Publications by authors named "Marie Legendre"

57Publications

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 Apr 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

Bi-allelic missense mutations in a patient with childhood ILD who reached adulthood.

ERJ Open Res 2019 Jul 22;5(3). Epub 2019 Jul 22.

2nd Pulmonary Medicine Dept, General University Hospital "Attikon", Medical School, National and Kapodistrian University of Athens, Athens, Greece.

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http://dx.doi.org/10.1183/23120541.00066-2019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6646961PMC
July 2019

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

A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia.

Indian J Pediatr 2019 07 14;86(7):664-665. Epub 2019 May 14.

U.F. de Génétique moléculaire, Hôpital Armand Trousseau, Paris, France.

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http://dx.doi.org/10.1007/s12098-019-02970-zDOI Listing
July 2019

A Nonsmoker Man in His 40s With a Diagnosis of Genetic-Related Idiopathic Pulmonary Fibrosis (Surfactant-Protein C Gene Mutation).

Chest 2019 04;155(4):e91-e96

Department of Cardiac-Thoracic-Vascular Sciences and Public Health, University of Padova, Padova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.chest.2018.12.015DOI Listing
April 2019

Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias.

Sex Dev 2017 13;11(5-6):293-297. Epub 2018 Jan 13.

Department of Pediatric Surgery and Urology, Robert-Debré Pediatric Hospital, APHP, Paris, France.

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http://dx.doi.org/10.1159/000485909DOI Listing
October 2018

Association of hidradenitis suppurativa and familial Mediterranean fever: A case series of 6 patients.

Joint Bone Spine 2017 Mar 26;84(2):159-162. Epub 2016 May 26.

Service de médecine interne, centre de référence des amyloses d'origine inflammatoire et de la fièvre méditerranéenne familiale, hôpital Tenon, Assistance publique-Hôpitaux de Paris (AP-HP), université Paris 6, Pierre-et-Marie-Curie (UPMC), 20, rue de la Chine, 75020 Paris, France; Inserm UMRS_933, hôpital Trousseau, AP-HP université Pierre-et Marie-Curie (UPMC)-Paris 6, Paris, France.

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http://dx.doi.org/10.1016/j.jbspin.2016.02.021DOI Listing
March 2017

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

Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray.

J Paediatr Child Health 2016 Jan 30;52(1):85-9. Epub 2015 Jul 30.

Department of Paediatrics, University of Western Sydney School of Medicine, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/jpc.12981DOI Listing
January 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

Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report.

J Med Case Rep 2014 Dec 29;8:471. Epub 2014 Dec 29.

Centre de génomique humaine, Faculté de médecine et pharmacie, Université Mohammed V Souissi, Angle Avenue Allal El Fassi et Mfadel Cherkaoui, 10100 Rabat, Morocco.

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http://jmedicalcasereports.biomedcentral.com/articles/10.118
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http://dx.doi.org/10.1186/1752-1947-8-471DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320515PMC
December 2014

Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities.

Eur J Endocrinol 2012 Jul 24;167(1):85-91. Epub 2012 Apr 24.

Inserm U.933, Hôpital Armand-Trousseau, Université Pierre et Marie Curie-Paris 6, 75571 Paris Cedex 12, France.

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http://dx.doi.org/10.1530/EJE-12-0026DOI Listing
July 2012

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

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

Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor.

J Clin Endocrinol Metab 2009 Nov 29;94(11):4334-41. Epub 2009 Sep 29.

INSERM, U933, 75011 Paris, France.

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http://dx.doi.org/10.1210/jc.2009-1327DOI Listing
November 2009

Y-chromosome AZFc structural architecture and relationship to male fertility.

Fertil Steril 2009 Dec 6;92(6):1924-33. Epub 2008 Nov 6.

Human Developmental Genetics, Institut Pasteur, Paris, France.

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http://dx.doi.org/10.1016/j.fertnstert.2008.08.135DOI Listing
December 2009

Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco.

J Cyst Fibros 2008 Sep 1;7(5):440-3. Epub 2008 Feb 1.

Service de Biochimie et Génétique, AP-HP et INSERM U841 équipe 11, groupe hospitalier Henri Mondor-Albert Chenevier, 94010 Créteil, France.

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http://dx.doi.org/10.1016/j.jcf.2007.12.006DOI Listing
September 2008

Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype.

Hum Mutat 2005 Apr;25(4):360-71

Institut National de la Santé et de la Recherche Médicale (INSERM) U. 468, Hôpital Henri Mondor, Créteil, France.

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http://dx.doi.org/10.1002/humu.20156DOI Listing
April 2005

Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations.

Clin Chem 2003 Nov;49(11):1942-5

Service de Biochimie et de Génétique Moléculaire, Hôpital Henri Mondor, AP-HP, 94010 Créteil, France.

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http://dx.doi.org/10.1373/clinchem.2003.021212DOI Listing
November 2003

The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever.

Hum Mutat 2003 Oct;22(4):339-40

Service de Biochimie, hôpital Henri-Mondor, Créteil, France.

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http://doi.wiley.com/10.1002/humu.9182
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http://dx.doi.org/10.1002/humu.9182DOI Listing
October 2003

TCGAP, a multidomain Rho GTPase-activating protein involved in insulin-stimulated glucose transport.

EMBO J 2003 Jun;22(11):2679-91

Life Sciences Institute, Department of Medicine, University of Michigan School of Medicine, Ann Arbor, MI 48109-0650, USA.

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http://emboj.embopress.org/cgi/doi/10.1093/emboj/cdg262
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http://dx.doi.org/10.1093/emboj/cdg262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC156759PMC
June 2003