Citations for
1PHP1B, STX16
Osteosclerosis in two brothers with autosomal dominant pseudohypoparathyroidism type 1b: bone histomorphometric analysis.
Sbrocchi AM, Rauch F, Lawson ML, Hadjiyannakis S, Lawrence S, Bastepe M, Jüppner H, Ward LM.
Eur J Endocrinol 164(2):295-301. Epub 2010 Nov 9. 2011
2GNAS, PHP1B
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 48(1):55-63. Epub 2010 Oct 23. 2011
3GNAS, PHP1A, PHP1B
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 95(2):765-71. Epub 2009 Dec 11. 2010
4GNAS, PHP1A, PHP1B
Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients.
Mantovani G, de Sanctis L, Barbieri AM, Elli FM, Bollati V, Vaira V, Labarile P, Bondioni S, Peverelli E, Lania AG, Beck-Peccoz P, Spada A.
J Clin Endocrinol Metab 95(2):651-8. Epub 2010 Jan 8.PMID: 20061437 2010
5GNAS, PHP1B
A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.
Mariot V, Maupetit-MŽhouas S, Sinding C, Kottler ML, Linglart A.
J Clin Endocrinol Metab 93(3):661-5. Epub 2008 Jan 8. 2008
6GNAS, PHP1A, PHP1B, PHP1C
Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy.
de Nanclares GP, Fernández-Rebollo E, Santin I, García-Cuartero B, Gaztambide S, Menéndez E, Morales MJ, Pombo M, Bilbao JR, Barros F, Zazo N, Ahrens W, Jüppner H, Hiort O, Castaño L, Bastepe M.
J Clin Endocrinol Metab 92(6):2370-3. Epub 2007 Apr 3. 2007
7GNAS, STX16, PHP1A, PHP1B
Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism.
Juppner H, Bastepe M.
J Pediatr Endocrinol Metab 19 Suppl 2:641-6. Review. 2006
8GNAS, STX16, PHP1B
Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB.
Liu J, Nealon JG, Weinstein LS.
Hum Mol Genet 14(1):95-102. Epub 2004 Nov 10. 2005
9STX16, PHP1B
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, Juppner H, Bastepe M.
Am J Hum Genet 76(5):804-14. Epub 2005 Mar 30. 2005
10GNAS, PHP1B
Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.
Bastepe M, Frohlich LF, Hendy GN, Indridason OS, Josse RG, Koshiyama H, Korkko J, Nakamoto JM, Rosenbloom AL, Slyper AH, Sugimoto T, Tsatsoulis A, Crawford JD, Juppner H.
J Clin Invest 112(8):1255-63. 2003
11GNAS, PHP1B
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 11(22):2741-50. 2002
12GNAS, GNASAS, PHP1B, XLAS
Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus.
Bastepe M, Pincus JE, Sugimoto T, Tojo K, Kanatani M, Azuma Y, Kruse K, Rosenbloom AL, Koshiyama H, Juppner H.
Hum Mol Genet 10(12):1231-41. 2001
13PHP1B, GNAS
The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.
JŸppner H, et al.
Proc Natl Acad Sci U S A 95 : 11798-11803. 1998