Publications by authors named "Bruno Copin"

23Publications

NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations.

J Allergy Clin Immunol 2020 Apr 6;145(4):1254-1261. Epub 2019 Dec 6.

Sorbonne Université, Institut National de la Santé et de la Recherche Médicale (INSERM), "Childhood genetic disorders", Paris, France; Département de Génétique Médicale, Hôpital Armand Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.11.035DOI Listing
April 2020

Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.

J Med Genet 2020 04 26;57(4):237-244. Epub 2019 Nov 26.

Universite Paris-Est, Faculte de Médecine, INSERM (Institut National pour la Santé et la Recherche Médicale) UMR_S955, Equipe 13, CNRS (Centre National pour la Recherche Scientifique), ERL 7000, Creteil, France.

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http://dx.doi.org/10.1136/jmedgenet-2019-106424DOI Listing
April 2020

Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria.

J Invest Dermatol 2020 04 9;140(4):791-798.e2. Epub 2019 Sep 9.

Sorbonne Université, INSERM, Hôpital Trousseau, Maladies génétiques d'expression pédiatrique, Paris, France; Unité Fonctionnelle de génétique moléculaire, Assistance Publique-Hôpitaux de Paris, Hôpital Trousseau, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2019.06.153DOI Listing
April 2020

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.

Am J Hum Genet 2019 07 6;105(1):198-212. Epub 2019 Jun 6.

Sorbonne Université, Institut National de la Santé et de la Recherche Médicale U933, Hôpital Trousseau, Paris 75012, France; Assistance Publique-Hôpitaux de Paris, Département de Génétique Médicale, Hôpital Trousseau, Paris 75012, France.

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http://dx.doi.org/10.1016/j.ajhg.2019.04.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612517PMC
July 2019

Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.

Hum Mol Genet 2016 Apr 19;25(8):1457-67. Epub 2016 Jan 19.

INSERM UMRS933, Université Pierre et Marie Curie (Paris 6), Sorbonne Universités, Paris 75012, France, Service de Pneumologie Pédiatrique, Hôpital Armand Trousseau, Assistance Publique Hôpitaux de Paris, Centre National de Référence des Maladies Respiratoires Rares RespiRare, Paris 75012, France.

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http://dx.doi.org/10.1093/hmg/ddw014DOI Listing
April 2016

Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.

Hum Mol Genet 2016 Feb 26;25(3):472-83. Epub 2015 Nov 26.

Inserm UMRS933, Hôpital Trousseau, Sorbonne Universités, UPMC Univ Paris, 26 Avenue du Dr Netter, Paris 75012, France, Service de Génétique et d'Embryologie Médicales, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddv486DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5007599PMC
February 2016

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.

Am J Hum Genet 2015 Jul 11;97(1):153-62. Epub 2015 Jun 11.

INSERM UMR S933, Université Pierre et Marie Curie (Paris 6), Sorbonne Universités, Paris 75012, France; Service de Génétique et Embryologie Médicales, Hôpital Armand Trousseau, Assistance Publique - Hôpitaux de Paris, Paris 75012, France.

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http://dx.doi.org/10.1016/j.ajhg.2015.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4571005PMC
July 2015

Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations.

J Clin Endocrinol Metab 2012 Mar 11;97(3):E503-9. Epub 2012 Jan 11.

Institut National de la Santé et de la Recherche Médicale Unité 933, Université Pierre et Marie Curie-Paris 6, Hôpital Armand Trousseau, 26 avenue du Docteur Arnold Netter, 75571 Paris, Cedex 12 France.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2011-2095DOI Listing
March 2012