Publications by authors named "James Lespinasse"

44Publications

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

J Med Genet 2019 08 28;56(8):526-535. Epub 2019 Mar 28.

Service de Génétique, Hospices Civils de Lyon, Bron, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2018-105778DOI Listing
August 2019

Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia.

Genet Med 2018 04 24;20(4):458-463. Epub 2017 Aug 24.

Department of Genetics and Microbiology, Genetics Department of Hospital de les Santes Creus i Sant Pau, Universitat Autònoma de Barcelona, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2017.124DOI Listing
April 2018

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

PLoS Genet 2014 Sep 4;10(9):e1004580. Epub 2014 Sep 4.

Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France; CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France; University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France; FondaMental Foundation, Créteil, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1004580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154644PMC
September 2014

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

Am J Med Genet A 2013 Dec 16;161A(12):3063-71. Epub 2013 Aug 16.

Service de Génétique and Centre de Référence des Anomalies du Développement, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Lyon, France; INSERM U1028, CNRS, UMR5292, Lyon Neuroscience Research Center, TIGER Team, University Claude Bernard Lyon 1, Université de Lyon, Lyon, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36162DOI Listing
December 2013

Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.

Prenat Diagn 2010 Nov;30(11):1072-8

Département de Génétique et Procréation, CHU de Grenoble, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.2613DOI Listing
November 2010

Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms.

Eur J Med Genet 2009 Jan-Feb;52(1):49-52. Epub 2008 Oct 21.

Cytogenetic Laboratory, General Hospital, BP 1125, 73011 Chambery Cedex, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2008.10.001DOI Listing
April 2009

Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome.

Eur J Med Genet 2008 Sep-Oct;51(5):472-8. Epub 2008 May 2.

Department of Gynecology and Obstetrics, General Hospital, BP 1125, 73011 Chambery cedex, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2008.04.002DOI Listing
November 2008

Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome.

Eur J Hum Genet 2008 Jul 20;16(7):865-8. Epub 2008 Feb 20.

Laboratoire de biochimie et génétique moléculaire, hôpital Cochin, APHP, Paris, France.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ejhg200815
Publisher Site
http://dx.doi.org/10.1038/ejhg.2008.15DOI Listing
July 2008

Non-disjunction of chromosome 13.

Hum Mol Genet 2007 Aug 21;16(16):2004-10. Epub 2007 Jun 21.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddm148DOI Listing
August 2007

Chromosome Y polysomy: a non-mosaic 49,XYYYY case.

Clin Dysmorphol 2007 Jan;16(1):65-6

Department of Molecular Genetics and Biochemistry, Pittsburgh University, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.mcd.0000228423.04908.0cDOI Listing
January 2007

[Polycystic kidney diseases: molecular genetics and counselling].

Nephrol Ther 2006 Jul 27;2(3):120-6. Epub 2006 Jun 27.

Division de génétique médicale, hôpital Sainte-Justine, Montréal, Québec, Canada.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S176972550600042
Publisher Site
http://dx.doi.org/10.1016/j.nephro.2006.03.001DOI Listing
July 2006

The genetic basis of the Pierre Robin Sequence.

Cleft Palate Craniofac J 2006 Mar;43(2):155-9

Clinic for Plastic and Reconstructive Surgery and Burns Unit, University Hospital of Copenhagen, Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1597/05-008.1DOI Listing
March 2006

[Anomalies of sex chromosomes in amniocentesis].

Rev Med Suisse Romande 2004 Mar;124(3):167-9

Division de Génétique Médicale Hôpitoux Universitaires de Genève.

View Article

Download full-text PDF

Source
March 2004

Three new cases of non-Hodgkin lymphoma with t(9;14)(p13;q32).

Cancer Genet Cytogenet 2003 Aug;145(1):65-9

Laboratoire de Génétique Médicale, Hôpital Jeanne de Flandre, Barre Nord CHRU, Lille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0165-4608(03)00054-2DOI Listing
August 2003

Clinical, cytogenetic, and molecular description of a FRAXE French family.

Psychiatr Genet 2003 Mar;13(1):43-6

Laboratoire de Génétique, Hôpital E Herriot, Lyon, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/00041444-200303000-00007DOI Listing
March 2003