Publications by authors named "Sylvie Manouvrier"

32Publications

Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.

Hum Mutat 2020 Sep 15;41(9):1499-1506. Epub 2020 Jul 15.

Service de Génétique, Centre de Référence Anomalies du Développement et Centre de Compétences Maladies Osseuses Constitutionnelles, Hospices Civils de Lyon, Bron, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.24070DOI Listing
September 2020

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 2020 02 3;59(2):111-118. Epub 2019 Sep 3.

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
February 2020

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

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

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

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