메뉴 건너뛰기




Volumn 18, Issue 12, 1996, Pages 965-971

Analysing human developmental abnormalities

Author keywords

[No Author keywords available]

Indexed keywords


EID: 0030471308     PISSN: 02659247     EISSN: None     Source Type: Journal    
DOI: 10.1002/bies.950181206     Document Type: Review
Times cited : (19)

References (52)
  • 2
    • 0020086187 scopus 로고
    • Errors of morphogenesis: Concepts and terms
    • Spranger, J. et al. (1982). Errors of morphogenesis: concepts and terms. J. Pediatr 100, 160-165.
    • (1982) J. Pediatr , vol.100 , pp. 160-165
    • Spranger, J.1
  • 3
    • 0020679232 scopus 로고
    • Congenital malformations - Etiologic factors and their role in prevention
    • Kalter, H. and Warkany, J. (1983). Congenital malformations - etiologic factors and their role in prevention. New Engl. J. Med. 308, 424-431 and 491-497 (2 parts).
    • (1983) New Engl. J. Med. , vol.308 , Issue.2 PARTS , pp. 424-431
    • Kalter, H.1    Warkany, J.2
  • 6
    • 0025812172 scopus 로고
    • GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families
    • Vortkamp, A., Gessler, M. and Grzeschik, K.H. (1991). GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature 352, 539-540.
    • (1991) Nature , vol.352 , pp. 539-540
    • Vortkamp, A.1    Gessler, M.2    Grzeschik, K.H.3
  • 7
    • 0029243620 scopus 로고
    • Craniofacial syndromes: No such thing as a single gene disease
    • Mulvihill, J.J. (1995) Craniofacial syndromes: no such thing as a single gene disease. Nature Genet. 9, 101-103.
    • (1995) Nature Genet. , vol.9 , pp. 101-103
    • Mulvihill, J.J.1
  • 9
    • 0029115664 scopus 로고
    • A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36
    • Lynch, S.A. et al. (1995). A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. Nature Genet. 11, 93-95.
    • (1995) Nature Genet. , vol.11 , pp. 93-95
    • Lynch, S.A.1
  • 10
    • 0028879329 scopus 로고
    • A second autosomal split hand/split foot locus maps to chromosome 10q24-q25
    • Nunes, M.E. et al. (1995). A second autosomal split hand/split foot locus maps to chromosome 10q24-q25. Hum. Mol. Genet. 4, 2165-2170.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 2165-2170
    • Nunes, M.E.1
  • 11
    • 0011977665 scopus 로고
    • Holoprosencephaly as a genetic model for normal Craniofacial development
    • Muenke, M. (1994). Holoprosencephaly as a genetic model for normal Craniofacial development. Dev. Biol. 5, 293-301.
    • (1994) Dev. Biol. , vol.5 , pp. 293-301
    • Muenke, M.1
  • 12
    • 0028023154 scopus 로고
    • Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity
    • Muenke, M. et al.(1994). Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. Proc. Natl Acad. Sci. USA 91, 8102-8106.
    • (1994) Proc. Natl Acad. Sci. USA , vol.91 , pp. 8102-8106
    • Muenke, M.1
  • 13
    • 0027176708 scopus 로고
    • Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats
    • Reiner, O. et al. (1993). Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 346, 717-721.
    • (1993) Nature , vol.346 , pp. 717-721
    • Reiner, O.1
  • 14
    • 9044238292 scopus 로고
    • Systematic deletion analysis of MLS and ILS patients excludes a candidate gene and delineates a lissencephaly gene locus
    • Chong, S.S. et al. (1995). Systematic deletion analysis of MLS and ILS patients excludes a candidate gene and delineates a lissencephaly gene locus. Am. J. Hum. Genet. 57, A34.
    • (1995) Am. J. Hum. Genet. , vol.57
    • Chong, S.S.1
  • 15
    • 0028998317 scopus 로고
    • Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene
    • Budarf, M.L. et al. (1995). Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nature Genet. 10, 269-278.
    • (1995) Nature Genet. , vol.10 , pp. 269-278
    • Budarf, M.L.1
  • 16
    • 0027731681 scopus 로고
    • Isolation of a putative transriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease
    • Halford, S. et al. (1993). Isolation of a putative transriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease. Hum. Mol. Genet. 2, 2099-2108.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 2099-2108
    • Halford, S.1
  • 17
    • 0026895136 scopus 로고
    • Deletions and translocations involving the distal short arm of the human X chromosome: Review and hypotheses
    • Ballabio, A. and Andria, G. (1992). Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses. Hum. Mol. Genet. 1, 221-227.
    • (1992) Hum. Mol. Genet. , vol.1 , pp. 221-227
    • Ballabio, A.1    Andria, G.2
  • 18
    • 0002426287 scopus 로고
    • Steroid sulfatase deficiency and X-linked dichthyosis
    • (ed. C.R. Scriver, A.L. Beaudet, W.S. Sly and D. Valle), McGraw-Hill, New York
    • Ballabio, A., Shapiro. L.J. (1995). Steroid sulfatase deficiency and X-linked dichthyosis. In Metabolic and Molecular Basis of Inherited Disease (ed. C.R. Scriver, A.L. Beaudet, W.S. Sly and D. Valle), pp. 2999-3022. McGraw-Hill, New York.
    • (1995) Metabolic and Molecular Basis of Inherited Disease , pp. 2999-3022
    • Ballabio, A.1    Shapiro, L.J.2
  • 19
    • 0027438920 scopus 로고
    • Kallman syndrome. From genetics to neurobiology
    • Rugarli, E.I. and Ballabio, A. (1993). Kallman syndrome. From genetics to neurobiology. J. Am. Med. Assn 270, 2713-2716.
    • (1993) J. Am. Med. Assn , vol.270 , pp. 2713-2716
    • Rugarli, E.I.1    Ballabio, A.2
  • 20
    • 0028924667 scopus 로고
    • A cluster of sulfatase genes on Xp22.3: Mutations in chondroplasia punctata (CDPX) and implications for warfarin embryopathy
    • Franco, B. et al. (1995). A cluster of sulfatase genes on Xp22.3: mutations in chondroplasia punctata (CDPX) and implications for warfarin embryopathy. Cell 18, 15-25.
    • (1995) Cell , vol.18 , pp. 15-25
    • Franco, B.1
  • 21
    • 0028966947 scopus 로고
    • Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux
    • Sanyanusin, P. et al. (1995). Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nature Genet. 9, 358-364.
    • (1995) Nature Genet. , vol.9 , pp. 358-364
    • Sanyanusin, P.1
  • 22
    • 0030065606 scopus 로고    scopus 로고
    • Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly
    • Brunelli, S. et al. (1996). Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nature Genet. 12, 94-96.
    • (1996) Nature Genet. , vol.12 , pp. 94-96
    • Brunelli, S.1
  • 23
    • 0030070052 scopus 로고    scopus 로고
    • Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome
    • Dixon, J. et al. (1996). Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nature Genet. 12, 130-136.
    • (1996) Nature Genet. , vol.12 , pp. 130-136
    • Dixon, J.1
  • 24
    • 0029022770 scopus 로고
    • Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
    • Petrij, F. et al. (1995). Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 376, 348-351.
    • (1995) Nature , vol.376 , pp. 348-351
    • Petrij, F.1
  • 25
    • 13344261391 scopus 로고    scopus 로고
    • Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome
    • Pilia, G. et al. (1996). Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nature Genet. 12, 241-246.
    • (1996) Nature Genet. , vol.12 , pp. 241-246
    • Pilia, G.1
  • 26
    • 0028862472 scopus 로고
    • Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2-H19 domain
    • Reik, W., Brown, K.W., Schneid, H., Bouc, V.L., Bickmore, W. and Maher, E.R. (1995). Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2-H19 domain. Hum. Mol. Genet. 4, 2379-2385.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 2379-2385
    • Reik, W.1    Brown, K.W.2    Schneid, H.3    Bouc, V.L.4    Bickmore, W.5    Maher, E.R.6
  • 27
    • 0029128827 scopus 로고
    • Syndromal mental retardation due to mutations in a regulator of gene expression
    • Gibbons, R.J., Picketts, D.J. and Higgs, D.R. (1995). Syndromal mental retardation due to mutations in a regulator of gene expression. Hum. Mol. Genet. 4, 1705-1710.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1705-1710
    • Gibbons, R.J.1    Picketts, D.J.2    Higgs, D.R.3
  • 28
    • 0030115629 scopus 로고    scopus 로고
    • XNP mutation in a large family with Juberg-Marsidi syndrome
    • Villard, L. et al. (1996). XNP mutation in a large family with Juberg-Marsidi syndrome. Nature Genet. 12, 259-260.
    • (1996) Nature Genet. , vol.12 , pp. 259-260
    • Villard, L.1
  • 29
    • 0029871929 scopus 로고    scopus 로고
    • Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13
    • Muragaki, Y., Mundlos, S., Upton, J. and Olsen, B.R. (1996). Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 272, 548-551.
    • (1996) Science , vol.272 , pp. 548-551
    • Muragaki, Y.1    Mundlos, S.2    Upton, J.3    Olsen, B.R.4
  • 30
    • 0029127807 scopus 로고
    • Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker
    • Sarfarazi, M., Akarsu, A.N. and Sayti, B.S. (1995). Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker. Hum. Mol. Genet. 4, 1453-1458.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1453-1458
    • Sarfarazi, M.1    Akarsu, A.N.2    Sayti, B.S.3
  • 31
    • 0027358721 scopus 로고
    • Disruption of the Hoxd-13 gene induces localized heterochrony leading to mice with neotenic limbs
    • Dolle, P. et al. (1993). Disruption of the Hoxd-13 gene induces localized heterochrony leading to mice with neotenic limbs. Cell 75,431-441.
    • (1993) Cell , vol.75 , pp. 431-441
    • Dolle, P.1
  • 32
    • 0028088073 scopus 로고
    • The ins and cuts of fibroblast growth factors
    • Mason, I.J., (1994). The ins and cuts of fibroblast growth factors. Cell 78, 547-552.
    • (1994) Cell , vol.78 , pp. 547-552
    • Mason, I.J.1
  • 33
    • 0027344852 scopus 로고
    • Structural and functional diversity in the FGF receptor multi-gene family
    • Johnson, D.E. and Williams, L.T. (1993). Structural and functional diversity in the FGF receptor multi-gene family. Adv. Cancer Res. 60, 1-41.
    • (1993) Adv. Cancer Res. , vol.60 , pp. 1-41
    • Johnson, D.E.1    Williams, L.T.2
  • 34
    • 0027964261 scopus 로고
    • Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
    • Shiang, R. et al. (1994). Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78, 335-342.
    • (1994) Cell , vol.78 , pp. 335-342
    • Shiang, R.1
  • 35
    • 0028093135 scopus 로고
    • Mutations in the gene encoding fibroblast growth factor receptor 3 in achondroplasia
    • Rousseau, F. et al. (1994). Mutations in the gene encoding fibroblast growth factor receptor 3 in achondroplasia. Nature 371, 252-254.
    • (1994) Nature , vol.371 , pp. 252-254
    • Rousseau, F.1
  • 36
    • 0028872752 scopus 로고
    • Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
    • Tavormina, P.L. et al. (1995). Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nature Genet. 9, 321-328.
    • (1995) Nature Genet. , vol.9 , pp. 321-328
    • Tavormina, P.L.1
  • 37
    • 0029298121 scopus 로고
    • Stop codon FGFR3 mutations in thanatophoric dwarfism type 1
    • Rousseau, F. et al. (1995). Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. Nature Genet. 10, 11-12.
    • (1995) Nature Genet. , vol.10 , pp. 11-12
    • Rousseau, F.1
  • 38
    • 0029032394 scopus 로고
    • A recurrent mutation in the tyrosine kinase domain of libroblast growth factor receptor 3 causes hypochondroplasia
    • Bellus, G.A. et al. (1995). A recurrent mutation in the tyrosine kinase domain of libroblast growth factor receptor 3 causes hypochondroplasia (Letter). Nature Genet. 10, 357-359.
    • (1995) Nature Genet. , vol.10 , pp. 357-359
    • Bellus, G.A.1
  • 39
    • 0028793472 scopus 로고
    • Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans
    • Meyers, G.A., Orlow, S.J., Munro, I.R., Przylepa, K.A. and Jabs, E.W. (1995). Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nature Genet. 11, 462-463.
    • (1995) Nature Genet. , vol.11 , pp. 462-463
    • Meyers, G.A.1    Orlow, S.J.2    Munro, I.R.3    Przylepa, K.A.4    Jabs, E.W.5
  • 40
    • 0029418312 scopus 로고    scopus 로고
    • The molecular pathology of syndromic craniosynostosis
    • Reardon, W. and Winter, R.M. (1996). The molecular pathology of syndromic craniosynostosis. Mol. Med. Today 1, 432-437.
    • (1996) Mol. Med. Today , vol.1 , pp. 432-437
    • Reardon, W.1    Winter, R.M.2
  • 41
    • 0028798546 scopus 로고
    • Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
    • Wilkie, A.O.M. et al. (1995). Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genet. 9, 165-172.
    • (1995) Nature Genet. , vol.9 , pp. 165-172
    • Wilkie, A.O.M.1
  • 42
    • 0028046606 scopus 로고
    • A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
    • Muenke, M. et al. (1994). A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nature Genet. 8, 269-274.
    • (1994) Nature Genet. , vol.8 , pp. 269-274
    • Muenke, M.1
  • 43
    • 0029109137 scopus 로고
    • Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
    • Rutland P. et al. (1995). Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nature Genet. 9, 173-176.
    • (1995) Nature Genet. , vol.9 , pp. 173-176
    • Rutland, P.1
  • 44
    • 0029242747 scopus 로고
    • FGFR2 mutations in Pfeiffer syndrome
    • Lajeunie, E. et al. (1995). FGFR2 mutations in Pfeiffer syndrome. Nature Genet. 9, 108.
    • (1995) Nature Genet. , vol.9 , pp. 108
    • Lajeunie, E.1
  • 45
    • 0028930046 scopus 로고
    • Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome
    • Schell, U. et al. (1995). Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Hum. Mol. Genet. 4, 323-328.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 323-328
    • Schell, U.1
  • 46
    • 0029917507 scopus 로고    scopus 로고
    • Fibroblast growth factor receptors is a negative regulator of bone growth
    • Deng, C., Wynshaw-Boris, A., Zhou, F., Kuo, A. and Leder, P. (1996). Fibroblast growth factor receptors is a negative regulator of bone growth. Cell 84, 911-921.
    • (1996) Cell , vol.84 , pp. 911-921
    • Deng, C.1    Wynshaw-Boris, A.2    Zhou, F.3    Kuo, A.4    Leder, P.5
  • 47
    • 0029935895 scopus 로고    scopus 로고
    • Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanalophoric dysplasia
    • Naski, M.C., Wang, Q., Xu, J. and Ornitz, D.M. (1996). Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanalophoric dysplasia. Nature Genet. 13, 233-237.
    • (1996) Nature Genet. , vol.13 , pp. 233-237
    • Naski, M.C.1    Wang, Q.2    Xu, J.3    Ornitz, D.M.4
  • 48
    • 0029983638 scopus 로고    scopus 로고
    • Exclusive paternal origin of new mutations in Apert syndrome
    • Moloney, D.M. et al. (1996). Exclusive paternal origin of new mutations in Apert syndrome. Nature Genet. 13, 48-53.
    • (1996) Nature Genet. , vol.13 , pp. 48-53
    • Moloney, D.M.1
  • 49
    • 0028836022 scopus 로고
    • Towards a molecular understanding of skeletal development
    • Erlebacher, A., Filvaroff, E.H., Gitelman, S.E. and Derynck, R. (1995). Towards a molecular understanding of skeletal development. Cell 80, 371-378.
    • (1995) Cell , vol.80 , pp. 371-378
    • Erlebacher, A.1    Filvaroff, E.H.2    Gitelman, S.E.3    Derynck, R.4
  • 50
    • 0028812491 scopus 로고
    • Key role for a minor collagen
    • Francomano, C.A. (1995). Key role for a minor collagen. Nature Genet. 9, 6-8.
    • (1995) Nature Genet. , vol.9 , pp. 6-8
    • Francomano, C.A.1
  • 51
    • 0030031950 scopus 로고    scopus 로고
    • What's in a face?
    • Winter, R.M. (1996). What's in a face? Nafure Genet. 12, 124-129.
    • (1996) Nafure Genet. , vol.12 , pp. 124-129
    • Winter, R.M.1
  • 52
    • 0028798545 scopus 로고
    • The detection of subtelomeric chromosomal rearrangements in ideopathic mental retardation
    • Flint, J. et al. (1995). The detection of subtelomeric chromosomal rearrangements in ideopathic mental retardation. Nature Genet. 9, 132-139.
    • (1995) Nature Genet. , vol.9 , pp. 132-139
    • Flint, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.