Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Kathryn B. Salnikov"'
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:
Andrew A. Dwyer, Maria Stamou, Isabella R. McDonald, Ella Anghel, Kimberly H. Cox, Kathryn B. Salnikov, Lacey Plummer, Stephanie B. Seminara, Ravikumar Balasubramanian
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
Congenital hypogonadotropic hypogonadism (HH) is a heterogeneous genetic disorder characterized by disrupted puberty and infertility. In most cases, HH is abiding yet 10-15% undergo reversal. Men with HH and absent and partial puberty (i.e., testicul
Externí odkaz:
https://doaj.org/article/18e0680c3eac4e6daa6b0aff033203f9
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
Autor:
Rolando Prada, Tatiana Pineda Buitrago, Cristiano Tonello, Hallvard Reigstad, Rameshwar Prasad, Jennifer Henkind, Brooke Meader, Natalie D. Shaw, Susan Kim, Bianca E Russell, Janice Lee, John M. Graham, Gazal Arora, Kathleen A. Williamson, Nancy Mizue Kokitsu-Nakata, Ravikumar Balasubramanian, Rita Volochayev, Yline Capri, Stephanie B. Seminara, Kaoru Inoue, Jennifer R. Law, Germaine Y Noukelak, Orlando Perez, Andrew A. Dwyer, Laura J. Chalmers, Uttam Mondal, Angela Delaney, Konstantinia Almpani, Kathryn B Salnikov, Janet E. Hall, Roseli Maria Zechi-Ceide, Kosuke Morioka, Katharina Steindl, Chie-Hee Cho, Jose Elias Garcia, Gisele da Silva Dalben, Lacey Plummer, William F. Crowley, Christina Jacobsen, Michiyo Mizota, Angela E. Lin, Angela M. Kaindl, Anita Rauch, Nicole P DiOrio, Scott A. Clements, Siulan Vendramini-Pittoli
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
J Clin Endocrinol Metab
Universidade de São Paulo (USP)
instacron:USP
J Clin Endocrinol Metab
Context The reproductive axis is controlled by a network of gonadotropin-releasing hormone (GnRH) neurons born in the primitive nose that migrate to the hypothalamus alongside axons of the olfactory system. The observation that congenital anosmia (in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b852ae097116cf9e5978cc61651807e1
Autor:
Tatiana Pineda Buitrago, Rauch Anita, Katharina Steindl, Brooke Meader, Janet E. Hall, Angela Delaney, Orlando Perez Silva, Hallvard Reigstad, Rameshwar Prasad, Cho Chie-Hee, Natalie Shaw, Nadine Almpani, Laura J. Chalmers, Janice Lee, Jennifer R. Law, Kathryn B Salnikov, Jennifer Henkind, Andrew A. Dwyer, Lacey Plummer, William F. Crowley, John Graham, Angela M. Kaindl, Germaine Y Noukelak, Angela E. Lin, Christina Jacobsen, Kathleen A. Williamson, Stephanie B. Seminara, Scott A. Clements, Loeys Bart, Brian P. Brooks, Nicole P DiOrio, José Elías García-Ortiz, Uttam Mondal, Rita Volochayev, Bianca E Russell, Ravikumar Balasubramanian
Publikováno v:
Journal of the Endocrine Society
Congenital arhinia (absent external nose) is an extremely rare mendelian disorder (