Sophie CHRISTIN-MAITRE

96
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Publications

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Revisiting GDF9 variants in primary ovarian insufficiency: A shift from dominant to recessive pathogenicity?

Pénélope Jordan , Camille Verebi , Bérénice Hervé , Sandrine Perol , Valérie Bernard et al.
Gene, 2024, 927, pp.148734. ⟨10.1016/j.gene.2024.148734⟩
Article dans une revue (data paper) inserm-04810864 v1
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Clinical practice guidelines for the care of girls and women with Turner syndrome

Claus Gravholt , Niels Andersen , Sophie Christin-Maitre , Shanlee Davis , Anthonie Duijnhouwer et al.
European Journal of Endocrinology, 2024, 190 (6), pp.G53-G151. ⟨10.1093/ejendo/lvae050⟩
Article dans une revue (data paper) inserm-04811169 v1
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Gonadotropic status in adult women with pituitary stalk interruption syndrome

A Terray , B Baussart , M Zins , M Goldberg , S Kab et al.
European Journal of Endocrinology, 2024, 190 (6), pp. 501-508. ⟨10.1093/ejendo/lvae064⟩
Article dans une revue hal-04609641 v1
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Epigenetic/circadian clocks and PCOS

Camille Vatier , Sophie Christin-Maitre
Human Reproduction, 2024, 39 (6), pp.1167-1175. ⟨10.1093/humrep/deae066⟩
Article dans une revue (article de synthèse) inserm-04811246 v1
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Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.

Penelope Jordan , Camille Verebi , Berenice Hervé , Sandrine Perol , Zeina Chakhtoura et al.
Clinical Genetics, 2024, Clinical Genetics, 106 (1), pp.102-108. ⟨10.1111/cge.14526⟩
Article dans une revue hal-04749744 v1
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Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center

Bruno Donadille , Sonja Janmaat , Héléna Mosbah , Inès Belalem , Sophie Lamothe et al.
Orphanet Journal of Rare Diseases, 2024, 19 (1), pp.177. ⟨10.1186/s13023-024-03173-2⟩
Article dans une revue inserm-04562484 v1
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Diagnosis and management of children and adult craniopharyngiomas: a French Endocrine Society/French Society for Paediatric Endocrinology & Diabetes Consensus Statement

Thomas Cuny , Rachel Reynaud , Gérald Raverot , Régis Coutant , Philippe Chanson et al.
Annales d'Endocrinologie = Annals of Endocrinology, 2024, ⟨10.1016/j.ando.2024.07.002⟩
Article dans une revue hal-04646201 v1
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Position statement on the diagnosis and management of congenital pituitary deficiency in adults: the French National Diagnosis and Treatment Protocol (NDTP)

Sarah Castets , Frédérique Albarel , Anne Bachelot , Gilles Brun , Jérôme Bouligand et al.
Annales d'Endocrinologie = Annals of Endocrinology, 2024, Annales d'Endocrinologie = Annals of Endocrinology, 85 (4), pp.327-339. ⟨10.1016/j.ando.2024.03.001⟩
Article dans une revue hal-04689015 v1

Prognostic Impact of Hypothalamic Perforation in Adult Patients With Craniopharyngioma: A Cohort Study

Stephan Gaillard , Sandro Benichi , Chiara Villa , Anne Jouinot , Camille Vatier et al.
Journal of Clinical Endocrinology and Metabolism, 2024, 109 (8), pp.2083-2096. ⟨10.1210/clinem/dgae049⟩
Article dans une revue (data paper) inserm-04811307 v1
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Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene

Juliette Quilichini , Sandrine Perol , Laurence Cuisset , Sarah Grotto , Corinne Fouveaut et al.
American Journal of Medical Genetics Part A, 2023, 194 (4), pp.e63479. ⟨10.1002/ajmg.a.63479⟩
Article dans une revue (data paper) inserm-04811409 v1

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⟩
Article dans une revue (data paper) inserm-04946634 v1

Pituitary surgery outcome in patients 75 years and older: a retrospective study

Marta Garvayo , Chiara Villa , Anne Jouinot , Mahmoud Messerer , Vincent Reina et al.
Acta Neurochirurgica, 2023, ⟨10.1007/s00701-023-05809-x⟩
Article dans une revue hal-04231474 v1
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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⟩
Article dans une revue hal-03982784 v1
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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 of Clinical Endocrinology and Metabolism, 2023, 107 (8), pp.e3313 - e3320. ⟨10.1210/clinem/dgac274⟩
Article dans une revue (data paper) inserm-04042292 v1

NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.

P. Jordan , C. Verebi , S. Perol , S. Grotto , C. Fouveaut et al.
Journal of Assisted Reproduction and Genetics, 2023, Journal of Assisted Reproduction and Genetics, 41, pp.135-146. ⟨10.1007/s10815-023-02981-y⟩
Article dans une revue hal-04700922 v1
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Androgenic steroid excess in women

Daphné Karila , Véronique Kerlan , Sophie Christin-Maitre
Annales d'Endocrinologie = Annals of Endocrinology, 2023, ⟨10.1016/j.ando.2023.11.001⟩
Article dans une revue (article de synthèse) hal-04493599 v1
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Aortic tissue analysis in Turner syndrome

Bruno Donadille , Alexander Valent , Kisaki Amemiya , Nicolas Rive Le Gouard , Laurence Iserin et al.
Journal of the American College of Cardiology, 2022, 80 (13), pp.1284-1285. ⟨10.1016/j.jacc.2022.07.017⟩
Article dans une revue hal-03855805 v1
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Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families

Alexandre Rouen , Eli Rogers , Veronique Kerlan , Brigitte Delemer , Sophie Catteau-Jonard et al.
Fertility and Sterility, 2022, 117 (4), pp.843-853. ⟨10.1016/j.fertnstert.2021.12.023⟩
Article dans une revue hal-03678844 v1
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Role of insulin resistance on fertility - focus on polycystic ovary syndrome

Camille Vatier , Sophie Christin-Maitre , Corinne Vigouroux
Annales d'Endocrinologie = Annals of Endocrinology, 2022, 83 (3), pp.199-202. ⟨10.1016/j.ando.2022.04.004⟩
Article dans une revue hal-03647762 v1
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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⟩
Article dans une revue inserm-04031866 v1
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Impact of intra-uterine life on future health

Léa Azoulay , Claire Bouvattier , Sophie Christin-Maitre
Annales d'Endocrinologie = Annals of Endocrinology, 2022, 83 (1), pp.54-58. ⟨10.1016/j.ando.2021.11.010⟩
Article dans une revue (article de synthèse) inserm-04005810 v1
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The association between macrovascular complications and intensive care admission, invasive mechanical ventilation, and mortality in people with diabetes hospitalized for coronavirus disease-2019 (COVID-19)

Gemma Llauradó , Bogdan Vlacho , Matthieu Wargny , Yue Ruan , Josep Franch-Nadal et al.
Cardiovascular Diabetology, 2022, 21 (1), pp.216. ⟨10.1186/s12933-022-01657-8⟩
Article dans une revue hal-03822575 v1
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Hormones and fertility

Agnès Linglart , Sophie Christin-Maitre , Dominique Maiter , Philippe Touraine
Annales d'Endocrinologie = Annals of Endocrinology, 2022, 83 (3), pp.153 - 154. ⟨10.1016/j.ando.2022.05.004⟩
Article dans une revue (article de synthèse) inserm-04041544 v1

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⟩
Article dans une revue (data paper) inserm-04041605 v1
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Une hyperandrogénie chez la femme ménopausée : origine ovarienne ou origine surrénalienne ?

J. Sarfati , M. Moraillon-Bougerolle , S. Christin-Maitre
Gynécologie Obstétrique Fertilité & Sénologie, 2022, 50 (10), pp.675 - 681. ⟨10.1016/j.gofs.2022.05.002⟩
Article dans une revue (article de synthèse) inserm-04042352 v1
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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⟩
Article dans une revue inserm-04042413 v1
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La contraception à travers le monde

Sophie Christin-Maitre
Médecine/Sciences, 2022, 38 (5), pp.457-463. ⟨10.1051/medsci/2022058⟩
Article dans une revue hal-03677764 v1
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Premature ovarian insufficiency in CLPB deficiency: transcriptomic, proteomic and phenotypic insights

Elena Tucker , Megan Baker , Daniella Hock , Julia Warren , Sylvie Jaillard et al.
Journal of Clinical Endocrinology and Metabolism, 2022, ⟨10.1210/clinem/dgac528⟩
Article dans une revue hal-03789813 v1
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Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)

H Mosbah , B Donadille , C Vatier , S Janmaat , M Atlan et al.
Orphanet Journal of Rare Diseases, 2022, ⟨10.1186/s13023-022-02308-7⟩
Article dans une revue hal-03649738 v1
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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 = Annals of Endocrinology, 2022, pp.S0003-4266(22)00005-1. ⟨10.1016/j.ando.2022.01.003⟩
Article dans une revue inserm-03798449 v1
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Prevalence and characteristics of gonadoblastoma in a retrospective multi-centre study with follow-up investigations of 70 patients with Turner syndrome and a 45,X/46,XY karyotype

Daphné Karila , Bruno Donadille , Juliane Leger , Claire Bouvattier , Anne Bachelot et al.
European Journal of Endocrinology, 2022, pp.EJE-22-0593. ⟨10.1530/EJE-22-0593⟩
Article dans une revue inserm-03851939 v1
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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⟩
Article dans une revue inserm-03855779 v1
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Androgens and spermatogenesis

Sophie Christin-Maitre , Jacques Young
Annales d'Endocrinologie = Annals of Endocrinology, 2022, 83 (3), pp.155-158. ⟨10.1016/j.ando.2022.04.010⟩
Article dans une revue (article de synthèse) inserm-04041364 v1

Monitoring gestational diabetes mellitus patients with the telemedicine application MyDiabby decreases the rate of foetal macrosomia

Tiphaine Meykiechel , Céline de Carne , Isabelle Gueguen , Camille Vatier , Guillaume Girard et al.
Diabetes & Metabolism, 2022, 48 (2), pp.101301. ⟨10.1016/j.diabet.2021.101301⟩
Article dans une revue (data paper) inserm-04041503 v1

Validation in the general population of a C-peptide estimate equation to measure beta cell function in recent-onset type 1 diabetes

Joanna Wang , Naiara Bediaga , Roberto Mallone , Etienne Larger , Leonard Harrison et al.
Acta Diabetologica, 2021, 58 (1), pp.115-117. ⟨10.1007/s00592-020-01604-7⟩
Article dans une revue hal-04009933 v1
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Heart and Turner syndrome

Bruno Donadille , Sophie Christin-Maitre
Annales d'Endocrinologie = Annals of Endocrinology, 2021, 82 (3-4), pp.135-140. ⟨10.1016/j.ando.2020.12.004⟩
Article dans une revue hal-03280276 v1

Prevalence of lifetime eating disorders in infertile women seeking pregnancy with pulsatile gonadotropin-releasing hormone therapy

Irema Barbosa-Magalhaes , Maurice Corcos , Julie Galey , Simone Perdigao-Cotta , Chrysoula Papastathi et al.
Eating and Weight Disorders - Studies on Anorexia, Bulimia and Obesity, 2021, 26 (2), pp.709-715. ⟨10.1007/s40519-020-00893-9⟩
Article dans une revue inserm-04042462 v1

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⟩
Article dans une revue (data paper) inserm-04042690 v1
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Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases

Wafa Kallali , Claude Messiaen , Roumaisah Saïdi , Soucounda Lessim , Magali Viaud et al.
Orphanet Journal of Rare Diseases, 2021, 16 (1), ⟨10.1186/s13023-021-02099-3⟩
Article dans une revue hal-03424550 v1
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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 , Geneviève Plu-Bureau , Anne Gompel et al.
Journal of the Endocrine Society, 2021, 5 (7), ⟨10.1210/jendso/bvab032/6154706⟩
Article dans une revue hal-03163621 v2

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 = Annals of Endocrinology, 2021, 82 (6), pp.555-571. ⟨10.1016/j.ando.2021.09.001⟩
Article dans une revue inserm-03856183 v1
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Gonad differentiation toward ovary

Sophie Lamothe , Valérie Bernard , Sophie Christin-Maitre
Annales d'Endocrinologie = Annals of Endocrinology, 2020, 81, pp.83 - 88. ⟨10.1016/j.ando.2020.04.004⟩
Article dans une revue (article de synthèse) hal-03490495 v1

Type 1 Diabetes in People Hospitalized for COVID-19: New Insights From the CORONADO Study

Matthieu Wargny , Pierre Gourdy , Lisa Ludwig , Dominique Seret-Bégué , Olivier Bourron et al.
Diabetes Care, 2020, 43 (11), pp.e174-e177. ⟨10.2337/DC20-1217⟩
Article dans une revue hal-03858576 v1
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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, 9 (3), pp.765. ⟨10.3390/cells9030765⟩
Article dans une revue hal-02586223 v1
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Prevalence and progression of aortic dilatation in adult patients with Turner syndrome: a cohort study

Bruno Donadille , Sophie Tuffet , Clement Cholet , Mariana Nedelcu , Nathalie Bourcigaux et al.
European Journal of Endocrinology, 2020, 183 (4), pp.463-470. ⟨10.1530/EJE-20-0284⟩
Article dans une revue hal-02946683 v1
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Référentiel de la Société francophone du diabète (SFD) : vaccination chez la personne diabétique

Laurence Dumeige , Livie Chatelais , Claire Bouvattier , Marc de Kerdanet , Capucine Hyon et al.
Médecine des Maladies Métaboliques, 2020, 14 (1), pp.46-57. ⟨10.1016/j.mmm.2020.01.010⟩
Article dans une revue hal-03656417 v1

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⟩
Article dans une revue inserm-03857359 v1

Cortisol and Aldosterone Responses to Hypoglycemia and Na Depletion in Women With Non-Classic 21-Hydroxylase Deficiency

Peter Kamenický , Anne Blanchard , Antonin Lamaziere , Céline Piedvache , Bruno Donadille et al.
Journal of Clinical Endocrinology and Metabolism, 2020, 105 (1), pp.55-64. ⟨10.1210/clinem/dgz005⟩
Article dans une revue hal-03677166 v1
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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⟩
Article dans une revue hal-02272036 v1
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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⟩
Article dans une revue hal-02948831 v1

Unilateral nonhaemorrhagic adrenal infarction as a cause of abdominal pain during pregnancy

F. Chasseloup , N. Bourcigaux , S. Christin-Maitre
Gynecological Endocrinology, 2019, 35 (11), pp.941-944. ⟨10.1080/09513590.2019.1622088⟩
Article dans une revue inserm-04047091 v1
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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⟩
Article dans une revue hal-02180018 v1

X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood

Elodie Fiot , Delphine Zenaty , Priscilla Boizeau , Jérémie Haignere , Sophie dos Santos et al.
European Journal of Endocrinology, 2019, 180 (6), pp.397-406. ⟨10.1530/EJE-18-0878⟩
Article dans une revue hal-02863454 v1
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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⟩
Article dans une revue inserm-03867576 v1

Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?

Laurence Dumeige , Livie Chatelais , Claire Bouvattier , Marc de Kerdanet , Capucine Hyon et al.
European Journal of Endocrinology, 2018, 179 (3), pp.181-190. ⟨10.1530/EJE-18-0309⟩
Article dans une revue hal-02616785 v1
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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⟩
Article dans une revue hal-03982827 v1

MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue

Emilie Capel , Camille Vatier , Pascale Cervera , Tanya Stojkovic , Emmanuel Disse et al.
Journal of clinical lipidology, 2018, 12 (6), pp.1420-1435. ⟨10.1016/j.jacl.2018.07.009⟩
Article dans une revue hal-04535814 v1
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Qualité du sperme et fertilité : rôle de l’environnement et de la santé

Sophie Lamothe , Véronique Kerlan , Sophie Christin-Maitre
Annales d'Endocrinologie = Annals of Endocrinology, 2018, 79, pp.S1-S9. ⟨10.1016/S0003-4266(18)31233-2⟩
Article dans une revue (article de synthèse) inserm-04097305 v1

Impact on testicular function of a single ablative activity of 3.7 GBq radioactive iodine for differentiated thyroid carcinoma

N Bourcigaux , C Rubino , I Berthaud , M Toubert , B Donadille et al.
Human Reproduction, 2018, 33 (8), pp.1408-1416. ⟨10.1093/humrep/dey222⟩
Article dans une revue inserm-03867732 v1
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MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue

Emilie Capel , Camille Vatier , Pascale Cervera , Tanya Stojkovic , Emmanuel Disse et al.
Journal of clinical lipidology, 2018, 12 (6), pp.1420-1435. ⟨10.1016/j.jacl.2018.07.009⟩
Article dans une revue hal-02566758 v1
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Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

Marie-France Portnoi , Marie-Charlotte Dumargne , Sandra Rojo , Selma F Witchel , Andrew J Duncan et al.
Human Molecular Genetics, 2018, 27 (7), pp.1228-1240. ⟨10.1093/hmg/ddy037⟩
Article dans une revue hal-02018306 v1

Use of Hormone Replacement in Females with Endocrine Disorders

Sophie Christin-Maitre
Hormone Research in Paediatrics, 2017, 87 (4), pp.215-223. ⟨10.1159/000457125⟩
Article dans une revue (article de synthèse) inserm-04006466 v1

Pituitary Adenoma Recurrence Suspected on Central Hyperthyroidism Despite Empty Sella and Confirmed by 68Ga-DOTA-TOC PET/CT

Mathieu Gauthé , Julie Sarfati , Nathalie Bourcigaux , Sophie Christin-Maitre , Jean-Noël Talbot et al.
Clinical Nuclear Medicine, 2017, 42 (6), pp.454-455. ⟨10.1097/RLU.0000000000001628⟩
Article dans une revue inserm-04047345 v1

Impact on testicular function of a single ablative activity of 3.7 GBq radioactive iodine for differentiated thyroid carcinoma

Bourcigaux Nathalie , Rubino Carole , Berthaut Isabelle , Donadille Bruno , Toubert Marie Elisabeth et al.
Endocrine Abstracts, 2017, 49 GP148
Article dans une revue hal-03117805 v1

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⟩
Article dans une revue inserm-03837666 v1
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Gangliocytoma: outcome of a rare silent pituitary tumour

Bruno Donadille , Chiara Villa , Stephan Gaillard , Sophie Christin-Maitre
BMJ Case Reports, 2017, 2017, pp.bcr2016218859. ⟨10.1136/bcr-2016-218859⟩
Article dans une revue hal-02948823 v1

The CORALIE study: improving patient education to help new users better understand their oral contraceptive

Pia De Reilhac , Genevieve Plu-Bureau , David Serfaty , Brigitte Letombe , Jean Gondry et al.
European Journal of Contraception and Reproductive Health Care, 2016, 21 (5), pp.388-394. ⟨10.1080/13625187.2016.1217323⟩
Article dans une revue hal-03603919 v1

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⟩
Article dans une revue (data paper) inserm-04006530 v1

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⟩
Article dans une revue hal-01473964 v1

French law: what about a reasoned reimbursement of serum vitamin D assays?

Jc Souberbielle , France Benhamou , Bernard Cortet , France Rousière , France Roux et al.
Gériatrie et psychologie & neuropsychiatrie du vieillissement, 2016, 14 (4), pp.377-382. ⟨10.1684/pnv.2016.0631⟩
Article dans une revue (article de synthèse) hal-01465951 v1

Toward a multi-country monitoring system of reproductive health in the context of endocrine disrupting chemical exposure

Joëlle Le Moal , Richard M. Sharpe , Niels Jφrgensen , Hagai Levine , Joanna Jurewicz et al.
European Journal of Public Health, 2016, 26 (1), pp.76-83. ⟨10.1093/eurpub/ckv153⟩
Article dans une revue hal-01197348 v1

Deletion of CPEB1 Gene: A Rare but Recurrent Cause of Premature Ovarian Insufficiency

Capucine Hyon , L. Mansour-Hendili , S. Chantot-Bastaraud , Bruno Donadille , V. Kerlan et al.
Journal of Clinical Endocrinology and Metabolism, 2016, 101 (5), pp.2099-2104. ⟨10.1210/jc.2016-1291⟩
Article dans une revue hal-02042408 v1

Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey

Claire Bouvattier , Laure Esterle , Peggy Renoult-Pierre , Aude Brac de La Perrière , Frédéric Illouz et al.
Journal of Clinical Endocrinology and Metabolism, 2015, 100 (6), pp.2303-2313. ⟨10.1210/jc.2014-4124⟩
Article dans une revue hal-02025462 v1

Hormones, grossesse et relation materno-fætale

E. Gailly-Fabre , V. Kerlan , S. Christin-Maitre
Annales d'Endocrinologie = Annals of Endocrinology, 2015, 76 (6), pp.S39-S50
Article dans une revue hal-02025529 v1
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Steroidogenic enzyme profile in an androgen-secreting adrenocortical oncocytoma associated with hirsustism

Milène Tetsi Nomigni , Sophie Ouzounian , Alice Benoit , Jacqueline Vadrot , Frédérique Tissier et al.
Endocrine Connections, 2015, 4 (2), pp.117 - 127. ⟨10.1530/EC-15-0014⟩
Article dans une revue hal-01901890 v1

Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study

J. Thevenon , A. Bourredjem , L. Faivre , C Cardot-Bauters , A. Calender et al.
European Journal of Endocrinology, 2015, 173 (6), pp.819-826. ⟨10.1530/EJE-15-0691⟩
Article dans une revue hal-02546020 v1

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⟩
Article dans une revue hal-01225515 v1

p.Ala541Thr variant of MEN1 gene: A non deleterious polymorphism or a pathogenic mutation?

Cecile Nozières , Chang-Xian Zhang , Alexandre Buffet , Stéphanie Dupasquier , Rosa Vargas-Poussou et al.
Annales d'Endocrinologie = Annals of Endocrinology, 2014, 75 (3), pp.133-140. ⟨10.1016/j.ando.2014.05.003⟩
Article dans une revue hal-03276624 v1

Ketoconazole in Cushing's disease: is it worth a try?

Frédéric Castinetti , Laurence Guignat , Pauline Giraud , Marie Muller , Peter Kamenicky et al.
Journal of Clinical Endocrinology and Metabolism, 2014, 99 (5), pp.1623-1630. ⟨10.1210/jc.2013-3628⟩
Article dans une revue hal-04213006 v1

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients

Séverine Marcos , Julie Sarfati , Chrystel Leroy , Corinne Fouveaut , Philippe Parent et al.
Journal of Clinical Endocrinology and Metabolism, 2014, 99 (10), pp.E2138 - 43. ⟨10.1210/jc.2014-2110⟩
Article dans une revue hal-03404122 v1
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Intraadrenal Corticotropin in Bilateral Macronodular Adrenal Hyperplasia

Estelle Louiset , Céline Duparc , Jacques Young , Sylvie Renouf , Milène Tetsi Nomigni et al.
New England Journal of Medicine, 2013, 369 (22), pp.2115 - 2125. ⟨10.1056/NEJMoa1215245⟩
Article dans une revue hal-01908272 v1
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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⟩
Article dans une revue inserm-00847200 v1

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⟩
Article dans une revue hal-02135887 v1
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Cardiovascular findings and management in Turner syndrome: insights from a French cohort

Bruno Donadille , Alexandra Rousseau , Delphine Zenaty , Sylvie Cabrol , Carine Courtillot et al.
European Journal of Endocrinology, 2012, 167 (4), pp.517-522. ⟨10.1530/EJE-12-0434⟩
Article dans une revue hal-02948839 v1

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 = Annals of Endocrinology, 2012, 73 (5), pp.469-87. ⟨10.1016/j.ando.2012.09.001⟩
Article dans une revue hal-00932019 v1

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⟩
Article dans une revue hal-01006500 v1

[Editorial].

Véronique Kerlan , Sophie Christin-Maitre
Annales d'Endocrinologie = Annals of Endocrinology, 2011, 72 Suppl 1, pp.S1. ⟨10.1016/S0003-4266(11)70002-6⟩
Article dans une revue hal-00931166 v1

Polycystic ovarian syndrome and ovarian insufficiency

Sophie Christin-Maitre
6th international symposium, Marrakech fertility institute, Sep 2022, Marrakech (MA), Morocco
Communication dans un congrès inserm-04119549 v1

Role of testosterone on spermatogenesis

Sophie Christin-Maitre
Journées Internationales d'Endocrinologie Clinique Henri-Pierre Klotz, Jun 2022, Paris, France
Communication dans un congrès inserm-04121076 v1

What is the best solution to manage failures of chromosomal structural variations detection by short-read strategy?

Caroline Schluth-Bolard , Laïla El-Khattabi , Nicolas Chatron , Marion Beaumont , Nicolas Reynaud et al.
54th European Society of Human Genetics (ESHG) Conference, Jun 2022, Vienne, Austria. pp.80-81
Communication dans un congrès cea-04352532 v1

Statut gonadotrope de 56 femmes adultes atteintes d’un syndrome d’interruption de la tige pituitaire

A. Terray , J. Young , T. Brue , G. Raverot , F. Illouz et al.
36ème Congrès de la Société Française d’Endocrinologie, Oct 2020, Marseille, France. pp.169-170, ⟨10.1016/j.ando.2020.07.099⟩
Communication dans un congrès hal-04603525 v1

Pregnancies and Turner syndrome

Sophie Christin-Maitre
13th Congress of the European Society of Gynecology (ESG), Oct 2019, Vienna (Austria), Austria
Communication dans un congrès inserm-04155615 v1

Turner and pregnancy

Sophie Christin-Maitre
Controversies in gyneco obstetrics, Nov 2019, Paris, France
Communication dans un congrès inserm-04157106 v1

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
Communication dans un congrès inserm-04125559 v1

Expression des enzymes de la stéroïdogenèse dans une tumeur surrénalienne oncocytaire sécrétant des androgènes

M. Tetsi Nomigni , S. Ouzounian , Angélique Benoit , J. Vadrot , F. Tissier et al.
32eme congrès de la Société Française d'Endocrinologie, Oct 2015, Angers, France. Annales d'Endocrinologie, 76 (4), pp.361-362, 2015, ⟨10.1016/j.ando.2015.07.196⟩
Poster de conférence hal-02401116 v1

Human genetic of premature ovarian failure: a mendelian and candidate genes approach

Sandrine Caburet , Frank Batista , Paul Laissue , A. Veitia Reiner , Marc Fellous et al.
"The First Seven days: from gametes to blastocysts and stem cell". Serono Symposium, Apr 2006, Tampa, United States. 1 p., 2006
Poster de conférence hal-02816892 v1