Zobrazeno 1 - 9 of 9 pro vyhledávání: '"Brooke, Meader"'
2
Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea
Autor: Richard Quinton, Brooke Meader, Katie L. Lewis, Janet E. Hall, Corrine K. Welt, Joan E. Bailey-Wilson, Leslie G. Biesecker, Alessandro Albano, Christopher A. Lavender, Natalie Shaw, Angela Delaney, Verónica Mericq, Paulina M. Merino, Stephanie B. Seminara, Adam B. Burkholder, Lacey Plummer, Kathryn A. Martin
Publikováno v: J Clin Endocrinol Metab
Context Functional hypothalamic amenorrhea (HA) is a common, acquired form of hypogonadotropic hypogonadism that occurs in the setting of energy deficits and/or stress. Variability in individual susceptibility to these stressors, HA heritability, and
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4abe6f45a8b6d00cda1d49468209b2d
https://doi.org/10.1210/clinem/dgaa609
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3
Heterozygous Deletions in MKRN3 Cause Central Precocious Puberty Without Prader-Willi Syndrome
Autor: Alessandro Albano, Hilal Sekizkardes, Angela Delaney, Brooke Meader
Publikováno v: J Clin Endocrinol Metab
Context Loss-of-function mutations in the imprinted genes MKRN3 and DLK1 cause central precocious puberty (CPP) but whole gene deletions have not been reported. Larger deletions of the chromosome 15q11-13 imprinted locus, including MKRN3, cause Prade
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d950b2b4f13153a83d1e784d60c3d16d
https://doi.org/10.1210/clinem/dgaa331
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5
Insight into the ontogeny of GnRH neurons from patients born without a nose
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
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
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6
OR11-6 Rare Sequence Variants in GnRH-Associated Genes May Contribute to Variable Susceptibility to Environmental Stressors in Functional Hypothalamic Amenorrhea
Autor: Angela Delaney, Lacey Plummer, Adam Burkholder, Maria Mericq, Paulina Merino, Richard Quinton, Katie Lewis, Brooke Meader, Natalie Shaw, Corrine Welt, Kathryn Martin, Stephanie Seminara, Leslie Biesecker, Joan Bailey-Wilson, Janet Hall
Publikováno v: Journal of the Endocrine Society
Some, but not all, women develop hypothalamic amenorrhea (HA) in association with exercise and/or food restriction. We hypothesized that variants in genes associated with the more severe hypogonadotropic disorder, idiopathic hypogonadotropic hypogona
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::531b2f75eb5ec8d8e827f5f1c9c57f4c
https://doi.org/10.1210/js.2019-or11-6
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7
SUN-438 Spontaneous Recovery of the Hypothalamic-Pituitary-Gonadal (HPG) Axis in a Female with Kallmann Syndrome
Autor: Angela Delaney, Janet E. Hall, Brooke Meader, Iris R Hartley, Skand Shekhar
Publikováno v: Journal of the Endocrine Society
Background: Kallmann Syndrome (KS) is characterized by hypogonadotropic hypogonadism (HH) due to isolated GnRH deficiency (IGD) and anosmia. While reversal of KS has been described, predominantly in males, few cases have been described in females. We
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e10d1e53cc4c53f94e9a88635b026e27
http://europepmc.org/articles/PMC6552760
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