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Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs5)
Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs5)
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Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs5)

Teoli, Jordan ; Mallet, Delphine ; Renault, Lucie ; Gay, Claire-Lise ; Labrune, Elsa ; Bretones, Patricia ; Giscard D'Estaing, Sandrine ; Cuzin, Béatrice ; Dijoud, Frédérique ; Roucher-Boulez, Florence ; Plotton, Ingrid

Frontiers in endocrinology, 2023, Vol.14, p.1171822-1171822

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2
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants
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Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants

Mazel, Benoit ; Mallet, Delphine ; Roucher-Boulez, Florence ; Signor, Candace Ben ; Bournez, Marie ; Darmency, Véronique ; Bourgeois, Valentin ; Poe, Charlotte ; El Khabbaz, Fares ; Vitobello, Antonio ; Philippe, Christophe ; Duffourd, Yannis ; Thauvin-Robinet, Christel ; Faivre, Laurence ; Nambot, Sophie

American journal of medical genetics. Part A, 2022, Vol.188 (12), p.3540-3545

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3
Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with CYP11A1 Deficiency
Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with CYP11A1 Deficiency
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Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with CYP11A1 Deficiency

Garcia, Cyril ; Dusaud, Marie ; Chiron, Paul ; Sollier, Mathilde ; Nassouri, Sika ; Groussin, Lionel ; Sibony, Mathilde ; Goursaud, Claire ; Roucher-Boulez, Florence ; Bordier, Lyse

Case reports in endocrinology, 2021, Vol.2021, p.5889007-5889007

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4
Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo Disorder
Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo Disorder
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Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo Disorder

Roucher-Boulez, Florence ; Mallet, Delphine ; Chatron, Nicolas ; Dijoud, Frédérique ; Gorduza, Daniela Brindusa ; Bretones, Patricia ; Morel, Yves

Frontiers in endocrinology, 2019, Vol.10, p.625-625

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5
Digestive protein loss from an ileal multifocal stromal tumor
Digestive protein loss from an ileal multifocal stromal tumor
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Digestive protein loss from an ileal multifocal stromal tumor

Ouzzif, Amina ; Seddik, Hassan ; Boulez, Jean ; Scoazec, Jean-Yves ; Lapalus, Marie-George

Gastroenterologie clinique et biologique, 2005, Vol.29 (10), p.1066-1068

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6
Complete response of an HIV negative gastric Kaposi's sarcoma (KS) patient with peritoneal carcinomatosis by liposomal daunorubicin treatment
Complete response of an HIV negative gastric Kaposi's sarcoma (KS) patient with peritoneal carcinomatosis by liposomal daunorubicin treatment
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Complete response of an HIV negative gastric Kaposi's sarcoma (KS) patient with peritoneal carcinomatosis by liposomal daunorubicin treatment

Fléchon, A. ; Lombard-Bohas, C. ; Boulez, J. ; Blay, J.-Y. ; Scoazec, J.-Y.

Annals of Oncology, 2001, Vol.12 (2), p.275-276

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