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Volumn 155, Issue 5, 2011, Pages 988-992

Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome

Author keywords

[No Author keywords available]

Indexed keywords

1P36 DELETION SYNDROME; ADOLESCENT; BEHAVIOR DISORDER; CASE REPORT; CHROMOSOME DELETION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; FEMALE; GENOTYPE; HUMAN; INTELLECTUAL IMPAIRMENT; LETTER; MUSCLE HYPOTONIA; PRIORITY JOURNAL; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; SLEEP DISORDER; SMITH MAGENIS SYNDROME; SPEECH DISORDER;

EID: 79954998470     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33960     Document Type: Letter
Times cited : (8)

References (18)
  • 2
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    • Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements
    • D'Angelo CS, Gajecka M, Kim CA, Gentles AJ, Glotzbach CD, Shaffer LG, Koiffmann CP. 2009. Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements. Hum Genet 125: 551-563.
    • (2009) Hum Genet , vol.125 , pp. 551-563
    • D'Angelo, C.S.1    Gajecka, M.2    Kim, C.A.3    Gentles, A.J.4    Glotzbach, C.D.5    Shaffer, L.G.6    Koiffmann, C.P.7
  • 8
    • 0034513406 scopus 로고    scopus 로고
    • Molecular mechanisms for constitutional chromosomal rearrangements in humans
    • Shaffer LG, Lupski JR. 2000. Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet 34: 297-329.
    • (2000) Annu Rev Genet , vol.34 , pp. 297-329
    • Shaffer, L.G.1    Lupski, J.R.2
  • 15
    • 0037603172 scopus 로고    scopus 로고
    • Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?
    • Vlangos CN, Yim DK, Elsea SH. 2003. Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally? Mol Genet Metab 79: 134-141.
    • (2003) Mol Genet Metab , vol.79 , pp. 134-141
    • Vlangos, C.N.1    Yim, D.K.2    Elsea, S.H.3
  • 16
    • 77951619153 scopus 로고    scopus 로고
    • Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: Identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay
    • Williams SR, Girirajan S, Tegay D, Nowak N, Hatchwell E, Elsea SH. 2010. Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: Identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay. J Med Genet 47: 223-229.
    • (2010) J Med Genet , vol.47 , pp. 223-229
    • Williams, S.R.1    Girirajan, S.2    Tegay, D.3    Nowak, N.4    Hatchwell, E.5    Elsea, S.H.6
  • 17
    • 0037067242 scopus 로고    scopus 로고
    • The human gamma-aminobutyric acid A receptor delta (GABRD) gene: Molecular characterization and tissue-specific expression
    • Windpassinger C, Kroisel PM, Wagner K, Petek E. 2002. The human gamma-aminobutyric acid A receptor delta (GABRD) gene: Molecular characterization and tissue-specific expression. Gene 292: 25-31.
    • (2002) Gene , vol.292 , pp. 25-31
    • Windpassinger, C.1    Kroisel, P.M.2    Wagner, K.3    Petek, E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.