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Volumn 42, Issue 10, 2005, Pages 780-786

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN PHF8; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

EID: 26944461197     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.029439     Document Type: Article
Times cited : (185)

References (20)
  • 1
    • 0019193212 scopus 로고
    • Nonspecific X-linked mental retardation II: The frequency in British Columbia
    • Herbst DS, Miller JR. Nonspecific X-linked mental retardation II: the frequency in British Columbia. Am J Med Genet 1980;7:461-9.
    • (1980) Am J Med Genet , vol.7 , pp. 461-469
    • Herbst, D.S.1    Miller, J.R.2
  • 2
    • 0344099480 scopus 로고    scopus 로고
    • Clinical and molecular contributions to the understanding of X-linked mental retardation
    • Stevenson RE, Schwartz CE. Clinical and molecular contributions to the understanding of X-linked mental retardation. Cytogenet Genome Res 2002;99:265-75.
    • (2002) Cytogenet Genome Res , vol.99 , pp. 265-275
    • Stevenson, R.E.1    Schwartz, C.E.2
  • 3
    • 2942587162 scopus 로고    scopus 로고
    • X-linked mental retardation (XLMR): From clinical conditions to cloned genes
    • Chiurazzi P, Tabolacci E, Neri G. X-linked mental retardation (XLMR): from clinical conditions to cloned genes. Crit Rev Clin Lab Sci 2004;41:117-58.
    • (2004) Crit Rev Clin Lab Sci , vol.41 , pp. 117-158
    • Chiurazzi, P.1    Tabolacci, E.2    Neri, G.3
  • 4
    • 0035464960 scopus 로고    scopus 로고
    • Monogenic causes of X-linked mental retardation
    • Chelly J, Mandel JL. Monogenic causes of X-linked mental retardation. Nat Rev Genet 2001;2:669-80.
    • (2001) Nat Rev Genet , vol.2 , pp. 669-680
    • Chelly, J.1    Mandel, J.L.2
  • 5
  • 8
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations inX-linked MECP2, encoding methyl-CpG-binding protein 2
    • Amir RE, van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations inX-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999;23:185-8.
    • (1999) Nat Genet , vol.23 , pp. 185-188
    • Amir, R.E.1    Van Den Veyver, I.B.2    Wan, M.3    Tran, C.Q.4    Francke, U.5    Zoghbi, H.Y.6
  • 10
    • 0036793859 scopus 로고    scopus 로고
    • Coffin-Lowry syndrome: Clinical and molecular features
    • Hanauer A, Young ID. Coffin-Lowry syndrome: clinical and molecular features. J Med Genet 2002;39:705-13.
    • (2002) J Med Genet , vol.39 , pp. 705-713
    • Hanauer, A.1    Young, I.D.2
  • 13
    • 0030007791 scopus 로고    scopus 로고
    • Study of X-linked mental retardation (XLMR): Summary of 61 families in the Miami/Greenwood study
    • Lubs HA, Schwartz CE, Stevenson RE, Arena JF. Study of X-linked mental retardation (XLMR): Summary of 61 families in the Miami/Greenwood study. Am J Med Genet 1996;64:169-75.
    • (1996) Am J Med Genet , vol.64 , pp. 169-175
    • Lubs, H.A.1    Schwartz, C.E.2    Stevenson, R.E.3    Arena, J.F.4
  • 15
    • 0033407103 scopus 로고    scopus 로고
    • W syndrome: Report of three cases and review
    • Goizet C, Bonneau D, Lacombe D. W syndrome: report of three cases and review. Am J Med Genet 1999;87:446-9.
    • (1999) Am J Med Genet , vol.87 , pp. 446-449
    • Goizet, C.1    Bonneau, D.2    Lacombe, D.3
  • 18
    • 0035150397 scopus 로고    scopus 로고
    • JmjC: Cupin metalloenzyme-like domains in jumonji, hairless and phospholipase A2beta
    • Clissold PM, Ponting CP. JmjC: cupin metalloenzyme-like domains in jumonji, hairless and phospholipase A2beta. Trends Biochem Sci 2001;26:7-9.
    • (2001) Trends Biochem Sci , vol.26 , pp. 7-9
    • Clissold, P.M.1    Ponting, C.P.2
  • 20
    • 0030961091 scopus 로고    scopus 로고
    • Mouse DII3: A novel divergent Delta gene which may complement the function of other Delta homologues during early pattern formation in the mouse embryo
    • Dunwoodie SL, Henrique D, Harrison SM, Beddington RS. Mouse DII3: a novel divergent Delta gene which may complement the function of other Delta homologues during early pattern formation in the mouse embryo. Development 1997;124:3065-76.
    • (1997) Development , vol.124 , pp. 3065-3076
    • Dunwoodie, S.L.1    Henrique, D.2    Harrison, S.M.3    Beddington, R.S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.