| 1 | 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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| 2 | 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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| 3 | GNAS, PHP1A
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| Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding.
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| Graul-Neumann LM, Bach A, Albani M, Ringe H, Weimann A, Kress W, Hiort O, Bartsch O.
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| Am J Med Genet A 149A(7):1487-93.PMID: 19530187 2009
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| 4 | 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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| 5 | GNAS, PHP1A
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| Genetics of pseudohypoparathyroidism types Ia and Ic.
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| Aldred MA.
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| J Pediatr Endocrinol Metab 19 Suppl 2:635-40. Review. 2006
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| 6 | 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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| 7 | ALMS1, AS, BFLS, FRAXA, MEHMO, MRXS11, MRXS7, PHP1A, PWS, WTSL1
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| Fat chance: genetic syndromes with obesity.
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| Delrue MA, Michaud J.
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| Clin Genet 66(2):83-93. 2004
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| 8 | DEL20Q13, GNAS, PHP1A, PHP1C
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| Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy.
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| Aldred MA, Aftimos S, Hall C, Waters KS, Thakker RV, Trembath RC, Brueton L.
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| Am J Med Genet 113(2):167-72. 2002
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| 9 | PHP1A
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| Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism.
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| Bastepe M, Lane AH, Juppner H.
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| Am J Hum Genet 68(5):1283-9. 2001
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| 10 | GNAS, PHP1A
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| Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsalpha gene mutation.
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| Nakamoto JM, et al.
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| Am J Med Genet 77 : 261-267. 1998
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| 11 | GNAS, PHP1A
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| GNAS1 mutational analysis in pseudohypoparathyroidism.
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| Ahmed SF, et al.
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| Clin Endocrinol (Oxf) 49(4):525-31. 1998
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| 12 | GNAS, PHP1A
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| A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation.
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| Warner DR, et al.
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| J Biol Chem 273(37):23976-83. 1998
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| 13 | GNAS, PHP1A
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| Normal erythrocyte membrane Gsalpha bioactivity in two unrelated patients with acrodysostosis.
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| Wilson LC, et al.
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| J Med Genet 34 : 133-136. 1997
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| 14 | PHP1A, GNAS
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| Pseudohypoparathyroidism type Ia : two new heterozygous frameshift mutations in exons 5 and 10 of the Gsalpha gene.
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| Shapira H, et al.
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| Hum Genet 97 : 73-75. 1996
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| 15 | GNAS, PHP1A
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| Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of G s alpha impairs receptor stimulation.
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| Farfel Z, et al.
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| J Biol Chem 271 : 19653-19655. 1996
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| 16 | PHP1A, GNAS
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| Paternal and maternal transmission of pseudohypoparathyroidism type Ia in a family with Albright hereditary osteodystrophy : no evidence of genomic imprinting.
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| Schuster V, et al.
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| J Med Genet 31 : 84-86. 1994
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| 17 | GNAS, PHP1A
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| Characterization of a De novo 43-bp deletion of the GSalpha gene (GNAS1) in Albright hereditary osteodystrophy.
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| Oude Luttikhuis MEM, et al.
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| Genomics 21 : 455-457. 1994
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| 18 | PHP1A, GNAS
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| Parental origin of Gsalpha gene mutations in Albright's hereditary osteodystrophy.
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| Wilson LC, et al.
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| J Med Genet 31 : 835-839. 1994
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| 19 | PHP1A, GNAS
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| A novel Gsalpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase.
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| Schwindinger WF, et al.
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| J Biol Chem 269 : 25387-25391. 1994
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| 20 | PHP1A
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| Rapid GDP release from Gs alpha in patients with gain and loss of endocrine function.
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| Iiri T, Herzmark P, Nakamoto JM, van Dop C, Bourne HR.
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| Nature 371(6493):164-8. 1994
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| 21 | GNAS, PHP1A, PHP1C
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| Imprinting in Albright's hereditary osteodystrophy.
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| Davies SJ, et al.
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| J Med Genet 30 : 101-103. 1993
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| 22 | PHP1A, GNAS
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| Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.
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| Schwindinger WF, et al.
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| Proc Natl Acad Sci U S A 89 : 5152-5156. 1992
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| 23 | PHP1A
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| A heterozygous 4-bp deletion mutation in the Gsalpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy.
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| Weinstein LS, et al.
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| Genomics 13 : 1319-1321. 1992
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| 24 | PHP1A, GNAS
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| Prevalence of three mutations in the Gs-alpha gene among 24 families with pseudohypoparathyroidism type Ia.
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| Lin CK, et al.
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| Biochem Biophys Res Commun 189 : 343-349. 1992
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| 25 | PHP1A, GNAS
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| G protein Gs-alpha (GNAS1), the probable candidate gene for Albright hereditary osteodystrophy, is assigned to human chromosome 20q12-q13.2.
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| Rao VVNG, et al.
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| Genomics 10 : 257-261. 1991
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| 26 | PHP1A, GNAS
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| Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy.
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| Patten JL, et al.
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| N Engl J Med 322 : 1412-1419. 1990
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| 27 | PHP1A, GNAS
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| Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis.
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| Weinstein LS, et al.
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| Proc Natl Acad Sci U S A 87 : 8287-8290. 1990
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| 28 | PHP1A, GNAS
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| Genetic deficiency of the a subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy.
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| Levine MA, et al.
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| Proc Natl Acad Sci U S A 85 : 617-621. 1988
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