Claude Besmond

Claude Besmond

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Claude Besmond

Claude Besmond

Publications by authors named "Claude Besmond"

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Exome sequencing of extreme phenotypes in bronchopulmonary dysplasia.

Eur J Pediatr 2019 Dec 17. Epub 2019 Dec 17.

AP-HP, Hôpital Necker-Enfants Malades, Service de Pneumologie Pédiatrique, Centre de Référence pour les Maladies Respiratoires Rares de l'Enfant, Paris, France.

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http://dx.doi.org/10.1007/s00431-019-03535-0DOI Listing
December 2019

[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

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

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

High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency.

J Med Genet 2018 Jun 22;55(6):378-383. Epub 2018 Jan 22.

Department of Pediatric Radiology, INSERM UMR 1163 and INSERM U1000, Paris Descartes University, Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-105094DOI Listing
June 2018

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

Pathways systematically associated to Hirschsprung's disease.

Orphanet J Rare Dis 2013 Dec 2;8:187. Epub 2013 Dec 2.

Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Av, Manuel Siurot s/n, Seville, 41013, Spain.

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http://dx.doi.org/10.1186/1750-1172-8-187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3879038PMC
December 2013

Evaluation of methods for amplification of picogram amounts of total RNA for whole genome expression profiling.

BMC Genomics 2009 May 26;10:246. Epub 2009 May 26.

Institut Curie, Département de Transfert, 26 Rue d'ULM, F-75248, Paris cedex 05, France.

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http://dx.doi.org/10.1186/1471-2164-10-246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2700135PMC
May 2009

Enhanced cloning efficiency of mouse bone marrow macrophage progenitors correlates with increased content of CSF-1 receptor of their progeny at low oxygen tension.

Microbes Infect 2003 Oct;5(12):1064-9

Hôpital Necker-Enfants-Malades, Inserm U393, Tour Lavoisier, 2e étage, 149, rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.micinf.2003.07.005DOI Listing
October 2003

Characterization of a putative type IV aminophospholipid transporter P-type ATPase.

Mamm Genome 2003 Jan;14(1):21-30

Hôpital Necker-Enfants Malades, INSERM U393, Tour Lavoisier, 2 ème étage, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1007/s00335-002-3032-3DOI Listing
January 2003