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Items: 10

Select item 84115341.

Isolated growth hormone deficiency type IA due to a novel GH1 variant: a case report

Xi Yang, Mingming Yuan, Zhuoguang Li, Yanqin Ying, Ling Hou, Xiaoping Luo

BMC Med Genomics. 2021; 14: 210. Published online 2021 Sep 2. doi: 10.1186/s12920-021-01057-z

PMCID:: PMC8411534

Article PDF–1.5M

Select item 83194252.

A prospective study revealing the role of an immune-related eRNA, WAKMAR2, in breast cancer

Linbang Wang, Jingkun Liu, Jiaojiao Tai, Nian Zhou, Tianji Huang, Yuzhou Xue, Zhengxue Quan

Sci Rep. 2021; 11: 15328. Published online 2021 Jul 28. doi: 10.1038/s41598-021-94784-3

PMCID:: PMC8319425

Article PDF–12M

Select item 79766303.

Pituitary Hypoplasia in Patients with a Mutation in the Growth hormone–releasing Hormone Receptor Gene

Robert A. Murray, Hiralal G. Maheshwari, Eric J. Russell, Gerhard Baumann

AJNR Am J Neuroradiol. 2000 Apr; 21(4): 685–689.

PMCID:: PMC7976630

Article PDF–160K

Select item 66930934.

A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report

Binlu Zhu, Hong Jiang, Meiling Cao, Xueqi Zhao, Hongkun Jiang

BMC Med Genet. 2019; 20: 137. Published online 2019 Aug 13. doi: 10.1186/s12881-019-0869-9

PMCID:: PMC6693093

Article PDF–1.7M

Select item 60834765.

A Novel Variant c.97C>T of the Growth Hormone Releasing Hormone Receptor Gene Causes Isolated Growth Hormone Deficiency Type Ib

Assimina Galli-Tsinopoulou, Eleni P. Kotanidou, Aggeliki N. Kleisarchaki, Rivka Kauli, Zvi Laron

J Clin Res Pediatr Endocrinol. 2018 Sep; 10(3): 284–288. Published online 2018 Jul 31. doi: 10.4274/jcrpe.5188

PMCID:: PMC6083476

Article PDF–496K

Select item 56825666.

A surprising treatment response in a patient with rare isolated growth hormone deficiency, type IB

Jordan Yardain Amar, Kimberly Borden, Elizabeth Watson, Talin Arslanian

Endocrinol Diabetes Metab Case Rep. 2017; 2017: 17-0107. Published online 2017 Nov 9. doi: 10.1530/EDM-17-0107

PMCID:: PMC5682566

Article PDF–413K

Select item 45910687.

A novel cause for primordial dwarfism revealed: defective tRNA modification

Liudmila Filonava, Adrian Gabriel Torres, Lluis Ribas de Pouplana

Genome Biol. 2015; 16: 216. Published online 2015 Oct 1. doi: 10.1186/s13059-015-0786-y

PMCID:: PMC4591068

Article PDF–317K

Select item 43755378.

Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism

Jennie E. Murray, Mirjam van der Burg, Hanna IJspeert, Paula Carroll, Qian Wu, Takashi Ochi, Andrea Leitch, Edward S. Miller, Boris Kysela, Alireza Jawad, Armand Bottani, Francesco Brancati, Marco Cappa, Valerie Cormier-Daire, Charu Deshpande, Eissa A. Faqeih, Gail E. Graham, Emmanuelle Ranza, Tom L. Blundell, Andrew P. Jackson, Grant S. Stewart, Louise S. Bicknell

Am J Hum Genet. 2015 Mar 5; 96(3): 412–424. doi: 10.1016/j.ajhg.2015.01.013