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authFullName_s : Sophie Christin-Maitre

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.
PLoS ONE, 2012, 7 (3), pp.e33412. ⟨10.1371/journal.pone.0033412⟩
Journal articles hal-02135887v1
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Gonad differentiation toward ovary

Sophie Lamothe , Valérie Bernard , Sophie Christin-Maitre
Annales d'Endocrinologie, 2020, 81, pp.83 - 88. ⟨10.1016/j.ando.2020.04.004⟩
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.
Current Medical Research and Opinion, 2019, 35 (3), pp.543-552. ⟨10.1080/03007995.2018.1533459⟩
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.
European Journal of Endocrinology, 2019, 180 (1), pp.R1-R7. ⟨10.1530/EJE-18-0238⟩
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.
Cells 2020, 2020, 9 (3), pp.765. ⟨10.3390/cells9030765⟩
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.
European Journal of Endocrinology, 2023, 187 (1), pp.123-134. ⟨10.1530/EJE-21-1032⟩
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.
Orphanet Journal of Rare Diseases, 2022, 17 (S1), pp.261. ⟨10.1186/s13023-022-02423-5⟩
Journal articles inserm-04031866v1

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 of the Endocrine Society, 2021, 5 (7), ⟨10.1210/jendso/bvab032⟩
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
Endocrine Connections, 2018, 7 (3), pp.395-402. ⟨10.1530/EC-17-0306⟩
Journal articles inserm-03867576v1

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

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

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 of Clinical Endocrinology and Metabolism, 2016, pp.jc.2016-2749. ⟨10.1210/jc.2016-2749⟩
Journal articles inserm-04006530v1
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Hormones and fertility

Agnès Linglart , Sophie Christin-Maitre , Dominique Maiter , Philippe Touraine
Annales d'Endocrinologie, 2022, 83 (3), pp.153 - 154. ⟨10.1016/j.ando.2022.05.004⟩
Journal articles inserm-04041544v1

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.
Clinical Nuclear Medicine, 2022, 47 (5), pp.394-401. ⟨10.1097/RLU.0000000000004126⟩
Journal articles inserm-04041605v1

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 of Clinical Endocrinology and Metabolism, 2023, 107 (8), pp.e3313 - e3320. ⟨10.1210/clinem/dgac274⟩
Journal articles inserm-04042292v1

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.
Annales de Biologie Clinique, 2014, 72 (4), pp.385-389. ⟨10.1684/abc.2014.0972⟩
Journal articles hal-01225515v1

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.
European Journal of Endocrinology, 2021, 185 (6), pp.863 - 873. ⟨10.1530/eje-21-0630⟩
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.
The quarterly journal of nuclear medicine and molecular imaging, 2022, 66 (2), pp.130-140. ⟨10.23736/S1824-4785.22.03440-9⟩
Journal articles inserm-04042413v1

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.
European Respiratory Journal, 2017, 50 (5), pp.1700314. ⟨10.1183/13993003.00314-2017⟩
Journal articles inserm-03837666v1

Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome

Valérie Bernard , Bruno Donadille , Delphine Zenaty , Carine Courtillot , Sylvie Salenave , et al.
Human Reproduction, 2016, 31 (4), pp.782-788. ⟨10.1093/humrep/dew012⟩
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 of the Endocrine Society, 2018, 2 (9), pp.997 - 1000. ⟨10.1210/js.2018-00103⟩
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.
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.106. ⟨10.1186/1750-1172-8-106⟩
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
Annales d'Endocrinologie, 2022, pp.S0003-4266(22)00005-1. ⟨10.1016/j.ando.2022.01.003⟩
Journal articles inserm-03798449v1

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.
Annales d'Endocrinologie, 2021, 82 (6), pp.555-571. ⟨10.1016/j.ando.2021.09.001⟩
Journal articles inserm-03856183v1

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.
Human Reproduction, 2020, 35 (10), pp.2391-2398. ⟨10.1093/humrep/deaa197⟩
Journal articles inserm-03857359v1

Role of testosterone on spermatogenesis

Sophie Christin-Maitre
Journées Internationales d'Endocrinologie Clinique Henri-Pierre Klotz, Jun 2022, Paris, France
Conference papers inserm-04121076v1

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.
European Journal of Endocrinology, 2023, 185 (4), pp.463 - 474. ⟨10.1530/eje-20-1049⟩
Journal articles inserm-04042575v1

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
Fertility and Sterility, 2022, 118 (2), pp.425. ⟨10.1016/j.fertnstert.2022.05.023⟩
Journal articles inserm-03855779v1