메뉴 건너뛰기




Volumn 35, Issue 4, 1998, Pages 284-287

Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers

Author keywords

Diplegia; Mental retardation; X inactivation

Indexed keywords

ADOLESCENT; ALLELE; ARTICLE; CENTROMERE; CHROMOSOME XP; CRYPTORCHISM; FEMALE; GENE LOCATION; GENETIC LINKAGE; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; MENTAL DEFICIENCY; MICROCEPHALY; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; SPASTICITY; X CHROMOSOME; X CHROMOSOME INACTIVATION;

EID: 0031978782     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.4.284     Document Type: Article
Times cited : (19)

References (19)
  • 2
    • 0028231090 scopus 로고
    • The 1993-94 Ge ́néthon human genetic linkage map
    • Gyapay G, Morissette J, Vignal A, et al. The 1993-94 Ge ́néthon human genetic linkage map. Nat Genet 1994;7:246-339.
    • (1994) Nat Genet , vol.7 , pp. 246-339
    • Gyapay, G.1    Morissette, J.2    Vignal, A.3
  • 3
    • 0026693979 scopus 로고
    • Characterization of new PCR based markers for mapping and diagnosis: AC dinucleotide repeat markers at the DXS237 (GMGX9) and DXS102 (cX38.1) loci
    • Gedeon AK, Holman K, Richards RI, Mulley JC. Characterization of new PCR based markers for mapping and diagnosis: AC dinucleotide repeat markers at the DXS237 (GMGX9) and DXS102 (cX38.1) loci. Am J Med Genet 1992;43:255-60.
    • (1992) Am J Med Genet , vol.43 , pp. 255-260
    • Gedeon, A.K.1    Holman, K.2    Richards, R.I.3    Mulley, J.C.4
  • 4
    • 0025943652 scopus 로고
    • Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms
    • Clemens PR, Fenvick RG, Chamberlain JS, et al. Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet 1991;49:951-60.
    • (1991) Am J Hum Genet , vol.49 , pp. 951-960
    • Clemens, P.R.1    Fenvick, R.G.2    Chamberlain, J.S.3
  • 6
    • 0025824166 scopus 로고
    • A highly polymorphic dinucleotide repeat on the proximal short arm of the human X chromosome: Linkage mapping of the Synapsin I/A-raf-I genes
    • Kirchgessner CU, Trofatter JA, Mahtani MM, Willard HF, DeGennaro LJ. A highly polymorphic dinucleotide repeat on the proximal short arm of the human X chromosome: linkage mapping of the Synapsin I/A-raf-I genes.Am J Hum Genet 1991;49:184-91.
    • (1991) Am J Hum Genet , vol.49 , pp. 184-191
    • Kirchgessner, C.U.1    Trofatter, J.A.2    Mahtani, M.M.3    Willard, H.F.4    Degennaro, L.J.5
  • 7
    • 0026551039 scopus 로고
    • Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups
    • Edwards A, Hammond HA, Jin L, Caskey CT, Chakraborty R. Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics 1992;12:241-53.
    • (1992) Genomics , vol.12 , pp. 241-253
    • Edwards, A.1    Hammond, H.A.2    Jin, L.3    Caskey, C.T.4    Chakraborty, R.5
  • 9
    • 0027166351 scopus 로고
    • Four STR polymorphisms map to a 500 kb region between DXS15 and DXS134
    • Wehnert M, Reiner O, Caskey CT. Four STR polymorphisms map to a 500 kb region between DXS15 and DXS134. Hum Mot Genet 1993;2:1503.
    • (1993) Hum Mot Genet , vol.2 , pp. 1503
    • Wehnert, M.1    Reiner, O.2    Caskey, C.T.3
  • 10
    • 0020210930 scopus 로고
    • Ultrasensitive staining of nucleic acids with silver
    • Beidler JL, Hilliard PR, Rill RL. Ultrasensitive staining of nucleic acids with silver. Anal Biochem 1982;126:374-80.
    • (1982) Anal Biochem , vol.126 , pp. 374-380
    • Beidler, J.L.1    Hilliard, P.R.2    Rill, R.L.3
  • 11
    • 0026678490 scopus 로고
    • Methylation of Hpa II and Hha I sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
    • Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of Hpa II and Hha I sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992;51:1229-39.
    • (1992) Am J Hum Genet , vol.51 , pp. 1229-1239
    • Allen, R.C.1    Zoghbi, H.Y.2    Moseley, A.B.3    Rosenblatt, H.M.4    Belmont, J.W.5
  • 12
    • 0021344005 scopus 로고
    • Easy calculations of lod scores and genetic risks on small computers
    • Lathrop G, Lalouel J. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 1984;36:460-5.
    • (1984) Am J Hum Genet , vol.36 , pp. 460-465
    • Lathrop, G.1    Lalouel, J.2
  • 14
    • 0028895748 scopus 로고
    • A 2D crossover-based map of the human X chromosome as a model for map integration
    • Fain PR, Kort EN, Chance PF, et al. A 2D crossover-based map of the human X chromosome as a model for map integration. Nat Genet 1995;9:261-6.
    • (1995) Nat Genet , vol.9 , pp. 261-266
    • Fain, P.R.1    Kort, E.N.2    Chance, P.F.3
  • 15
    • 0030009776 scopus 로고    scopus 로고
    • Heritability of X chromosome-inactivation phenotype in a large family
    • Naumova AK, Plenge RM, Bird LM, et al. Heritability of X chromosome-inactivation phenotype in a large family. Am J Hum Genet 1996;58:1111-19.
    • (1996) Am J Hum Genet , vol.58 , pp. 1111-1119
    • Naumova, A.K.1    Plenge, R.M.2    Bird, L.M.3
  • 16
    • 0029885015 scopus 로고    scopus 로고
    • Genetic control of X inactivation and processes leading to X-inactivation skewing
    • Beltmont JW. Genetic control of X inactivation and processes leading to X-inactivation skewing. Am J Hum Genet 1996;58:1101-8.
    • (1996) Am J Hum Genet , vol.58 , pp. 1101-1108
    • Beltmont, J.W.1
  • 17
    • 0023735853 scopus 로고
    • Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MBX2)
    • Sutherland GR, Gedeon AK, Haan EA, Woodroffe P, Mulley JC. Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MBX2). Am J Med Genet 1988;30:493-508.
    • (1988) Am J Med Genet , vol.30 , pp. 493-508
    • Sutherland, G.R.1    Gedeon, A.K.2    Haan, E.A.3    Woodroffe, P.4    Mulley, J.C.5
  • 18
    • 0030580992 scopus 로고    scopus 로고
    • Gene localisation for Sutherland-Haan syndrome (SHS:MIM 309470)
    • Gedeon A, Mulley J, Haan E. Gene localisation for Sutherland-Haan syndrome (SHS:MIM 309470). Am J Med Genet 1996;64:78-9.
    • (1996) Am J Med Genet , vol.64 , pp. 78-79
    • Gedeon, A.1    Mulley, J.2    Haan, E.3
  • 19
    • 0029889132 scopus 로고    scopus 로고
    • The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule
    • Fransen E, Vits L, Van Camp G, Willems PJ. The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule. Am J Med Genet 1996;64:73-7.
    • (1996) Am J Med Genet , vol.64 , pp. 73-77
    • Fransen, E.1    Vits, L.2    Van Camp, G.3    Willems, P.J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.