Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Maria I Stamou"'
Autor:
Jessica Cassin, Maria I. Stamou, Kimberly W. Keefe, Kaitlin E. Sung, Celine C. Bojo, Karen J. Tonsfeldt, Rebecca A. Rojas, Vanessa Ferreira Lopes, Lacey Plummer, Kathryn B. Salnikov, David L. Keefe Jr., Metin Ozata, Myron Genel, Neoklis A. Georgopoulos, Janet E. Hall, William F. Crowley Jr., Stephanie B. Seminara, Pamela L. Mellon, Ravikumar Balasubramanian
Publikováno v:
JCI Insight, Vol 8, Iss 3 (2023)
Pathogenic SRY-box transcription factor 2 (SOX2) variants typically cause severe ocular defects within a SOX2 disorder spectrum that includes hypogonadotropic hypogonadism. We examined exome-sequencing data from a large, well-phenotyped cohort of pat
Externí odkaz:
https://doaj.org/article/767994d5a65b43fab45a677b83b0584b
Autor:
Xinying Wang, Danna Chen, Yaguang Zhao, Meichao Men, Zhiheng Chen, Fang Jiang, Ruizhi Zheng, Maria I Stamou, Lacey Plummer, Ravikumar Balasubramanian, Jia-Da Li
Publikováno v:
Human Molecular Genetics. 32:1722-1729
Isolated hypogonadotropic hypogonadism (IHH) is a rare disease with hypogonadism and infertility caused by the defects in embryonic migration of hypothalamic gonadotropin-releasing hormone (GnRH) neurons, hypothalamic GnRH secretion or GnRH signal tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4dbc1b1bc5ba93483ba327a338c07459
https://doi.org/10.1093/hmg/ddad014
https://doi.org/10.1093/hmg/ddad014
Autor:
Andrew A Dwyer, Maria I Stamou, Ella Anghel, Shira Hornstein, Danna Chen, Kathryn B Salnikov, Isabella R McDonald, Lacey Plummer, Stephanie B Seminara, Ravikumar Balasubramanian
Publikováno v:
J Clin Endocrinol Metab
Context Isolated hypogonadotropic hypogonadism (IHH) is phenotypically and genetically heterogeneous. Objective This work aimed to determine the correlation between genotypic severity with pubertal and neuroendocrine phenotypes in IHH men. Methods A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e643f69edf49ed87ae73625c54db544b
https://doi.org/10.1210/clinem/dgac615
https://doi.org/10.1210/clinem/dgac615
Publikováno v:
Hormones. 21:729-734
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::68b9f54e30ee0d655d61c953a9635f62
https://doi.org/10.1007/s42000-022-00388-5
https://doi.org/10.1007/s42000-022-00388-5
Autor:
George Adonakis, Nikolaos D. Roupas, Anastasia K. Armeni, Maria I. Stamou, Dimitra Mantzou, Konstantinos Assimakopoulos, Neoklis A. Georgopoulos, Georgios K. Markantes
Publikováno v:
The Journal of Sexual Medicine. 18:1872-1879
Background Even though polycystic ovary syndrome (PCOS) is a common reproductive disorder affecting young women, its impact on their sexual health is not well known. Aim To examine the different aspects of female sexuality in young women with PCOS an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b18d721f4e4db615a9d8b0458d18b07
https://doi.org/10.1016/j.jsxm.2021.09.004
https://doi.org/10.1016/j.jsxm.2021.09.004
Autor:
Paulina M. Merino, Ruslan I. Sadreyev, Stephanie B. Seminara, Lacey Plummer, Angela Delaney, Fei Ji, Verónica Mericq, Richard Quinton, William F. Crowley, Anna A. Kutateladze, Rebecca A. Rojas, David L. Keefe, Katarina Gambosova, Eric Fliers, Ravikumar Balasubramanian, Maria I. Stamou, Janet E. Hall, Kathyrn B. Salnikov
Publikováno v:
Genetics in medicine, 23(4), 629-636. Lippincott Williams and Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose SOX10 variants previously implicated in Waardenburg syndrome (WS) have now been linked to Kallmann syndrome (KS), the anosmic form of idiopathic hypogonadotropic hypogonadism (IHH). We investigated whether SOX10-associated WS and IHH represen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a3cb0f30c4947d8928d4c4814360523
https://doi.org/10.1038/s41436-020-01051-3
https://doi.org/10.1038/s41436-020-01051-3
Autor:
Maria I. Stamou, Christopher Chen, Seth A. Wander, Jeffrey G. Supko, Dejan Juric, Aditya Bardia, Deborah J. Wexler
Publikováno v:
JCO Precis Oncol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0cebcf4dba899120e8f0a7176d8d0a9
https://doi.org/10.1200/po.21.00428
https://doi.org/10.1200/po.21.00428
Autor:
Maria I Stamou, Harrison Brand, Mei Wang, Isaac Wong, Margaret F Lippincott, Lacey Plummer, William F Crowley, Michael Talkowski, Stephanie Seminara, Ravikumar Balasubramanian
Publikováno v:
J Clin Endocrinol Metab
Context The genetic architecture of isolated hypogonadotropic hypogonadism (IHH) has not been completely defined. Objective To determine the role of copy number variants (CNVs) in IHH pathogenicity and define their phenotypic spectrum. Methods Exome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f62478648df97a27f88e9b70c39a0c2
https://pubmed.ncbi.nlm.nih.gov/35727719
https://pubmed.ncbi.nlm.nih.gov/35727719