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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
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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 articles
hal-02290898v1
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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.
Journal articles
hal-03790543v1
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Genetic causes of combined pituitary hormone deficiencies in humans.
Frederic Castinetti
,
Rachel Reynaud
,
Alexandru Saveanu
,
Anne A. Barlier
,
Thierry Brue
Journal articles
hal-00701542v1
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Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations
Sarah Castets
,
Florence Roucher-Boulez
,
Alexandru Saveanu
,
Delphine Mallet-Motak
,
Olivier Chabre
,
et al.
Journal articles
hal-03223181v1
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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
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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
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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.
Journal articles
hal-01444022v1
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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.
Journal articles
hal-02468517v1
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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.
Journal articles
hal-03965100v1
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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 articles
hal-01623032v1
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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
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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
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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
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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
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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
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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
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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.
Journal articles
inserm-04031866v1
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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
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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
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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 articles
hal-01775020v1
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SFE/SFEDP adrenal insufficiency French consensus: Introduction and handbook
Yves Reznik
,
Pascal Barat
,
Jérôme Bertherat
,
Claire Bouvattier
,
Frederic Castinetti
,
et al.
Journal articles
hal-01724190v1
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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.
Journal articles
hal-04034050v1
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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.
Journal articles
hal-00625444v1
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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.
Journal articles
hal-02616910v1
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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
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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
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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
|
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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.
Journal articles
hal-01903170v1
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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
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