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Items: 1 to 20 of 93

1.

Imprints of disease at GNAS1.

Lalande M.

J Clin Invest. 2001 Apr;107(7):793-4. Review. No abstract available.

PMID:
11285295
2.

[Pseudopseudohypoparathyroidism and genomic imprinting].

Minagawa M.

Clin Calcium. 2007 Aug;17(8):1229-33. Review. Japanese.

PMID:
17660620
3.

GNAS1 mutations and progressive osseous heteroplasia.

Farfel Z.

N Engl J Med. 2002 May 23;346(21):1669-71. No abstract available.

PMID:
12030264
4.

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.

PMID:
12858292
5.

Gs(alpha) mutations and imprinting defects in human disease.

Weinstein LS, Chen M, Liu J.

Ann N Y Acad Sci. 2002 Jun;968:173-97. Review.

PMID:
12119276
6.

Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins.

Hayward BE, Moran V, Strain L, Bonthron DT.

Proc Natl Acad Sci U S A. 1998 Dec 22;95(26):15475-80.

PMID:
9860993
7.

Mutations in the Gs alpha gene causing hormone resistance.

Mantovani G, Spada A.

Best Pract Res Clin Endocrinol Metab. 2006 Dec;20(4):501-13. Review.

PMID:
17161328
8.

The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins.

Hayward BE, Kamiya M, Strain L, Moran V, Campbell R, Hayashizaki Y, Bonthron DT.

Proc Natl Acad Sci U S A. 1998 Aug 18;95(17):10038-43.

PMID:
9707596
9.

[GNAS1 gene abnormality in pseudohypoparathyroidism I a].

Ozono K.

Clin Calcium. 2007 Aug;17(8):1214-9. Review. Japanese.

PMID:
17660618
10.

Parental origin of transcription from the human GNAS1 gene.

Campbell R, Gosden CM, Bonthron DT.

J Med Genet. 1994 Aug;31(8):607-14.

PMID:
7815417
11.

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.

PMID:
17803690
12.

Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting.

Weinstein LS, Yu S, Warner DR, Liu J.

Endocr Rev. 2001 Oct;22(5):675-705. Review.

PMID:
11588148
13.

Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly.

Hayward BE, Barlier A, Korbonits M, Grossman AB, Jacquet P, Enjalbert A, Bonthron DT.

J Clin Invest. 2001 Mar;107(6):R31-6.

PMID:
11254676
14.

Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets.

Freson K, Thys C, Wittevrongel C, Proesmans W, Hoylaerts MF, Vermylen J, Van Geet C.

Hum Mol Genet. 2002 Oct 15;11(22):2741-50.

PMID:
12374764
15.

Pseudopseudohypoparathyroidism.

Simpson C, Grove E, Houston BA.

Lancet. 2015 Mar 21;385(9973):1123. doi: 10.1016/S0140-6736(14)61640-8. No abstract available.

PMID:
25484027
16.

Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans.

Lebrun M, Richard N, Abeguilé G, David A, Coëslier Dieux A, Journel H, Lacombe D, Pinto G, Odent S, Salles JP, Taieb A, Gandon-Laloum S, Kottler ML.

J Clin Endocrinol Metab. 2010 Jun;95(6):3028-38. doi: 10.1210/jc.2009-1451.

PMID:
20427508
17.

Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy.

Yu D, Yu S, Schuster V, Kruse K, Clericuzio CL, Weinstein LS.

J Clin Endocrinol Metab. 1999 Sep;84(9):3254-9.

PMID:
10487696
18.

[Epigenetics and pseudohypoparathyroidism].

Richard N, Abéguilé G, Coudray N, Kottler ML.

Pathol Biol (Paris). 2010 Oct;58(5):367-71. doi: 10.1016/j.patbio.2009.09.007. Review. French.

PMID:
19942373
19.
20.

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.

PMID:
24127307

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