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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 7, 2023. (Total: 217722Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Pseudopseudohypoparathyroidism and GNAS[original query]
No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.
Journal of human genetics 2012 Apr 57 (4): 277-9.
Izzi Benedetta, de Zegher Francis, Francois Inge, del Favero Jurgen, Goossens Dirk, Wittevrongel Christine, Thys Chantal, Van Geet Chris, Freson Kathle
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
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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