Publications by authors named "Serge Amselem"

100Publications

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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Expression of SAA1, SAA2 and SAA4 genes in human primary monocytes and monocyte-derived macrophages.

PLoS One 2019 17;14(5):e0217005. Epub 2019 May 17.

Sorbonne Université, INSERM, UMR_S 933, Assistance Publique Hôpitaux de Paris, Hôpital Trousseau, Service de Génétique et d'Embryologie médicale, Paris, France.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0217005PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6524798PMC
January 2020

Monoclonal Gammopathy, Arthralgias, and Recurrent Fever Syndrome: A New Autoinflammatory Syndrome?

J Rheumatol 2019 11 15;46(11):1535-1539. Epub 2019 Mar 15.

From the Sorbonne Université, AP-HP, Hôpital Tenon, Service de Médecine Interne, Centre de Référence des Maladies Auto-inflammatoires et des Amyloses d'Origine Inflammatoire (CEREMAIA); Service d'Immuno-hélatologie, Hôpital St. Louis; INSERM UMRS-933, et Laboratoire de Génétique, Hôpital Trousseau, AP-HP, Faculté de Médecine, Sorbonne Université, Paris; Service de Médecine Interne, Centre Hospitalier d'Auxerre, Auxerre; Service de Médecine Interne, Centre Hospitalier Universitaire (CHU) Henri Mondor; and Service d'Immunologie Clinique, Hôpital St. Louis, Paris, France.

View Article

Download full-text PDF

Source
http://www.jrheum.org/lookup/doi/10.3899/jrheum.181204
Publisher Site
http://dx.doi.org/10.3899/jrheum.181204DOI Listing
November 2019

MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease.

N Engl J Med 2018 12 20;379(23):2209-2219. Epub 2018 Oct 20.

From Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Bichat-Claude Bernard, Departments of Rheumatology (P.-A.J., E.E., S. Ottaviani, P.D.), Genetics (C.K., C. Boileau), Pulmonology A (R.B., B.C.), Pulmonology B (G.T.), and Radiology (M.-P.D.), Département Hospitalo-Universitaire Fibrose Inflammation Remodelage, INSERM Unité Mixte de Recherche (UMR) 1152, Université Paris Diderot (P.-A.J., C.K., R.B., G.T., B.C., P.D.), Arthritis Recherche et Développement (P.-A.J.), AP-HP, Hôpital Lariboisière, Service de Rhumatologie (A. Frazier, P.R.), INSERM, UMR 1132 (P.R.), AP-HP, Hôpital Cochin, Service de Rhumatologie A, and INSERM, Unité 1016, UMR 8104 (Y.A.), AP-HP, Hôpital Tenon, Service de Pneumologie (H.L.), AP-HP, Service de Pneumologie Pédiatrique et Centre de Référence des Maladies Respiratoires Rares, and INSERM UMR S933 (N.N., S.A., A.C.), and AP-HP, Département de Génétique, Hôpital Trousseau (S.A.), Paris, Centre Hospitalier Régional Universitaire (CHRU) de Lille, Service de Pneumologie et Immuno-Allergologie, Centre de Compétence des Maladies Pulmonaires Rares, Fédératif Hospitalo-Universitaire Immune-Mediated Inflammatory Diseases and Targeted Therapies (L.W.-S., B.W.), and Centre Hospitalier Universitaire (CHU) de Lille, Service de Rhumatologie (R.-M.F.), Lille, the Departments of Pulmonology (H.N., D.V.) and Rheumatology (N.S.-K., M.-C.B.), Hôpital Avicenne, AP-HP, INSERM UMR 1125 (N.S.-K., M.-C.B.), and Université Paris 13, Sorbonne Paris Cité (N.S.-K., M.-C.B.), Bobigny, the Department of Pulmonology, CHRU Tours, Tours (S.M.-A.), CHRU de Strasbourg, Service de Rhumatologie, Hôpital de Hautepierre, INSERM UMR S1109, and Laboratoire d'Immuno-Rhumatologie Moléculaire, Centre de Recherche en Histoire des Idées, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg (J. Sibilia), Service de Pneumologie (C.D.) and Service de Rhumatologie (C.R., T.S.), CHU de Bordeaux, and ImmunoConcEpT, Centre National de la Recherche Scientifique UMR 5164 (C.R., T.S.), Bordeaux, CHU Clermont-Ferrand, Service de Rhumatologie, Institut National de la Recherche Agronomique (INRA), UMR 1019, Unité de Nutrition Humaine, Centre de Recherche en Nutrition Humaine Auvergne, Clermont-Ferrand (M.S.), and Hospices Civils de Lyon, Hôpital Louis Pradel, Centre National de Référence des Maladies Pulmonaires Rares, and INRA, UMR 754, Université Claude Bernard Lyon 1, Lyon, (V.C.) - all in France; the Departments of Medicine (J.S.L., E.D., K.D., A.D.W., A. Fischer, M.I.S., M.H., D.A.S.) and Immunology and Microbiology (D.A.S.), University of Colorado School of Medicine, Aurora, and the Departments of Biomedical Research (T.F.) and Medicine (J.J. Solomon), National Jewish Health, Denver - both in Colorado; the Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba (H.F., S. Oka, N.T.), and the Clinical Research Center for Allergy and Rheumatology, National Hospital Organization Sagamihara National Hospital, Sagamihara (H.F., S. Oka, S.T.) - both in Japan; the Department of Epidemiology, Harvard T.H. Chan School of Public Health (S.G.), and the Department of Medicine, Brigham and Women's Hospital (T.D., I.O.R.), Boston, and the Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge (S.G.) - all in Massachusetts; the Interstitial Lung Disease and Rheumatology Unit (J.R.-S., M.I.G.-P., M.M., I.B.-R.) and the HLA Laboratory (R.F.-V., E.A.-O.), Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas, Mexico City; the 2nd Pulmonary Medicine Department (E.M., S.A.P.) and the Rheumatology and Clinical Immunology Unit, 4th Department of Internal Medicine (T.K., D.B.), University Hospital of Athens "Attikon," National and Kapodistrian University of Athens, Athens, and the Department of Respiratory Medicine and the Laboratory of Molecular and Cellular Pneumonology, Faculty of Medicine, University of Crete, Crete (K.A.) - both in Greece; St. Antonius ILD Center of Excellence, St. Antonius Ziekenhuis, Nieuwegein, the Netherlands (C.H.M.M., J.V., Y.A.M., J.C.G.); the Department of Medical Genetics, Nanjing University School of Medicine, Nanjing, China (Y.W.); the Divisions of Pulmonary and Critical Care Medicine (J.H.R.) and Rheumatology (E.L.M.), Mayo Clinic College of Medicine and Science, Rochester, MN; the Colton Center for Autoimmunity, New York University School of Medicine, New York (T.B.N.); the Department of Medicine, McGill University, Montreal (D.A.); the Department of Medicine, University of California, San Francisco, San Francisco (A.G., P.W.); and Data Tecnica International, Glen Echo, and the Laboratory of Neurogenetics, National Institute on Aging, Bethesda - both in Maryland (C. Blauwendraat, M.A.N.).

View Article

Download full-text PDF

Source
http://www.nejm.org/doi/10.1056/NEJMoa1801562
Publisher Site
http://dx.doi.org/10.1056/NEJMoa1801562DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371965PMC
December 2018

Photoaging and skin cancer: Is the inflammasome the missing link?

Mech Ageing Dev 2018 06 12;172:131-137. Epub 2018 Mar 12.

Sorbonne Université, INSERM, UMR_S 933, Assistance Publique Hôpitaux de Paris, Hôpital Trousseau, Département de Génétique médicale, Paris, F-75012, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mad.2018.03.003DOI Listing
June 2018

Inflammasome biology, molecular pathology and therapeutic implications.

Pharmacol Ther 2018 07 18;187:133-149. Epub 2018 Feb 18.

Sorbonne Université, INSERM, UMR_S 933, Assistance Publique Hôpitaux de Paris, Département de Génétique médicale, Hôpital Trousseau, Paris, F-75012, France. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S01637258183003
Publisher Site
http://dx.doi.org/10.1016/j.pharmthera.2018.02.011DOI Listing
July 2018

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.

View Article

Download full-text PDF

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

Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation.

PLoS One 2017 12;12(4):e0175336. Epub 2017 Apr 12.

Sorbonne Université, UPMC Univ Paris 06, INSERM, UMR_S 933, Assistance Publique Hôpitaux de Paris, Hôpital Trousseau, Service de Génétique et d'Embryologie médicales, Paris, France.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0175336PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5389804PMC
April 2017

AA amyloidosis is an emerging cause of nephropathy in obese patients.

Eur J Intern Med 2017 04 14;39:e18-e20. Epub 2017 Feb 14.

Assistance publique-hôpitaux de Paris, hôpital Tenon, Centre de référence adulte des amyloses d'origine inflammatoire et de la fièvre méditerranéenne familiale (CERAIF), service de médecine interne, F-75020 Paris, France; Sorbonne Universités, UPMC Université Paris 06, Département hospitalo-universitaire I2B, F-75013 Paris, France; Sorbonne Université, UPMC université Paris 06, INSERM UMR_933, F-75012 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejim.2017.02.004DOI Listing
April 2017

Concordance between CRP and SAA in familial Mediterranean fever during attack-free period: A study of 218 patients.

Clin Biochem 2017 Mar 10;50(4-5):206-209. Epub 2016 Nov 10.

Assistance publique-hôpitaux de Paris, hôpital Tenon, Centre de référence adulte de la fièvre méditerranéenne familiale, service de médecine interne, F-75020 Paris, France; Sorbonne Universités, UPMC Université Paris 06, Département hospitalo-universitaire I2B, F-75013 Paris, France; Sorbonne Universités, UPMC Université Paris 06, INSERM, LIMICS, F-75005 Paris, France.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00099120163052
Publisher Site
http://dx.doi.org/10.1016/j.clinbiochem.2016.11.008DOI Listing
March 2017

Surfactant protein A: A key player in lung homeostasis.

Int J Biochem Cell Biol 2016 12 9;81(Pt A):151-155. Epub 2016 Nov 9.

Service de pneumologie pédiatrique, Hôpital Armand Trousseau, Assistance Publique Hôpitaux de Paris, Centre national de référence des maladies respiratoires rares RespiRare, Paris 75012, France; Inserm UMRS933, Université Pierre et Marie Curie (Paris 6), Sorbonne Universités, Paris 75012, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.biocel.2016.11.003DOI Listing
December 2016

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Biomarkers in Interstitial lung diseases.

Paediatr Respir Rev 2015 Sep 12;16(4):219-24. Epub 2015 May 12.

Assistance Publique-Hopitaux de Paris (AP-HP), Hôpital Trousseau, Service de pneumologie pédiatrique; Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Paris06; Institut National de la Santé et de la Recherche Médicale (INSERM), UMR_S 933; Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Paris06. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.prrv.2015.05.002DOI Listing
September 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.

View Article

Download full-text PDF

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

Proteomic analysis of nasal epithelial cells from cystic fibrosis patients.

PLoS One 2014 30;9(9):e108671. Epub 2014 Sep 30.

Unité_1151, Institut National de la Santé et de la Recherche Médicale, Université Paris Descartes, Paris, France; Plateau Proteome Necker, Structure Fédérative de Recherche de Necker, Université Paris Descartes, Paris, France.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0108671PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4182543PMC
June 2015

Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel.

Pediatr Neurol 2014 Apr 7;50(4):421-6. Epub 2014 Jan 7.

Institute of Human Genetics, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2014.01.006DOI Listing
April 2014

Characterization of SLC26A9 in patients with CF-like lung disease.

Hum Mutat 2013 Oct 13;34(10):1404-14. Epub 2013 Aug 13.

INSERM U 845, Paris, France; Faculté de Médecine, Université René Descartes, Paris V, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22382DOI Listing
October 2013

Alveolar epithelial cells: master regulators of lung homeostasis.

Int J Biochem Cell Biol 2013 Nov 27;45(11):2568-73. Epub 2013 Aug 27.

Inserm, UMR S-938, F-75012 Paris, France; UPMC Univ Paris 06, F-75005 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.biocel.2013.08.009DOI Listing
November 2013

How should we approach classification of autoinflammatory diseases?

Nat Rev Rheumatol 2013 Oct 9;9(10):624-9. Epub 2013 Jul 9.

French Reference Centre for Amyloidosis of Inflammatory Origin and Familial Mediterranean Fever, Hôpital Tenon, Assistance Publique-Hôpitaux de Paris (AP-HP), 4 rue de la Chine, Paris, F-75020 France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nrrheum.2013.101DOI Listing
October 2013

Evidence-based recommendations for the practical management of Familial Mediterranean Fever.

Semin Arthritis Rheum 2013 Dec 3;43(3):387-91. Epub 2013 Jun 3.

Centre national de Référence des maladies Auto-Inflammatoires, CeRéMAI, Centre Hospitalier de Versailles, 177, rue de Versailles, 78150 Le Chesnay Cedex, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.semarthrit.2013.04.011DOI Listing
December 2013

Primary ciliary dyskinesia presentation in 60 children according to ciliary ultrastructure.

Eur J Pediatr 2013 Aug 10;172(8):1053-60. Epub 2013 Apr 10.

Centre de reference des maladies respiratoires rares, Service de pneumologie pediatrique, Hopital Armand-Trousseau and INSERM UMR S-938, AP-HP, 75571 Paris Cedex 12, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-013-1996-5DOI Listing
August 2013

The role of GHR and IGF1 genes in the genetic determination of African pygmies' short stature.

Eur J Hum Genet 2013 Jun 10;21(6):653-8. Epub 2012 Oct 10.

CNRS-MNHN-Université Paris 7, UMR 7206 Ecoanthropology and Ethnobiology, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2012.223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658195PMC
June 2013

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

Ciliary defects and genetics of primary ciliary dyskinesia.

Paediatr Respir Rev 2009 Jun 18;10(2):51-4. Epub 2009 Apr 18.

AP-HP, Service de Génétique et d'Embryologie médicales and Inserm U.933, Hôpital Armand-Trousseau, 26, avenue du Docteur Arnold-Netter, 75571 Paris Cedex 13, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.prrv.2009.02.001DOI Listing
June 2009

Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene.

Mol Med 2008 May-Jun;14(5-6):286-92

Laboratoire de Génétique et de Physiologie Neuroendocrinienne, Equipe des Bases Moléculaires de Maladies Génétiques, UFR de Génétique et Biologie Moléculaire, Université Ibn Tofaïl, Faculté des Sciences, Kenitra, Maroc.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2119/2007-00128.HilalDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2249753PMC
August 2008

Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities.

J Clin Endocrinol Metab 2006 Nov 29;91(11):4528-36. Epub 2006 Aug 29.

Institut National de la Santé et de la Recherche Médicale, U654, Hôpital Henri-Mondor, Créteil F-94010, France.

View Article

Download full-text PDF

Source
https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
Publisher Site
http://dx.doi.org/10.1210/jc.2006-0426DOI Listing
November 2006

Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects.

J Clin Endocrinol Metab 2005 Sep 5;90(9):5456-62. Epub 2005 Jul 5.

Institut National de la Santé et de la Recherche Médicale, Unité 654, Hôpital Henri Mondor, 94010 Créteil, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2004-2332DOI Listing
September 2005

Amyloidosis and auto-inflammatory syndromes.

Curr Drug Targets Inflamm Allergy 2005 Feb;4(1):57-65

Service de médecine interne, L'Hôtel-Dieu, Assistance publique-hôpitaux de Paris, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2174/1568010053622786DOI Listing
February 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.

View Article

Download full-text PDF

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

The tumor necrosis factor alpha-dependent activation of the human mediterranean fever (MEFV) promoter is mediated by a synergistic interaction between C/EBP beta and NF kappaB p65.

J Biol Chem 2003 Dec 26;278(49):48839-47. Epub 2003 Sep 26.

INSERM, Unit 468 and Unit 581, Hôpital Henri-Mondor, 51, Avenue du Maréchal de-Lattre-de-Tassigny, 94010 Créteil, France.

View Article

Download full-text PDF

Source
http://www.jbc.org/lookup/doi/10.1074/jbc.M305166200
Publisher Site
http://dx.doi.org/10.1074/jbc.M305166200DOI Listing
December 2003