Sylvie Manouvrier

Sylvie Manouvrier

UNVERIFIED PROFILE

Are you Sylvie Manouvrier?   Register this Author

Register author
Sylvie Manouvrier

Sylvie Manouvrier

Publications by authors named "Sylvie Manouvrier"

Are you Sylvie Manouvrier?   Register this Author

29Publications

1283Reads

18Profile Views

MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France.

Genes Chromosomes Cancer 2019 Aug 21. Epub 2019 Aug 21.

Department of Biochemistry and Molecular Biology, Inserm UMR-S1172 - Jean-Pierre Aubert Research Center, Lille University, and Lille University Hospital, Lille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/gcc.22804DOI Listing
August 2019

Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.

Am J Med Genet A 2017 Nov 21;173(11):3114-3117. Epub 2017 Sep 21.

Service de Génétique Clinique, Chromosomique et Moléculaire, CHU-Hôpital Nord, Saint Etienne, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38475DOI Listing
November 2017

WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion.

Am J Med Genet A 2017 Jun 11;173(6):1690-1693. Epub 2017 Apr 11.

Service de Génétique Clinique Guy Fontaine et Université de Lille 2, Hôpital Jeanne de Flandre, Lille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38206DOI Listing
June 2017

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.

Genet Med 2015 Aug 13;17(8):651-9. Epub 2014 Nov 13.

1] Harvard Reproductive Endocrine Sciences Center and the Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA [2] Department of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital (CHUV), Lausanne, Switzerland [3] Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2014.166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430466PMC
August 2015

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

Eur J Hum Genet 2014 Feb 15;22(2):289-92. Epub 2013 May 15.

Departement de Genetique Medicale, Centre de Reference Maladies Rares Anomalies du Developpement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hopital Arnaud de Villeneuve CHRU Montpellier, Faculte de Medecine Universite Montpellier 1, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895633PMC
February 2014

Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility.

Hum Mutat 2012 Jan 31;33(1):180-8. Epub 2011 Oct 31.

Oncologie et Génétique Moléculaires, Service de Biochimie et Biologie Moléculaire HMNO, CHRU de Lille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.21617DOI Listing
January 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.

View Article

Download full-text PDF

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

Genetic testing for hereditary cancer: effects of alexithymia and coping strategies on variations in anxiety before and after result disclosure.

Psychol Health 2011 Jul 24;26(7):855-73. Epub 2011 May 24.

Center for Research in Psychology of Cognition, Language and Emotion, Aix Marseille I University, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/08870446.2010.506575DOI Listing
July 2011

Metaphyseal chondrodysplasia with cone-shaped epiphyses: a specific form involving the lower limbs.

Am J Med Genet A 2004 Jan;124A(1):60-6

Service of Genetics, Hôpital Jeanne de Flandre, CHRU 59037 de Lille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.20411DOI Listing
January 2004

Alveolar capillary dysplasia: a cause of persistent pulmonary hypertension of the newborn.

Eur J Pediatr 2002 May 23;161(5):262-6. Epub 2002 Mar 23.

Department of Neonatology, Service de Médecine Néonatale, Hôpital Jeanne de Flandre, CHRU de Lille, Lille cédex 59037, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-002-0927-7DOI Listing
May 2002