Literature
(8 items) | | human disease | [Albright hereditary osteodystrophy: identification of a novel mutation in a family]
Bastida Eizaguirre M, Iturbe Ortiz De Urbina R, Arto Urzainqui M, Ezquerra Larreina R, Escalada San Martín J
An Esp Pediatr. 2001;54;598-600. PMID: 11412411
| Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy.
Aldred MA, Aftimos S, Hall C, Waters KS, Thakker RV, Trembath RC, Brueton L
Am J Med Genet. 2002;113;167-72. PMID: 12407707 DOI: 10.1002/ajmg.10751
| Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1.
Garavelli L, Pedori S, Zanacca C, Caselli G, Loiodice A, Mantovani G, Ammenti A, Virdis R, Banchini G
Acta Biomed. 2005;76;45-8. PMID: 16116826
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| | A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy.
Weinstein LS, Gejman PV, de Mazancourt P, American N, Spiegel AM
Genomics. 1992;13;1319-21. PMID: 1505964
| 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;84;3254-9. PMID: 10487696
| Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
Ahrens W, Hiort O, Staedt P, Kirschner T, Marschke C, Kruse K
J Clin Endocrinol Metab. 2001;86;4630-4. PMID: 11600516
| Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.
De Sanctis L, Romagnolo D, Olivero M, Buzi F, Maghnie M, Scirè G, Crino A, Baroncelli GI, Salerno M, Di Maio S, Cappa M, Grosso S, Rigon F, Lala R, De Sanctis C, Dianzani I
Pediatr Res. 2003;53;749-55. PMID: 12621129 DOI: 10.1203/01.PDR.0000059752.07086.A2
| A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy.
Pohlenz J, Ahrens W, Hiort O
Eur J Endocrinol. 2003;148;463-8. PMID: 12656668
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