Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants

Autor: Payam Mohassel, Ning Chang, Kaoru Inoue, Angela Delaney, Ying Hu, Sandra Donkervoort, Dimah Saade, B. Jeanne Billioux, Brooke Meader, Rita Volochayev, Chamindra G. Konersman, Angela M. Kaindl, Chie-Hee Cho, Bianca Russell, Adrian Rodriguez, K. Wade Foster, A. Reghan Foley, Steven A. Moore, Peter L. Jones, Carsten G. Bonnemann, Takako Jones, Natalie D. Shaw

Publikováno v: Neurology. 98:e1384-e1396

Background and ObjectivesFacioscapulohumeral muscular dystrophy type 2 (FSHD2) and arhinia are 2 distinct disorders caused by pathogenic variants in the same gene: SMCHD1. The mechanism underlying this phenotypic divergence remains unclear. In this s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cf709b5af4a47797ec6393c630f9f4b3
https://doi.org/10.1212/wnl.0000000000200032

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

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

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