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Volumn 365, Issue 7, 2011, Pages 661-663

Hamartoma syndromes, exome sequencing, and a protean puzzle

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN KINASE B;

EID: 84860399425     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMe1107384     Document Type: Editorial
Times cited : (5)

References (10)
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    • A mosaic activating mutation in AKT1 associated with the Proteus syndrome
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    • Lindhurst, M.J.1    Sapp, J.C.2    Teer, J.K.3
  • 2
    • 0017091374 scopus 로고
    • Macrodactylyl, hemihypertrophy, and connective tissue nevi: Report of a new syndrome and review of the literature
    • DOI 10.1016/S0022-3476(76)80597-5
    • Temtamy S.A., Rogers J.G. Macrodactyly, hemihypertrophy, and connective tissue nevi: Report of a new syndrome and review of the literature. J Pediatr 1976;89:924-927 (Pubitemid 8004216)
    • (1976) Journal of Pediatrics , vol.89 , Issue.6 , pp. 924-927
    • Temtamy, S.A.1    Rogers, J.G.2
  • 3
    • 0020534650 scopus 로고
    • The Proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections
    • Wiedemann H.R., Burgio G.R., Aldenhoff P., Kunze J., Kaufmann H.J., Schirg E. The proteus syndrome: Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections. Eur J Pediatr 1983;140:5-12. (Pubitemid 13121993)
    • (1983) European Journal of Pediatrics , vol.140 , Issue.1 , pp. 5-12
    • Wiedemann, H.R.1    Burgio, G.R.2    Aldenhoff, P.3
  • 4
    • 0033531962 scopus 로고    scopus 로고
    • Elattoproteus syndrome: Delineation of an inverse form of Proteus syndrome
    • DOI 10.1002/(SICI)1096-8628(19990507)84:1<25::AID-AJMG6>3.0.CO;2-F
    • Happle R. Elattoproteus syndrome: Delineation of an inverse form of Proteus syndrome. Am J Med Genet 1999;84:25-28 (Pubitemid 29169230)
    • (1999) American Journal of Medical Genetics , vol.84 , Issue.1 , pp. 25-28
    • Happle, R.1
  • 5
    • 79953825909 scopus 로고    scopus 로고
    • Revisiting Mendelian disorders through exome sequencing
    • Ku C.S., Naidoo N., Pawitan Y. Revisiting Mendelian disorders through exome sequencing. Hum Genet 2011;129:351-370
    • (2011) Hum Genet , vol.129 , pp. 351-370
    • Ku, C.S.1    Naidoo, N.2    Pawitan, Y.3
  • 6
    • 80051550297 scopus 로고    scopus 로고
    • Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency
    • June 22 (Epub ahead of print)
    • Rope A.F., Wang K., Evjenth R., et al. Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet 2011 June 22 (Epub ahead of print).
    • (2011) Am J Hum Genet
    • Rope, A.F.1    Wang, K.2    Evjenth, R.3
  • 7
    • 80051547469 scopus 로고    scopus 로고
    • A probabilistic disease-gene finder for personal genomes
    • June 23 (Epub ahead of print)
    • Yandell M., Huff C.D., Hu H., et al. A probabilistic disease-gene finder for personal genomes. Genome Res 2011 June 23 (Epub ahead of print).
    • (2011) Genome Res
    • Yandell, M.1    Huff, C.D.2    Hu, H.3
  • 8
    • 70349956433 scopus 로고    scopus 로고
    • Finding the missing heritability of complex diseases
    • Manolio T.A., Collins F.S., Cox N.J., et al. Finding the missing heritability of complex diseases. Nature 2009;461:747-753
    • (2009) Nature , vol.461 , pp. 747-753
    • Manolio, T.A.1    Collins, F.S.2    Cox, N.J.3
  • 10
    • 67249117049 scopus 로고    scopus 로고
    • Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
    • Hindorff L.A., Sethupathy P., Junkins H.A., et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A 2009;106:9362-9367
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 9362-9367
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.