Publications by authors named "Laurence Hubert"

37Publications

[Twenty years of on-site clinical genetics consultations for people with ASD].

Med Sci (Paris) 2019 Nov 17;35(11):843-851. Epub 2019 Dec 17.

Fédération de Génétique Médicale et Institute Imagine, UMR Inserm 1163, Université Paris-Descartes, Hôpital Necker Enfants-Malades et Fondation Elan Retrouvé, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1051/medsci/2019170DOI Listing
November 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

Mutations in TBR1 gene leads to cortical malformations and intellectual disability.

Eur J Med Genet 2018 Dec 27;61(12):759-764. Epub 2018 Sep 27.

Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Pediatric Neurology, APHP- Necker Enfants Malades University Hospital, Paris, France; Reference Center "Déficiences Intellectuelles de Causes Rares", APHP- Necker Enfantes Malades University Hospital, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173079
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http://dx.doi.org/10.1016/j.ejmg.2018.09.012DOI Listing
December 2018

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

Neurogenetics 2017 01 10;18(1):23-28. Epub 2016 Oct 10.

Department of Pediatric Neurology, Necker Enfants Malades Hospital, APHP, 149 rue de Sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1007/s10048-016-0498-9DOI Listing
January 2017

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.

Neurogenetics 2016 Jan 19;17(1):79-82. Epub 2015 Sep 19.

Imagine Institute, Paris Descartes - Sorbonne Paris Cité University, Paris, France.

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http://dx.doi.org/10.1007/s10048-015-0459-8DOI Listing
January 2016

Aromatic L-amino acid decarboxylase deficiency is a cause of long-fasting hypoglycemia.

J Clin Endocrinol Metab 2013 Nov 13;98(11):4279-84. Epub 2013 Sep 13.

MD, Reference Center for Inherited Metabolic Diseases, Necker-Enfants Malades Hospital, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1210/jc.2013-2740DOI Listing
November 2013

Fatal rhabdomyolysis in 2 children with LPIN1 mutations.

J Pediatr 2012 Jun 4;160(6):1052-4. Epub 2012 Apr 4.

Pediatric Intensive Care Unit, Assistance publique des hôpitaux de Paris, Hospital Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1016/j.jpeds.2012.02.033DOI Listing
June 2012

Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.

Am J Hum Genet 2008 Oct 25;83(4):489-94. Epub 2008 Sep 25.

The Metabolic Disease Unit, Hadassah, Hebrew University Medical Center, Jerusalem 91120, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2008.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2561931PMC
October 2008

The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism.

J Clin Endocrinol Metab 2006 Oct 1;91(10):4118-23. Epub 2006 Aug 1.

INSERM U654, and Department of Genetics, Hôpital Henri Mondor, 51 Avenue du Marechal de Lattre de Tassigny, 94010 Creteil Cedex, France.

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http://dx.doi.org/10.1210/jc.2006-0397DOI Listing
October 2006

Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice.

Hum Genet 2006 Jun 22;119(5):520-6. Epub 2006 Mar 22.

INSERM U781, Clinique M. Lamy, 2ème étage, Hôpital Necker Enfants Malades, 149 rue de Sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1007/s00439-006-0164-7DOI Listing
June 2006