Genome-Wide Linkage in a Highly Consanguineous Pedigree Reveals Two Novel Loci on Chromosome 7 for Non-Syndromic Familial Premature Ovarian Failure
Sandrine Caburet
,
Petra Zavadakova
,
Ziva Ben-Neriah
,
Kamal Bouhali
,
Aurélie Dipietromaria
,
et al.
Journal articles
hal-02135887v1
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Gonad differentiation toward ovary
Sophie Lamothe
,
Valérie Bernard
,
Sophie Christin-Maitre
Journal articles
hal-03490495v1
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Monogenic forms of lipodystrophic syndromes - diagnosis, detection, and practical management considerations from clinical cases
Camille Vatier
,
Marie-Christine Vantyghem
,
Caroline Storey
,
Isabelle Jéru
,
Sophie Christin-Maitre
,
et al.
Journal articles
hal-02272036v1
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MANAGEMENT OF ENDOCRINE DISEASE: Transition of care for young adult patients with Turner syndrome
Valérie Bernard
,
Bruno Donadille
,
Tiphaine Le Poulennec
,
Mariana Nedelcu
,
Laetitia Martinerie
,
et al.
Journal articles
hal-02948831v1
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Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice
Héléna Mosbah
,
Camille Vatier
,
Franck Boccara
,
Isabelle Jéru
,
Olivier Lascols
,
et al.
Journal articles
hal-02586223v1
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How can we make pregnancy safe for women with Turner syndrome?
Bruno Donadille
,
Valérie Bernard
,
Sophie Christin-Maitre
American Journal of Medical Genetics Part C: Seminars in Medical Genetics , 2019, Proceedings of the Turner Syndrome Resource Network Symposium, 181 (1), pp.34-41.
⟨10.1002/ajmg.c.31682⟩
Journal articles
hal-02180018v1
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Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients
Lucas Bouys
,
Anna Vaczlavik
,
Anne Jouinot
,
Patricia Vaduva
,
Stéphanie Espiard
,
et al.
Journal articles
hal-03982784v1
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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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Next Generation Sequencing Should Be Proposed to Every Woman With “Idiopathic” Primary Ovarian Insufficiency
Sarah Eskenazi
,
Anne Bachelot
,
Justine Hugon-Rodin
,
Genevieve Plu-Bureau
,
Anne Gompel
,
et al.
Journal articles
inserm-04006159v1
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Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit
Bruno Donadille
,
Muriel Houang
,
Irène Netchine
,
Jean-Pierre Siffroi
,
Sophie Christin-Maitre
Journal articles
inserm-03867576v1
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Pregnancies and Turner syndrome
Sophie Christin-Maitre
13th Congress of the European Society of Gynecology (ESG) , Oct 2019, Vienna (Austria), Austria
Conference papers
inserm-04155615v1
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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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Familial Multiplicity of Estrogen Insensitivity Associated with a Loss-of-Function ESR1 Mutation
Valérie Bernard
,
Sakina Kherra
,
Bruno Francou
,
Jérôme Fagart
,
Say Viengchareun
,
et al.
Journal articles
inserm-04006530v1
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Hormones and fertility
Agnès Linglart
,
Sophie Christin-Maitre
,
Dominique Maiter
,
Philippe Touraine
Journal articles
inserm-04041544v1
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Role of 68Ga-DOTATOC PET/CT in Insulinoma According to 3 Different Contexts: A Retrospective Study
Pierre-Louis Moreau
,
Cyrielle Aveline
,
Sophie Christin-Maitre
,
Philippe Chanson
,
Olivier Dubreuil
,
et al.
Journal articles
inserm-04041605v1
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Pituitary MRI Features in Acromegaly Resulting From Ectopic GHRH Secretion From a Neuroendocrine Tumor: Analysis of 30 Cases
Iulia Potorac
,
Jean-François Bonneville
,
Adrian F Daly
,
Wouter de Herder
,
Patricia Fainstein-Day
,
et al.
Journal articles
inserm-04042292v1
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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
,
Claude-Laurent Benhamou
,
Bernard Cortet
,
Mickael Rousière
,
Christian Roux
,
et al.
Journal articles
hal-01225515v1
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Pituitary adenoma in patients with multiple endocrine neoplasia type 1: a cohort study
Maelle Le Bras
,
Hélène Leclerc
,
Olivia Rousseau
,
Pierre Goudet
,
Thomas Cuny
,
et al.
Journal articles
inserm-04042690v1
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Multiple endocrine neoplasia type 1 or 4: detection of hyperfunctioning parathyroid glands with 18F-fluorocholine PET/CT. Illustrative cases and pitfalls
Jean-Noël Talbot
,
Jules Zhang-Yin
,
Khadoun Kerrou
,
Cyrielle Aveline
,
Benedicte Vagne
,
et al.
Journal articles
inserm-04042413v1
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Infertility in an adult cohort with primary ciliary dyskinesia: phenotype–gene association
Gert Jan Vanaken
,
Laurence Bassinet
,
Mieke Boon
,
Rahma Mani
,
Isabelle Honoré
,
et al.
Journal articles
inserm-03837666v1
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Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome
Valérie Bernard
,
Bruno Donadille
,
Delphine Zenaty
,
Carine Courtillot
,
Sylvie Salenave
,
et al.
Journal articles
hal-01473964v1
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Severe Congenital Adrenal Hyperplasia Presenting as Bilateral Testicular Tumors and Azoospermia in the Third Decade of Life
Julie Sarfati
,
Camille Vatier
,
Isabelle Keller
,
Jérome Guéchot
,
Christine Bellanné-Chantelot
,
et al.
Journal articles
hal-03982827v1
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Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome.
Bruno Donadille
,
Pascal d'Anella
,
Martine Auclair
,
Nancy Uhrhammer
,
Marc Sorel
,
et al.
Journal articles
inserm-00847200v1
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Unravelling a case of 46,XY DSD due to 17ß-Hydroxysteroid Dehydrogenase type 3 mutations at the age of 49
Aubin Garcia
,
Marie Legendre
,
Sandra Chantot-Bastaraud
,
Jean Pierre Siffroi
,
Sophie Christin-Maitre
Journal articles
inserm-03798449v1
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Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome)
Sophie Christin-Maitre
,
Maria Givony
,
Frédérique Albarel
,
Anne Bachelot
,
Maud Bidet
,
et al.
Journal articles
inserm-03856183v1
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Added value of buccal cell FISH analysis in the diagnosis and management of Turner syndrome
A Graff
,
B Donadille
,
H Morel
,
M Villy
,
N Bourcigaux
,
et al.
Journal articles
inserm-03857359v1
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Role of testosterone on spermatogenesis
Sophie Christin-Maitre
Journées Internationales d'Endocrinologie Clinique Henri-Pierre Klotz , Jun 2022, Paris, France
Conference papers
inserm-04121076v1
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Adrenal ganglioneuromas: a retrospective multicentric study of 104 cases from the COMETE network
Elisa Deflorenne
,
Michel Peuchmaur
,
Delphine Vezzosi
,
Christiane Ajzenberg
,
Laurent Brunaud
,
et al.
Journal articles
inserm-04042575v1
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Pregnancy outcomes following pulsatile GnRH treatment: results of a large multicenterretrospective study
Sophie Christin-Maitre
European master class on hypogonadotropic hypogonadism , Jun 2018, Amsterdam, Netherlands
Conference papers
inserm-04125559v1
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Reply of the Authors: Genetics of primary ovarian insufficiency: a careful step-by-step approach based on solid foundations to bring new knowledge
Sophie Christin-Maitre
,
Jean-Pierre Siffroi
Journal articles
inserm-03855779v1
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