| 1 | PHP1B, STX16
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| Osteosclerosis in two brothers with autosomal dominant pseudohypoparathyroidism type 1b: bone histomorphometric analysis.
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| Sbrocchi AM, Rauch F, Lawson ML, Hadjiyannakis S, Lawrence S, Bastepe M, Jüppner H, Ward LM.
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| Eur J Endocrinol 164(2):295-301. Epub 2010 Nov 9.
2011
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| 2 | GNAS, PHP1B
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| Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib.
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| 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.
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| J Med Genet 48(1):55-63. Epub 2010 Oct 23.
2011
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| 3 | GNAS, PHP1A, PHP1B
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| 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.
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| Fernandez-Rebollo E, García-Cuartero B, Garin I, Largo C, Martínez F, Garcia-Lacalle C, Castaño L, Bastepe M, Pérez de Nanclares G.
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| J Clin Endocrinol Metab 95(2):765-71. Epub 2009 Dec 11.
2010
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| 4 | GNAS, PHP1A, PHP1B
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| Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients.
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| 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.
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| J Clin Endocrinol Metab 95(2):651-8. Epub 2010 Jan 8.PMID: 20061437 2010
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| 5 | GNAS, PHP1B
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| A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.
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| Mariot V, Maupetit-MŽhouas S, Sinding C, Kottler ML, Linglart A.
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| J Clin Endocrinol Metab 93(3):661-5. Epub 2008 Jan 8. 2008
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| 6 | GNAS, PHP1A, PHP1B, PHP1C
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| Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy.
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| 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.
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| J Clin Endocrinol Metab 92(6):2370-3. Epub 2007 Apr 3. 2007
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| 7 | GNAS, STX16, PHP1A, PHP1B
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| Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism.
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| Juppner H, Bastepe M.
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| J Pediatr Endocrinol Metab 19 Suppl 2:641-6. Review. 2006
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| 8 | GNAS, STX16, PHP1B
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| Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB.
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| Liu J, Nealon JG, Weinstein LS.
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| Hum Mol Genet 14(1):95-102. Epub 2004 Nov 10. 2005
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| 9 | STX16, PHP1B
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| A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.
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| Linglart A, Gensure RC, Olney RC, Juppner H, Bastepe M.
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| Am J Hum Genet 76(5):804-14. Epub 2005 Mar 30. 2005
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| 10 | GNAS, PHP1B
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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.
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| 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.
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| J Clin Invest 112(8):1255-63. 2003
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| 11 | GNAS, PHP1B
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| Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets.
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| Freson K, Thys C, Wittevrongel C, Proesmans W, Hoylaerts MF, Vermylen J, Van Geet C.
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| Hum Mol Genet 11(22):2741-50. 2002
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| 12 | GNAS, GNASAS, PHP1B, XLAS
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| 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.
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| Bastepe M, Pincus JE, Sugimoto T, Tojo K, Kanatani M, Azuma Y, Kruse K, Rosenbloom AL, Koshiyama H, Juppner H.
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| Hum Mol Genet 10(12):1231-41. 2001
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| 13 | PHP1B, GNAS
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| The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.
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| JŸppner H, et al.
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| Proc Natl Acad Sci U S A 95 : 11798-11803. 1998
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