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Items: 1 to 20 of 124

1.

Pseudohypoparathyroidism type Ia: a novel GNAS mutation in a Brazilian boy presenting with an early primary hypothyroidism.

Alves C, Sampaio S, Barbieri AM, Mantovani G.

J Pediatr Endocrinol Metab. 2013;26(5-6):557-60. doi: 10.1515/jpem-2012-0301.

PMID:
23412865
2.

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.

3.

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.

PMID:
21823526
4.

Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.

Elli FM, deSanctis L, Ceoloni B, Barbieri AM, Bordogna P, Beck-Peccoz P, Spada A, Mantovani G.

Hum Mutat. 2013 Mar;34(3):411-6. doi: 10.1002/humu.22265. Epub 2013 Jan 18.

5.

A pseudohypoparathyroidism type Ia patient with normocalcemia.

Tamada Y, Kanda S, Suzuki H, Tajima T, Nishiyama T.

Endocr J. 2008 Mar;55(1):169-73. Epub 2008 Feb 4.

6.

Long-term follow-up of a pseudohypoparathyroidism type 1A patient with missense mutation (Pro115Ser) in exon 5.

Savaş Erdeve Ş, Berberoğlu M, Şıklar Z, Evliyaoğlu O, Hiort O, Öcal G.

J Clin Res Pediatr Endocrinol. 2010;2(2):85-8. doi: 10.4274/jcrpe.v2i2.85. Epub 2010 May 7.

7.

A novel mutation in a case of pseudohypoparathyroidism type Ia.

Kırel B, Demiral M, Bozdağ Ö, Karaer K.

Turk J Pediatr. 2016;58(1):101-105.

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. doi: 10.1542/peds.2014-2806.

9.

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.

10.

Identification of a novel GNAS mutation for pseudohypoparathyroidism in a Chinese family.

Sun LH, Cui B, Zhao HY, Tao B, Wang WQ, Li XY, Ning G, Liu JM.

Endocrine. 2009 Aug;36(1):25-9. doi: 10.1007/s12020-009-9193-z. Epub 2009 Apr 21.

PMID:
19381884
11.

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. doi: 10.1210/jc.2009-1581. Epub 2009 Dec 11.

12.

Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy.

Lin MH, Numbenjapon N, Germain-Lee EL, Pitukcheewanont P.

J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):911-8. doi: 10.1515/jpem-2014-0435.

PMID:
25894639
13.

GNAS locus and pseudohypoparathyroidism.

Bastepe M, Jüppner H.

Horm Res. 2005;63(2):65-74. Epub 2005 Feb 9. Review.

PMID:
15711092
14.

Pseudohypoparathyroidism type 1a with congenital hypothyroidism.

Pinsker JE, Rogers W, McLean S, Schaefer FV, Fenton C.

J Pediatr Endocrinol Metab. 2006 Aug;19(8):1049-52.

PMID:
16995592
15.

Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene.

Şahin S, Hiort O, Thiele S, Evliyaoğlu O, Tüysüz B.

J Clin Res Pediatr Endocrinol. 2017 Mar 1;9(1):74-79. doi: 10.4274/jcrpe.3191. Epub 2016 Jul 18.

16.

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. doi: 10.1055/s-0033-1349867. Epub 2013 Oct 14.

PMID:
24127307
17.

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. doi: 10.1111/j.1365-2265.2011.04026.x.

PMID:
21521295
18.

Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state.

Freson K, Izzi B, Jaeken J, Van Helvoirt M, Thys C, Wittevrongel C, de Zegher F, Van Geet C.

J Clin Endocrinol Metab. 2008 Dec;93(12):4844-9. doi: 10.1210/jc.2008-0233. Epub 2008 Sep 16.

PMID:
18796523
19.

New mutation type in pseudohypoparathyroidism type Ia.

Fernandez-Rebollo E, Barrio R, Pérez-Nanclares G, Carcavilla A, Garin I, Castaño L, de Nanclares GP.

Clin Endocrinol (Oxf). 2008 Nov;69(5):705-12. doi: 10.1111/j.1365-2265.2008.03255.x. Epub 2008 Apr 3.

PMID:
18394017
20.

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.

Lecumberri B, Fernández-Rebollo E, Sentchordi L, Saavedra P, Bernal-Chico A, Pallardo LF, Bustos JM, Castaño L, de Santiago M, Hiort O, Pérez de Nanclares G, Bastepe M.

J Med Genet. 2010 Apr;47(4):276-80. doi: 10.1136/jmg.2009.071001. Epub 2009 Oct 26.

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