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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: May 27, 2023. (Total: 217315Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Pseudohypoparathyroidism and GNAS[original query]
Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.
American journal of medical genetics. Part A 2008 Jul 146A (14): 1788-96.
Adegbite NS, Xu M, Kaplan FS, Shore EM, Pignolo RJ
Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLas in fetal development.
The Journal of clinical endocrinology and metabolism 2013 Sep 98 (9): E1549-56.
Richard Nicolas, Molin Arnaud, Coudray Nadia, Rault-Guillaume Pauline, Jüppner Harald, Kottler Marie-Lau
Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.
The Journal of clinical endocrinology and metabolism 2013 May 98 (5): E996-1006.
Fernández-Rebollo Eduardo, Lecumberri Beatriz, Gaztambide Sonia, Martinez-Indart Lorea, Perez de Nanclares Guiomar, Castaño Luis,
Pseudohypoparathyroidism - epidemiology, mortality and risk of complications.
Clinical endocrinology 2015 Sep .
Underbjerg Line, Sikjaer Tanja, Mosekilde Leif, Rejnmark La
Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population.
Clinical endocrinology 2017 11 88 (2): 285-294.
Chu Xueying, Zhu Yan, Wang Ou, Nie Min, Quan Tingting, Xue Yu, Wang Wenbo, Jiang Yan, Li Mei, Xia Weibo, Xing Xiaopi
Molecular genetic analysis and growth hormone response in patients with syndromic short stature.
BMC medical genomics 2021 11 14 (1): 261.
Sun Huihui, Li Na, Wan Naij
Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the ?6 strand/?5 helix of Gs?, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families.
Bone reports 2022 11 17 101637.
Ohata Yasuhisa, Kakimoto Haruna, Seki Yuko, Ishihara Yasuki, Nakano Yukako, Yamamoto Kenichi, Takeyari Shinji, Fujiwara Makoto, Kitaoka Taichi, Takakuwa Satoshi, Kubota Takuo, Ozono Keiic
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