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Volumn 63, Issue 5, 1998, Pages 1552-1557

Rett syndrome: Confirmation of X-linked dominant inheritance, and localization of the gene to Xq28 [3]

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHROMOSOME INACTIVATION; CHROMOSOME XQ; CLINICAL FEATURE; FEMALE; GENE LOCATION; GENETIC LINKAGE; GENOTYPE; HUMAN; LETTER; PRIORITY JOURNAL; RETT SYNDROME; X CHROMOSOME DOMINANT INHERITANCE;

EID: 0032231652     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302105     Document Type: Letter
Times cited : (148)

References (12)
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    • Ellison, KA1    Fill, CP2    Terwilliger, J3    DeGennaro, LJ4    Martin-Gallarado, A5    Anvret, M6    Percy, AK7
  • 2
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    • A 2D crossover-based map of the human X chromosome as a model for map integration
    • PR Fain EN Kort PF Chance K Nguyen DF Redd MJ Econs DF Barker A 2D crossover-based map of the human X chromosome as a model for map integration Nat Genet 9 1995 261 266
    • (1995) Nat Genet , vol.9 , pp. 261-266
    • Fain, PR1    Kort, EN2    Chance, PF3    Nguyen, K4    Redd, DF5    Econs, MJ6    Barker, DF7
  • 4
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    • Towards fully automated genotyping: use of an X linked recessive spastic paraplegia family to test alternative analysis methods
    • H Koybayashi TC Matise MW Perlin HG Marks EP Hoffman Towards fully automated genotyping: use of an X linked recessive spastic paraplegia family to test alternative analysis methods Hum Genet 95 1995 483 490
    • (1995) Hum Genet , vol.95 , pp. 483-490
    • Koybayashi, H1    Matise, TC2    Perlin, MW3    Marks, HG4    Hoffman, EP5
  • 5
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    • Parametric and nonparametric linkage analysis: a unified multipoint approach
    • L Kruglyak MJ Daly MP Reeve-Daly ES Lander Parametric and nonparametric linkage analysis: a unified multipoint approach Am J Hum Genet 58 1996 1347 1363
    • (1996) Am J Hum Genet , vol.58 , pp. 1347-1363
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  • 6
    • 0030744335 scopus 로고    scopus 로고
    • Rett syndrome: a disorder affecting early brain growth
    • S Naidu Rett syndrome: a disorder affecting early brain growth Ann Neurol 42 1997 3 10
    • (1997) Ann Neurol , vol.42 , pp. 3-10
    • Naidu, S1
  • 7
    • 23444458594 scopus 로고
    • Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females
    • E Pegoraro RN Schimke K Arahata Y Hayash H Stern H Marks MR Glasberg Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females Am J Hum Genet 54 1994 989 1003
    • (1994) Am J Hum Genet , vol.54 , pp. 989-1003
    • Pegoraro, E1    Schimke, RN2    Arahata, K3    Hayash, Y4    Stern, H5    Marks, H6    Glasberg, MR7
  • 8
    • 0030792801 scopus 로고    scopus 로고
    • Familial skewed X-inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28
    • E Pegoraro J Whitaker P Mowery-Rushton U Surti M Lanasa EP Hoffman Familial skewed X-inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28 Am J Hum Genet 61 1997 160 170
    • (1997) Am J Hum Genet , vol.61 , pp. 160-170
    • Pegoraro, E1    Whitaker, J2    Mowery-Rushton, P3    Surti, U4    Lanasa, M5    Hoffman, EP6
  • 9
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    • A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation
    • RM Plenge BD Hendrich C Schwartz JF Arena A Naumova C Sapienza RM Winter A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation Nat Genet 17 1997 353 356
    • (1997) Nat Genet , vol.17 , pp. 353-356
    • Plenge, RM1    Hendrich, BD2    Schwartz, C3    Arena, JF4    Naumova, A5    Sapienza, C6    Winter, RM7
  • 10
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.