Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Daniela Söderlund"'
Autor:
Juan Pablo Méndez, Berenice López-Hernández, Juan Carlos Zenteno, Ramón Mauricio Coral-Vázquez, Jesús Benítez-Granados, Vanessa Villegas-Ruiz, Patricia Canto, Raúl Calzada-León, Daniela Söderlund
Publikováno v:
Reproductive BioMedicine Online. 37:107-112
Research question The purpose of the present study was to investigate whether ten unrelated SRY-negative individuals with this sex differentiation disorder presented a double dose of SOX9 as the cause of their disease. Design Ten unrelated SRY-negati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c5c45c8c20f0371361855498847e5d8
https://doi.org/10.1016/j.rbmo.2018.03.017
https://doi.org/10.1016/j.rbmo.2018.03.017
Publikováno v:
Gynecological Endocrinology. 22:484-487
Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies in women of childbearing age and is characterized by chronic anovulation with either oligomenorrhea or amenorrhea and hyperandrogenism. The etiology of this entity remains un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::211f8debe5fd75759a8bc3b7b49f58c2
https://doi.org/10.1080/09513590600911698
https://doi.org/10.1080/09513590600911698
Autor:
Marvin A. Soriano-Ursúa, Daniela Söderlund, Juan Pablo Méndez, Elith Yazmin Valencia-Villalvazo, Ramón Mauricio Coral-Vázquez, Patricia Canto, Agustín Coronel, Juan Carlos Zenteno
Publikováno v:
Endocrine research. 40(3)
Purpose/aim of the study: To date, different genes have been identified as responsible for the presence of normosmic congenital hypogonadotropic hypogonadism (nCHH). Herein, we report the molecular findings regarding the analysis of PROK2, in two bro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4599b60dcb30c91a56d682425b8bf29b
https://pubmed.ncbi.nlm.nih.gov/25531638
https://pubmed.ncbi.nlm.nih.gov/25531638
Publikováno v:
MHR: Basic science of reproductive medicine. 11:833-836
Aetiology of mixed gonadal dysgenesis (MGD) has not been completely elucidated. Molecular analyses have failed to demonstrate the presence of mutations in sex-determining region on Y chromosome (SRY); it has been suggested that these individuals may
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c316665b64d58db3a26c1787a550d62
https://doi.org/10.1093/molehr/gah216
https://doi.org/10.1093/molehr/gah216
Publikováno v:
The Endocrinologist. 15:18-21
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::090f315777cb8a18bd4e0e8ef45f000a
https://doi.org/10.1097/01.ten.0000152841.51955.27
https://doi.org/10.1097/01.ten.0000152841.51955.27
Publikováno v:
European Journal of Obstetrics & Gynecology and Reproductive Biology. 115:55-58
Objective : To investigate the presence of mutations in the open reading frame (ORF), as well as on the 5′ and 3′, flanking regions of the SRY gene in patients with mixed gonadal dysgenesis (MGD) or with Turner syndrome (TS) and Y mosaicism. Stud
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d46b701029503f45316973259db4893b
https://doi.org/10.1016/j.ejogrb.2003.10.035
https://doi.org/10.1016/j.ejogrb.2003.10.035
Autor:
Irineo Escudero, Juan Pablo Méndez, Sebastián Carranza-Lira, Patricia Canto, Andres Nava, Elisa Nishimura, Jesus Gutierrez, Daniela Söderlund
Publikováno v:
Journal of Human Genetics. 48:0086-0090
Two independent studies demonstrated that transgenic mice with a targeted deletion of the insulin-like 3 ( INSL3) gene presented bilateral cryptorchidism. Studies in humans have investigated the possibility that mutations in the INSL3 gene are the ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6230c25396a107163c17eab56c6e9a58
https://doi.org/10.1007/s100380300012
https://doi.org/10.1007/s100380300012
Autor:
Jo Ann Janovick, Daniela Söderlund, Juan Pablo Méndez, Alfredo Ulloa-Aguirre, P. Michael Conn, Guadalupe Maya-Núñez
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 87:2144-2149
GnRH regulates the synthesis and release of pituitary gonadotropins. Mutations in the human GnRH receptor (hGnRHR) gene have been reported in families with hypogonadotropic hypogonadism. Our group recently described a novel homozygous E(90)K mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b6f0f6563a0c70b38dd79530dd53aa2
https://doi.org/10.1210/jcem.87.5.8386
https://doi.org/10.1210/jcem.87.5.8386
Publikováno v:
American Journal of Medical Genetics. 108:148-152
Inactivating mutations of the luteinizing hormone receptor (LHR) gene in males induce Leydig cell agenesis or hypoplasia, while activating mutations cause testotoxicosis. Recently, it was demonstrated that a somatic heterozygous activating mutation o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::37a96a3086424613da8d4193836d50a4
https://doi.org/10.1002/ajmg.10218
https://doi.org/10.1002/ajmg.10218
Publikováno v:
Clinical Endocrinology. 54:493-498
BACKGROUND and OBJECTIVE Mutations in the GnRH receptor (GnRH-R) gene cause hypogonadotrophic hypogonadism. Here, we present the molecular studies of the GnRH-R gene in three families with isolated hypogonadotrophic hypogonadism. PATIENTS Three unrel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4534e44497be6c92d1c12eca5ed47560
https://doi.org/10.1046/j.1365-2265.2001.01211.x
https://doi.org/10.1046/j.1365-2265.2001.01211.x