메뉴 건너뛰기




Volumn 14, Issue 5, 2006, Pages 543-548

MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34

Author keywords

Chromosome 9q34.3; Mental retardation; Micropenis; Obesity; Retinal dystrophy; Subtelomeric linkage

Indexed keywords

DNA;

EID: 33646055192     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201577     Document Type: Article
Times cited : (52)

References (23)
  • 1
    • 1442274810 scopus 로고    scopus 로고
    • Establishing a connection between cilia and Bardet-Biedl Syndrome
    • Mykytyn K, Sheffield VC: Establishing a connection between cilia and Bardet-Biedl Syndrome. Trends Mol Med 2004; 10: 106-109.
    • (2004) Trends Mol Med , vol.10 , pp. 106-109
    • Mykytyn, K.1    Sheffield, V.C.2
  • 2
    • 0036699538 scopus 로고    scopus 로고
    • Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
    • Mykytyn K, Nishimura DY, Searby CC et al: Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet 2002; 31: 435-438.
    • (2002) Nat Genet , vol.31 , pp. 435-438
    • Mykytyn, K.1    Nishimura, D.Y.2    Searby, C.C.3
  • 3
    • 0035311942 scopus 로고    scopus 로고
    • Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
    • Nishimura DY, Searby CC, Carmi R et al: Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Mol Genet 2001; 10: 865-874.
    • (2001) Hum Mol Genet , vol.10 , pp. 865-874
    • Nishimura, D.Y.1    Searby, C.C.2    Carmi, R.3
  • 4
    • 0031855921 scopus 로고    scopus 로고
    • Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype
    • Young T-L, Woods MO, Parfrey PS et al: Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype. Am J Med Genet 1998; 78: 461-467.
    • (1998) Am J Med Genet , vol.78 , pp. 461-467
    • Young, T.-L.1    Woods, M.O.2    Parfrey, P.S.3
  • 5
    • 0034967274 scopus 로고    scopus 로고
    • Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
    • Mykytyn K, Braun T, Carmi R et al: Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nat Genet 2001; 28: 188-191.
    • (2001) Nat Genet , vol.28 , pp. 188-191
    • Mykytyn, K.1    Braun, T.2    Carmi, R.3
  • 6
    • 0033358082 scopus 로고    scopus 로고
    • A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31
    • Young T-L, Penney L, Woods MO et al: A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31. Am J Hum Genet 1999; 64: 900-904.
    • (1999) Am J Hum Genet , vol.64 , pp. 900-904
    • Young, T.-L.1    Penney, L.2    Woods, M.O.3
  • 7
    • 0033812186 scopus 로고    scopus 로고
    • Mutations in MKKS cause Bardet-Biedl syndrome
    • Slavotinek AM, Stone EM, Mykytyn K et al: Mutations in MKKS cause Bardet-Biedl syndrome. Nat Genet 2000; 26: 15-16.
    • (2000) Nat Genet , vol.26 , pp. 15-16
    • Slavotinek, A.M.1    Stone, E.M.2    Mykytyn, K.3
  • 8
    • 0033822064 scopus 로고    scopus 로고
    • Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome
    • Katsanis N, Beales PL, Woods MO et al: Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat Genet 2000; 26: 67-70.
    • (2000) Nat Genet , vol.26 , pp. 67-70
    • Katsanis, N.1    Beales, P.L.2    Woods, M.O.3
  • 9
    • 0037371508 scopus 로고    scopus 로고
    • Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2
    • Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N: Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet 2003; 72: 650-658.
    • (2003) Am J Hum Genet , vol.72 , pp. 650-658
    • Badano, J.L.1    Ansley, S.J.2    Leitch, C.C.3    Lewis, R.A.4    Lupski, J.R.5    Katsanis, N.6
  • 10
    • 0142104970 scopus 로고    scopus 로고
    • Basel body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
    • Ansley SJ, Badano JL, Blacque OE et al: Basel body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 2003; 425: 628-633.
    • (2003) Nature , vol.425 , pp. 628-633
    • Ansley, S.J.1    Badano, J.L.2    Blacque, O.E.3
  • 11
    • 1842579395 scopus 로고    scopus 로고
    • The oligogenic properties of Bardet-Biedl syndrome
    • Katsanis N: The oligogenic properties of Bardet-Biedl syndrome. Hum Mol Genet 2004; 13: R65-R71.
    • (2004) Hum Mol Genet , vol.13
    • Katsanis, N.1
  • 12
    • 0035425580 scopus 로고    scopus 로고
    • Cohen syndrome: Essential features, natural history, and heterogeneity
    • Kivitie-KaElio S, Norio R: Cohen syndrome: essential features, natural history, and heterogeneity. Am J Med Genet 2001; 102: 125-135.
    • (2001) Am J Med Genet , vol.102 , pp. 125-135
    • Kivitie-Kallio, S.1    Norio, R.2
  • 14
    • 0028240980 scopus 로고
    • Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping
    • Reed PW, Davies JL, Copeman JB et al: Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping. Nat Genet 1994; 7: 390-395.
    • (1994) Nat Genet , vol.7 , pp. 390-395
    • Reed, P.W.1    Davies, J.L.2    Copeman, J.B.3
  • 15
    • 0033990048 scopus 로고    scopus 로고
    • Primer3 on the WWW for general users and for biologist programmers
    • Misener S, Krawetz SA (eds): Totowa, NJ: Humana Press
    • Rozen S, Skaletsky HJ: Primer3 on the WWW for general users and for biologist programmers; in Misener S, Krawetz SA (eds): Bioinformatics Methods and Protocols: Methods in Molecular Biology. Totowa, NJ: Humana Press, 2000, pp 365-386.
    • (2000) Bioinformatics Methods and Protocols: Methods in Molecular Biology , pp. 365-386
    • Rozen, S.1    Skaletsky, H.J.2
  • 16
    • 0032964297 scopus 로고    scopus 로고
    • BLAST 2 sequences, a new tool for comparing protein and nucleotide sequences
    • Tatusova TA, Madden TL: BLAST 2 sequences, a new tool for comparing protein and nucleotide sequences. FEMS Microbiol Lett 1999; 174: 247-250.
    • (1999) FEMS Microbiol Lett , vol.174 , pp. 247-250
    • Tatusova, T.A.1    Madden, T.L.2
  • 17
    • 0004235298 scopus 로고
    • American Psychiatric Association: Washington, DC: American Psychiatric Association
    • American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders (DSM IV). Washington, DC: American Psychiatric Association, 1994.
    • (1994) Diagnostic and Statistical Manual of Mental Disorders (DSM IV)
  • 18
    • 0032231941 scopus 로고    scopus 로고
    • PedCheck: A program for identification of genotype incompatibilities in linkage analysis
    • O'CoAnell JR, Weeks DE: PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 1998; 63: 259-266.
    • (1998) Am J Hum Genet , vol.63 , pp. 259-266
    • O'Connell, J.R.1    Weeks, D.E.2
  • 19
    • 0029886532 scopus 로고    scopus 로고
    • Parametric and nonparametric linkage analysis: A unified multipoint approach
    • Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES: Parametric and nonparametric linkage analysis: A unified multipoint approach. Am J Hum Genet 1996; 58: 1347-1363.
    • (1996) Am J Hum Genet , vol.58 , pp. 1347-1363
    • Kruglyak, L.1    Daly, M.J.2    Reeve-Daly, M.P.3    Lander, E.S.4
  • 20
    • 0033062278 scopus 로고    scopus 로고
    • New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey
    • Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA: New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey. J Med Genet 1999; 36: 437-446.
    • (1999) J Med Genet , vol.36 , pp. 437-446
    • Beales, P.L.1    Elcioglu, N.2    Woolf, A.S.3    Parker, D.4    Flinter, F.A.5
  • 21
    • 0032963190 scopus 로고    scopus 로고
    • Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: Evidence for a fifth locus
    • Woods MO, Young T-L, Parfrey PS, Hefferton D, Green JS, Davidson WS: Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: Evidence for a fifth locus. Genomics 1999; 55: 2-9.
    • (1999) Genomics , vol.55 , pp. 2-9
    • Woods, M.O.1    Young, T.-L.2    Parfrey, P.S.3    Hefferton, D.4    Green, J.S.5    Davidson, W.S.6
  • 22
    • 22144436963 scopus 로고    scopus 로고
    • G protein betagamma subunits and AGS3 control spindle orientation and asymmetric cell fate of cerebral cortical progenitors
    • Sanada K, Tsai L-H: G protein betagamma subunits and AGS3 control spindle orientation and asymmetric cell fate of cerebral cortical progenitors. Cell 2005; 122: 119-131.
    • (2005) Cell , vol.122 , pp. 119-131
    • Sanada, K.1    Tsai, L.-H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.