메뉴 건너뛰기




Volumn 26, Issue 1, 2011, Pages 113-116

An emerging 1q21.1 deletion-associated neurodevelopmental phenotype

Author keywords

1q211 microdeletion; chromosome; comparative genomic hybridization; drop attacks; epilepsy; neurodevelopmental

Indexed keywords

ABSENCE; ARTICLE; ATAXIA; CASE REPORT; CHILD; CHROMOSOME 1Q; CHROMOSOME 1Q21; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DROP ATTACK; ELECTROENCEPHALOGRAM; EPILEPSY; FAMILY; HUMAN; MICROARRAY ANALYSIS; MILD GLOBAL DEVELOPMENTAL DELAY; NERVE CELL DIFFERENTIATION; NUCHAL TRANSLUCENCY MEASUREMENT; OLIGOHYDRAMNIOS; PHENOTYPE; PREGNANCY; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; TONIC CLONIC SEIZURE;

EID: 78651264784     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073810377658     Document Type: Article
Times cited : (20)

References (14)
  • 1
    • 33748333194 scopus 로고    scopus 로고
    • Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
    • Sharp AJ, Hansen S., Selzer RR, et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet. 2006 ; 38: 1038-1042.
    • (2006) Nat Genet , vol.38 , pp. 1038-1042
    • Sharp, A.J.1    Hansen, S.2    Selzer, R.R.3
  • 2
    • 2942668448 scopus 로고    scopus 로고
    • Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease
    • Christiansen J., Dyck JD, Elyas BG, et al. Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease. Circ Res. 2004 ; 94: 1429-1435.
    • (2004) Circ Res , vol.94 , pp. 1429-1435
    • Christiansen, J.1    Dyck, J.D.2    Elyas, B.G.3
  • 4
    • 42049115843 scopus 로고    scopus 로고
    • Genomic imbalances associated with mullerian aplasia
    • Cheroki C., Krepischi-Santos AC, Szuhai K., et al. Genomic imbalances associated with mullerian aplasia. J Med Genet. 2008 ; 45: 228-232.
    • (2008) J Med Genet , vol.45 , pp. 228-232
    • Cheroki, C.1    Krepischi-Santos, A.C.2    Szuhai, K.3
  • 5
    • 33847327313 scopus 로고    scopus 로고
    • Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    • Szatmari P., Paterson AD, Zwaigenbaum L., et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet. 2007 ; 39: 319-328.
    • (2007) Nat Genet , vol.39 , pp. 319-328
    • Szatmari, P.1    Paterson, A.D.2    Zwaigenbaum, L.3
  • 6
    • 49949085933 scopus 로고    scopus 로고
    • Large recurrent microdeletions associated with schizophrenia
    • Stefansson H., Rujescu D., Cichon S., et al. Large recurrent microdeletions associated with schizophrenia. Nature. 2008 ; 455: 232-236.
    • (2008) Nature , vol.455 , pp. 232-236
    • Stefansson, H.1    Rujescu, D.2    Cichon, S.3
  • 7
    • 51649107017 scopus 로고    scopus 로고
    • Rare chromosomal deletions and duplications increase risk of schizophrenia
    • Stone JL, O'Donovan MC, Gurling H., et al. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature. 2008 ; 455: 237-241.
    • (2008) Nature , vol.455 , pp. 237-241
    • Stone, J.L.1    O'Donovan, M.C.2    Gurling, H.3
  • 8
    • 42349088634 scopus 로고    scopus 로고
    • Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
    • Walsh T., McClellan JM, McCarthy SE, et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science. 2008 ; 320: 539-543.
    • (2008) Science , vol.320 , pp. 539-543
    • Walsh, T.1    McClellan, J.M.2    McCarthy, S.E.3
  • 9
    • 54049094444 scopus 로고    scopus 로고
    • Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
    • Mefford HC, Sharp AJ, Baker C., et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med. 2008 ; 359: 1685-1699.
    • (2008) N Engl J Med , vol.359 , pp. 1685-1699
    • Mefford, H.C.1    Sharp, A.J.2    Baker, C.3
  • 10
    • 56749154242 scopus 로고    scopus 로고
    • Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
    • Brunetti-Pierri N., Berg JS, Scaglia F., et al. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 ; 40: 1466-1471.
    • (2008) Nat Genet , vol.40 , pp. 1466-1471
    • Brunetti-Pierri, N.1    Berg, J.S.2    Scaglia, F.3
  • 11
    • 39749126187 scopus 로고    scopus 로고
    • Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
    • Unger S., Böhm D., Kaiser FJ, et al. Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nat Genet. 2008 ; 40: 287-289.
    • (2008) Nat Genet , vol.40 , pp. 287-289
    • Unger, S.1    Böhm, D.2    Kaiser, F.J.3
  • 12
    • 1842715120 scopus 로고    scopus 로고
    • Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye
    • Boehm D., Herold S., Kuechler A., et al. Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye. Hum Mutat. 2004 ; 23: 368-378.
    • (2004) Hum Mutat , vol.23 , pp. 368-378
    • Boehm, D.1    Herold, S.2    Kuechler, A.3
  • 13
    • 78651326232 scopus 로고
    • 2nd ed. San Antonio: The Psychological Corporation;
    • Bayley N. Bayley Scales of Infant Development. 2nd ed. San Antonio: The Psychological Corporation ; 1993.
    • (1993) Of Infant Development
    • Bayley, N.1    Scales, B.2
  • 14
    • 0004235298 scopus 로고
    • American Psychiatric Association 4th ed. Washington, DC: American Psychiatric Association;
    • American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 4th ed. Washington, DC: American Psychiatric Association ; 1994.
    • (1994) Diagnostic and Statistical Manual of Mental Disorders


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.