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Volumn 19, Issue 5, 1999, Pages 624-631

An orthopaedic scoring system for nail-patella syndrome and application to a kindred with variable expressivity and glaucoma

Author keywords

Iliac horns; LMXIB; Modifying alleles; Nail aplasia; NPS; Open angle glaucoma

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; FEMALE; GENETIC VARIABILITY; GENOTYPE; GLAUCOMA; HUMAN; KIDNEY DISEASE; MALE; NAIL DYSPLASIA; NAIL PATELLA SYNDROME; PRIORITY JOURNAL;

EID: 0032858717     PISSN: 02716798     EISSN: None     Source Type: Journal    
DOI: 10.1097/00004694-199909000-00014     Document Type: Article
Times cited : (21)

References (22)
  • 2
    • 0015597714 scopus 로고
    • The nephropathy of the nail-patella syndrome
    • Bennett WM, Musgrave JE, Campbell RA, et al. The nephropathy of the nail-patella syndrome. Am J Med 1973;54:304-19.
    • (1973) Am J Med , vol.54 , pp. 304-319
    • Bennett, W.M.1    Musgrave, J.E.2    Campbell, R.A.3
  • 3
    • 0031747153 scopus 로고    scopus 로고
    • Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail-patella syndrome
    • Chen H, Lun Y, Ovchinnikov D, et al. Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail-patella syndrome. Nat Genet 1998;19:51-5.
    • (1998) Nat Genet , vol.19 , pp. 51-55
    • Chen, H.1    Lun, Y.2    Ovchinnikov, D.3
  • 4
    • 0031800728 scopus 로고    scopus 로고
    • Mutations in LMX1b cause abnormal skeletal patterning and renal dysplasia in nail-patella syndrome
    • Dreyer SD, Zhou G, Baldini A, et al. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail-patella syndrome. Nat Genet 1998;19:47-50.
    • (1998) Nat Genet , vol.19 , pp. 47-50
    • Dreyer, S.D.1    Zhou, G.2    Baldini, A.3
  • 7
    • 0001359178 scopus 로고
    • Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns
    • Hawkins CF, Smith OE. Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns. Lancet 1950;1: 803-8.
    • (1950) Lancet , vol.1 , pp. 803-808
    • Hawkins, C.F.1    Smith, O.E.2
  • 8
    • 0021967426 scopus 로고
    • Foot deformities associated with onychoosteodysplasia
    • Hogh J, Macnicol MF. Foot deformities associated with onychoosteodysplasia. Int Orthop 1985;9:135-8.
    • (1985) Int Orthop , vol.9 , pp. 135-138
    • Hogh, J.1    Macnicol, M.F.2
  • 9
    • 50249222653 scopus 로고
    • A familial dyschondroplasia associated with anonychia and other deformities
    • Lester AM. A familial dyschondroplasia associated with anonychia and other deformities. Lancet 1936;2:1519-21.
    • (1936) Lancet , vol.2 , pp. 1519-1521
    • Lester, A.M.1
  • 10
    • 0026019699 scopus 로고
    • Hereditary onycho-osteodysplasia (nail-patella syndrome): A three generation familial study
    • Letts M. Hereditary onycho-osteodysplasia (nail-patella syndrome): a three generation familial study. Orthop Rev 1991;20: 267-72.
    • (1991) Orthop Rev , vol.20 , pp. 267-272
    • Letts, M.1
  • 12
    • 0031202066 scopus 로고    scopus 로고
    • Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome
    • Liu W, Qian C, Francke U. Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome. Nat Genet 1997;16:328-9.
    • (1997) Nat Genet , vol.16 , pp. 328-329
    • Liu, W.1    Qian, C.2    Francke, U.3
  • 13
    • 0001404004 scopus 로고
    • The nail-patella syndrome: Clinical and genetic aspects of five kindreds with thirty-eight affected family members
    • Lucas GL, Opitz JM. The nail-patella syndrome: clinical and genetic aspects of five kindreds with thirty-eight affected family members. J Pediatr 1966;68:273-88.
    • (1966) J Pediatr , vol.68 , pp. 273-288
    • Lucas, G.L.1    Opitz, J.M.2
  • 14
    • 16944365531 scopus 로고    scopus 로고
    • Fine mapping of the nail-patella syndrome locus at 9q34
    • McIntosh I, Clough MV, Schaffer AA, et al. Fine mapping of the nail-patella syndrome locus at 9q34. Am J Hum Genet 1997;60: 133-42.
    • (1997) Am J Hum Genet , vol.60 , pp. 133-142
    • McIntosh, I.1    Clough, M.V.2    Schaffer, A.A.3
  • 15
    • 0032471924 scopus 로고    scopus 로고
    • Mutation analysis of LMX1B gene in nail-patella syndrome patients
    • McIntosh I, Dreyer SD, Clough MV, et al. Mutation analysis of LMX1B gene in nail-patella syndrome patients. Am J Hum Genet 1998;63:1651-8.
    • (1998) Am J Hum Genet , vol.63 , pp. 1651-1658
    • McIntosh, I.1    Dreyer, S.D.2    Clough, M.V.3
  • 16
    • 0345523502 scopus 로고
    • Nonsense mutations result primarily in diminished mRNA levels rather than truncated protein
    • Mcintosh I, Hamosh A, Dietz HC. Nonsense mutations result primarily in diminished mRNA levels rather than truncated protein. Nat Genet 1993;4:218.
    • (1993) Nat Genet , vol.4 , pp. 218
    • McIntosh, I.1    Hamosh, A.2    Dietz, H.C.3
  • 17
    • 0012554641 scopus 로고    scopus 로고
    • Glaucoma and nail-patella syndrome (NPS) co-segregate: One gene or two?
    • McIntosh I, Lichter PR, Clough MV, et al. Glaucoma and nail-patella syndrome (NPS) co-segregate: one gene or two? Am J Hum Genet 1997;61:A58.
    • (1997) Am J Hum Genet , vol.61
    • McIntosh, I.1    Lichter, P.R.2    Clough, M.V.3
  • 18
    • 13344281005 scopus 로고    scopus 로고
    • Phenotypic variation of Waardenburg syndrome: Mutational heterogeneity, modifier genes, or polygenic background?
    • Pandya A, Xia XJ, Landa BL, et al. Phenotypic variation of Waardenburg syndrome: mutational heterogeneity, modifier genes, or polygenic background? Hum Mol Genet 1996;5:497-502.
    • (1996) Hum Mol Genet , vol.5 , pp. 497-502
    • Pandya, A.1    Xia, X.J.2    Landa, B.L.3
  • 19
    • 0001608286 scopus 로고
    • Nail-patella syndrome: Evidence for modification by alleles at the main locus
    • Renwick JH. Nail-patella syndrome: evidence for modification by alleles at the main locus. Ann Hum Genet 1956;21:159-69.
    • (1956) Ann Hum Genet , vol.21 , pp. 159-169
    • Renwick, J.H.1
  • 20
    • 16944366271 scopus 로고    scopus 로고
    • Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations
    • Schimmenti LA, Cunliffe HE, McNoe LA, et al. Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. Am J Hum Genet 1997;60:869-78.
    • (1997) Am J Hum Genet , vol.60 , pp. 869-878
    • Schimmenti, L.A.1    Cunliffe, H.E.2    McNoe, L.A.3
  • 21
    • 0031750061 scopus 로고    scopus 로고
    • Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome
    • Vollrath D, Jaramillo-Babb VL, Clough MV, et al. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. Hum Mol Genet 1998;7:1091-8.
    • (1998) Hum Mol Genet , vol.7 , pp. 1091-1098
    • Vollrath, D.1    Jaramillo-Babb, V.L.2    Clough, M.V.3
  • 22
    • 0020617661 scopus 로고
    • Long-term follow-up of the treatment of a family with nail-patella syndrome
    • Yakish SD, Fu FH. Long-term follow-up of the treatment of a family with nail-patella syndrome. J Pediatr Orthop 1983;3: 360-3.
    • (1983) J Pediatr Orthop , vol.3 , pp. 360-363
    • Yakish, S.D.1    Fu, F.H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.