James Lespinasse

James Lespinasse

UNVERIFIED PROFILE

Are you James Lespinasse?   Register this Author

Register author
James Lespinasse

James Lespinasse

Publications by authors named "James Lespinasse"

Are you James Lespinasse?   Register this Author

39Publications

1489Reads

13Profile Views

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

J Med Genet 2019 Aug 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/10.1097/01.ypg.0000054710.85338.15DOI Listing
March 2003