265 related articles for article (PubMed ID: 17651445)
1. Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus.
Linglart A; Bastepe M; Jüppner H
Clin Endocrinol (Oxf); 2007 Dec; 67(6):822-31. PubMed ID: 17651445
[TBL] [Abstract][Full Text] [Related]
2. Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16.
Fröhlich LF; Bastepe M; Ozturk D; Abu-Zahra H; Jüppner H
Endocrinology; 2007 Jun; 148(6):2925-35. PubMed ID: 17317779
[TBL] [Abstract][Full Text] [Related]
3. Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.
Bastepe M; Fröhlich LF; Hendy GN; Indridason OS; Josse RG; Koshiyama H; Körkkö J; Nakamoto JM; Rosenbloom AL; Slyper AH; Sugimoto T; Tsatsoulis A; Crawford JD; Jüppner H
J Clin Invest; 2003 Oct; 112(8):1255-63. PubMed ID: 14561710
[TBL] [Abstract][Full Text] [Related]
4. Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?
Fernández-Rebollo E; Pérez de Nanclares G; Lecumberri B; Turan S; Anda E; Pérez-Nanclares G; Feig D; Nik-Zainal S; Bastepe M; Jüppner H
J Bone Miner Res; 2011 Aug; 26(8):1854-63. PubMed ID: 21523828
[TBL] [Abstract][Full Text] [Related]
5. Genetic and epigenetic states of the GNAS complex in pseudohypoparathyroidism type Ib using methylation-specific multiplex ligation-dependent probe amplification assay.
Yuno A; Usui T; Yambe Y; Higashi K; Ugi S; Shinoda J; Mashio Y; Shimatsu A
Eur J Endocrinol; 2013 Feb; 168(2):169-75. PubMed ID: 23132697
[TBL] [Abstract][Full Text] [Related]
6. Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib.
Maupetit-Méhouas S; Mariot V; Reynès C; Bertrand G; Feillet F; Carel JC; Simon D; Bihan H; Gajdos V; Devouge E; Shenoy S; Agbo-Kpati P; Ronan A; Naud-Saudreau C; Lienhardt A; Silve C; Linglart A
J Med Genet; 2011 Jan; 48(1):55-63. PubMed ID: 20972248
[TBL] [Abstract][Full Text] [Related]
7. Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance.
Laspa E; Bastepe M; Jüppner H; Tsatsoulis A
J Clin Endocrinol Metab; 2004 Dec; 89(12):5942-7. PubMed ID: 15579741
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib).
Molinaro A; Tiosano D; Takatani R; Chrysis D; Russell W; Koscielniak N; Kottler ML; Agretti P; De Marco G; Ahtiainen P; Christov M; Mäkitie O; Tonacchera M; Jüppner H
J Bone Miner Res; 2015 May; 30(5):906-12. PubMed ID: 25403028
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus.
Jüppner H; Linglart A; Fröhlich LF; Bastepe M
Ann N Y Acad Sci; 2006 Apr; 1068():250-5. PubMed ID: 16831926
[TBL] [Abstract][Full Text] [Related]
12. The GNAS locus and pseudohypoparathyroidism.
Bastepe M
Adv Exp Med Biol; 2008; 626():27-40. PubMed ID: 18372789
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.
Linglart A; Gensure RC; Olney RC; Jüppner H; Bastepe M
Am J Hum Genet; 2005 May; 76(5):804-14. PubMed ID: 15800843
[TBL] [Abstract][Full Text] [Related]
15. Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus.
Perez-Nanclares G; Velayos T; Vela A; Muñoz-Torres M; Castaño L
PLoS One; 2015; 10(2):e0117691. PubMed ID: 25710380
[TBL] [Abstract][Full Text] [Related]
16. Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B.
Fernandez-Rebollo E; García-Cuartero B; Garin I; Largo C; Martínez F; Garcia-Lacalle C; Castaño L; Bastepe M; Pérez de Nanclares G
J Clin Endocrinol Metab; 2010 Feb; 95(2):765-71. PubMed ID: 20008020
[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. 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]
19. A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.
Mariot V; Maupetit-Méhouas S; Sinding C; Kottler ML; Linglart A
J Clin Endocrinol Metab; 2008 Mar; 93(3):661-5. PubMed ID: 18182455
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]