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Frontiers in Endocrinology|October 26, 2023
Identifying patient-related predictors of permanent growth hormone deficiencyVeronica Mericq, German Iñiguez, Graziella Pinto, et al.
The Journal of Clinical Endocrinology and Metabolism|October 31, 2013
24-month use of once-weekly GH, LB03002, in prepubertal children with GH deficiencyVaman Khadilkar, Klavdia A Radjuk, Elena Bolshova, et al.
The Journal of Clinical Endocrinology and Metabolism|January 7, 2011
Expanding the phenotype and genotype of female GnRH deficiencyNatalie D Shaw, Stephanie B Seminara, Corrine K Welt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 14, 2021
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variantsRebecca A Rojas, Anna A Kutateladze, Lacey Plummer, et al.
The Journal of Clinical Endocrinology and Metabolism|September 2, 2020
Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic AmenorrheaAngela Delaney, Adam B Burkholder, Christopher A Lavender, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 5, 2014
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiencyRavikumar Balasubramanian, Jin-Ho Choi, Ludmila Francescatto, et al.
The Journal of Clinical Endocrinology and Metabolism|June 30, 2012
When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR)Elena Gianetti, Janet E Hall, Margaret G Au, et al.
European Journal of Medical Genetics|August 14, 2016
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factorJeroen Breckpot, Marieke Vercruyssen, Eddy Weyts, et al.
Endocrine Reviews|January 13, 2023
International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early AdulthoodAnita C S Hokken-Koelega, Manouk van der Steen, Margaret C S Boguszewski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 30, 2022
The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assayMargaret F Lippincott, Wanxue Xu, Abigail A Smith, et al.
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