169 related articles for article (PubMed ID: 37249323)
1. GNAS gene mutations affecting XLαs and bone health: A long neglected relationship.
Xie Y; Chen X; Xie Y; Yu X
Clin Genet; 2023 Sep; 104(3):279-286. PubMed ID: 37249323
[TBL] [Abstract][Full Text] [Related]
2. [Paternal GNAS mutations: Which phenotypes? What genetic counseling?].
Kottler ML
Ann Endocrinol (Paris); 2015 May; 76(2):105-9. PubMed ID: 25952723
[TBL] [Abstract][Full Text] [Related]
3. GNAS mutations and heterotopic ossification.
Bastepe M
Bone; 2018 Apr; 109():80-85. PubMed ID: 28889026
[TBL] [Abstract][Full Text] [Related]
4. Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children.
Chang G; Li Q; Li N; Li G; Li J; Ding Y; Huang X; Shen Y; Wang J; Wang X
BMC Endocr Disord; 2022 Mar; 22(1):70. PubMed ID: 35296306
[TBL] [Abstract][Full Text] [Related]
5. The GNAS locus and pseudohypoparathyroidism.
Bastepe M
Adv Exp Med Biol; 2008; 626():27-40. PubMed ID: 18372789
[TBL] [Abstract][Full Text] [Related]
6. Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.
Izzi B; Francois I; Labarque V; Thys C; Wittevrongel C; Devriendt K; Legius E; Van den Bruel A; D'Hooghe M; Lambrechts D; de Zegher F; Van Geet C; Freson K
PLoS One; 2012; 7(6):e38579. PubMed ID: 22679513
[TBL] [Abstract][Full Text] [Related]
7. GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.
Lemos MC; Thakker RV
Hum Mutat; 2015 Jan; 36(1):11-9. PubMed ID: 25219572
[TBL] [Abstract][Full Text] [Related]
8. Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3',5'-monophosphate formation mediated by human XLalphas.
Linglart A; Mahon MJ; Kerachian MA; Berlach DM; Hendy GN; Jüppner H; Bastepe M
Endocrinology; 2006 May; 147(5):2253-62. PubMed ID: 16484323
[TBL] [Abstract][Full Text] [Related]
9. GNAS locus and pseudohypoparathyroidism.
Bastepe M; Jüppner H
Horm Res; 2005; 63(2):65-74. PubMed ID: 15711092
[TBL] [Abstract][Full Text] [Related]
10. Clinical and Molecular Characteristics of GNAS Inactivation Disorders Observed in 18 Korean Patients.
Han SR; Lee YA; Shin CH; Yang SW; Lim BC; Cho TJ; Ko JM
Exp Clin Endocrinol Diabetes; 2021 Feb; 129(2):118-125. PubMed ID: 31546270
[TBL] [Abstract][Full Text] [Related]
11. Selective deficiency of Gsalpha and the possible role of alternative gene products of GNAS in Albright hereditary osteodystrophy and pseudohypoparathyroidism type Ia.
Thiele S; Werner R; Ahrens W; Hübner A; Hinkel KG; Höppner W; Igl B; Hiort O
Exp Clin Endocrinol Diabetes; 2010 Feb; 118(2):127-32. PubMed ID: 19658058
[TBL] [Abstract][Full Text] [Related]
12. Pseudohypoparathyroidism: complex disease variants with unfortunate names.
Jüppner H
J Mol Endocrinol; 2024 Jan; 72(1):. PubMed ID: 37965945
[TBL] [Abstract][Full Text] [Related]
13. Molecular Definition of Pseudohypoparathyroidism Variants.
Jüppner H
J Clin Endocrinol Metab; 2021 May; 106(6):1541-1552. PubMed ID: 33529330
[TBL] [Abstract][Full Text] [Related]
14. Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus.
Zazo C; Thiele S; Martín C; Fernandez-Rebollo E; Martinez-Indart L; Werner R; Garin I; ; Hiort O; Perez de Nanclares G
J Bone Miner Res; 2011 Aug; 26(8):1864-70. PubMed ID: 21351142
[TBL] [Abstract][Full Text] [Related]
15. Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.
Richard N; Molin A; Coudray N; Rault-Guillaume P; Jüppner H; Kottler ML
J Clin Endocrinol Metab; 2013 Sep; 98(9):E1549-56. PubMed ID: 23884777
[TBL] [Abstract][Full Text] [Related]
16. Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.
Elli FM; deSanctis L; Ceoloni B; Barbieri AM; Bordogna P; Beck-Peccoz P; Spada A; Mantovani G
Hum Mutat; 2013 Mar; 34(3):411-6. PubMed ID: 23281139
[TBL] [Abstract][Full Text] [Related]
17. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy.
de Nanclares GP; Fernández-Rebollo E; Santin I; García-Cuartero B; Gaztambide S; Menéndez E; Morales MJ; Pombo M; Bilbao JR; Barros F; Zazo N; Ahrens W; Jüppner H; Hiort O; Castaño L; Bastepe M
J Clin Endocrinol Metab; 2007 Jun; 92(6):2370-3. PubMed ID: 17405843
[TBL] [Abstract][Full Text] [Related]
18. GNAS Spectrum of Disorders.
Turan S; Bastepe M
Curr Osteoporos Rep; 2015 Jun; 13(3):146-58. PubMed ID: 25851935
[TBL] [Abstract][Full Text] [Related]
19.
Yang W; Zuo Y; Zhang N; Wang K; Zhang R; Chen Z; He Q
Front Endocrinol (Lausanne); 2023; 14():1255864. PubMed ID: 37920253
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
