174 related articles for article (PubMed ID: 31041856)
1. Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders.
Truelove A; Mulay A; Prapa M; Casey RT; Adler AI; Offiah AC; Poole KES; Trotman J; Al Hasso N; Park SM
Am J Med Genet A; 2019 Jul; 179(7):1330-1337. PubMed ID: 31041856
[TBL] [Abstract][Full Text] [Related]
2. Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.
Turan S
J Clin Res Pediatr Endocrinol; 2017 Dec; 9(Suppl 2):58-68. PubMed ID: 29280743
[TBL] [Abstract][Full Text] [Related]
3. [Genes in the cAMP pathway causing skeletal dysplasia with or without hormonal resistance].
Silve C
Biol Aujourdhui; 2016; 210(3):167-170. PubMed ID: 27813477
[TBL] [Abstract][Full Text] [Related]
4. PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.
Linglart A; Fryssira H; Hiort O; Holterhus PM; Perez de Nanclares G; Argente J; Heinrichs C; Kuechler A; Mantovani G; Leheup B; Wicart P; Chassot V; Schmidt D; Rubio-Cabezas Ó; Richter-Unruh A; Berrade S; Pereda A; Boros E; Muñoz-Calvo MT; Castori M; Gunes Y; Bertrand G; Bougnères P; Clauser E; Silve C
J Clin Endocrinol Metab; 2012 Dec; 97(12):E2328-38. PubMed ID: 23043190
[TBL] [Abstract][Full Text] [Related]
5. PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance.
Nagasaki K; Iida T; Sato H; Ogawa Y; Kikuchi T; Saitoh A; Ogata T; Fukami M
J Clin Endocrinol Metab; 2012 Sep; 97(9):E1808-13. PubMed ID: 22723333
[TBL] [Abstract][Full Text] [Related]
6. Pseudohypoparathyroidism type Ib in 2015.
Mantovani G; Elli FM
Ann Endocrinol (Paris); 2015 May; 76(2):101-4. PubMed ID: 25910998
[TBL] [Abstract][Full Text] [Related]
7. Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism.
Elli FM; Bordogna P; de Sanctis L; Giachero F; Verrua E; Segni M; Mazzanti L; Boldrin V; Toromanovic A; Spada A; Mantovani G
J Bone Miner Res; 2016 Jun; 31(6):1215-24. PubMed ID: 26763073
[TBL] [Abstract][Full Text] [Related]
8. Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.
Mitsui T; Kim OH; Hall CM; Offiah A; Johnson D; Jin DK; Toh TH; Soneda S; Keino D; Matsubayashi S; Ishii T; Nishimura G; Hasegawa T
Am J Med Genet A; 2014 Oct; 164A(10):2529-34. PubMed ID: 25044890
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Pseudohypoparathyroidism.
Cianferotti L; Brandi ML
Minerva Endocrinol; 2018 Jun; 43(2):156-167. PubMed ID: 29125274
[TBL] [Abstract][Full Text] [Related]
11. Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.
Mantovani G; Spada A; Elli FM
Nat Rev Endocrinol; 2016 Jun; 12(6):347-56. PubMed ID: 27109785
[TBL] [Abstract][Full Text] [Related]
12. GNAS locus and pseudohypoparathyroidism.
Bastepe M; Jüppner H
Horm Res; 2005; 63(2):65-74. PubMed ID: 15711092
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.
Thiele S; Mantovani G; Barlier A; Boldrin V; Bordogna P; De Sanctis L; Elli FM; Freson K; Garin I; Grybek V; Hanna P; Izzi B; Hiort O; Lecumberri B; Pereda A; Saraff V; Silve C; Turan S; Usardi A; Werner R; de Nanclares GP; Linglart A
Eur J Endocrinol; 2016 Dec; 175(6):P1-P17. PubMed ID: 27401862
[TBL] [Abstract][Full Text] [Related]
15. Acrodysostosis.
Silve C; Clauser E; Linglart A
Horm Metab Res; 2012 Sep; 44(10):749-58. PubMed ID: 22815067
[TBL] [Abstract][Full Text] [Related]
16. The GNAS locus and pseudohypoparathyroidism.
Bastepe M
Adv Exp Med Biol; 2008; 626():27-40. PubMed ID: 18372789
[TBL] [Abstract][Full Text] [Related]
17. Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients.
Mantovani G; de Sanctis L; Barbieri AM; Elli FM; Bollati V; Vaira V; Labarile P; Bondioni S; Peverelli E; Lania AG; Beck-Peccoz P; Spada A
J Clin Endocrinol Metab; 2010 Feb; 95(2):651-8. PubMed ID: 20061437
[TBL] [Abstract][Full Text] [Related]
18. Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with pseudohypoparathyroidism type I and GNAS epigenetic alterations.
Elli FM; de Sanctis L; Bollati V; Tarantini L; Filopanti M; Barbieri AM; Peverelli E; Beck-Peccoz P; Spada A; Mantovani G
J Clin Endocrinol Metab; 2014 Mar; 99(3):E508-17. PubMed ID: 24423294
[TBL] [Abstract][Full Text] [Related]
19. Familial Albright's hereditary osteodystrophy with hypoparathyroidism: normal structural Gs alpha gene.
Shapira H; Friedman E; Mouallem M; Farfel Z
J Clin Endocrinol Metab; 1996 Apr; 81(4):1660-2. PubMed ID: 8636385
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
