Publications by authors named "Nathalie Pouvreau"

12Publications

Prenatal findings in cardio-facio-cutaneous syndrome.

Am J Med Genet A 2016 Feb 22;170A(2):441-445. Epub 2015 Oct 22.

Centre de référence des anomalies du développement et syndrome malformatif PACA, Département de Génétique Médicale, Hôpital de la Timone Enfant, AP-HM, Marseille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37420DOI Listing
February 2016

Differentiating Transient Idiopathic Hyperglycaemia and Neonatal Diabetes Mellitus in Preterm Infants.

Horm Res Paediatr 2015 12;84(1):68-72. Epub 2015 May 12.

Paediatric Endocrinology, Gynaecology, and Diabetology, Necker Enfants-Malades Teaching Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000381621DOI Listing
May 2016

Juvenile myelomonocytic leukaemia and Noonan syndrome.

J Med Genet 2014 Oct 5;51(10):689-97. Epub 2014 Aug 5.

INSERM UMR_S1131, Institut Universitaire d'Hématologie, Université Paris Diderot, Paris-Sorbonne-Cité, Paris, France Département de Génétique, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Paris, France.

View Article

Download full-text PDF

Source
http://jmg.bmj.com/content/early/2014/08/05/jmedgenet-2014-1
Web Search
http://jmg.bmj.com/cgi/doi/10.1136/jmedgenet-2014-102611
Publisher Site
http://dx.doi.org/10.1136/jmedgenet-2014-102611DOI Listing
October 2014

De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.

Am J Med Genet A 2014 Sep 28;164A(9):2335-7. Epub 2014 May 28.

Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII-Denis Diderot Medical School and INSERM UMR 1141 "PROTECT", Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36619DOI Listing
September 2014

Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia.

Am J Med Genet A 2012 Oct 7;158A(10):2407-11. Epub 2012 Aug 7.

Department of Genetics, AP-HP-Robert Debré Hospital, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35513DOI Listing
October 2012

Influence of gap and overlap paradigms on saccade latencies and vergence eye movements in seven-year-old children.

Exp Brain Res 2005 Jul 23;164(1):48-57. Epub 2005 Feb 23.

Laboratoire de Physiologie de la Perception et de 1'Action, UMR 7125, CNRS-College de France 11, Place Marcelin Berthelot, 75005, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00221-005-2214-0DOI Listing
July 2005