Publications by authors named "Stephanie Gobin"

19Publications

Autism spectrum disorders in propionic acidemia patients.

J Inherit Metab Dis 2018 07 30;41(4):623-629. Epub 2017 Aug 30.

Service de Pédopsychiatrie, Hôpital Necker-Enfants Malades, Université Paris Descartes, APHP, 149 rue de Sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1007/s10545-017-0070-2DOI Listing
July 2018

Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions.

Hum Pathol 2017 Apr 11;62:160-169. Epub 2017 Jan 11.

Pathology Department Hôpital Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris, Université Sorbonne Paris Cité, 75015, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.humpath.2016.12.021DOI Listing
April 2017

Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?

Eur J Med Genet 2014 Jan 1;57(1):15-20. Epub 2013 Nov 1.

Department of Neuropediatrics, Centre de Reference des Epilepsies Rares, Hopital Necker Enfants Malades, Paris Descartes University, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.10.006DOI Listing
January 2014

Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies.

Eur J Hum Genet 2010 Oct 26;18(10):1166-9. Epub 2010 May 26.

Service de Biochimie-Génétique et Inserm U955 Equipe 11, Groupe Hospitalier Henri Mondor-Albert Chenevier, APHP, Créteil, France.

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http://dx.doi.org/10.1038/ejhg.2010.80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987450PMC
October 2010

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.

Eur J Hum Genet 2010 Mar 21;18(3):285-90. Epub 2009 Oct 21.

Département de Génétique, Université Paris Descartes, INSERM U781, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2009.159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987214PMC
March 2010

[Therapeutic effect of human mesenchymal stem cells in skin after radiation damage].

J Soc Biol 2005 ;199(4):337-41

Service de Génomique Fonctionnelle, CEA, 2, rue Gaston Crémieux, Evry, 91057 France.

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http://dx.doi.org/10.1051/jbio:2005035DOI Listing
August 2006

Demonstration of N- and C-terminal domain intramolecular interactions in rat liver carnitine palmitoyltransferase 1 that determine its degree of malonyl-CoA sensitivity.

Biochem J 2005 Apr;387(Pt 1):67-76

Département d'Endocrinologie, Institut Cochin, INSERM U567, CNRS Unité Mixte de Recherche 8104, Université René Descartes, 24 rue du Faubourg Saint-Jacques, 75014 Paris, France.

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http://dx.doi.org/10.1042/BJ20041533DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1134933PMC
April 2005

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects.

Mol Aspects Med 2004 Oct-Dec;25(5-6):495-520

INSERM Unit U393, Assistance Publique - Hôpitaux de Paris, CHU Necker-Enfants Malades, Tour Lavoisier 2 étage, 149 rue de Sèvres, 75743 Paris Cedex 15, France.

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http://dx.doi.org/10.1016/j.mam.2004.06.004DOI Listing
October 2005

Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.

J Biol Chem 2003 Dec 29;278(50):50428-34. Epub 2003 Sep 29.

Département d'Endocrinologie, Institut Cochin, INSERM U567, CNRS Unité Mixte de Recherche 8104, Université René Descartes, 24 Rue du Faubourg Saint-Jacques, 75014 Paris, France.

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http://tonglab.biology.columbia.edu/Research/crat_cpt.pdf
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http://www.jbc.org/cgi/doi/10.1074/jbc.M310130200
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http://dx.doi.org/10.1074/jbc.M310130200DOI Listing
December 2003