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Volumn 34, Issue 11, 1997, Pages 899-903

Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly

Author keywords

Chromosome 7q; Holoprosencephaly; Reciprocal translocation; Sonic Hedgehog gene

Indexed keywords

SONIC HEDGEHOG PROTEIN;

EID: 16944362007     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.11.899     Document Type: Article
Times cited : (20)

References (24)
  • 1
    • 0024317567 scopus 로고
    • Perspectives on holoprosencephaly. Part I. Epidemiology, genetics and syndromology
    • Cohen MM. Perspectives on holoprosencephaly. Part I. Epidemiology, genetics and syndromology. Teratology 1989;40:211-35.
    • (1989) Teratology , vol.40 , pp. 211-235
    • Cohen, M.M.1
  • 2
    • 0024427123 scopus 로고
    • Perspectives on holoprosencephaly. Part III. Spectra, distinctions, continuities and discontinuities
    • Cohen MM. Perspectives on holoprosencephaly. Part III. Spectra, distinctions, continuities and discontinuities. Am J Med Genet 1989;34:271-88.
    • (1989) Am J Med Genet , vol.34 , pp. 271-288
    • Cohen, M.M.1
  • 3
    • 0026339876 scopus 로고
    • Report on the Commitee on clinical disorders, chromosome aberrations and uniparental disomy
    • Frezal J, Schinzel A. Report on the Commitee on clinical disorders, chromosome aberrations and uniparental disomy. Cytogenet Cell Genet 1991;58:986-1052.
    • (1991) Cytogenet Cell Genet , vol.58 , pp. 986-1052
    • Frezal, J.1    Schinzel, A.2
  • 4
    • 0021321124 scopus 로고
    • Cyclopia and cebocephaly in two newborn infants with unbalanced segregation of a familial translocation rep (1;7) (q32;q34)
    • Schinzel A. Cyclopia and cebocephaly in two newborn infants with unbalanced segregation of a familial translocation rep (1;7) (q32;q34). Am J Med Genet 1984;18:153-61.
    • (1984) Am J Med Genet , vol.18 , pp. 153-161
    • Schinzel, A.1
  • 5
    • 0024462628 scopus 로고
    • Case of cyclopia with an unbalanced karyotype attributable to a balanced 3/7 translocation
    • Bürrig KF, Gebauer J, Terinde R, Pfitzer P. Case of cyclopia with an unbalanced karyotype attributable to a balanced 3/7 translocation. Clin Genet 1989;36:262-5.
    • (1989) Clin Genet , vol.36 , pp. 262-265
    • Bürrig, K.F.1    Gebauer, J.2    Terinde, R.3    Pfitzer, P.4
  • 8
    • 0025821020 scopus 로고
    • Familial holoprosencephaly associated with a translocation breakpoint at chromosomal position 7q36
    • Hatziioannou AG, Krauss CM, Lewis MB, Halazonetis TD. Familial holoprosencephaly associated with a translocation breakpoint at chromosomal position 7q36. Am J Med Genet 1991;40:201-5.
    • (1991) Am J Med Genet , vol.40 , pp. 201-205
    • Hatziioannou, A.G.1    Krauss, C.M.2    Lewis, M.B.3    Halazonetis, T.D.4
  • 10
    • 0027238926 scopus 로고
    • Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-7qter
    • Morichon-Delvallez N, Delezoide AL, Vekemans M. Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-7qter. J Med Genet 1993;30:521-4.
    • (1993) J Med Genet , vol.30 , pp. 521-524
    • Morichon-Delvallez, N.1    Delezoide, A.L.2    Vekemans, M.3
  • 11
    • 0027435720 scopus 로고
    • Prenatal diagnosis of a fetus with partial monosomy 7 (q34-qter) and partial trisomy 18 (q21-qter)
    • Pluchon E, Gioyangrandi Y, Labbe F, et al. Prenatal diagnosis of a fetus with partial monosomy 7 (q34-qter) and partial trisomy 18 (q21-qter). Prenat Diagn 1993;13:983-8.
    • (1993) Prenat Diagn , vol.13 , pp. 983-988
    • Pluchon, E.1    Gioyangrandi, Y.2    Labbe, F.3
  • 12
    • 0027477150 scopus 로고
    • Physical mapping of the holoprosencephaly critical region on chromosome 7q36
    • Gurrieri F, Trask BJ, Van den Engh G, et al. Physical mapping of the holoprosencephaly critical region on chromosome 7q36. Nat Genet 1993;3:247-51.
    • (1993) Nat Genet , vol.3 , pp. 247-251
    • Gurrieri, F.1    Trask, B.J.2    Van Den Engh, G.3
  • 13
    • 0028023154 scopus 로고
    • Linkage of human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity
    • Muenke M, Gurrieri F, Bay C, et al. Linkage of human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. Proc Natl Acad Sci USA 1994;91:8102-6.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 8102-8106
    • Muenke, M.1    Gurrieri, F.2    Bay, C.3
  • 14
    • 0030023636 scopus 로고    scopus 로고
    • Isoladon of cDNA and genomic clones of a human Ras-related GTP-binding protein gene and its chromosomal localization to the long arm of chromosome 7,7q36
    • Mizuki N, Kimura M, Ohno S, et al. Isoladon of cDNA and genomic clones of a human Ras-related GTP-binding protein gene and its chromosomal localization to the long arm of chromosome 7,7q36. Genomics 1996;34:114-18.
    • (1996) Genomics , vol.34 , pp. 114-118
    • Mizuki, N.1    Kimura, M.2    Ohno, S.3
  • 15
    • 0029777408 scopus 로고    scopus 로고
    • Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
    • Chiang C, Litingtung Y, Lee E, et al. Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature 1996;383:407-13.
    • (1996) Nature , vol.383 , pp. 407-413
    • Chiang, C.1    Litingtung, Y.2    Lee, E.3
  • 16
    • 16144368562 scopus 로고    scopus 로고
    • Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly
    • Belloni E, Muenke M, Roessler E, et al. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet 1996;14:353-6.
    • (1996) Nat Genet , vol.14 , pp. 353-356
    • Belloni, E.1    Muenke, M.2    Roessler, E.3
  • 17
    • 0030294408 scopus 로고    scopus 로고
    • Mutations in the human Sonic hedgehog gene cause holoprosencephaly
    • Roessler E, Belloni E, Gaudenz K, et al. Mutations in the human Sonic hedgehog gene cause holoprosencephaly. Nat Genet 1996;14:357-60.
    • (1996) Nat Genet , vol.14 , pp. 357-360
    • Roessler, E.1    Belloni, E.2    Gaudenz, K.3
  • 18
    • 0028865448 scopus 로고
    • Lumbosacral agenesis: Clinical characteristics, imaging and embryogenesis
    • Harlow CL, Partington MD, Thieme GA. Lumbosacral agenesis: clinical characteristics, imaging and embryogenesis. Pediatr Neurosurg 1995;23:140-7.
    • (1995) Pediatr Neurosurg , vol.23 , pp. 140-147
    • Harlow, C.L.1    Partington, M.D.2    Thieme, G.A.3
  • 19
    • 0029115664 scopus 로고
    • A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36
    • Lynch SA, Bond FM, Copp AJ, et al. A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. Nat Genet 1995;11:93-5.
    • (1995) Nat Genet , vol.11 , pp. 93-95
    • Lynch, S.A.1    Bond, F.M.2    Copp, A.J.3
  • 20
    • 0029041177 scopus 로고
    • Long range sclerotome induction by Sonic Hedgehog: Direct role of the amino-terminal cleavage product and modulation by the cyclic AMP signaling pathway
    • Fan CM, Porter JA, Chiang C, Chang DT, Beachy PA, Tessier-Lavigne M. Long range sclerotome induction by Sonic Hedgehog: direct role of the amino-terminal cleavage product and modulation by the cyclic AMP signaling pathway. Cell 1995;81:457-65.
    • (1995) Cell , vol.81 , pp. 457-465
    • Fan, C.M.1    Porter, J.A.2    Chiang, C.3    Chang, D.T.4    Beachy, P.A.5    Tessier-Lavigne, M.6
  • 21
    • 0025122395 scopus 로고
    • Sonography of facial features of alobar and semilobar holoprosencephaly
    • McGahan JP, Nyberg DA, Mack LA. Sonography of facial features of alobar and semilobar holoprosencephaly. AJR 1990;154:143-8.
    • (1990) AJR , vol.154 , pp. 143-148
    • McGahan, J.P.1    Nyberg, D.A.2    Mack, L.A.3
  • 22
    • 0025777771 scopus 로고
    • Holoprosencephalypolydactyly (pseudotrisomy 13) syndrome: A syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study
    • Verloes A, Ayme S, Gambarelli D, et al. Holoprosencephalypolydactyly (pseudotrisomy 13) syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. J Med Genet 1991;28:297-303.
    • (1991) J Med Genet , vol.28 , pp. 297-303
    • Verloes, A.1    Ayme, S.2    Gambarelli, D.3
  • 24
    • 0029943141 scopus 로고    scopus 로고
    • Perturbation of nuclear architecture by long-distance chromosome interactions
    • Dernburg AF, Broman KW, Fung JC, et al. Perturbation of nuclear architecture by long-distance chromosome interactions. Cell 1996;85:745-59.
    • (1996) Cell , vol.85 , pp. 745-759
    • Dernburg, A.F.1    Broman, K.W.2    Fung, J.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.