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Volumn 512, Issue 2, 2013, Pages 453-455

Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion

Author keywords

15q11.2 q13.1; 2q21.3; Angelman syndrome; Infection; Microdeletion

Indexed keywords

ARTICLE; BACTERIAL MENINGITIS; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EXTRACHROMOSOMAL INHERITANCE; FACE DYSMORPHIA; FEBRILE CONVULSION; FEMALE; GENE; GENE DELETION; HAPPY PUPPET SYNDROME; HUMAN; INFECTION; MUSCLE HYPOTONIA; OSTEOMYELITIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT DISEASE; SEPTICEMIA; STAPHYLOCOCCUS AUREUS;

EID: 84870321658     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.10.061     Document Type: Article
Times cited : (13)

References (8)
  • 1
    • 85047700330 scopus 로고    scopus 로고
    • Association between a GABRB3 polymorphism and autism
    • Buxbaum J.D., et al. Association between a GABRB3 polymorphism and autism. Mol. Psychiatry 2002, 7:311-316.
    • (2002) Mol. Psychiatry , vol.7 , pp. 311-316
    • Buxbaum, J.D.1
  • 2
    • 44449163003 scopus 로고    scopus 로고
    • Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive
    • Chiang P.W., Spector E., Tsai A.C. Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive. Am. J. Med. Genet. A 2008, 146A:1493-1496.
    • (2008) Am. J. Med. Genet. A , vol.146 A , pp. 1493-1496
    • Chiang, P.W.1    Spector, E.2    Tsai, A.C.3
  • 3
    • 84860197780 scopus 로고    scopus 로고
    • Molecular and clinical aspects of Angelman syndrome
    • Dagli A., Buiting K., Williams C.A. Molecular and clinical aspects of Angelman syndrome. Mol. Syndr. 2012, 2:100-112.
    • (2012) Mol. Syndr. , vol.2 , pp. 100-112
    • Dagli, A.1    Buiting, K.2    Williams, C.A.3
  • 4
    • 84855340991 scopus 로고    scopus 로고
    • Sudden death and Angelman syndrome
    • Herbst J., Byard R.W. Sudden death and Angelman syndrome. J. Forensic Sci. 2012, 57:257-259.
    • (2012) J. Forensic Sci. , vol.57 , pp. 257-259
    • Herbst, J.1    Byard, R.W.2
  • 5
    • 40749148586 scopus 로고    scopus 로고
    • Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene
    • Kayser M., et al. Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am. J. Hum. Genet. 2008, 82:411-423.
    • (2008) Am. J. Hum. Genet. , vol.82 , pp. 411-423
    • Kayser, M.1
  • 6
    • 0031012849 scopus 로고    scopus 로고
    • UBE3A/E6-AP mutations cause Angelman syndrome
    • Kishino T., Lalande M., Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nat. Genet. 1997, 15:70-73.
    • (1997) Nat. Genet. , vol.15 , pp. 70-73
    • Kishino, T.1    Lalande, M.2    Wagstaff, J.3
  • 7
    • 33747876660 scopus 로고    scopus 로고
    • A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity
    • Urak L., Feucht M., Fathi N., Hornik K., Fuchs K. A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity. Hum. Mol. Genet. 2006, 15:2533-2541.
    • (2006) Hum. Mol. Genet. , vol.15 , pp. 2533-2541
    • Urak, L.1    Feucht, M.2    Fathi, N.3    Hornik, K.4    Fuchs, K.5
  • 8
    • 77955173454 scopus 로고    scopus 로고
    • Clinical and genetic aspects of Angelman syndrome
    • Williams C.A., Driscoll D.J., Dagli A.I. Clinical and genetic aspects of Angelman syndrome. Genet. Med. 2010, 12:385-395.
    • (2010) Genet. Med. , vol.12 , pp. 385-395
    • Williams, C.A.1    Driscoll, D.J.2    Dagli, A.I.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.