Genevieve Lefort

Genevieve Lefort

UNVERIFIED PROFILE

Are you Genevieve Lefort?   Register this Author

Register author
Genevieve Lefort

Genevieve Lefort

Publications by authors named "Genevieve Lefort"

Are you Genevieve Lefort?   Register this Author

21Publications

527Reads

8Profile Views

Chromothripsis: potential origin in gametogenesis and preimplantation cell divisions. A review.

Fertil Steril 2014 Dec 18;102(6):1785-96. Epub 2014 Oct 18.

Laboratory of Chromosomal Genetics, Department of Medical Genetics, Arnaud de Villeneuve Hospital, Montpellier CHRU, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fertnstert.2014.09.006DOI Listing
December 2014

Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneity.

Am J Med Genet A 2014 Mar 19;164A(3):769-73. Epub 2013 Dec 19.

Département de Génétique Médicale, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, CHRU Montpellier, Faculté de Médecine Université Montpellier 1, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36331DOI Listing
March 2014

[Chromothripsis, an unexpected novel form of complexity for chromosomal rearrangements].

Med Sci (Paris) 2014 Mar 31;30(3):266-73. Epub 2014 Mar 31.

Laboratoire de génétique chromosomique, hôpital Arnaud de Villeneuve, CHRU de Montpellier, 371, avenue du doyen Gaston Giraud, 34295 Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1051/medsci/20143003014DOI Listing
March 2014

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

Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.

Eur J Hum Genet 2014 Jan 10;22(1):136-9. Epub 2013 Apr 10.

1] Département de Génétique Médicale, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, CHRU Montpellier, Faculté de Médecine Université Montpellier 1, Montpellier, France [2] Unité INSERM U844, Institut des Neurosciences de Montpellier, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.56DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865400PMC
January 2014

CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.

Am J Med Genet A 2014 Jan 20;164A(1):177-81. Epub 2013 Nov 20.

Département de Génétique Médicale, Centre Hospitalier Universitaire, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36166DOI Listing
January 2014

[Complex chromosomal rearrangements: a paradigm for the study of chromosomal instability].

Med Sci (Paris) 2014 Jan 24;30(1):55-63. Epub 2014 Jan 24.

Laboratoire de génétique chromosomique, hôpital Arnaud de Villeneuve, CHRU de Montpellier, 371, avenue du doyen Gaston Giraud, 34295 Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1051/medsci/20143001014DOI Listing
January 2014

Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.

Eur J Hum Genet 2012 May 18;20(5):580-3. Epub 2012 Jan 18.

Département de Pédiatrie spécialisée, Unité de Néphrologie et Endocrinologie pédiatrique, CHRU Montpellier, Faculté de Médecine de Montpellier-Nîmes, Université Montpellier 1, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2011.243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3330221PMC
May 2012

Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier.

Fertil Steril 2011 Jun 2;95(7):2433.e17-22. Epub 2011 Mar 2.

INSERM U 847, Institute for Research in Biotherapy, CHRU Montpellier, Université Montpellier 1, and Department of Cytogenetics, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fertnstert.2011.01.159DOI Listing
June 2011

Epiphyseal punctate calcifications (stippling) in complete trisomy 9.

Prenat Diagn 2009 Nov;29(11):1085-8

Service de Génétique Médicale et Chromosomique, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Université Montpellier 1, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.2350DOI Listing
November 2009

Prader-Willi syndrome: is there a recognizable fetal phenotype?

Prenat Diagn 2008 Sep;28(9):796-9

Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Service de Génétique Médicale, Hôpital Arnaud de Villeneuve, Centre Hospitalier Régional et Universitaire, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.1973DOI Listing
September 2008

Analysis of sperm aneuploidy by PRINS.

Methods Mol Biol 2006 ;334:49-59

Institute of Human Genetics, CNRS UPR 1142, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1385/1-59745-068-5:49DOI Listing
August 2006

Partial epilepsy and 47,XXX karyotype: report of four cases.

Pediatr Neurol 2006 Jul;35(1):69-74

Service de Neuropédiatrie, Hôpital Gui de Chauliac, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2006.01.003DOI Listing
July 2006

Rapid detection of common autosomal aneuploidies by quantitative fluorescent PCR on uncultured amniocytes.

Eur J Hum Genet 2002 Aug;10(8):462-6

Laboratoire de Génétique - EA 3441, CHU Nancy-Brabois, Avenue du Morvan, Vandoeuvre les Nancy, Cedex 54511, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5200833DOI Listing
August 2002