Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Nadège Servant"'
Autor:
Charles Sultan, Jean Breaud, Nicolas Kalfa, Alice Faure, Nadège Servant-Fauconnet, Françoise Paris, Laura Gaspari, Anne Bergougnoux, Vuthy Ea, Pascal Philibert
Publikováno v:
European Urology. 79:507-515
Background Next-generation sequencing (NGS) is generally used for patients with severe disorders of sex development (DSD). However, NGS has not been applied extensively for patients with hypospadias only, and most affected children do not benefit fro
Autor:
Nicolas Kalfa, Anne Bergougnoux, Pascal Philibert, Nadège Servant-Fauconnet, Alice Faure, Jean Breaud, Laura Gaspari, Charles Sultan
Publikováno v:
Journal of Urology. 207
Autor:
Nicolas Kalfa, Anne Bergougnoux, Pascal Philibert, Nadège Servant-Fauconnet, Alice Faure, Jean Breaud, Laura Gaspari, Charles Sultan, Françoise Paris, Vuthy EA
Publikováno v:
Journal of Urology. 206
Autor:
Nadège Servant, Charles Sultan, A. Daussac, P. Barat, F Lavran, Françoise Paris, M. Yacoub, Laura Gaspari, S. Missonier
Publikováno v:
Endocrine Research
Endocrine Research, Taylor & Francis, 2020, 45 (1), pp.32-40. ⟨10.1080/07435800.2019.1645163⟩
Endocrine Research, Taylor & Francis, 2020, 45 (1), pp.32-40. ⟨10.1080/07435800.2019.1645163⟩
International audience; Purpose: Testotoxicosis is an autosomal dominant form of limited gonadotropin-independent precocious puberty in boys. It is caused by a heterozygous constitutively activating mutation of the LHCGR gene encoding the luteinizing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f99bfcfec1363f5feb0d70d02ec0e2ba
https://hal.umontpellier.fr/hal-03361967
https://hal.umontpellier.fr/hal-03361967
Autor:
Charles Sultan, Nadège Servant, F. Albarel, Anne Bergougnoux, Nicolas Kalfa, Rachel Reynaud, Laura Gaspari, Vuthy Ea, Eric Renard, Françoise Paris
Publikováno v:
Annales d'Endocrinologie. 81:245
Objectif Comprendre les bases moleculaires des insensibilites completes aux androgenes (ICA) avec une sequence codante du RA normale. Patients et methodes Deux patientes de 37 et 36 ans avec un phenotype typique d’ICA. Le diagnostic d’ICA a ete e
Autor:
Nadège Servant, Abdelhay Boulahtouf, Patrick Balaguer, Nicolas Kalfa, Françoise Paris, Laura Gaspari, William Bourguet, Marie P. Guibal, Charles Sultan
Publikováno v:
Sexual Development
Sexual Development, Karger, 2018, ⟨10.1159/000491114⟩
Sexual Development, Karger, 2018, ⟨10.1159/000491114⟩
Mutations of the androgen receptor (AR) gene are the most frequent cause of 46,XY disorders of sex development. They are associated with a variety of phenotypes, ranging from phenotypic women (complete androgen insensitivity syndrome, CAIS) to milder
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e325d5f577e6f83fe91a7c845e348da
https://hal.umontpellier.fr/hal-02291315
https://hal.umontpellier.fr/hal-02291315
Autor:
Sandrine Caburet, Bérangère Legois, Charles Sultan, Nadège Servant, Françoise Paris, Reiner A. Veitia, Delphine Flatters, Hervé Lefebvre
Publikováno v:
Clinical Endocrinology
Clinical Endocrinology, Wiley, 2017, 87 (5), pp.539-544. ⟨10.1111/cen.13420⟩
Clinical Endocrinology, Wiley, 2017, 87 (5), pp.539-544. ⟨10.1111/cen.13420⟩
SummaryObjective Disorders of sex development (DSD) are a heterogeneous group of conditions affecting the differentiation and development of the internal and external genitalia. Here, we aimed at identifying the genetic cause of DSD in two 46,XY sist
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af1dc4b8acf79952becc95a7a11402ce
https://hal.archives-ouvertes.fr/hal-01758673
https://hal.archives-ouvertes.fr/hal-01758673
Autor:
Laura Gaspari, Catherine Pienkowski, Hélène Bonnaure, Nicolas Kalfa, Marc Nicolino, Charles Sultan, Françoise Paris, Frederic Hameury, Nadège Servant
Publikováno v:
Prenatal Diagnosis. :1-5
Objective Beyond the classic triad of peripheral precocious puberty, cafe-au-lait skin pigmentation and polyostotic fibrous dysplasia, partial presentation McCune–Albright syndrome (MAS) has been reported, including the association of isolated recu
Autor:
Charles Sultan, Laura Gaspari, Nicolas Kalfa, Laurent Maïmoun, Pascal Philibert, Françoise Audran, Mattea Orsini, Françoise Paris, Nadège Servant
Publikováno v:
European Journal of Endocrinology. 165:579-587
Objective46,XY disorders of sex differentiation (46,XY DSD) can be due to a testis determination defect, an androgen biosynthesis defect, or androgen resistance (complete or partial androgen insensitivity syndrome (PAIS), or 5α reductase deficiency)
Autor:
Amrit Bhangoo, F. Poulat, Nadège Servant, Pascal Philibert, Charles Sultan, Françoise Paris, Svetlana Ten, Françoise Audran, Najiba Lahlou, K. De Ferran
Publikováno v:
International Journal of Andrology. 34:e518-e525
Micropenis is defined as a stretched penile length of less than 2-2.5SD for age. Aetiologies include hypogonadotropic hypogonadism, testicular dysgenesis, defects in testosterone synthesis, androgen resistance [5α-reductase (5αR) deficiency or part