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Volumn 88, Issue 9, 2010, Pages 757-761

Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous Iranian family

Author keywords

Bladder exstrophy epispadias complex; Epispadias; Exstrophy; Genome wide linkage analysis (GWLA); Linkage analysis; SNP markers

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLADDER EXSTROPHY; BLADDER EXSTROPHY EPISPADIA COMPLEX; CASE REPORT; CHROMOSOME 19Q; CHROMOSOME 4Q; CONSANGUINEOUS MARRIAGE; EPISPADIAS; FEMALE; GENETIC ASSOCIATION; GENETIC LINKAGE; HAPLOTYPE; HUMAN; IRAN; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 77956913773     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.20701     Document Type: Article
Times cited : (8)

References (20)
  • 1
    • 0034842930 scopus 로고    scopus 로고
    • GRR: Graphical representation of relationship errors
    • Abecasis GR, Cherny SS, Cookson WO, et al. 2001. GRR: graphical representation of relationship errors. Bioinformatics 17:742-743.
    • (2001) Bioinformatics , vol.17 , pp. 742-743
    • Abecasis, G.R.1    Cherny, S.S.2    Cookson, W.O.3
  • 2
    • 0036338150 scopus 로고    scopus 로고
    • Merlin - Rapid analysis of dense genetic maps using sparse gene flow trees
    • Abecasis GR, Cherny SS, Cookson WO, et al. 2002. Merlin - rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30:97-101.
    • (2002) Nat Genet , vol.30 , pp. 97-101
    • Abecasis, G.R.1    Cherny, S.S.2    Cookson, W.O.3
  • 3
    • 11144243414 scopus 로고    scopus 로고
    • Clinical and molecular characterization of the bladder exstrophy-epispadias complex: Analysis of 232 families
    • Boyadjiev SA, Dodson JL, Radford CL, et al. 2004. Clinical and molecular characterization of the bladder exstrophy-epispadias complex: analysis of 232 families. BJU Int 94:1337-1343.
    • (2004) BJU Int , vol.94 , pp. 1337-1343
    • Boyadjiev, S.A.1    Dodson, J.L.2    Radford, C.L.3
  • 4
    • 0035313949 scopus 로고    scopus 로고
    • Exstrophy of the cloaca and the OEIS complex: One and the same
    • Carey JC. 2001. Exstrophy of the cloaca and the OEIS complex: one and the same. Am J Med Genet 99:270.
    • (2001) Am J Med Genet , vol.99 , pp. 270
    • Carey, J.C.1
  • 5
    • 40849133682 scopus 로고    scopus 로고
    • Epidemiological survey of 214 families with bladder exstrophy-epispadias complex
    • Gambhir L, Höller T, Müller M, et al. 2008. Epidemiological survey of 214 families with bladder exstrophy-epispadias complex. J Urol 179:1539-1543.
    • (2008) J Urol , vol.179 , pp. 1539-1543
    • Gambhir, L.1    Höller, T.2    Müller, M.3
  • 6
    • 0001836247 scopus 로고    scopus 로고
    • Exstrophy, epispadias, and other bladder anomalies
    • Walsh PC, Retik AB, Vaughan ED, Wein AJ, editors. 8th ed. Philadelphia: WB Saunders
    • Gearhart JP. 2002. Exstrophy, epispadias, and other bladder anomalies. In: Walsh PC, Retik AB, Vaughan ED, Wein AJ, editors. Campbell's urology, 8th ed. Philadelphia: WB Saunders. pp.2136-2196.
    • (2002) Campbell's Urology , pp. 2136-2196
    • Gearhart, J.P.1
  • 7
    • 8844250042 scopus 로고    scopus 로고
    • Ignoring linkage disequilibrium among tightly linked markers induces false-positive evidence of linkage for affected sib pair analysis
    • Huang Q, Shete S, Amos CI. 2004. Ignoring linkage disequilibrium among tightly linked markers induces false-positive evidence of linkage for affected sib pair analysis. Am J Hum Genet 75:1106-1112.
    • (2004) Am J Hum Genet , vol.75 , pp. 1106-1112
    • Huang, Q.1    Shete, S.2    Amos, C.I.3
  • 8
    • 0018867334 scopus 로고
    • A family study of bladder exstrophy
    • Ives E, Coffey R, Carter CO, et al. 1980. A family study of bladder exstrophy. J Med Genet 17:139-141.
    • (1980) J Med Genet , vol.17 , pp. 139-141
    • Ives, E.1    Coffey, R.2    Carter, C.O.3
  • 9
    • 20944448235 scopus 로고    scopus 로고
    • Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs
    • Jadeja S, Smyth I, Pitera JE, et al. 2005. Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nat Genet 37:520-525.
    • (2005) Nat Genet , vol.37 , pp. 520-525
    • Jadeja, S.1    Smyth, I.2    Pitera, J.E.3
  • 10
    • 33748422512 scopus 로고    scopus 로고
    • Bladder exstrophy and epispadias complex in sibling: Case report and review of literature
    • Kajbafzadeh AM, Tajik P, Payabvash S, et al. 2006. Bladder exstrophy and epispadias complex in sibling: case report and review of literature. Pediatr Surg Int 22:767-770.
    • (2006) Pediatr Surg Int , vol.22 , pp. 767-770
    • Kajbafzadeh, A.M.1    Tajik, P.2    Payabvash, S.3
  • 13
    • 77950627751 scopus 로고    scopus 로고
    • 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment
    • Lundin J, Söderhäll C, Lundén L, et al. 2010. 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment. Eur J Med Genet 53:61-65.
    • (2010) Eur J Med Genet , vol.53 , pp. 61-65
    • Lundin, J.1    Söderhäll, C.2    Lundén, L.3
  • 14
    • 0037872680 scopus 로고    scopus 로고
    • Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein
    • McGregor L, Makela V, Darling SM, et al. 2003. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat Genet 34:203-208.
    • (2003) Nat Genet , vol.34 , pp. 203-208
    • McGregor, L.1    Makela, V.2    Darling, S.M.3
  • 15
    • 0034056709 scopus 로고    scopus 로고
    • Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies
    • Nye JS, Hayes EA, Amendola M, et al. 2000. Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies. Teratology 61:165-171.
    • (2000) Teratology , vol.61 , pp. 165-171
    • Nye, J.S.1    Hayes, E.A.2    Amendola, M.3
  • 16
    • 0032231941 scopus 로고    scopus 로고
    • PedCheck: A program for identification of genotype incompatibilities in linkage analysis
    • O'Connell JR, Weeks DE. 1998. PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63:259-266.
    • (1998) Am J Hum Genet , vol.63 , pp. 259-266
    • O'Connell, J.R.1    Weeks, D.E.2
  • 17
    • 0042322985 scopus 로고    scopus 로고
    • Seven new cases of familial isolated bladder exstrophy and epispadias complex (BEEC) and review of the literature
    • Reutter H, Shapiro E, Gruen JR, et al. 2003. Seven new cases of familial isolated bladder exstrophy and epispadias complex (BEEC) and review of the literature. Am J Med Genet A 120A:215-221.
    • (2003) Am J Med Genet A , vol.120 A , pp. 215-221
    • Reutter, H.1    Shapiro, E.2    Gruen, J.R.3
  • 18
    • 17444373392 scopus 로고    scopus 로고
    • ALOHOMORA: A tool for linkage analysis using 10K SNP array data
    • Rüschendorf F, Nürnberg P. 2005. ALOHOMORA: a tool for linkage analysis using 10K SNP array data. Bioinformatics 21:2123-2125.
    • (2005) Bioinformatics , vol.21 , pp. 2123-2125
    • Rüschendorf, F.1    Nürnberg, P.2
  • 19
    • 0021210530 scopus 로고
    • The inheritance of the exstrophy-epispadias complex
    • Shapiro E, Lepor H, Jeffs RD, et al. 1984. The inheritance of the exstrophy-epispadias complex. J Urol 132:308-310.
    • (1984) J Urol , vol.132 , pp. 308-310
    • Shapiro, E.1    Lepor, H.2    Jeffs, R.D.3
  • 20
    • 34547634419 scopus 로고    scopus 로고
    • Distribution of 15 human kallikreins in tissues and biological fluids
    • Shaw JLV, Diamandis EP. 2007. Distribution of 15 human kallikreins in tissues and biological fluids. Clin Chem 53:1423-1432.
    • (2007) Clin Chem , vol.53 , pp. 1423-1432
    • Shaw, J.L.V.1    Diamandis, E.P.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.