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Results: 1 to 20 of 122

1.

The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B.

Liu J, Erlichman B, Weinstein LS.

J Clin Endocrinol Metab. 2003 Sep;88(9):4336-41.

PMID:
12970307
[PubMed - indexed for MEDLINE]
2.

Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a.

Germain-Lee EL, Ding CL, Deng Z, Crane JL, Saji M, Ringel MD, Levine MA.

Biochem Biophys Res Commun. 2002 Aug 9;296(1):67-72.

PMID:
12147228
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib.

Wu WI, Schwindinger WF, Aparicio LF, Levine MA.

J Biol Chem. 2001 Jan 5;276(1):165-71.

PMID:
11029463
[PubMed - indexed for MEDLINE]
Free Article
6.

Minireview: GNAS: normal and abnormal functions.

Weinstein LS, Liu J, Sakamoto A, Xie T, Chen M.

Endocrinology. 2004 Dec;145(12):5459-64. Epub 2004 Aug 26. Review.

PMID:
15331575
[PubMed - indexed for MEDLINE]
7.

[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. Epub 2009 Nov 25. Review. French.

PMID:
19942373
[PubMed - indexed for MEDLINE]
8.

A mouse model of albright hereditary osteodystrophy generated by targeted disruption of exon 1 of the Gnas gene.

Germain-Lee EL, Schwindinger W, Crane JL, Zewdu R, Zweifel LS, Wand G, Huso DL, Saji M, Ringel MD, Levine MA.

Endocrinology. 2005 Nov;146(11):4697-709. Epub 2005 Aug 11.

PMID:
16099856
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

A GNAS1 imprinting defect in pseudohypoparathyroidism type IB.

Liu J, Litman D, Rosenberg MJ, Yu S, Biesecker LG, Weinstein LS.

J Clin Invest. 2000 Nov;106(9):1167-74.

PMID:
11067869
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

An update on the clinical and molecular characteristics of pseudohypoparathyroidism.

Levine MA.

Curr Opin Endocrinol Diabetes Obes. 2012 Dec;19(6):443-51. doi: 10.1097/MED.0b013e32835a255c. Review.

PMID:
23076042
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity.

Long DN, McGuire S, Levine MA, Weinstein LS, Germain-Lee EL.

J Clin Endocrinol Metab. 2007 Mar;92(3):1073-9. Epub 2006 Dec 12.

PMID:
17164301
[PubMed - indexed for MEDLINE]
13.

A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency.

Thiele S, Werner R, Ahrens W, Hoppe U, Marschke C, Staedt P, Hiort O.

J Clin Endocrinol Metab. 2007 May;92(5):1764-8. Epub 2007 Feb 13.

PMID:
17299070
[PubMed - indexed for MEDLINE]
14.

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. doi: 10.1210/jc.2007-0927. Epub 2008 Jan 8.

PMID:
18182455
[PubMed - indexed for MEDLINE]
15.

Genetic basis for resistance to parathyroid hormone.

Levine MA, Germain-Lee E, Jan de Beur S.

Horm Res. 2003;60 Suppl 3:87-95. Review.

PMID:
14671404
[PubMed - indexed for MEDLINE]
16.

Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance.

Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, Levine MA.

J Clin Endocrinol Metab. 2003 Sep;88(9):4059-69.

PMID:
12970262
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
18.

Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism.

Bastepe M, Lane AH, Jüppner H.

Am J Hum Genet. 2001 May;68(5):1283-9. Epub 2001 Apr 9.

PMID:
11294659
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type ia: new evidence for imprinting of the Gs alpha gene.

Mantovani G, Maghnie M, Weber G, De Menis E, Brunelli V, Cappa M, Loli P, Beck-Peccoz P, Spada A.

J Clin Endocrinol Metab. 2003 Sep;88(9):4070-4.

PMID:
12970263
[PubMed - indexed for MEDLINE]
20.

The GNAS locus and pseudohypoparathyroidism.

Bastepe M.

Adv Exp Med Biol. 2008;626:27-40. Review.

PMID:
18372789
[PubMed - indexed for MEDLINE]

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