237 related articles for article (PubMed ID: 32647264)
21. Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.
De Sanctis L; Romagnolo D; Olivero M; Buzi F; Maghnie M; Scirè G; Crino A; Baroncelli GI; Salerno M; Di Maio S; Cappa M; Grosso S; Rigon F; Lala R; De Sanctis C; Dianzani I
Pediatr Res; 2003 May; 53(5):749-55. PubMed ID: 12621129
[TBL] [Abstract][Full Text] [Related]
22. What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.
Pereda A; Garin I; ; Perez de Nanclares G
BMC Med Genet; 2018 Mar; 19(1):32. PubMed ID: 29499646
[TBL] [Abstract][Full Text] [Related]
23. A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency.
Thiele S; Werner R; Ahrens W; Hoppe U; Marschke C; Staedt P; Hiort O
J Clin Endocrinol Metab; 2007 May; 92(5):1764-8. PubMed ID: 17299070
[TBL] [Abstract][Full Text] [Related]
24. GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets.
Freson K; Izzi B; Labarque V; Van Helvoirt M; Thys C; Wittevrongel C; Bex M; Bouillon R; Godefroid N; Proesmans W; de Zegher F; Jaeken J; Van Geet C
J Clin Endocrinol Metab; 2008 Dec; 93(12):4851-9. PubMed ID: 18812479
[TBL] [Abstract][Full Text] [Related]
25. No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.
Izzi B; de Zegher F; Francois I; del Favero J; Goossens D; Wittevrongel C; Thys C; Van Geet C; Freson K
J Hum Genet; 2012 Apr; 57(4):277-9. PubMed ID: 22277900
[TBL] [Abstract][Full Text] [Related]
26. Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.
Jin HY; Lee BH; Choi JH; Kim GH; Kim JK; Lee JH; Yu J; Yoo JH; Ko CW; Lim HH; Chung HR; Yoo HW
Clin Endocrinol (Oxf); 2011 Aug; 75(2):207-13. PubMed ID: 21521295
[TBL] [Abstract][Full Text] [Related]
27. GNAS mutations and heterotopic ossification.
Bastepe M
Bone; 2018 Apr; 109():80-85. PubMed ID: 28889026
[TBL] [Abstract][Full Text] [Related]
28. A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones.
Winter J; Hiort O; Hermanns P; Thiele S; Pohlenz J
J Pediatr Endocrinol Metab; 2011; 24(5-6):297-301. PubMed ID: 21823526
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification?
Mantovani G; Elli FM; Spada A
Horm Metab Res; 2012 Sep; 44(10):716-23. PubMed ID: 22674477
[TBL] [Abstract][Full Text] [Related]
31. Identification of a novel mutation in pseudohypoparathyroidism type Ia in a Chinese family: A case report.
Tang Y; Zheng F; Lin X; Pan Q; Li L; Li H
Medicine (Baltimore); 2020 May; 99(21):e19965. PubMed ID: 32481259
[TBL] [Abstract][Full Text] [Related]
32. A Novel GNAS Mutation in a Patient with Ia Pseudohypoparathyroidism (iPPSD2) Phenotype.
Gorbacheva A; Pogoda T; Bogdanov V; Zakharova V; Salimkhanov R; Eremkina A; Melnichenko G; Mokrysheva N
Genes (Basel); 2023 Jan; 14(2):. PubMed ID: 36833251
[TBL] [Abstract][Full Text] [Related]
33. Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene.
Riepe FG; Ahrens W; Krone N; Fölster-Holst R; Brasch J; Sippell WG; Hiort O; Partsch CJ
Eur J Endocrinol; 2005 Apr; 152(4):515-9. PubMed ID: 15817905
[TBL] [Abstract][Full Text] [Related]
34. A novel GNAS mutation in an infant boy with pseudohypoparathyroidism type Ia and normal serum calcium and phosphate levels.
Reis MT; Cattani A; Mendonca BB; Corrêa PH; Martin RM
Arq Bras Endocrinol Metabol; 2010 Nov; 54(8):728-31. PubMed ID: 21340160
[TBL] [Abstract][Full Text] [Related]
35. Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsalpha gene mutation.
Nakamoto JM; Sandstrom AT; Brickman AS; Christenson RA; Van Dop C
Am J Med Genet; 1998 May; 77(4):261-7. PubMed ID: 9600732
[TBL] [Abstract][Full Text] [Related]
36. Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes.
Grüters-Kieslich A; Reyes M; Sharma A; Demirci C; DeClue TJ; Lankes E; Tiosano D; Schnabel D; Jüppner H
J Clin Endocrinol Metab; 2017 Aug; 102(8):2670-2677. PubMed ID: 28453643
[TBL] [Abstract][Full Text] [Related]
37. [Different expression of the Asn264LysfsX35 mutation of the GNAS gene in a family with pseudohypoparathyroidism.].
de Arriba Muñoz A; Labarta Aizpún JI; Dehesa EM; Calvo MT; Pérez de Nanclares G; Ferrández-Longás A
An Pediatr (Barc); 2011 Feb; 74(2):116-21. PubMed ID: 21169072
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha.
Mouallem M; Shaharabany M; Weintrob N; Shalitin S; Nagelberg N; Shapira H; Zadik Z; Farfel Z
Clin Endocrinol (Oxf); 2008 Feb; 68(2):233-9. PubMed ID: 17803690
[TBL] [Abstract][Full Text] [Related]
40. A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).
Grigelioniene G; Nevalainen PI; Reyes M; Thiele S; Tafaj O; Molinaro A; Takatani R; Ala-Houhala M; Nilsson D; Eisfeldt J; Lindstrand A; Kottler ML; Mäkitie O; Jüppner H
J Bone Miner Res; 2017 Apr; 32(4):776-783. PubMed ID: 28084650
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
