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Volumn 42, Issue 4, 2005, Pages 307-313

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome

(25)  Tatton Brown, K a   Douglas, J a   Coleman, K a   Baujat, G b   Chandler, K c   Clarke, A d   Collins, A e   Davies, S d   Faravelli, F f   Firth, H g   Garrett, C h   Hughes, H d   Kerr, B c   Liebelt, J i   Reardon, William j   Schaefer, G Bradley i   Splitt, M l   Temple, I K e   Waggoner, D k   Weaver, D D m   more..


Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHROMOSOME 5Q35 MICRODELETION; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; FACIES; GENE; GENE DELETION; GENE FREQUENCY; GENETIC VARIABILITY; GENOME SIZE; GROWTH DISORDER; HOMOLOGOUS RECOMBINATION; HUMAN; INFANT; JAPAN; LEARNING DISORDER; MAJOR CLINICAL STUDY; NSD1 GENE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SOTOS SYNDROME;

EID: 20244383850     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.027755     Document Type: Article
Times cited : (65)

References (21)
  • 1
    • 0028078759 scopus 로고
    • Sotos syndrome: A study of the diagnostic criteria and natural history
    • Cole TR, Hughes HE. Sotos syndrome: a study of the diagnostic criteria and natural history. J Med Genet 1994;31:20-32.
    • (1994) J Med Genet , vol.31 , pp. 20-32
    • Cole, T.R.1    Hughes, H.E.2
  • 3
    • 16644397414 scopus 로고    scopus 로고
    • Clinical features of NSD1 positive Sotos Syndrome
    • Tatton-Brown K. Rahman N Clinical Features of NSD1 positive Sotos Syndrome. Clin Dysmorphol 2004;13:199-204.
    • (2004) Clin Dysmorphol , vol.13 , pp. 199-204
    • Tatton-Brown, K.1    Rahman, N.2
  • 12
    • 85164338937 scopus 로고    scopus 로고
    • BLAT - The BLAST-like alignment tool
    • Kent WJ, BLAT- The BLAST-like alignment tool. Genome Research 12;654-6.
    • Genome Research , vol.12 , pp. 654-656
    • Kent, W.J.1
  • 13
    • 1842526843 scopus 로고    scopus 로고
    • Implications of human genome architecture for rearrangement-based disorders: The genomic basis of disease
    • Shaw CJ, Lupski JR. Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet 2004;13:R57-64.
    • (2004) Hum Mol Genet , vol.13
    • Shaw, C.J.1    Lupski, J.R.2
  • 14
    • 3042641616 scopus 로고    scopus 로고
    • Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates
    • Shaw CJ, Withers MA, Lupski JR. Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates. Am J Hum Genet 2004;75:75-81.
    • (2004) Am J Hum Genet , vol.75 , pp. 75-81
    • Shaw, C.J.1    Withers, M.A.2    Lupski, J.R.3
  • 17
    • 0032231877 scopus 로고    scopus 로고
    • Comprehensive human genetic maps: Individual and sex-specific variation in recombination
    • Broman KW, Murray JC, Sheffield VC, White RL, Weber JL. Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet 1998;63:861-9.
    • (1998) Am J Hum Genet , vol.63 , pp. 861-869
    • Broman, K.W.1    Murray, J.C.2    Sheffield, V.C.3    White, R.L.4    Weber, J.L.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.