2020 03 12;180(6):1262-1271.e15. Epub 2020 Mar 12.

Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA; U.S. Department of Energy Joint Genome Institute, Berkeley, CA 94720, USA; Comparative Biochemistry Program, University of California, Berkeley, CA 94720, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2020.02.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7179509PMC
March 2020

In cases of familial primary ovarian insufficiency and disorders of gonadal development, consider NR5A1/SF-1 sequence variants.

Reprod Biomed Online 2020 Jan 10;40(1):151-159. Epub 2019 Oct 10.

Université de Lille, CHU Lille, INSERM U1172, Lille F-59000, France; Université de Lille, CHU Lille, Department of Reproductive Medicine, Lille F-59000, France. Electronic address:

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http://dx.doi.org/10.1016/j.rbmo.2019.10.002DOI Listing
January 2020

Growing up with a rare genetic disease: an interpretative phenomenological analysis of living with Holt-Oram syndrome.

Disabil Rehabil 2019 Dec 1:1-8. Epub 2019 Dec 1.

Center of Clinical Psychology, Psychopathology and Psychosomatic Research, Université Libre de Bruxelles, Bruxelles, Belgique.

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http://dx.doi.org/10.1080/09638288.2019.1697763DOI Listing
December 2019

Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?

Eur J Med Genet 2020 Apr 12;63(4):103812. Epub 2019 Nov 12.

CHU Lille, Institut de Génétique Médicale, F-59000, Lille, France; CHU Lille, Clinique de Génétique - Guy Fontaine, F-59000, Lille, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103812DOI Listing
April 2020

Difficulties adapting to Nail-Patella syndrome: A qualitative study of patients' perspectives.

J Genet Couns 2019 10 16;28(5):1011-1020. Epub 2019 Jul 16.

Center of Clinical Psychology, Psychopathology and Psychosomatic Research, Free University of Brussels, Brussels, Belgium.

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http://dx.doi.org/10.1002/jgc4.1153DOI Listing
October 2019

WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature.

Am J Med Genet A 2019 07 3;179(7):1351-1356. Epub 2019 May 3.

Clinique de Génétique Guy Fontaine, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.

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http://dx.doi.org/10.1002/ajmg.a.61177DOI Listing
July 2019

The Subjective Experience of Patients Diagnosed with Hereditary Hemorrhagic Telangiectasia: a Qualitative Study.

J Genet Couns 2017 Jun 28;26(3):612-619. Epub 2016 Oct 28.

Université de Lille, CNRS, UMR 9193 - SCALab - Sciences Cognitives et Sciences Affectives, F-59000, Lille, France.

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http://dx.doi.org/10.1007/s10897-016-0033-zDOI Listing
June 2017

Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.

Am J Med Genet A 2014 Sep 20;164A(9):2344-50. Epub 2014 May 20.

Hôpital Henri Mondor, AP-HP, Laboratoire de Biochimie et Génétique, Créteil, France; INSERM, U955, Equipe 11, Créteil, France; Université Paris Est, UMR_S955, UPEC, Créteil, France.

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http://dx.doi.org/10.1002/ajmg.a.36612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5225272PMC
September 2014

Pathogenesis of congenital diaphragmatic hernia: additional clues regarding the involvement of the endothelin system.

Am J Med Genet A 2014 Jan 21;164A(1):208-12. Epub 2013 Nov 21.

Université Lille Nord de France, CHRU Lille, France; Service de Gynécologie-Obstétrique, Hôpital Jeanne de Flandre, CHRU Lille, France.

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http://doi.wiley.com/10.1002/ajmg.a.36216
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http://dx.doi.org/10.1002/ajmg.a.36216DOI Listing
January 2014

Congenital malformations of the hand and forearm in children: what radiologists should know.

Semin Musculoskelet Radiol 2012 Apr 30;16(2):146-58. Epub 2012 May 30.

Department of Pediatric Radiology, Jeanne de Flandre Hospital, Lille, France.

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http://dx.doi.org/10.1055/s-0032-1311766DOI Listing
April 2012

Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia.

Eur J Med Genet 2011 Sep-Oct;54(5):e525-7. Epub 2011 Jul 14.

Service de Génétique Clinique, Hôpital Jeanne de Flandre, Lille, France.

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http://dx.doi.org/10.1016/j.ejmg.2011.06.011DOI Listing
December 2011

Crane-Heise syndrome: two further case reports.

Eur J Med Genet 2011 Mar-Apr;54(2):169-72. Epub 2010 Nov 20.

Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU, 59037 Lille, France.

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http://dx.doi.org/10.1016/j.ejmg.2010.11.004DOI Listing
August 2011

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array.

Eur J Med Genet 2008 Mar-Apr;51(2):172-7. Epub 2008 Jan 14.

Laboratoires de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU de Lille, France.

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http://dx.doi.org/10.1016/j.ejmg.2007.12.002DOI Listing
June 2008

A new mutation in TP63 is associated with age-related pathology.

Eur J Hum Genet 2007 Nov 4;15(11):1115-20. Epub 2007 Jul 4.

Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU, Lille, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201888DOI Listing
November 2007

Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.

Eur J Hum Genet 2006 May;14(5):549-54

Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand.

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http://dx.doi.org/10.1038/sj.ejhg.5201586DOI Listing
May 2006

Pre- and postnatal diagnosis of limb anomalies: a series of 107 cases.

Am J Med Genet A 2004 Feb;124A(4):417-22

Service de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU, 59037 Lille Cedex, France.

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http://dx.doi.org/10.1002/ajmg.a.20359DOI Listing
February 2004

Schinzel-Giedion syndrome and alacrima: a case first described in 1996.

Am J Med Genet A 2003 Jul;120A(2):292-3

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http://dx.doi.org/10.1002/ajmg.a.20235DOI Listing
July 2003