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Volumn 155, Issue 12, 2011, Pages 3164-3169

Minimal genotype-phenotype correlation for small deletions within distal 1p36

Author keywords

[No Author keywords available]

Indexed keywords

MICRORNA; MICRORNA 4251; UNCLASSIFIED DRUG;

EID: 81955161815     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34333     Document Type: Letter
Times cited : (8)

References (20)
  • 1
    • 0042232610 scopus 로고    scopus 로고
    • Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions
    • Ballif BC, Yu W, Shaw CA, Kashork CD, Shaffer LG. 2003. Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions. Hum Mol Genet 12: 2153-2165.
    • (2003) Hum Mol Genet , vol.12 , pp. 2153-2165
    • Ballif, B.C.1    Yu, W.2    Shaw, C.A.3    Kashork, C.D.4    Shaffer, L.G.5
  • 2
    • 1042269551 scopus 로고    scopus 로고
    • Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements
    • Ballif BC, Wakui K, Gajecka M, Shaffer LG. 2004. Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements. Hum Genet 114: 198-206.
    • (2004) Hum Genet , vol.114 , pp. 198-206
    • Ballif, B.C.1    Wakui, K.2    Gajecka, M.3    Shaffer, L.G.4
  • 3
    • 22244471387 scopus 로고    scopus 로고
    • Del 1p36 syndrome: A newly emerging clinical entity
    • Battaglia A. 2005. Del 1p36 syndrome: A newly emerging clinical entity. Brain Dev 27: 358-361.
    • (2005) Brain Dev , vol.27 , pp. 358-361
    • Battaglia, A.1
  • 6
    • 77957551487 scopus 로고    scopus 로고
    • Prdm16 promotes stem cell maintenance in multiple tissues, partly by regulating oxidative stress
    • Chuikov S, Levi BP, Smith ML, Morrison SJ. 2010. Prdm16 promotes stem cell maintenance in multiple tissues, partly by regulating oxidative stress. Nat Cell Biol 12: 999-1006.
    • (2010) Nat Cell Biol , vol.12 , pp. 999-1006
    • Chuikov, S.1    Levi, B.P.2    Smith, M.L.3    Morrison, S.J.4
  • 7
    • 33845916512 scopus 로고    scopus 로고
    • Prader-Willi-like phenotype: Investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems
    • D'Angelo CS, Da Paz JA, Kim CA, Bertola DR, Castro CI, Varela MC, Koiffmann CP. 2006. Prader-Willi-like phenotype: Investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems. Eur J Med Genet 49: 451-460.
    • (2006) Eur J Med Genet , vol.49 , pp. 451-460
    • D'Angelo, C.S.1    Da Paz, J.A.2    Kim, C.A.3    Bertola, D.R.4    Castro, C.I.5    Varela, M.C.6    Koiffmann, C.P.7
  • 8
    • 33646044698 scopus 로고    scopus 로고
    • Characterization of a complex rearrangement with interstitial deletions and inversion on human chromosome 1
    • Gajecka M, Glotzbach CD, Shaffer LG. 2006. Characterization of a complex rearrangement with interstitial deletions and inversion on human chromosome 1. Chromosome Res 14: 277-282.
    • (2006) Chromosome Res , vol.14 , pp. 277-282
    • Gajecka, M.1    Glotzbach, C.D.2    Shaffer, L.G.3
  • 11
    • 0141955800 scopus 로고    scopus 로고
    • Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality
    • Heilstedt HA, Ballif BC, Howard LA, Kashork CD, Shaffer LG. 2003a. Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality. Clin Genet 64: 310-316.
    • (2003) Clin Genet , vol.64 , pp. 310-316
    • Heilstedt, H.A.1    Ballif, B.C.2    Howard, L.A.3    Kashork, C.D.4    Shaffer, L.G.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.