Search - Aix-Marseille Université Access content directly

Filter your results

47 Results
Author: personID (integer) : 1238414

Génétique des hypopituitarismes antérieurs.

Rachel Reynaud , Anne A. Barlier , Alexandru Saveanu , M.H. Quentien , A. Enjalbert , et al.
Annales d'Endocrinologie, 2005, 66, pp.250-257
Journal articles hal-00017717v1

Family History is Underestimated in Children with Isolated Hypospadias: A French Multicenter Report of 88 Families

Margot Ollivier , Francoise Paris , Pascal Philibert , Sarah Garnier , Amandine Coffy , et al.
Journal of Urology, 2018, 200 (4), pp.890-894. ⟨10.1016/j.juro.2018.04.072⟩
Journal articles hal-02290898v1
Image document

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine

Abdelkader Heddar , Cagri Ogur , Sabrina da Costa , Inès Braham , Line Billaud-Rist , et al.
EBioMedicine, 2022, 84, pp.104246. ⟨10.1016/j.ebiom.2022.104246⟩
Journal articles hal-03790543v1

Genetic causes of combined pituitary hormone deficiencies in humans.

Frederic Castinetti , Rachel Reynaud , Alexandru Saveanu , Anne A. Barlier , Thierry Brue
Annales d'Endocrinologie, 2012, 73 (2), pp.53-5. ⟨10.1016/j.ando.2012.03.025⟩
Journal articles hal-00701542v1
Image document

Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations

Sarah Castets , Florence Roucher-Boulez , Alexandru Saveanu , Delphine Mallet-Motak , Olivier Chabre , et al.
Hormone Research in Paediatrics, 2020, 93 (1), pp.30-39. ⟨10.1159/000507249⟩
Journal articles hal-03223181v1

Novel mutations within the POU1F1 gene associated with variable Combined Pituitary Hormone Deficiency (CPHD).

J.P. Turton , Rachel Reynaud , A. Mehta , J. Torpiano , Alexandru Saveanu , et al.
Journal of Clinical Endocrinology and Metabolism, 2005, 90, pp.4762-4770
Journal articles hal-00017738v1

Intérêt du diagnostic génétique des déficits hypophysaires combinés sur une série de 197 patients

Rachel Reynaud , M. Gueydan , S. Vallette-Kasic , A. Enjalbert , Thierry Brue , et al.
Société Française d'Endocrinologie, 2005, Strasbourg, France
Conference papers hal-00017785v1

Successful IVF pregnancy despite inadequate ovarian steroidogenesis due to congenital lipoid adrenal hyperplasia (CLAH): a case report

Frédérique Albarel , Jeanne Perrin , Margaux Jegaden , Florence Roucher-Boulez , Rachel Reynaud , et al.
Human Reproduction, 2016, 31 (11), pp.2609--2612. ⟨10.1093/humrep/dew239⟩
Journal articles hal-01444022v1

Fertility preservation in Turner syndrome: Karyotype does not predict ovarian response to stimulation

Julia Vergier , Pauline Bottin , Jacqueline Saias , Rachel Reynaud , Catherine Guillemain , et al.
Clinical Endocrinology, 2019, 91 (5), pp.646-651. ⟨10.1111/cen.14076⟩
Journal articles hal-02468517v1

Educational needs and type 1 diabetes mellitus: The voices of adolescents, parents and caregivers

Sandrine Mayen , Marie-Claude Lagouanelle-Simeoni , José Cote , David Fonte , Rachel Reynaud , et al.
Health Education Journal, 2022, 81 (2), pp.226-237. ⟨10.1177/00178969211062477⟩
Journal articles hal-03965100v1
Image document

Representations and experiences of well-being among diabetic adolescents: Relational, normative, and identity tensions in diabetes self-management

David Fonte , Sébastien Colson , José Côté , Rachel Reynaud , Marie Claude Lagouanelle-Simeoni , et al.
Journal of Health Psychology, 2016, ⟨10.1177/1359105317712575⟩
Journal articles hal-01623032v1

LHX4 dans le syndrome d'interruption de la tige pituitaire : expérience du réseau GENOHYPOPIT.

N. Kaffel , Rachel Reynaud , Alexandru Saveanu , Gilles Simonin , R. Brauner , et al.
24ème Congrès de la Société Française d'Endocrinologie, 2006, MONTEPLLIER, France
Conference papers hal-00089045v1

RAPID DIFFERENTIAL DIAGNOSIS OF POLYURIA-POLYDIPSIA SYNDROME IN CHILDREN: THE COPEPTIN APPROACH. A CASE REPORT

Julia, Jr Vergier , Julien Fromonot , Alix Alvares de Azevedo Macedo , Alice Godefroy , Emeline Marquant , et al.
Hormone Research in Paediatrics, 2017
Journal articles hal-01799890v1
Image document

Clinical, radiological, and molecular diagnosis of congenital pituitary diseases causing short stature

S. Castets , C. Villanueva , J. Vergier , Thierry Brue , Alexandru Saveanu , et al.
ARCHIVES DE PEDIATRIE, 2022, 28 (8, 1)
Journal articles hal-03780225v1

An uncommon phenotype with familial central hypogonadism caused by a novel PROP-1 gene mutant truncated in the transactivation domain.

Rachel Reynaud , Anne A. Barlier , S. Vallette-Kasic , Alexandru Saveanu , M.P. Guillet , et al.
Journal of Clinical Endocrinology and Metabolism, 2005, 90, pp.4880-4887
Journal articles hal-00017716v1

Activin inhibits the human Pit-1 gene promoter through the p38 kinase pathway in a Smad-independent manner.

C. de Guise , A. Lacerte , S. Rafiei , Rachel Reynaud , M. Roy , et al.
Endocrinology, 2006, sous presse, sous presse
Journal articles hal-00088996v1

Les mutations Sox3 ne sont pas une cause fréquente d'insuffisance antéhypophysaire congénitale.

G. Raverot , M. Leone , Rachel Reynaud , A. Bridier , A. Sinilnikova , et al.
Société Française d'Endocrinologie, 2006, MONTPELLIER, France
Conference papers hal-00089056v1
Image document

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

Elodie Fiot , Bertille Alauze , Bruno Donadille , Dinane Samara-Boustani , Muriel Houang , et al.
Orphanet Journal of Rare Diseases, 2022, 17 (S1), pp.261. ⟨10.1186/s13023-022-02423-5⟩
Journal articles inserm-04031866v1

Intérêt du diagnostic génétique des déficits hypophysaires combinés sur une série de 197 patients.

Rachel Reynaud , Anne A. Barlier , A. Enjalbert , Thierry Brue
Congrès de la Société Française de Pédiatrie, 2006, LYON, France
Conference papers hal-00089031v1

Conduite à tenir diagnostique devant un déficit hypophysaire combiné congénital : quel gène pour quel tableau clinique ?

Anne A. Barlier , Rachel Reynaud , Alexandru Saveanu , A. Enjalbert , Thierry Brue
Médecine Thérapeutique en Endocrinologie, Médecine Thérapeutique en Endocrinologie, sous presse, 2007
Book sections hal-00141394v1

Deficit in Anterior Pituitary Function and Variable Immune Deficiency (DAVID) in Children Presenting with Adrenocorticotropin Deficiency and Severe Infections

Marie-Helene Quentien , Brigitte Delemer , Dimitris Papadimitriou , Pierre-François Souchon , Roland Jaussaud , et al.
Journal of Clinical Endocrinology and Metabolism, 2012, 97 (1), pp.E121 - E128. ⟨10.1210/jc.2011-0407⟩
Journal articles hal-01775020v1
Image document

SFE/SFEDP adrenal insufficiency French consensus: Introduction and handbook

Yves Reznik , Pascal Barat , Jérôme Bertherat , Claire Bouvattier , Frederic Castinetti , et al.
Annales d'Endocrinologie, 2018, 79 (1), pp.1 - 22. ⟨10.1016/j.ando.2017.12.001⟩
Journal articles hal-01724190v1
Image document

Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family

Rachel Fourneaux , Sarah Castets , Alice Godefroy , Maude Grelet , Juliette Abeillon-Du Payrat , et al.
Hormone Research in Paediatrics, 2022, 95 (3), pp.296-303. ⟨10.1159/000524233⟩
Journal articles hal-04034050v1

Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms

Rachel Reynaud , F. Albarel , Alexandru Saveanu , N. Kaffel , Frederic Castinetti , et al.
European Journal of Endocrinology, 2011, 164 (4), pp.457-65. ⟨10.1530/EJE-10-0892⟩
Journal articles hal-00625444v1

Serum GH concentration must now be expressed in mass units in France like in the rest of the world

Philippe Chanson , Rachel Reynaud , Régis Coutant , Agnès Linglart , Marc Nicolino , et al.
Annales de Biologie Clinique, 2018, 76 (2), pp.133-134. ⟨10.1684/abc.2018.1322⟩
Journal articles hal-02616910v1

Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.

I. Miyata , Alexandru Saveanu , S. Valette-Kasic , M. Takeuchi , H. Yoshikawa , et al.
Journal of Clinical Endocrinology and Metabolism, 2006, 91, pp.4981-4987
Journal articles hal-00141352v1

Genetic screening of combined pituitary hormone deficiency : experience in 195 patients

Rachel Reynaud , M. Gueydan , Alexandru Saveanu , S. Valette-Kasic , A. Enjalbert , et al.
Journal of Clinical Endocrinology and Metabolism, 2006, sous presse, sous presse
Journal articles hal-00088999v1

Genetic screening in 195 patients with combined pituitary hormone deficiency : experience of the GENHYPOPIT Network.

Rachel Reynaud , M. Gueydan , S. Valette-Kasic , A. Enjalbert , Anne A. Barlier , et al.
Congress of American Endocrine Society, 2006, BOSTON, United States
Conference papers hal-00089044v1
Image document

Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency

Nicolas Jullien , Mélanie Philippon , Marie-Hélène Quentien , Paolo Beck-Peccoz , Ignacio Bergada , et al.
European Journal of Human Genetics, 2019, 27 (2), pp.216-225. ⟨10.1038/s41431-018-0264-6⟩
Journal articles hal-01903170v1
Image document

Évolution du profil sociocognitif et clinique d'adolescents diabétiques de type 1 ayant suivi un programme d'éducation thérapeutique : une étude pilote

Sébastien Colson , David Fonte , José Coté , Murielle de Oliveira , Martine Samper , et al.
Éducation thérapeutique du patient / Therapeutic patient education , 2016
Journal articles hal-03825577v1