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Volumn 3, Issue 3, 2012, Pages 140-142

High intellectual function in individuals with mutation-positive microform holoprosencephaly

Author keywords

FGF8; GLI2; Holoprosencephaly; HPE; Microform; SHH; SIX3; Sonic Hedgehog

Indexed keywords

FGF8 PROTEIN; PROTEIN; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR GLI2; TRANSCRIPTION FACTOR SIX3; UNCLASSIFIED DRUG;

EID: 84866526267     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000341373     Document Type: Article
Times cited : (20)

References (9)
  • 1
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    • A hypo-morphic allele in the FGF8 gene contributes to holoprosencephaly and is allelic to gonad-otropin-releasing hormone deficiency in humans
    • Arauz RF, Solomon BD, Pineda-Alvarez DE, Gropman AL, Parsons JA, et al: A hypo-morphic allele in the FGF8 gene contributes to holoprosencephaly and is allelic to gonad-otropin-releasing hormone deficiency in humans. Mol Syndromol 1:59-66 (2010).
    • (2010) Mol Syndromol , vol.1 , pp. 59-66
    • Arauz, R.F.1    Solomon, B.D.2    Pineda-Alvarez, D.E.3    Gropman, A.L.4    Parsons, J.A.5    Et Al.6
  • 2
    • 33749472755 scopus 로고    scopus 로고
    • Holoprosencephaly: Clinical, anatomic, and molecular dimensions
    • Cohen MM Jr: Holoprosencephaly: clinical, anatomic, and molecular dimensions. Birth Defects Res A Clin Mol Teratol 76:658-673 (2006).
    • (2006) Birth Defects Res A Clin Mol Teratol , vol.76 , pp. 658-673
    • Cohen Jr., M.M.1
  • 3
    • 76149133123 scopus 로고    scopus 로고
    • Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation
    • Hahn JS, Barnes PD: Neuroimaging advances in holoprosencephaly: refining the spectrum of the midline malformation. Am J Med Genet C Semin Med Genet 154C:120-132 (2010).
    • (2010) Am J Med Genet C Semin Med Genet , vol.154 C , pp. 120-132
    • Hahn, J.S.1    Barnes, P.D.2
  • 4
    • 67449132620 scopus 로고    scopus 로고
    • Clinical spectrum of SIX3-associated mutations in holoprosencephaly: Correlation between genotype, phenotype and funct ion
    • Lacbawan F, S olomon BD, Roessler E, El-Jaick K, Domené S, et al: Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and funct ion. J Med Genet 46:389-398 (2009).
    • (2009) J Med Genet , vol.46 , pp. 389-398
    • Lacbawan, F.1    Solomon, B.D.2    Roessler, E.3    El-Jaick, K.4    Domené, S.5
  • 5
    • 81055157789 scopus 로고    scopus 로고
    • New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases
    • Mercier S, Dubourg C, Garcelon N, Campillo-Gimenez B, Gicquel I, et al: New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases. J Med Genet 48:752-760 (2011).
    • (2011) J Med Genet , vol.48 , pp. 752-760
    • Mercier, S.1    Dubourg, C.2    Garcelon, N.3    Campillo-Gimenez, B.4    Gicquel, I.5    Et Al.6
  • 7
    • 73349088745 scopus 로고    scopus 로고
    • The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis
    • Roessler E, El-Jaick KB, Dubourg C, Vélez JI, Solomon BD, et al: The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis. Hum Mutat 30:E921-935 (2009).
    • (2009) Hum Mutat , vol.30
    • Roessler, E.1    El-Jaick, K.B.2    Dubourg, C.3    Vélez, J.I.4    Solomon, B.D.5    Et Al.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.