181 related articles for article (PubMed ID: 31886927)
1. Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations.
Snanoudj S; Molin A; Colson C; Coudray N; Paulien S; Mittre H; Gérard M; Schaefer E; Goldenberg A; Bacchetta J; Odent S; Naudion S; Demeer B; Faivre L; Gruchy N; Kottler ML; Richard N
J Bone Miner Res; 2020 May; 35(5):913-919. PubMed ID: 31886927
[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. Preferential Maternal Transmission of STX16-GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B): Another Example of Transmission Ratio Distortion.
Kiuchi Z; Reyes M; Jüppner H
J Bone Miner Res; 2021 Apr; 36(4):696-703. PubMed ID: 33247854
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI.
Salemi P; Skalamera Olson JM; Dickson LE; Germain-Lee EL
J Clin Endocrinol Metab; 2018 Jan; 103(1):158-168. PubMed ID: 29059381
[TBL] [Abstract][Full Text] [Related]
6. Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity.
Hanna P; Grybek V; Perez de Nanclares G; Tran LC; de Sanctis L; Elli F; Errea J; Francou B; Kamenicky P; Linglart L; Pereda A; Rothenbuhler A; Tessaris D; Thiele S; Usardi A; Shoemaker AH; Kottler ML; Jüppner H; Mantovani G; Linglart A
J Bone Miner Res; 2018 Aug; 33(8):1480-1488. PubMed ID: 29693731
[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. 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]
9. 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]
10. Pseudohypoparathyroidism: complex disease variants with unfortunate names.
Jüppner H
J Mol Endocrinol; 2024 Jan; 72(1):. PubMed ID: 37965945
[TBL] [Abstract][Full Text] [Related]
11. Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia.
Long XD; Xiong J; Mo ZH; Dong CS; Jin P
BMC Med Genet; 2018 Jul; 19(1):132. PubMed ID: 30060753
[TBL] [Abstract][Full Text] [Related]
12. Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity.
Long DN; McGuire S; Levine MA; Weinstein LS; Germain-Lee EL
J Clin Endocrinol Metab; 2007 Mar; 92(3):1073-9. PubMed ID: 17164301
[TBL] [Abstract][Full Text] [Related]
13. GNAS locus and pseudohypoparathyroidism.
Bastepe M; Jüppner H
Horm Res; 2005; 63(2):65-74. PubMed ID: 15711092
[TBL] [Abstract][Full Text] [Related]
14. Different AHO phenotype in a Chinese family with a novel GNAS missense variant: a case report.
Zhou Q; Liang B; Fu QX; Liu H; Zou CC
Ital J Pediatr; 2022 Jul; 48(1):123. PubMed ID: 35871092
[TBL] [Abstract][Full Text] [Related]
15. Pseudohypoparathyroidism: one gene, several syndromes.
Tafaj O; Jüppner H
J Endocrinol Invest; 2017 Apr; 40(4):347-356. PubMed ID: 27995443
[TBL] [Abstract][Full Text] [Related]
16. Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion.
Takatani R; Molinaro A; Grigelioniene G; Tafaj O; Watanabe T; Reyes M; Sharma A; Singhal V; Raymond FL; Linglart A; Jüppner H
J Bone Miner Res; 2016 Apr; 31(4):796-805. PubMed ID: 26479409
[TBL] [Abstract][Full Text] [Related]
17. Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans.
Lebrun M; Richard N; Abeguilé G; David A; Coëslier Dieux A; Journel H; Lacombe D; Pinto G; Odent S; Salles JP; Taieb A; Gandon-Laloum S; Kottler ML
J Clin Endocrinol Metab; 2010 Jun; 95(6):3028-38. PubMed ID: 20427508
[TBL] [Abstract][Full Text] [Related]
18. A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B.
Reyes M; Karaca A; Bastepe M; Gulcelik NE; Jüppner H
Bone; 2017 Oct; 103():281-286. PubMed ID: 28711660
[TBL] [Abstract][Full Text] [Related]
19. The GNAS locus and pseudohypoparathyroidism.
Bastepe M
Adv Exp Med Biol; 2008; 626():27-40. PubMed ID: 18372789
[TBL] [Abstract][Full Text] [Related]
20. A novel GNAS mutation inherited from probable maternal mosaicism causes two siblings with pseudohypoparathyroidism type 1A.
Wang Q; Xian J; Chen P; Wang J; Gao Y; Zheng X; Tan Z; Li C; Zeng K
J Pediatr Endocrinol Metab; 2020 Sep; 33(9):1219-1224. PubMed ID: 32866120
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]