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Similar articles for PubMed (Select 9751745)

1.

The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.

Jüppner H, Schipani E, Bastepe M, Cole DE, Lawson ML, Mannstadt M, Hendy GN, Plotkin H, Koshiyama H, Koh T, Crawford JD, Olsen BR, Vikkula M.

Proc Natl Acad Sci U S A. 1998 Sep 29;95(20):11798-803.

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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.

5.

Pseudohypoparathyroidism. New insights into an old disease.

Bastepe M, Jüppner H.

Endocrinol Metab Clin North Am. 2000 Sep;29(3):569-89. Review.

PMID:
11033761
6.

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.

7.

GNAS locus and pseudohypoparathyroidism.

Bastepe M, Jüppner H.

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

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9.

The GNAS locus and pseudohypoparathyroidism.

Bastepe M.

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

PMID:
18372789
10.

Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib.

Turan S, Akin L, Akcay T, Adal E, Sarikaya S, Bastepe M, Jüppner H.

Eur J Endocrinol. 2010 Sep;163(3):489-93. doi: 10.1530/EJE-10-0348. Epub 2010 Jun 10.

12.

The pseudohypoparathyroidism type lb locus is linked to a region including GNAS1 at 20q13.3.

Jan De Beur SM, O'Connell JR, Peila R, Cho J, Deng Z, Kam S, Levine MA.

J Bone Miner Res. 2003 Mar;18(3):424-33.

PMID:
12619926
13.

New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism.

Fernández-Rebollo E, Lecumberri B, Garin I, Arroyo J, Bernal-Chico A, Goñi F, Orduña R; Spanish PHP Group, Castaño L, de Nanclares GP.

Eur J Endocrinol. 2010 Dec;163(6):953-62. doi: 10.1530/EJE-10-0435. Epub 2010 Sep 13.

14.

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. doi: 10.1055/s-0032-1314842. Epub 2012 Jun 6. Review.

PMID:
22674477
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
16.

Recent advances in GNAS epigenetic research of pseudohypoparathyroidism.

Izzi B, Van Geet C, Freson K.

Curr Mol Med. 2012 Jun;12(5):566-73. Review.

PMID:
22300135
17.

Pseudohypoparathyroidism 1b: exclusion of parathyroid hormone and its receptors as candidate disease genes.

Jan de Beur SM, Ding CL, LaBuda MC, Usdin TB, Levine MA.

J Clin Endocrinol Metab. 2000 Jun;85(6):2239-46.

PMID:
10852457
18.

Cloning and characterization of kidney-specific promoter of human PTH/PTHrP receptor gene: absence of mutation in patients with pseudohypoparathyroidism type Ib.

Fukumoto S, Suzawa M, Kikuchi T, Matsumoto T, Kato S, Fujita T.

Mol Cell Endocrinol. 1998 Jun 25;141(1-2):41-7.

PMID:
9723884
19.

Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene.

Schipani E, Weinstein LS, Bergwitz C, Iida-Klein A, Kong XF, Stuhrmann M, Kruse K, Whyte MP, Murray T, Schmidtke J, et al.

J Clin Endocrinol Metab. 1995 May;80(5):1611-21.

PMID:
7745008
20.

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. Epub 2005 Mar 30. Erratum in: Am J Hum Genet. 2007 Jul;81(1):196.

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