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Volumn 63, Issue 1, 1998, Pages 267-269

A severely affected male born into a Rett syndrome kindred supports X- linked inheritance and allows extension of the exclusion map [1]

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; GENE MAPPING; GENETIC MARKER; GENOTYPE; HUMAN; LETTER; MALE; NEWBORN; PRIORITY JOURNAL; RETT SYNDROME; X CHROMOSOME LINKED DISORDER;

EID: 0032231726     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301932     Document Type: Letter
Times cited : (82)

References (9)
  • 1
    • 0025736146 scopus 로고
    • Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations
    • N Archidiacono M Lerone M Rocchi M Anvret T Ozcelik U Francke G Romeo Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations Hum Genet 86 1991 604 606
    • (1991) Hum Genet , vol.86 , pp. 604-606
    • Archidiacono, N1    Lerone, M2    Rocchi, M3    Anvret, M4    Ozcelik, T5    Francke, U6    Romeo, G7
  • 2
    • 85120099024 scopus 로고    scopus 로고
    • D Brown Hoping for the impossible 1997 Washington Post Washington, DC October 18
    • (1997)
    • Brown, D1
  • 3
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • C Dib S Faure C Fizames D Samson N Drouot A Vignal P Millasseau A comprehensive genetic map of the human genome based on 5,264 microsatellites Nature 380 1996 152 154
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C1    Faure, S2    Fizames, C3    Samson, D4    Drouot, N5    Vignal, A6    Millasseau, P7
  • 4
    • 0026567450 scopus 로고
    • Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis
    • KA Ellison CP Fill J Terwilliger LJ DeGennaro A Martin-Gallardo M Anvret AK Percy Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis Am J Hum Genet 50 1992 278 287
    • (1992) Am J Hum Genet , vol.50 , pp. 278-287
    • Ellison, KA1    Fill, CP2    Terwilliger, J3    DeGennaro, LJ4    Martin-Gallardo, A5    Anvret, M6    Percy, AK7
  • 5
    • 0027947017 scopus 로고
    • Digitized and differentially shaded human chromosome ideograms for genomic applications
    • U Francke Digitized and differentially shaded human chromosome ideograms for genomic applications Cytogenet Cell Genet 65 1994 206 219
    • (1994) Cytogenet Cell Genet , vol.65 , pp. 206-219
    • Francke, U1
  • 6
    • 0021910048 scopus 로고
    • Rett's syndrome: a progressive developmental disability in girls
    • VA Holm Rett's syndrome: a progressive developmental disability in girls J Dev Behav Pediatr 6 1985 32 36
    • (1985) J Dev Behav Pediatr , vol.6 , pp. 32-36
    • Holm, VA1
  • 7
    • 14444286943 scopus 로고    scopus 로고
    • X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content
    • R Nagaraja S MacMillan J Kere C Jones S Griffin M Schmatz J Terrell X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content Genome Res 7 1997 210 222
    • (1997) Genome Res , vol.7 , pp. 210-222
    • Nagaraja, R1    MacMillan, S2    Kere, J3    Jones, C4    Griffin, S5    Schmatz, M6    Terrell, J7
  • 8
    • 0030876388 scopus 로고    scopus 로고
    • A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map
    • NC Schanen EJR Dahle F Capozzoli VA Holm HY Zoghbi U Francke A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map Am J Hum Genet 61 1997 634 641
    • (1997) Am J Hum Genet , vol.61 , pp. 634-641
    • Schanen, NC1    Dahle, EJR2    Capozzoli, F3    Holm, VA4    Zoghbi, HY5    Francke, U6
  • 9
    • 0031831762 scopus 로고    scopus 로고
    • Neonatal encephalopathy in two male children in families with recurrent Rett syndrome
    • C Schanen T Kurczynski D Brunnelle M Woodcock L Dure A Percy Neonatal encephalopathy in two male children in families with recurrent Rett syndrome J Child Neurol 5 1998 229 231
    • (1998) J Child Neurol , vol.5 , pp. 229-231
    • Schanen, C1    Kurczynski, T2    Brunnelle, D3    Woodcock, M4    Dure, L5    Percy, A6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.