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A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome
Adi Mory
,
Efrat Dagan
,
Barbara Illi
,
Philippe Duquesnoy
,
Shikma Mordechai
,
et al.
Journal articles
inserm-03889523v1
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Human group X secreted phospholipase A2 induces dendritic cell maturation through lipoprotein-dependent and -independent mechanisms.
Rajai Atout
,
Sonia-Athina Karabina
,
Sandra Dollet
,
Martine Carreras
,
Christine Payré
,
et al.
Journal articles
hal-00731327v1
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How should we approach classification of autoinflammatory diseases?
Gilles Grateau
,
Véronique Hentgen
,
Katia Stankovic Stojanovic
,
Isabelle Jéru
,
Serge Amselem
,
et al.
Journal articles
inserm-03888413v1
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Hormonal contraception in women at risk of vascular and metabolic disorders: guidelines of the French Society of Endocrinology.
Pierre Gourdy
,
Anne Bachelot
,
Sophie Catteau-Jonard
,
Nathalie Chabbert-Buffet
,
Sophie Christin-Maître
,
et al.
Journal articles
hal-00932019v1
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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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Clinical characteristics and outcome of acromegaly induced by ectopic secretion of growth hormone-releasing hormone (GHRH): a French nationwide series of 21 cases.
Laetitia Garby
,
Philippe Caron
,
Francine Claustrat
,
Philippe Chanson
,
Antoine Tabarin
,
et al.
Journal articles
hal-01006500v1
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Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children
Florence Flamein
,
Laure Riffault
,
Céline Muselet-Charlier
,
Julie Pernelle
,
Delphine Feldmann
,
et al.
Journal articles
hal-03829404v1
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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
,
Myriam Georges
,
Philippe Duquesnoy
,
Alain Froment
,
et al.
Journal articles
hal-02271435v1
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Characterization of SLC26A9 in Patients with CF-Like Lung Disease
Naziha Bakouh
,
Thierry Bienvenu
,
Annick Thomas
,
Jordi Ehrenfeld
,
Huguette Liote
,
et al.
Journal articles
inserm-03885353v1
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Alveolar epithelial cells: Master regulators of lung homeostasis
Loïc Guillot
,
Nadia Nathan
,
Olivier Tabary
,
Guillaume Thouvenin
,
Philippe Le Rouzic
,
et al.
Journal articles
hal-03829388v1
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Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
Sylvain Blanchon
,
Marie Legendre
,
Bruno Copin
,
Philippe Duquesnoy
,
Guy Montantin
,
et al.
Journal articles
istex
inserm-03888840v1
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Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities
C. Perez
,
Florence Dastot-Le Moal
,
N. Collot
,
M. Legendre
,
I. Abadie
,
et al.
Journal articles
inserm-03888901v1
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Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia
Esther Kott
,
Philippe Duquesnoy
,
Bruno Copin
,
Marie Legendre
,
Florence Dastot-Le Moal
,
et al.
Journal articles
inserm-03888655v1
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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
,
et al.
Journal articles
inserm-03888454v1
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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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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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Symptomatic Heterozygotes and Prenatal Diagnoses in a Nonconsanguineous Family with Syndromic Combined Pituitary Hormone Deficiency Resulting from Two Novel LHX3 Mutations
Marie-Laure Sobrier
,
Cécile Brachet
,
Marie-Pierre Vié-Luton
,
Christelle Perez
,
Bruno Copin
,
et al.
Journal articles
inserm-03889540v1
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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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Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies
Andrée Delahaye
,
Pierre Bitoun
,
Séverine Drunat
,
Marion Gérard-Blanluet
,
Nicolas Chassaing
,
et al.
Journal articles
inserm-03889622v1
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Role of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy
Isabelle Jéru
,
Véronique Hentgen
,
Sylvain Normand
,
Philippe Duquesnoy
,
Emmanuelle Cochet
,
et al.
Journal articles
inserm-03894153v1
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Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes
Isabelle Jéru
,
Gaëlle Le Borgne
,
Emmanuelle Cochet
,
Hasmik Hayrapetyan
,
Philippe Duquesnoy
,
et al.
Journal articles
inserm-03889764v1
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A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood
Yardena Tenenbaum-Rakover
,
Marie-Laure Sobrier
,
Serge Amselem
Journal articles
istex
inserm-03894099v1
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CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
Anne-Christine Merveille
,
Erica Davis
,
Anita Becker-Heck
,
Marie Legendre
,
Israel Amirav
,
et al.
Journal articles
inserm-03894583v1
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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
,
et al.
Journal articles
inserm-03887971v1
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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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A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice
Catherine Costa
,
Virginie Prulière-Escabasse
,
Alix de Becdelièvre
,
Christine Gameiro
,
Lisa Golmard
,
et al.
Journal articles
hal-02446238v1
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