| 1 | AIRE, ATR, BCOR, CCD, COL1A1, COL1A2, CRDAI, CYP27B1, DLX", FTC1, GALNT3, HPC3, NHS, OFCD, OI1A, OI1B, PCNT, PDDR, PGA1, RUNX2, SCKL, SCKL1, SCKL2, SCKL3, SHH, SIOD, SMARCAL1, TDOS, VDDR2, VDR, WHS
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| The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement.
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| Bailleul-Forestier I, Berdal A, Vinckier F, de Ravel T, Fryns JP, Verloes A.
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| Eur J Med Genet 51(5):383-408. Epub 2008 May 23. Review. 2008
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| 2 | CYP27B1, PDDR
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| Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency.
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| Kim CJ, Kaplan LE, Perwad F, Huang N, Sharma A, Choi Y, Miller WL, Portale AA.
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| J Clin Endocrinol Metab 92(8):3177-82. Epub 2007 May 8. 2007
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| 3 | PDDR, CYP27B1
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| Structure-function analysis of CYP27B1 and CYP27A1. Studies on mutants from patients with vitamin D-dependent rickets type I (VDDR-I) and cerebrotendinous xanthomatosis (CTX).
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| Sawada N, Sakaki T, Kitanaka S, Kato S, Inouye K.
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| Eur J Biochem 268(24):6607-15. 2001
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| 4 | CYP27B1, PDDR
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| Genetic mutation in the human 25-hydroxyvitamin D3 1alpha-hydroxylase gene causes vitamin D-dependent rickets type I.
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| Kato S.
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| Mol Cell Endocrinol 156(1-2):7-12. Review 1999
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| 5 | CYP27B1, PDDR
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| Inactivating mutations in the 25-hydroxyvitamin D, 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets.
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| Kitanaka S, Takeyama K, Murayama A, Sato T, Okumura K, Nogami M, Hasegawa Y, Niimi H, Yanagisawa J, Tanaka T, Kato S.
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| N Engl J Med 338(10):653-61. 1998
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| 6 | CYP27B1, PDDR
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| Two novel 1alpha-hydroxylase mutations in French-Canadians with vitamin D dependency rickets type I1.
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| Yoshida T, Monkawa T, Tenenhouse HS, Goodyer P, Shinki T, Suda T, Wakino S, Hayashi M, Saruta T.
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| Kidney Int 54 : 1437-1443. 1998
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| 7 | CYP27B1, PDDR
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| Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families.
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| Wang JT, Lin CJ, Burridge SM, Fu GK, Labuda M, Portale AA, Miller WL.
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| Am J Hum Genet 63 : 1694-1702. 1998
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| 8 | CYP27B1, PDDR
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| Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1.
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| Fu GK, Lin D, Zhang MY, Bikle DD, Shackleton CH, Miller WL, Portale AA.
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| Mol Endocrinol 11(13):1961-70. 1997
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| 9 | CYP27B1, PDDR
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| The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus.
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| St-Arnaud R, et al.
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| J Bone Miner Res 12(10):1552-9 1997
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| 10 | PDDR
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| Linkage disequilibrium analysis in young populations : pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians.
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| Labuda M, et al.
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| Am J Hum Genet 59 : 633-643. 1996
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| 11 | PDDR, VDR, CYP24A1
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| Human 25-hydroxyvitamin-D 24-hydroxylase cytochrome-P450 subunit maps to a different chromosomal location than that of pseudovitamin D deficient rickets.
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| Labuda M, et al.
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| J Bone Miner Res 8 : 1397-1406. 1993
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| 12 | PDDR, VDR
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| Two hereditary defects related to vitamin D metabolism map to the same region of human chromosome 12q13-14.
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| Labuda M, et al.
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| J Bone Miner Res 7 : 1447-1453. 1992
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| 13 | PDDR
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| Mapping autosomal recessive vitamin D dependency type I to chromosome 12q14 by linkage analysis.
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| Labuda M, et al.
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| Am J Hum Genet 47 : 28-36. 1990
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| 14 | PDDR
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| Pathogenesis of hereditary vitamin-D- dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1-alpha, 25-dihydroxyvitamin D.
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| Fraser D, et al.
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| N Engl J Med 289 : 817-822. 1973
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| 15 | PDDR
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| Eine besondere Form der primaeren Vitamin-D-resistensten Rachitis mit Hypocalcaemie und autosomal-dominantem Erbgang : die hereditaere Pseudo-Mangelrachitis.
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| Prader A, et al.
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| Helv Paediatr Acta 16 : 452-468. 1961
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