Search - Maladies génétiques d'expression pédiatrique Access content directly

Filter your results

26 Results
Deposit type : Notice

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.
American Journal of Human Genetics, 2012, 90 (4), pp.708-714. ⟨10.1016/j.ajhg.2012.03.005⟩
Journal articles inserm-03889523v1

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.
Atherosclerosis, 2012, 222 (2), pp.367-74. ⟨10.1016/j.atherosclerosis.2012.03.014⟩
Journal articles hal-00731327v1

How should we approach classification of autoinflammatory diseases?

Gilles Grateau , Véronique Hentgen , Katia Stankovic Stojanovic , Isabelle Jéru , Serge Amselem , et al.
Nature Reviews Rheumatology, 2013, 9 (10), pp.624-629. ⟨10.1038/nrrheum.2013.101⟩
Journal articles inserm-03888413v1

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.
Annales d'Endocrinologie, 2012, 73 (5), pp.469-87. ⟨10.1016/j.ando.2012.09.001⟩
Journal articles hal-00932019v1

Primary ciliary dyskinesia presentation in 60 children according to ciliary ultrastructure

Christelle Vallet , Estelle Escudier , Françoise Roudot-Thoraval , Sylvain Blanchon , Brigitte Fauroux , et al.
European Journal of Pediatrics, 2013, 172 (8), pp.1053-1060. ⟨10.1007/s00431-013-1996-5⟩
Journal articles istex inserm-03888563v1

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 of Clinical Endocrinology and Metabolism, 2012, 97 (6), pp.2093-104. ⟨10.1210/jc.2011-2930⟩
Journal articles hal-01006500v1

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.
Human Molecular Genetics, 2012, 21 (4), pp.765-775. ⟨10.1093/hmg/ddr508⟩
Journal articles hal-03829404v1

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.
European Journal of Human Genetics, 2013, 21 (6), pp.653-658. ⟨10.1038/ejhg.2012.223⟩
Journal articles hal-02271435v1

Characterization of SLC26A9 in Patients with CF-Like Lung Disease

Naziha Bakouh , Thierry Bienvenu , Annick Thomas , Jordi Ehrenfeld , Huguette Liote , et al.
Human Mutation, 2013, 34 (10), pp.1404-1414. ⟨10.1002/humu.22382⟩
Journal articles inserm-03885353v1

Alveolar epithelial cells: Master regulators of lung homeostasis

Loïc Guillot , Nadia Nathan , Olivier Tabary , Guillaume Thouvenin , Philippe Le Rouzic , et al.
International Journal of Biochemistry and Cell Biology, 2013, 45 (11), pp.2568-2573. ⟨10.1016/j.biocel.2013.08.009⟩
Journal articles hal-03829388v1

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 of Medical Genetics, 2012, 49 (6), pp.410-416. ⟨10.1136/jmedgenet-2012-100867⟩
Journal articles istex inserm-03888840v1

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.
European Journal of Endocrinology, 2012, 167 (1), pp.85-91. ⟨10.1530/EJE-12-0026⟩
Journal articles inserm-03888901v1

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.
American Journal of Human Genetics, 2012, 91 (5), pp.958-964. ⟨10.1016/j.ajhg.2012.10.003⟩
Journal articles inserm-03888655v1

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

Véronique Hentgen , Gilles Grateau , Isabelle Kone-Paut , Avi Livneh , Shai Padeh , et al.
Seminars in Arthritis and Rheumatism, 2013, 43 (3), pp.387-391. ⟨10.1016/j.semarthrit.2013.04.011⟩
Journal articles inserm-03888454v1

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.
American Journal of Human Genetics, 2013, 93 (3), pp.561-570. ⟨10.1016/j.ajhg.2013.07.013⟩
Journal articles inserm-03887837v1

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.
American Journal of Human Genetics, 2013, 92 (5), pp.760-6. ⟨10.1016/j.ajhg.2013.03.016⟩
Journal articles hal-00990664v1

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 of Clinical Endocrinology and Metabolism, 2012, 97 (3), pp.E503-E509. ⟨10.1210/jc.2011-2095⟩
Journal articles inserm-03889540v1

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
Arthritis & rheumatology, 2013, 65 (6), pp.1654-1662. ⟨10.1002/art.37935⟩
Journal articles inserm-03888616v1

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.
European Journal of Human Genetics, 2012, 20 (5), pp.527-533. ⟨10.1038/ejhg.2011.233⟩
Journal articles inserm-03889622v1

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.
Arthritis & rheumatology, 2011, 63 (7), pp.2142-2148. ⟨10.1002/art.30378⟩
Journal articles inserm-03894153v1

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.
Arthritis & rheumatology, 2011, 63 (5), pp.1459-1464. ⟨10.1002/art.30241⟩
Journal articles inserm-03889764v1

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
Clinical Endocrinology, 2011, 75 (2), pp.214-219. ⟨10.1111/j.1365-2265.2011.04028.x⟩
Journal articles istex inserm-03894099v1

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.
Nature Genetics, 2011, 43 (1), pp.72-78. ⟨10.1038/ng.726⟩
Journal articles inserm-03894583v1

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.
American Journal of Human Genetics, 2013, 93 (2), pp.336-345. ⟨10.1016/j.ajhg.2013.06.007⟩
Journal articles inserm-03887971v1

CFTR dysfunction induces vascular endothelial growth factor synthesis in airway epithelium

Clémence Martin , Nathalie Coolen , Yongzheng Wu , Guiti Thévenot , Lhousseine Touqui , et al.
European Respiratory Journal, 2013, 42 (6), pp.1553-1562. ⟨10.1183/09031936.00164212⟩
Journal articles pasteur-02863041v1

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 of Cystic Fibrosis, 2011, 10 (6), pp.479-482. ⟨10.1016/j.jcf.2011.06.011⟩
Journal articles hal-02446238v1