158 related articles for article (PubMed ID: 21836370)
1. Establishment of diagnosis by bisulfite-treated methylation-specific PCR method and analysis of clinical characteristics of pseudohypoparathyroidism type 1b.
Kinoshita K; Minagawa M; Takatani T; Takatani R; Ohashi M; Kohno Y
Endocr J; 2011; 58(10):879-87. PubMed ID: 21836370
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib.
Weinhaeusel A; Thiele S; Hofner M; Hiort O; Noehammer C
Clin Chem; 2008 Sep; 54(9):1537-45. PubMed ID: 18617581
[TBL] [Abstract][Full Text] [Related]
4. Pseudohypoparathyroidism Type 1A-Subclinical Hypothyroidism and Rapid Weight Gain as Early Clinical Signs: A Clinical Review of 10 Cases.
Kayemba-Kay's S; Tripon C; Heron A; Hindmarsh P
J Clin Res Pediatr Endocrinol; 2016 Dec; 8(4):432-438. PubMed ID: 27467896
[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. 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]
7. Madelung-like deformity in pseudohypoparathyroidism type 1b.
Sanchez J; Perera E; Jan de Beur S; Ding C; Dang A; Berkovitz GD; Levine MA
J Clin Endocrinol Metab; 2011 Sep; 96(9):E1507-11. PubMed ID: 21752878
[TBL] [Abstract][Full Text] [Related]
8. Case report of GNAS epigenetic defect revealed by a congenital hypothyroidism.
Romanet P; Osei L; Netchine I; Pertuit M; Enjalbert A; Reynaud R; Barlier A
Pediatrics; 2015 Apr; 135(4):e1079-83. PubMed ID: 25802348
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.
Goto M; Yamamoto Y; Ishii M; Nakamura A; Sano S; Kagami M; Fukami M; Saito R; Araki S; Kubo K; Kawagoe R; Kawada Y; Kusuhara K
Pediatr Int; 2016 Nov; 58(11):1229-1231. PubMed ID: 27882740
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b.
Maupetit-Méhouas S; Azzi S; Steunou V; Sakakini N; Silve C; Reynes C; Perez de Nanclares G; Keren B; Chantot S; Barlier A; Linglart A; Netchine I
Hum Mutat; 2013 Aug; 34(8):1172-80. PubMed ID: 23649963
[TBL] [Abstract][Full Text] [Related]
13. Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1.
Jan de Beur S; Ding C; Germain-Lee E; Cho J; Maret A; Levine MA
Am J Hum Genet; 2003 Aug; 73(2):314-22. PubMed ID: 12858292
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.
Cho SY; Yoon YA; Ki CS; Huh HJ; Yoo HW; Lee BH; Kim GH; Yoo JH; Kim SY; Kim SJ; Sohn YB; Park SW; Huh R; Chang MS; Lee J; Kwun Y; Maeng SH; Jin DK
Exp Clin Endocrinol Diabetes; 2013 Oct; 121(9):539-45. PubMed ID: 24127307
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b.
Nakamura A; Hamaguchi E; Horikawa R; Nishimura Y; Matsubara K; Sano S; Nagasaki K; Matsubara Y; Umezawa A; Tajima T; Ogata T; Kagami M; Okamura K; Fukami M
J Clin Endocrinol Metab; 2016 Jul; 101(7):2623-7. PubMed ID: 27253667
[TBL] [Abstract][Full Text] [Related]
18. Abnormal Methylation Status of the GNAS Exon 1A Region in Pseudohypohyperparathyroidism Combined With Turner Syndrome.
Zhu J; Wang D; Ren A; Xing Y; Zhang D; Wei J; Yu N; Xing X; Ye S
Am J Med Sci; 2015 Dec; 350(6):458-62. PubMed ID: 26488942
[TBL] [Abstract][Full Text] [Related]
19. Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.
Rochtus A; Martin-Trujillo A; Izzi B; Elli F; Garin I; Linglart A; Mantovani G; Perez de Nanclares G; Thiele S; Decallonne B; Van Geet C; Monk D; Freson K
Clin Epigenetics; 2016; 8():10. PubMed ID: 26819647
[TBL] [Abstract][Full Text] [Related]
20. Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification.
Nagasaki K; Tsuchiya S; Saitoh A; Ogata T; Fukami M
Endocr J; 2013; 60(2):231-6. PubMed ID: 23095209
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]