메뉴 건너뛰기




Volumn 72, Issue 2, 2003, Pages 429-437

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)

(21)  Mykytyn, Kirk a,b   Nishimura, Darryl Y a,b   Searby, Charles C a,b   Beck, Gretel a,b   Bugge, Kevin a,b   Haines, Heidi L b   Cornier, Alberto S c   Cox, Gerald F i   Fulton, Anne B i   Carmi, Rivka d   Iannaccone, Alessandro i   Jacobson, Samuel G i   Weleber, Richard G e   Wright, Alan F f   Riise, Ruth g   Hennekam, Raoul C M i   Lüleci, Güven h   Berker Karauzum, Sibel h   Biesecker, Leslie G i   Stone, Edwin M b   more..

i NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BARDET BIEDL SYNDROME; CHROMOSOMAL LOCALIZATION; CHROMOSOME 11Q; CHROMOSOME 15Q; CHROMOSOME 16Q; CHROMOSOME 20P; CHROMOSOME 2Q; CHROMOSOME 3P; COHORT ANALYSIS; CONGENITAL HEART DISEASE; DIABETES MELLITUS; DISEASE ASSOCIATION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC CONSERVATION; GENETIC DISORDER; GENOTYPE; HAPLOTYPE; HUMAN; HYPERTENSION; HYPOGONADISM; INHERITANCE; KIDNEY MALFORMATION; MENTAL RETARDATION MALFORMATION SYNDROME; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OBESITY; POLYDACTYLY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINOPATHY;

EID: 0037322689     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/346172     Document Type: Article
Times cited : (101)

References (20)
  • 1
    • 0025835296 scopus 로고
    • Fast and sensitive silver staining of DNA in polyacrylamide gels
    • Bassam BJ, Caetano-Anolles G, Gresshoff PM (1991) Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal Biochem 196:80-83
    • (1991) Anal Biochem , vol.196 , pp. 80-83
    • Bassam, B.J.1    Caetano-Anolles, G.2    Gresshoff, P.M.3
  • 2
    • 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 (1999) New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 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
  • 5
    • 0027963165 scopus 로고
    • Cardiac abnormalities in the Bardet-Biedl syndrome: Echocardiographic studies of 22 patients
    • Elbedour K, Zucker N, Zalzstein E, Barki Y, Carmi R (1994) Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients. Am J Med Genet 52:164-169
    • (1994) Am J Med Genet , vol.52 , pp. 164-169
    • Elbedour, K.1    Zucker, N.2    Zalzstein, E.3    Barki, Y.4    Carmi, R.5
  • 12
    • 0028128537 scopus 로고
    • Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous
    • Leppert M, Baird L, Anderson KL, Otterud B, Lupski JR, Lewis RA (1994) Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. Nat Genet 7:108-112
    • (1994) Nat Genet , vol.7 , pp. 108-112
    • Leppert, M.1    Baird, L.2    Anderson, K.L.3    Otterud, B.4    Lupski, J.R.5    Lewis, R.A.6
  • 17
    • 0036822557 scopus 로고    scopus 로고
    • The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene
    • Riise R, Tornqvist K, Wright AF, Mykytyn K, Sheffield VC (2002) The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene. Arch Ophthalmol 120:1364-1367
    • (2002) Arch Ophthalmol , vol.120 , pp. 1364-1367
    • Riise, R.1    Tornqvist, K.2    Wright, A.F.3    Mykytyn, K.4    Sheffield, V.C.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.