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Volumn 67, Issue 5, 2000, Pages 1327-1332

Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME; CHROMOSOME 11P; CHROMOSOME DELETION; CHROMOSOME MAP; GENE EXPRESSION; GENE LOCATION; HEMIZYGOSITY; HOMEOBOX; NONHUMAN; NUCLEOTIDE SEQUENCE; PARIETAL FORAMINA; POTOCKI SHAFFER SYNDROME; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKULL DEVELOPMENT; SKULL MALFORMATION;

EID: 0033759656     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9297(07)62963-2     Document Type: Article
Times cited : (79)

References (20)
  • 2
    • 0001113790 scopus 로고
    • The embryological development of the effects of Strong's luxoid gene in the mouse
    • (1963) J Morphol , vol.113 , pp. 427-452
    • Forsthoefel, P.F.1
  • 5
    • 0029800845 scopus 로고    scopus 로고
    • The molecular basis of Boston-type craniosynostosis: The Pro148→His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences
    • (1996) Hum Mol Genet , vol.5 , pp. 1915-1920
    • Ma, L.1    Golden, S.2    Wu, L.3    Maxson, R.4
  • 6
    • 0029878404 scopus 로고    scopus 로고
    • Interstitial deletion of 11(p11.2p12): A newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2)
    • (1996) Am J Med Genet , vol.62 , pp. 319-325
    • Potocki, L.1    Shaffer, L.G.2
  • 7
    • 0030608661 scopus 로고    scopus 로고
    • Alx-4:cDNA cloning and characterization of a novel paired-type homeodomain protein
    • (1997) Gene , vol.203 , pp. 217-223
    • Qu, S.1    Li, L.2    Wisdom, R.3
  • 11
    • 0023807094 scopus 로고
    • Microdeletion syndromes, balanced translocations, and gene mapping
    • (1988) J Med Genet , vol.25 , pp. 454-462
    • Schinzel, A.1
  • 12
    • 0022916035 scopus 로고
    • Contiguous gene syndromes: A component of recognizable syndromes
    • (1986) J Pediatr , vol.109 , pp. 231-241
    • Schmickel, R.D.1
  • 14
    • 0002817593 scopus 로고    scopus 로고
    • Molecular cytogenetics of contiguous gene syndromes: Mechanisms and consequences of gene dosage imbalance
    • Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, VogelsteinB (eds) Metabolic and molecular basis of inherited disease, 8th ed. McGraw Hill, New York
    • (2001)
    • Shaffer, L.G.1    Ledbetter, D.H.2    Lupski, J.R.3
  • 16
    • 0033527733 scopus 로고    scopus 로고
    • Site-specific heterodimerization by paired class homeodomain proteins mediates selective transcriptional responses
    • (1999) J Biol Chem , vol.274 , pp. 32325-32332
    • Tucker, S.C.1    Wisdom, R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.