Publications by authors named "Karine Poirier"

53Publications

Anorexia nervosa is associated with Neuronatin variants.

Psychiatr Genet 2019 08;29(4):103-110

Clinique des maladies mentales et de l'encéphale, Hôpital Sainte-Anne, Université Paris-Descartes.

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http://dx.doi.org/10.1097/YPG.0000000000000224DOI Listing
August 2019

Novel KDM5B splice variants identified in patients with developmental disorders: Functional consequences.

Gene 2018 Dec 12;679:305-313. Epub 2018 Sep 12.

Inserm, U1016, Institut Cochin, Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Paris, France; CNRS, UMR8104, Paris, France; Institut de Psychiatrie et de Neurosciences de Paris, 102 rue de la santé, 75014 Paris, France; Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, AP-HP, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2018.09.016DOI Listing
December 2018

Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.

J Neuropathol Exp Neurol 2017 03;76(3):195-205

Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris and INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris France.

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http://dx.doi.org/10.1093/jnen/nlw124DOI Listing
March 2017

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.

Eur J Med Genet 2016 Apr 28;59(4):249-56. Epub 2015 Dec 28.

Inserm, U1016, Institut Cochin, Paris, France; CNRS, UMR8104, Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2015.12.007DOI Listing
April 2016

Rare ACTG1 variants in fetal microlissencephaly.

Eur J Med Genet 2015 Aug 16;58(8):416-8. Epub 2015 Jul 16.

Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France; Institut Imagine-INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212150011
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http://dx.doi.org/10.1016/j.ejmg.2015.06.006DOI Listing
August 2015

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.

Neurology 2014 Mar 5;82(12):1068-75. Epub 2014 Mar 5.

From INSERM (S.B., B.D., B.O.A.B., P.C., J.R., E.N., K.H.E.H., E.L.), U1127; Sorbonne Universités, UPMC Univ Paris 06 (S.B., B.D., B.O.A.B., P.C., J.R., E.N., K.H.E.H., E.L.), UM 75; CNRS (S.B., B.D., B.O.A.B., P.C., J.R., E.N., K.H.E.H., E.L.), UMR 7225, ICM, Paris, ICM, (S.B., B.D., B.O.A.B., P.C., J.R., E.N., K.H.E.H., E.L.) Paris, F-75013 Paris, France; Department of Human Genetics (G.M.L., P.A.L., C.J.F., M.H.M.), University of Michigan, Ann Arbor; Service de Neurophysiologie Clinique (B.O.A.B.), Hôpital des Spécialités, Centre Hospitalier Ibn Sina Rabat, Morocco; Genetics and Pathophysiology of Neurodevelopmental and Neuromuscular Diseases (K.P.), Cochin Institute, Paris; GenoScreen (C.H., S.F.), Lille, France; Neuroscience Department (R.G.), Children's Hospital A. Meyer, University of Florence and IRCCS Stella Maris, Pisa, Italy; Laboratoire de Neurogénétique (K.H.E.H.), Ecole Pratique des Hautes Etudes, Paris; and Département de Génétique et de Cytogénétique (E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000000241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962989PMC
March 2014

Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown.

Hum Mol Genet 2014 Mar 30;23(6):1516-26. Epub 2013 Oct 30.

Institut Cochin, Université Paris Descartes, CNRS (UMR 8104), Paris F75014, France.

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http://dx.doi.org/10.1093/hmg/ddt538DOI Listing
March 2014

Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype.

Acta Neuropathol 2010 Jun 8;119(6):779-89. Epub 2010 Apr 8.

Faculty of Medicine, INSERM, U614, IFRMP23, Rouen Institute for Medical Research and Innovation, University of Rouen, Rouen, France.

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http://dx.doi.org/10.1007/s00401-010-0684-zDOI Listing
June 2010

Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene.

Am J Med Genet B Neuropsychiatr Genet 2010 Jan;153B(1):202-7

Service de Neurologie Pédiatrique, Département de Pédiatrie, Hôpital Necker Enfants Malades, AP-HP, Paris, France.

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http://dx.doi.org/10.1002/ajmg.b.30974DOI Listing
January 2010

The ARX mutations: a frequent cause of X-linked mental retardation.

Am J Med Genet A 2006 Apr;140(7):727-32

Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, Warsaw, Poland.

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http://dx.doi.org/10.1002/ajmg.a.31151DOI Listing
April 2006

The role of ARX in cortical development.

Eur J Neurosci 2006 Feb;23(4):869-76

Department of Anatomy and Developmental Biology, University College London, London WC1E 6BT, UK.

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http://doi.wiley.com/10.1111/j.1460-9568.2006.04629.x
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http://dx.doi.org/10.1111/j.1460-9568.2006.04629.xDOI Listing
February 2006

Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons.

Brain Res Mol Brain Res 2004 Mar;122(1):35-46

Laboratoire de Génétique et de Physiopathologie des Retards Mentaux, Institut Cochin. Inserm U567, Université Paris V. 24, rue du Faubourg Saint Jacques, 75014 Paris, France.

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http://dx.doi.org/10.1016/j.molbrainres.2003.11.021DOI Listing
March 2004

Loss of parental-specific methylation at the IGF2 locus in human hepatocellular carcinoma.

J Pathol 2003 Nov;201(3):473-9

GDPM-Institut Cochin-INSERM-CNRS-Université Paris V-CHU Cochin, 24 Rue du Faubourg Saint-Jacques, 75014 Paris, France.

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http://dx.doi.org/10.1002/path.1477DOI Listing
November 2003

In vitro follicular growth affects oocyte imprinting establishment in mice.

Eur J Hum Genet 2003 Jul;11(7):493-6

GDPM, Institut Cochin, INSERM, CNRS-Université Paris V and CHU Cochin, 24 rue du Faubourg Saint-Jacques, 75014 Paris, France.

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http://dx.doi.org/10.1038/sj.ejhg.5200990DOI Listing
July 2003