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Volumn 140, Issue 21, 2006, Pages 2368-2373

Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12 [2]

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; CHROMOSOMAL INSTABILITY; CHROMOSOME 4Q; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; FOUNDER EFFECT; GENE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC MARKER; GENETIC RECOMBINATION; GENETIC RISK; GENOTYPE; HAPLOTYPE; HUMAN; LETTER; LUNG VEIN DRAINAGE ANOMALY; NUCLEOTIDE SEQUENCE; PEDIGREE; PENETRANCE; PRIORITY JOURNAL; SHORT TANDEM REPEAT; TAPVR 1 GENE; UNITED KINGDOM;

EID: 33750598299     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31471     Document Type: Letter
Times cited : (23)

References (29)
  • 1
    • 0034722846 scopus 로고    scopus 로고
    • Nonsyndromic total anomalous venous return associated with a de novo translocation involving chromosomes 10 and 21 t(10;21)(q23.1;q11.2)
    • Aquati F, Russo A, Taramelli R, Tibiletti MG, Taborelli M, Camesasca C, Papa M. 2000. Nonsyndromic total anomalous venous return associated with a de novo translocation involving chromosomes 10 and 21 t(10;21)(q23.1;q11.2). Am J Med Genet 95:285-286.
    • (2000) Am J Med Genet , vol.95 , pp. 285-286
    • Aquati, F.1    Russo, A.2    Taramelli, R.3    Tibiletti, M.G.4    Taborelli, M.5    Camesasca, C.6    Papa, M.7
  • 2
    • 0028071386 scopus 로고
    • Familial total anomalous pulmonary venous return: A large Utah-Idaho family
    • Bleyl S, Ruttenberg HD, Carey JC, Ward K. 1994. Familial total anomalous pulmonary venous return: A large Utah-Idaho family. Am J Med Genet 54:462-466.
    • (1994) Am J Med Genet , vol.54 , pp. 462-466
    • Bleyl, S.1    Ruttenberg, H.D.2    Carey, J.C.3    Ward, K.4
  • 4
    • 0242642844 scopus 로고    scopus 로고
    • Decreasing the burden of congenital heart anomalies: An epidemiologic evaluation of risk factors and survival
    • Botto LD, Correa A. 2003. Decreasing the burden of congenital heart anomalies: An epidemiologic evaluation of risk factors and survival. Progress in Ped Cardiol 18:111-112.
    • (2003) Progress in Ped Cardiol , vol.18 , pp. 111-112
    • Botto, L.D.1    Correa, A.2
  • 6
    • 0025871424 scopus 로고
    • Total anomalous pulmonary venous return: Familial and environmental factors
    • The Baltimore-Washington Infant Study Group
    • Correa-Villasenor A, Ferencz C, Boughman JA, Neill CA. 1991. Total anomalous pulmonary venous return: Familial and environmental factors. The Baltimore-Washington Infant Study Group. Teratology 44:415-428.
    • (1991) Teratology , vol.44 , pp. 415-428
    • Correa-Villasenor, A.1    Ferencz, C.2    Boughman, J.A.3    Neill, C.A.4
  • 7
    • 0014816859 scopus 로고
    • Total anomalous pulmonary venous connection: Clinical and physiologic observations in 75 pediatric patients
    • Gathman GE, Nadas AS. 1970. Total anomalous pulmonary venous connection: Clinical and physiologic observations in 75 pediatric patients. Circulation 42:143-154.
    • (1970) Circulation , vol.42 , pp. 143-154
    • Gathman, G.E.1    Nadas, A.S.2
  • 9
    • 0025373428 scopus 로고
    • Congenital heart disease: Incidence and inheritance
    • Hoffman JIE. 1990. Congenital heart disease: Incidence and inheritance. Ped Clin North Am 37:25-43.
    • (1990) Ped Clin North Am , vol.37 , pp. 25-43
    • Hoffman, J.I.E.1
  • 10
    • 0000846120 scopus 로고
    • Familial heart disease with skeletal malformations
    • Holt M, Oram S. 1960. Familial heart disease with skeletal malformations. Brit Heart J 22:236-242.
    • (1960) Brit Heart J , vol.22 , pp. 236-242
    • Holt, M.1    Oram, S.2
  • 11
  • 14
    • 28444496732 scopus 로고    scopus 로고
    • Cardiovascular malformations in Fryns syndrome: Is there a pathogenic role for the neural crest cells?
    • Lin AE, Pober BR, Mullen MP, Slavotinek AM. 2005. Cardiovascular malformations in Fryns syndrome: Is there a pathogenic role for the neural crest cells? Am J Med Genet Part A 139A:186-193.
    • (2005) Am J Med Genet Part A , vol.139 A , pp. 186-193
    • Lin, A.E.1    Pober, B.R.2    Mullen, M.P.3    Slavotinek, A.M.4
  • 15
    • 0030059073 scopus 로고    scopus 로고
    • An increased incidence of total anomalous pulmonary venous drainage among aboriginal Canadians
    • McCrindle BW, Wood MM, Collins GF, Wheatley B, Rowe RD. 1996. An increased incidence of total anomalous pulmonary venous drainage among aboriginal Canadians. Can J Cardiol 12:81-85.
    • (1996) Can J Cardiol , vol.12 , pp. 81-85
    • McCrindle, B.W.1    Wood, M.M.2    Collins, G.F.3    Wheatley, B.4    Rowe, R.D.5
  • 16
    • 0025880517 scopus 로고
    • Father and two children with total anomalous pulmonary venous return
    • Raisher BD, Dowton SB, Grant JW. 1991. Father and two children with total anomalous pulmonary venous return. Am J Med Genet 40:105-106.
    • (1991) Am J Med Genet , vol.40 , pp. 105-106
    • Raisher, B.D.1    Dowton, S.B.2    Grant, J.W.3
  • 17
    • 0025110206 scopus 로고
    • Five children with del (2)(q31q33) and one individual with dup (2)(q31q33) from a single family: Review of brain, cardiac, and limb malformations
    • Ramer JC, Mowrey PN, Robins DB, Ligato S, Towfighi J, Ladda RL. 1990. Five children with del (2)(q31q33) and one individual with dup (2)(q31q33) from a single family: Review of brain, cardiac, and limb malformations. Am J Med Genet 37:392-400.
    • (1990) Am J Med Genet , vol.37 , pp. 392-400
    • Ramer, J.C.1    Mowrey, P.N.2    Robins, D.B.3    Ligato, S.4    Towfighi, J.5    Ladda, R.L.6
  • 18
    • 0016840564 scopus 로고
    • Syndromes of asplenia and polysplenia: A review of cardiac and non-cardiac malformations in 60 cases with special reference to diagnosis and prognosis
    • Rose V, Izukawa T, Moes CAF. 1975. Syndromes of asplenia and polysplenia: A review of cardiac and non-cardiac malformations in 60 cases with special reference to diagnosis and prognosis. Brit Heart J 37:840-852.
    • (1975) Brit Heart J , vol.37 , pp. 840-852
    • Rose, V.1    Izukawa, T.2    Moes, C.A.F.3
  • 21
    • 0031005848 scopus 로고    scopus 로고
    • Ernenn deletion reveals a common X-chromosome inversion mediated by inverted repeats
    • Small K, Iber J, Warren ST. 1997. Ernenn deletion reveals a common X-chromosome inversion mediated by inverted repeats. Nat Genet 16:96-99.
    • (1997) Nat Genet , vol.16 , pp. 96-99
    • Small, K.1    Iber, J.2    Warren, S.T.3
  • 22
    • 0035071957 scopus 로고    scopus 로고
    • A new statistical method for haplotype reconstruction from population data
    • Stephens M, Smith NJ, Donnelly P. 2001. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68:978-989.
    • (2001) Am J Hum Genet , vol.68 , pp. 978-989
    • Stephens, M.1    Smith, N.J.2    Donnelly, P.3
  • 23
    • 0036590310 scopus 로고    scopus 로고
    • Familial pericentric inversion of chromosome 4: Inv (4)(p16.1q12)
    • Stipoljev F, Stanojevic M, Kurjak A. 2002. Familial pericentric inversion of chromosome 4: inv (4)(p16.1q12). Clin Genet 61:386-388.
    • (2002) Clin Genet , vol.61 , pp. 386-388
    • Stipoljev, F.1    Stanojevic, M.2    Kurjak, A.3
  • 24
    • 0001055944 scopus 로고
    • The relations of inversions in the X chromosome of Drosophila Melanogaster to crossing over and disjunction
    • Sturtevant AH, Beadle GW. 1936. The relations of inversions in the X chromosome of Drosophila Melanogaster to crossing over and disjunction. Genetics 21:554-600.
    • (1936) Genetics , vol.21 , pp. 554-600
    • Sturtevant, A.H.1    Beadle, G.W.2
  • 25
    • 79959503826 scopus 로고    scopus 로고
    • The International HapMap Consortium. The International HapMap Project
    • The International HapMap Consortium. 2003. The International HapMap Project. Nature 426:789-796.
    • (2003) Nature , vol.426 , pp. 789-796
  • 27
    • 0027161022 scopus 로고
    • Mutation of human short tandem repeats
    • Weber JL, Wong C. 1993. Mutation of human short tandem repeats. Hum Mol Genet 2:1123-1128.
    • (1993) Hum Mol Genet , vol.2 , pp. 1123-1128
    • Weber, J.L.1    Wong, C.2
  • 28
    • 0035888270 scopus 로고    scopus 로고
    • Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return
    • Wu CH, Hwu WL, Wang JK, Young C, Shinn-Forng Peng S, Kuo MF. 2001. Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return. Am J Med Gent 103:245-248.
    • (2001) Am J Med Gent , vol.103 , pp. 245-248
    • Wu, Ch.1    Hwu, W.L.2    Wang, J.K.3    Young, C.4    Shinn-Forng Peng, S.5    Kuo, M.F.6
  • 29
    • 0033591253 scopus 로고    scopus 로고
    • Corin, a mosaic tranmembrane serine protease encoded by a novel cDNA from human heart
    • Yan W, Sheng N, Seto M, Morser J, Wu Q. 1999. Corin, a mosaic tranmembrane serine protease encoded by a novel cDNA from human heart. J Biol Chem 274:14926-14935.
    • (1999) J Biol Chem , vol.274 , pp. 14926-14935
    • Yan, W.1    Sheng, N.2    Seto, M.3    Morser, J.4    Wu, Q.5


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