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The role of GHR and IGF1 genes in the genetic determination of African pygmies’ short stature
Noémie Sa Becker
,
Paul Verdu
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Myriam Georges
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Philippe Duquesnoy
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Alain Froment
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Journal articles
hal-02271435v1
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Characterization of SLC26A9 in Patients with CF-Like Lung Disease
Naziha Bakouh
,
Thierry Bienvenu
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Annick Thomas
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Jordi Ehrenfeld
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Huguette Liote
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Journal articles
inserm-03885353v1
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RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes
Ludovic Jeanson
,
Bruno Copin
,
Jean-François Papon
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Florence Dastot-Le Moal
,
Philippe Duquesnoy
,
et al.
Journal articles
hal-03829114v1
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Induction of dendritic cell-mediated T-cell activation by modified but not native low-density lipoprotein in humans and inhibition by annexin a5: involvement of heat shock proteins
Anquan Liu
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Julia Yue Ming
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Roland Fiskesund
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Ewa Ninio
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Sonia-Athina Karabina
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et al.
Journal articles
inserm-03919023v1
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How should we approach classification of autoinflammatory diseases?
Gilles Grateau
,
Véronique Hentgen
,
Katia Stankovic Stojanovic
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Isabelle Jéru
,
Serge Amselem
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et al.
Journal articles
inserm-03888413v1
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Primary ciliary dyskinesia presentation in 60 children according to ciliary ultrastructure
Christelle Vallet
,
Estelle Escudier
,
Françoise Roudot-Thoraval
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Sylvain Blanchon
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Brigitte Fauroux
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et al.
Journal articles
istex
inserm-03888563v1
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Ostéopathies fragilisantes, maladie rénale chronique, malabsorptions, anomalies biologiques du métabolisme phosphocalcique : les bonnes indications pour un remboursement raisonné du dosage de vitamine D
Jean-Claude Souberbielle
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Claude-Laurent Benhamou
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Bernard Cortet
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Mickael Rousière
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Christian Roux
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et al.
Journal articles
hal-01225515v1
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Pathophysiology of hereditary recurrent fever syndromes: cellular and molecular approaches
Fawaz Awad
Human genetics. Université Pierre et Marie Curie, 2014. English. ⟨NNT : ⟩
Theses
tel-03934824v1
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Kohlschutter-Tonz Syndrome: Clinical and Genetic Insights Gained From 16 Cases Deriving From a Close-Knit Village in Northern Israel
Adi Mory
,
Efrat Dagan
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Ishai Shahor
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Hanna Mandel
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Barbara Illi
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et al.
Journal articles
inserm-03885276v1
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Alveolar epithelial cells: Master regulators of lung homeostasis
Loïc Guillot
,
Nadia Nathan
,
Olivier Tabary
,
Guillaume Thouvenin
,
Philippe Le Rouzic
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et al.
Journal articles
hal-03829388v1
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Evidence-based recommendations for the practical management of Familial Mediterranean Fever
Véronique Hentgen
,
Gilles Grateau
,
Isabelle Kone-Paut
,
Avi Livneh
,
Shai Padeh
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et al.
Journal articles
inserm-03888454v1
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Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey
Claire Bouvattier
,
Laure Esterle
,
Peggy Renoult-Pierre
,
Aude Brac de La Perrière
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Frédéric Illouz
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Journal articles
hal-02025462v1
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p.Ala541Thr variant of MEN1 gene: A non deleterious polymorphism or a pathogenic mutation?
Cecile Nozières
,
Chang-Xian Zhang
,
Alexandre Buffet
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Stéphanie Dupasquier
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Rosa Vargas-Poussou
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et al.
Journal articles
hal-03276624v1
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Biomarkers in Interstitial lung diseases
Nadia Nathan
,
Harriet Corvol
,
Serge Amselem
,
Annick Clement
Journal articles
hal-03829116v1
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Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects
Esther Kott
,
Marie Legendre
,
Bruno Copin
,
Jean-François Papon
,
Florence Dastot-Le Moal
,
et al.
Journal articles
inserm-03887837v1
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The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency
Cecilia Lazea
,
Paula Grigorescu-Sido
,
Radu Popp
,
Marie Legendre
,
Serge Amselem
,
et al.
Journal articles
hal-03884701v1
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Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia.
Thassadite Dirami
,
Baptiste Rode
,
Mathilde Jollivet
,
Nathalie da Silva
,
Denise Escalier
,
et al.
Journal articles
hal-00990664v1
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Familial Mediterranean Fever in Heterozygotes: Are We Able to Accurately Diagnose the Disease in Very Young Children?
Véronique Hentgen
,
Gilles Grateau
,
Katia Stankovic-Stojanovic
,
Serge Amselem
,
Isabelle Jéru
Journal articles
inserm-03888616v1
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ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6
Maimoona A. Zariwala
,
Heon Yung Gee
,
Małgorzata Kurkowiak
,
Dalal A. Al-Mutairi
,
Margaret W. Leigh
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et al.
Journal articles
inserm-03887971v1
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Evaluation of sperm nuclear integrity in patients with different percentages of decapitated sperm in ejaculates
Christine Rondanino
,
V Duchesne
,
D Escalier
,
F Jumeau
,
F Verhaeghe
,
et al.
Journal articles
hal-01918679v1
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CFTR dysfunction induces vascular endothelial growth factor synthesis in airway epithelium
Clémence Martin
,
Nathalie Coolen
,
Yongzheng Wu
,
Guiti Thévenot
,
Lhousseine Touqui
,
et al.
Journal articles
pasteur-02863041v1
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Brief Report: Involvement of TNFRSF11A Molecular Defects in Autoinflammatory Disorders
Isabelle Jéru
,
Emmanuelle Cochet
,
Philippe Duquesnoy
,
Véronique Hentgen
,
Bruno Copin
,
et al.
Journal articles
inserm-03884901v1
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Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism
Nabila Fritez
,
Marie-Laure Sobrier
,
Hinde Iraqi
,
Marie-Pierre Vié-Luton
,
Irène Netchine
,
et al.
Journal articles
istex
hal-03884719v1
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