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Volumn 135 C, Issue 1, 2005, Pages 69-76

Non-multifactorial neural tube defects

Author keywords

Anencephaly; Candidate genes; Chromosome deletion; Chromosome duplication; Spina bifida

Indexed keywords

ANENCEPHALUS; ANEUPLOIDY; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CONFERENCE PAPER; ENCEPHALOCELE; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC COUNSELING; HUMAN; MENINGOCELE; MENINGOMYELOCELE; NEURAL TUBE DEFECT; PRIORITY JOURNAL; SPINA BIFIDA;

EID: 17844368588     PISSN: 15524868     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.c.30055     Document Type: Conference Paper
Times cited : (50)

References (93)
  • 3
    • 0016767004 scopus 로고
    • Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21)
    • Allderdice PW, Browne N, Murphy DP. 1975. Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21). Am J Hum Genet 27:699-718.
    • (1975) Am J Hum Genet , vol.27 , pp. 699-718
    • Allderdice, P.W.1    Browne, N.2    Murphy, D.P.3
  • 4
    • 0027960488 scopus 로고
    • A novel zinc finger protein, zic, is involved in neurogenesis, especially in the cell lineage of cereellar granule cells
    • Arriga J, Yokota N, Hashimoto M, Furuichi T, Fukuda M, Mikoshiba K. 1994. A novel zinc finger protein, zic, is involved in neurogenesis, especially in the cell lineage of cereellar granule cells. J Neurochem 63:1880-1890.
    • (1994) J Neurochem , vol.63 , pp. 1880-1890
    • Arriga, J.1    Yokota, N.2    Hashimoto, M.3    Furuichi, T.4    Fukuda, M.5    Mikoshiba, K.6
  • 6
    • 0021333265 scopus 로고
    • Neural tube defects as an X-linked condition
    • Baraitser M, Burn J. 1984. Neural tube defects as an X-linked condition. Am J Med Genet 17:383-385.
    • (1984) Am J Med Genet , vol.17 , pp. 383-385
    • Baraitser, M.1    Burn, J.2
  • 7
    • 0030863553 scopus 로고    scopus 로고
    • Anencephaly with holoprosencephalic facies due to ring chromosome 18
    • Bird LM, Pretorius DH, Mendoza AE, Jones MC. 1997. Anencephaly with holoprosencephalic facies due to ring chromosome 18. Clin Dysmorph 6:351-358.
    • (1997) Clin Dysmorph , vol.6 , pp. 351-358
    • Bird, L.M.1    Pretorius, D.H.2    Mendoza, A.E.3    Jones, M.C.4
  • 9
    • 0344588770 scopus 로고    scopus 로고
    • Identification of the vertebrate Iroquois homeobox gene family with overlapping expression during early development of the nervous system
    • Bosse A, Zulch A, Becker MB, Torres M, Gomez-Skarmeta JL, Modolell J, Gruss P. 1997. Identification of the vertebrate Iroquois homeobox gene family with overlapping expression during early development of the nervous system. Mech Dev 69:169-181.
    • (1997) Mech Dev , vol.69 , pp. 169-181
    • Bosse, A.1    Zulch, A.2    Becker, M.B.3    Torres, M.4    Gomez-Skarmeta, J.L.5    Modolell, J.6    Gruss, P.7
  • 11
    • 0022522868 scopus 로고
    • Neural tube defects in spontaneous abortions
    • Byrne J, Warbuton D. 1986. Neural tube defects in spontaneous abortions. Am J Med Genet 25:327-333.
    • (1986) Am J Med Genet , vol.25 , pp. 327-333
    • Byrne, J.1    Warbuton, D.2
  • 13
    • 0029956917 scopus 로고    scopus 로고
    • Prenatal diagnosis of partial monosomy 13q associated with occipital encephalocoele in a fetus
    • Chen CP, Liu FF, Jan SW, Wang KG, Lan CC. 1996. Prenatal diagnosis of partial monosomy 13q associated with occipital encephalocoele in a fetus. Prenat Diagn 16:664-666.
    • (1996) Prenat Diagn , vol.16 , pp. 664-666
    • Chen, C.P.1    Liu, F.F.2    Jan, S.W.3    Wang, K.G.4    Lan, C.C.5
  • 14
    • 0035103327 scopus 로고    scopus 로고
    • Prenatal diagnosis of mosaic ring chromosome 13 with anencephaly
    • Erratum in: Prenat Diagn 21:605, 2001
    • Chen CP, Chern SR, Lee CC, Chen WL, Wang W. 2001. Prenatal diagnosis of mosaic ring chromosome 13 with anencephaly. Prenat Diagn 21:102-105. Erratum in: Prenat Diagn 21:605, 2001.
    • (2001) Prenat Diagn , vol.21 , pp. 102-105
    • Chen, C.P.1    Chern, S.R.2    Lee, C.C.3    Chen, W.L.4    Wang, W.5
  • 15
    • 0029906543 scopus 로고    scopus 로고
    • Small interstitial deletion of the long arm of chromosome 2 (2q24.3): Further delineation of 2q medial monosomy syndrome
    • Chinen Y, Tohma T, Izumikawa Y, Iha T, Goya Y, Naritomi K. 1996. Small interstitial deletion of the long arm of chromosome 2 (2q24.3): Further delineation of 2q medial monosomy syndrome. Jpn J Hum Genet 41:323-328.
    • (1996) Jpn J Hum Genet , vol.41 , pp. 323-328
    • Chinen, Y.1    Tohma, T.2    Izumikawa, Y.3    Iha, T.4    Goya, Y.5    Naritomi, K.6
  • 18
    • 0017237977 scopus 로고
    • Congenital malformations of the central nervous system in spontaneous abortions
    • Creasy MR, Alberman ED. 1976. Congenital malformations of the central nervous system in spontaneous abortions. J Med Genet 13:9-16.
    • (1976) J Med Genet , vol.13 , pp. 9-16
    • Creasy, M.R.1    Alberman, E.D.2
  • 20
    • 0033012881 scopus 로고    scopus 로고
    • Trisomy 18 with total cranio-rachischisis and thoraco-abdominoschisis
    • Donaldson SJF, Wright CA, deRavel TJL. 1999. Trisomy 18 with total cranio-rachischisis and thoraco-abdominoschisis. Prenat Diagn 19:580-582.
    • (1999) Prenat Diagn , vol.19 , pp. 580-582
    • Donaldson, S.J.F.1    Wright, C.A.2    DeRavel, T.J.L.3
  • 21
    • 0038006277 scopus 로고    scopus 로고
    • Recurrent neural tube defects associated with partial trisomy 2p22-pter: Report of two siblings and review of the literature
    • Doray B, Favre R, Gasser B, Girard-Lemaire F, Schluth C, Flori E. 2003. Recurrent neural tube defects associated with partial trisomy 2p22-pter: Report of two siblings and review of the literature. Genet Couns 14:165-172.
    • (2003) Genet Couns , vol.14 , pp. 165-172
    • Doray, B.1    Favre, R.2    Gasser, B.3    Girard-Lemaire, F.4    Schluth, C.5    Flori, E.6
  • 22
    • 0031009601 scopus 로고    scopus 로고
    • Chromosome 18q22.2-qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects
    • Dowton SB, Hing AV, Sheen-Kaniecki V, Watson MS. 1997. Chromosome 18q22.2-qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects. J Med Genet 34:414-417.
    • (1997) J Med Genet , vol.34 , pp. 414-417
    • Dowton, S.B.1    Hing, A.V.2    Sheen-Kaniecki, V.3    Watson, M.S.4
  • 23
    • 0036850976 scopus 로고    scopus 로고
    • De novo GL13 mutation in acrocallosal syndrome: Broadening the phenotypic spectrum of GL13 defects and overlap with murine models
    • Elson E, Perveen R, Donnai D, Wall S, Glack GCM. 2002. De novo GL13 mutation in acrocallosal syndrome: Broadening the phenotypic spectrum of GL13 defects and overlap with murine models. J Med Genet 39:804-806.
    • (2002) J Med Genet , vol.39 , pp. 804-806
    • Elson, E.1    Perveen, R.2    Donnai, D.3    Wall, S.4    Glack, G.C.M.5
  • 24
    • 0018382839 scopus 로고
    • Familial partial trisomy of the long arm of chromosome 3 (3q)
    • Fear C, Briggs A. 1979. Familial partial trisomy of the long arm of chromosome 3 (3q). Arch Dis Child 54:135-138.
    • (1979) Arch Dis Child , vol.54 , pp. 135-138
    • Fear, C.1    Briggs, A.2
  • 25
    • 17144434406 scopus 로고    scopus 로고
    • Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11
    • Funke B, Puech A, Saint-Jore B, Pandita R, Skoultchi A, Morrow B. 1998. Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11. Genomics 53:146-154.
    • (1998) Genomics , vol.53 , pp. 146-154
    • Funke, B.1    Puech, A.2    Saint-Jore, B.3    Pandita, R.4    Skoultchi, A.5    Morrow, B.6
  • 26
    • 0032408030 scopus 로고    scopus 로고
    • Genetics of neural tube defects. Mental retardation and developmental disabilities
    • Hall JG, Solehdin F. 1998. Genetics of neural tube defects. Mental retardation and developmental disabilities. Res Rev 4:269-281.
    • (1998) Res Rev , vol.4 , pp. 269-281
    • Hall, J.G.1    Solehdin, F.2
  • 27
    • 0029073378 scopus 로고
    • Prenatal ultrasound detection of isolated neural tube defects: Is cytogenetic evaluation warranted?
    • Harmon JP, Hielt AK, Palmer CG, Golichowski AM. 1995. Prenatal ultrasound detection of isolated neural tube defects: Is cytogenetic evaluation warranted? Obstet Gynecol 86:595-599.
    • (1995) Obstet Gynecol , vol.86 , pp. 595-599
    • Harmon, J.P.1    Hielt, A.K.2    Palmer, C.G.3    Golichowski, A.M.4
  • 28
    • 0028978478 scopus 로고
    • Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice
    • Helwig U, Imai K, Schmahl W, Thomas BE, Varnum DS, Nadeau JH, Balling R. 1995. Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice. Nat Genet 11:60-63.
    • (1995) Nat Genet , vol.11 , pp. 60-63
    • Helwig, U.1    Imai, K.2    Schmahl, W.3    Thomas, B.E.4    Varnum, D.S.5    Nadeau, J.H.6    Balling, R.7
  • 29
    • 1842556765 scopus 로고    scopus 로고
    • Comparative physical maps of the human and mouse Meckel syndrome critical regions
    • Hentges KE, Kyttala M, Justice MJ, Peltonen L. 2004. Comparative physical maps of the human and mouse Meckel syndrome critical regions. Mamm Genome 15:252-264.
    • (2004) Mamm Genome , vol.15 , pp. 252-264
    • Hentges, K.E.1    Kyttala, M.2    Justice, M.J.3    Peltonen, L.4
  • 31
    • 0034667325 scopus 로고    scopus 로고
    • Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes
    • Hol FA, Schepens MT, van Beersum SE, Redolfi E, Affer M, Vezzoni P, Hamel BC, Karnes PS, Mariman EC, Zucchi I. 2000. Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes. Genomics 69:174-181.
    • (2000) Genomics , vol.69 , pp. 174-181
    • Hol, F.A.1    Schepens, M.T.2    Van Beersum, S.E.3    Redolfi, E.4    Affer, M.5    Vezzoni, P.6    Hamel, B.C.7    Karnes, P.S.8    Mariman, E.C.9    Zucchi, I.10
  • 33
    • 2342646164 scopus 로고    scopus 로고
    • Mouse Zic5 deficiency results in neural tube defects and hypoplasia of cephalic neural crest derivatives
    • Inouye T, Hatayama M, Tohmonda T, Itohara S, Aruga J, Mikoshiba K. 2004. Mouse Zic5 deficiency results in neural tube defects and hypoplasia of cephalic neural crest derivatives. Dev Biol 270:146-162.
    • (2004) Dev Biol , vol.270 , pp. 146-162
    • Inouye, T.1    Hatayama, M.2    Tohmonda, T.3    Itohara, S.4    Aruga, J.5    Mikoshiba, K.6
  • 34
    • 0031592838 scopus 로고    scopus 로고
    • Prediction of the coding sequences of unidentified human genes. VIII. 78 New cDNA clones from brain which code for large proteins in vitro
    • Ishikawa K, Nagase T, Nakajima D, Seki N, Ohira M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O. 1997. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. DNA Res 4:307-313.
    • (1997) DNA Res , vol.4 , pp. 307-313
    • Ishikawa, K.1    Nagase, T.2    Nakajima, D.3    Seki, N.4    Ohira, M.5    Miyajima, N.6    Tanaka, A.7    Kotani, H.8    Nomura, N.9    Ohara, O.10
  • 35
    • 0032570050 scopus 로고    scopus 로고
    • Cloning and expressions of three mammalian homologues of Drosophila slit suggest possible roles for Slit in the formation and maintenance of the nervous system
    • Itoh A, Miyabayashi T, Ohno M, Sakano S. 1998. Cloning and expressions of three mammalian homologues of Drosophila slit suggest possible roles for Slit in the formation and maintenance of the nervous system. Brain Res Mol Brain Res 62:175-186.
    • (1998) Brain Res Mol Brain Res , vol.62 , pp. 175-186
    • Itoh, A.1    Miyabayashi, T.2    Ohno, M.3    Sakano, S.4
  • 38
    • 0030744231 scopus 로고    scopus 로고
    • A family of mammalian Fringe genes, implicated in boundary determination and the Notch pathway
    • Johnston SH, Rauskolb C, Wilson P, Prabhakaren B, Irvine KD, Vogt TF. 1997. A family of mammalian Fringe genes, implicated in boundary determination and the Notch pathway. Development 124:2245-2254.
    • (1997) Development , vol.124 , pp. 2245-2254
    • Johnston, S.H.1    Rauskolb, C.2    Wilson, P.3    Prabhakaren, B.4    Irvine, K.D.5    Vogt, T.F.6
  • 39
    • 0024472578 scopus 로고
    • Deletion 3q27-3qter in an infant with mild dysmorphism, parietal meningocele, and neonatal miliaria rubra-like lesions
    • Jokiaho I, Salo A, Niemi KM, Blomstedt GC, Pihkala J. 1989. Deletion 3q27-3qter in an infant with mild dysmorphism, parietal meningocele, and neonatal miliaria rubra-like lesions. Hum Genet 83:302-304.
    • (1989) Hum Genet , vol.83 , pp. 302-304
    • Jokiaho, I.1    Salo, A.2    Niemi, K.M.3    Blomstedt, G.C.4    Pihkala, J.5
  • 40
    • 0030956322 scopus 로고    scopus 로고
    • Barx2, a new homeobox of the Bar class, is expressed in neural and craniofacial structures during development
    • Jones FF, Kioussi C, Copertino DW, Kallunki P, Holst BD, Edelman GM. 1997. Barx2, a new homeobox of the Bar class, is expressed in neural and craniofacial structures during development. Proc Nat Acad Sci 94:2632-2637.
    • (1997) Proc Nat Acad Sci , vol.94 , pp. 2632-2637
    • Jones, F.F.1    Kioussi, C.2    Copertino, D.W.3    Kallunki, P.4    Holst, B.D.5    Edelman, G.M.6
  • 41
    • 0030599893 scopus 로고    scopus 로고
    • Recurrent anencephaly as a primary manifestation of the acrocallosal syndrome
    • Kedar I, Amiel A, Fejgin M, Drugan A. 1996. Recurrent anencephaly as a primary manifestation of the acrocallosal syndrome. Am J Med Genet 62:415-416.
    • (1996) Am J Med Genet , vol.62 , pp. 415-416
    • Kedar, I.1    Amiel, A.2    Fejgin, M.3    Drugan, A.4
  • 43
    • 0036678928 scopus 로고    scopus 로고
    • The homeobox containing gene Lbx 1 is required for correct dorsal-ventral-patterning of the neural tube
    • Kruger M, Schafer K, Braun T. 2002. The homeobox containing gene Lbx 1 is required for correct dorsal-ventral-patterning of the neural tube. J Neurochem 82:774-782.
    • (2002) J Neurochem , vol.82 , pp. 774-782
    • Kruger, M.1    Schafer, K.2    Braun, T.3
  • 45
    • 0032213969 scopus 로고    scopus 로고
    • Neuronal patterning by BMPs: A requirement for GDF7 in the generation of a discrete class of commissural interneurons in the mouse spinal cord
    • Lee KJ, Mendelsohn M, Jessell TM. 1998. Neuronal patterning by BMPs: A requirement for GDF7 in the generation of a discrete class of commissural interneurons in the mouse spinal cord. Genes Dev 12:3394-3407.
    • (1998) Genes Dev , vol.12 , pp. 3394-3407
    • Lee, K.J.1    Mendelsohn, M.2    Jessell, T.M.3
  • 46
    • 0034696503 scopus 로고    scopus 로고
    • Expression and regulation of a gene encoding neural recognition molecule NB-3 of the contactin/F3 subgroup in mouse grain
    • Lee S, Takeda Y, Kawano H, Hosoya H, Nomoto M, Fujimoto D, Takahashi N, Watanabe K. 2000. Expression and regulation of a gene encoding neural recognition molecule NB-3 of the contactin/F3 subgroup in mouse grain. Gene 245:253-266.
    • (2000) Gene , vol.245 , pp. 253-266
    • Lee, S.1    Takeda, Y.2    Kawano, H.3    Hosoya, H.4    Nomoto, M.5    Fujimoto, D.6    Takahashi, N.7    Watanabe, K.8
  • 50
    • 0034105691 scopus 로고    scopus 로고
    • Neural tube defects and the 13q deletion syndrome: Evidence for a critical region in 13q33-34
    • Luo J, Balkin N, Stewart JF, Charrow J, Nye JS. 2000. Neural tube defects and the 13q deletion syndrome: Evidence for a critical region in 13q33-34. Am J Med Genet 91:227-230.
    • (2000) Am J Med Genet , vol.91 , pp. 227-230
    • Luo, J.1    Balkin, N.2    Stewart, J.F.3    Charrow, J.4    Nye, J.S.5
  • 51
    • 0028273979 scopus 로고
    • The acrocallosal syndrome: Expansion of the phenotypic spectrum
    • Lurie IW, Naumchik IV, Wulfsberg EA. 1994. The acrocallosal syndrome: Expansion of the phenotypic spectrum. Clin Dysmorphol 3:31-34.
    • (1994) Clin Dysmorphol , vol.3 , pp. 31-34
    • Lurie, I.W.1    Naumchik, I.V.2    Wulfsberg, E.A.3
  • 54
    • 0024344538 scopus 로고
    • Survey of neural tube defects in spontaneously aborted embryos
    • McFadden DE, Kalousek DK. 1989. Survey of neural tube defects in spontaneously aborted embryos. Am J Med Genet 32:356-358.
    • (1989) Am J Med Genet , vol.32 , pp. 356-358
    • McFadden, D.E.1    Kalousek, D.K.2
  • 55
    • 0027492499 scopus 로고
    • Interstitial deletion of chromosome 2 region in a malformed infant
    • Melnyk AR, Muraskas J. 1993. Interstitial deletion of chromosome 2 region in a malformed infant. Am J Med Genet 45:49-51.
    • (1993) Am J Med Genet , vol.45 , pp. 49-51
    • Melnyk, A.R.1    Muraskas, J.2
  • 56
    • 0019312173 scopus 로고
    • A case of "cri-du-chat" syndrome with meningomyelocele
    • Mita R, Moriyama T, Sekiya T, Takebe Y. 1980. A case of "cri-du-chat" syndrome with meningomyelocele. No Shinkei Geka 8:761-765.
    • (1980) No Shinkei Geka , vol.8 , pp. 761-765
    • Mita, R.1    Moriyama, T.2    Sekiya, T.3    Takebe, Y.4
  • 58
    • 0027238926 scopus 로고
    • Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36->7qter
    • Morichon-Delvallez N, Delezoide AL, Vekemans M. 1993. Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36->7qter. J Med Genet 30:521-524.
    • (1993) J Med Genet , vol.30 , pp. 521-524
    • Morichon-Delvallez, N.1    Delezoide, A.L.2    Vekemans, M.3
  • 59
    • 0028298578 scopus 로고
    • Linkage analysis of 62 X-chromosomal loci excludes the X chromosome in an Icelandic family showing apparent X-linked recessive inheritance of neural tube defects
    • Newton R, Stanier P, Loughna S, Henderson DJ, Forbes SA, Farrall M, Jensson O, Moore GE. 1994. Linkage analysis of 62 X-chromosomal loci excludes the X chromosome in an Icelandic family showing apparent X-linked recessive inheritance of neural tube defects. Clin Genet 45:241-249.
    • (1994) Clin Genet , vol.45 , pp. 241-249
    • Newton, R.1    Stanier, P.2    Loughna, S.3    Henderson, D.J.4    Forbes, S.A.5    Farrall, M.6    Jensson, O.7    Moore, G.E.8
  • 60
    • 0029956830 scopus 로고    scopus 로고
    • Neural tube defects and deletions of 22q11
    • Nickel RE, Magenis RE. 1996. Neural tube defects and deletions of 22q11. Am J Med Genet 66:25-27.
    • (1996) Am J Med Genet , vol.66 , pp. 25-27
    • Nickel, R.E.1    Magenis, R.E.2
  • 61
    • 0032477782 scopus 로고    scopus 로고
    • Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: Possible digenic inheritance of a neural tube defect
    • Nye JS, Balkin N, Lucas H, Knepper PA, McLone DG, Charrow J. 1998. Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: Possible digenic inheritance of a neural tube defect. Am J Med Genet 75:401-408.
    • (1998) Am J Med Genet , vol.75 , pp. 401-408
    • Nye, J.S.1    Balkin, N.2    Lucas, H.3    Knepper, P.A.4    McLone, D.G.5    Charrow, J.6
  • 62
    • 0028980029 scopus 로고
    • The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24
    • Paavola P, Salonen R, Weissenbach J, Peltonen L. 1995. The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Nat Genet 11:213-215.
    • (1995) Nat Genet , vol.11 , pp. 213-215
    • Paavola, P.1    Salonen, R.2    Weissenbach, J.3    Peltonen, L.4
  • 63
    • 0030731439 scopus 로고    scopus 로고
    • Expression and interaction of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis
    • Pattyn A, Morin X, Cremer H, Goridis C, Brunet JF. 1997. Expression and interaction of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis. Development 124:4065-4075.
    • (1997) Development , vol.124 , pp. 4065-4075
    • Pattyn, A.1    Morin, X.2    Cremer, H.3    Goridis, C.4    Brunet, J.F.5
  • 64
    • 0023117211 scopus 로고
    • Multiple functions of segment polarity genes and Drosophila
    • Perrimon N, Mahowald AP. 1987. Multiple functions of segment polarity genes and Drosophila. Dev Biol 119:587-600.
    • (1987) Dev Biol , vol.119 , pp. 587-600
    • Perrimon, N.1    Mahowald, A.P.2
  • 65
    • 0026534950 scopus 로고
    • Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3
    • Pfeiffer RA, Legat G, Trautmann U. 1992. Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3. Ann Genet 35:41-46.
    • (1992) Ann Genet , vol.35 , pp. 41-46
    • Pfeiffer, R.A.1    Legat, G.2    Trautmann, U.3
  • 68
    • 0026481219 scopus 로고
    • Genomic organization of the human folate receptor genes on chromosome 11q13
    • Ragoussis J, Senger G, Trowsdale J, Campbell IG. 1992. Genomic organization of the human folate receptor genes on chromosome 11q13. Genomics 14:423-430.
    • (1992) Genomics , vol.14 , pp. 423-430
    • Ragoussis, J.1    Senger, G.2    Trowsdale, J.3    Campbell, I.G.4
  • 69
    • 0030734258 scopus 로고    scopus 로고
    • Disorganisation in mice and humans and its relation to sporadic birth defects
    • Robin NH, Abbadi N, McCandless SE, Nadeau JH. 1997. Disorganisation in mice and humans and its relation to sporadic birth defects. Am J Med Genet 73:425-436.
    • (1997) Am J Med Genet , vol.73 , pp. 425-436
    • Robin, N.H.1    Abbadi, N.2    McCandless, S.E.3    Nadeau, J.H.4
  • 73
    • 0023427744 scopus 로고
    • Anencephalic phenotype in the 13q-syndrome
    • Rudelli RD. 1987. Anencephalic phenotype in the 13q-syndrome, Arch Pathol Lab Med 111:896-897.
    • (1987) Arch Pathol Lab Med , vol.111 , pp. 896-897
    • Rudelli, R.D.1
  • 75
    • 0025761449 scopus 로고
    • Two human genes encoding zinc finger proteins, ZNF12 (KOX3) and ZNF26 (KOX20) map to chromosome 7p22-p21 and 12q24.33, respectively
    • Seite P, Huebner K, Rousseau-Meick MF, Berger R, Thiesen HS. 1991. Two human genes encoding zinc finger proteins, ZNF12 (KOX3) and ZNF26 (KOX20) map to chromosome 7p22-p21 and 12q24.33, respectively. Hum Genet 86:585-590.
    • (1991) Hum Genet , vol.86 , pp. 585-590
    • Seite, P.1    Huebner, K.2    Rousseau-Meick, M.F.3    Berger, R.4    Thiesen, H.S.5
  • 76
    • 0029027715 scopus 로고
    • Neural tube defects, chromosome abnormalities and multiple closure sites for the human neural tube
    • Seller MJ. 1995. Neural tube defects, chromosome abnormalities and multiple closure sites for the human neural tube. Clin Dysmorphol 4:202-207.
    • (1995) Clin Dysmorphol , vol.4 , pp. 202-207
    • Seller, M.J.1
  • 79
    • 2442693153 scopus 로고    scopus 로고
    • A trisomy 2 fetus with severe neural tube defects and other abnormalities
    • Seller MJ, Mazzaschi R, Ogilvie CM, Mohammed S. 2004. A trisomy 2 fetus with severe neural tube defects and other abnormalities. Clin Dysmorphol 13:25-27.
    • (2004) Clin Dysmorphol , vol.13 , pp. 25-27
    • Seller, M.J.1    Mazzaschi, R.2    Ogilvie, C.M.3    Mohammed, S.4
  • 80
    • 0031040185 scopus 로고    scopus 로고
    • Indentification of human cadherin-14, a novel neurally specific type II cadherin, by protein interaction cloning
    • Shibata T, Shimoyama Y, Gotah M, Hirohashi S. 1997. Indentification of human cadherin-14, a novel neurally specific type II cadherin, by protein interaction cloning. J Biol Chem 272:5236-5240.
    • (1997) J Biol Chem , vol.272 , pp. 5236-5240
    • Shibata, T.1    Shimoyama, Y.2    Gotah, M.3    Hirohashi, S.4
  • 83
    • 0019472306 scopus 로고
    • Partial trisomy 6q, due to balanced maternal translocadon (6;22) (q21; p13) or (q21; pter)
    • Stamberg J, Shapiro J, Valle D, Kuhajda FP, Thomas G, Wissow L. 1981. Partial trisomy 6q, due to balanced maternal translocadon (6;22) (q21; p13) or (q21; pter). Clin Genet 19:122-125.
    • (1981) Clin Genet , vol.19 , pp. 122-125
    • Stamberg, J.1    Shapiro, J.2    Valle, D.3    Kuhajda, F.P.4    Thomas, G.5    Wissow, L.6
  • 84
    • 0018885091 scopus 로고
    • Long arm deletion of chromosome 13 with exclusion of esterase D from 13q32 leads to 13qter
    • Telfer MA, Clark CE, Casey PA, Cowell HR, Stroud HH. 1980. Long arm deletion of chromosome 13 with exclusion of esterase D from 13q32 leads to 13qter. Clin Genet 17:428-432.
    • (1980) Clin Genet , vol.17 , pp. 428-432
    • Telfer, M.A.1    Clark, C.E.2    Casey, P.A.3    Cowell, H.R.4    Stroud, H.H.5
  • 85
    • 0021504552 scopus 로고
    • Report of a third kindred with X-linked anencephaly/spina bifida
    • Toriello HV. 1984. Report of a third kindred with X-linked anencephaly/spina bifida. Am J Med Genet 19:411-412.
    • (1984) Am J Med Genet , vol.19 , pp. 411-412
    • Toriello, H.V.1
  • 86
    • 0031682085 scopus 로고    scopus 로고
    • In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules
    • Wei MH, Karavanova I, Ivanov SV, Pupescu NC, Keck CL, Pack S, Eisen JA, Lerman MI. 1998. In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules. Hum Genet 103:355-364.
    • (1998) Hum Genet , vol.103 , pp. 355-364
    • Wei, M.H.1    Karavanova, I.2    Ivanov, S.V.3    Pupescu, N.C.4    Keck, C.L.5    Pack, S.6    Eisen, J.A.7    Lerman, M.I.8
  • 87
    • 0034608434 scopus 로고    scopus 로고
    • Regarding trisomy 2p syndrome
    • Wellesley D, Boyle T. 2000. Regarding trisomy 2p syndrome. Am J Med Genet 92:295.
    • (2000) Am J Med Genet , vol.92 , pp. 295
    • Wellesley, D.1    Boyle, T.2
  • 88
    • 0030978737 scopus 로고    scopus 로고
    • A report of recurrent anencephaly with trisomy 2p23-2pter: Additional evidence for the involvement of 2p24 in neural tube development and evaluation of the role of cytogenetic analysis
    • Winsor SH, McGrath MJ, Khalifa M, Duncan AM. 1997a. A report of recurrent anencephaly with trisomy 2p23-2pter: Additional evidence for the involvement of 2p24 in neural tube development and evaluation of the role of cytogenetic analysis. Prenat Diagn 17:665-669.
    • (1997) Prenat Diagn , vol.17 , pp. 665-669
    • Winsor, S.H.1    McGrath, M.J.2    Khalifa, M.3    Duncan, A.M.4
  • 89
    • 0030978737 scopus 로고    scopus 로고
    • A report of recurrent anericephaly with trisomy 2p23-2pter: Additional evidence for the involvement of 2p24 in neural tube development and evaluation of the role of cytogenetic analysis
    • Winsor SH, McGrath MJ, Khlakifa M, Duncan AM. 1997b. A report of recurrent anericephaly with trisomy 2p23-2pter: Additional evidence for the involvement of 2p24 in neural tube development and evaluation of the role of cytogenetic analysis. Prenat Diagn 17:665-669.
    • (1997) Prenat Diagn , vol.17 , pp. 665-669
    • Winsor, S.H.1    McGrath, M.J.2    Khlakifa, M.3    Duncan, A.M.4
  • 90
    • 0016156045 scopus 로고
    • Craniorachischisis in a partially trisomic 11 fetus in a family with reproductive failure and a reciprocal translocation, t(6p plus;11q minus)
    • Wright YM, Clark WE, Breg WR. 1974. Craniorachischisis in a partially trisomic 11 fetus in a family with reproductive failure and a reciprocal translocation, t(6p plus;11q minus). J Med Genet 11:69-75.
    • (1974) J Med Genet , vol.11 , pp. 69-75
    • Wright, Y.M.1    Clark, W.E.2    Breg, W.R.3
  • 91
    • 0037327216 scopus 로고    scopus 로고
    • Prenatal diagnosis of occipital encephalocele, mega-cisterna magna, mesomelic shortening and clubfeet associated with pure tetrasomy 20p
    • Wu YC, Fang JS, Lee KF, Estipon J, Yang ML, Yuan CC. 2003. Prenatal diagnosis of occipital encephalocele, mega-cisterna magna, mesomelic shortening and clubfeet associated with pure tetrasomy 20p. Prenat Diagn 23:124-127.
    • (2003) Prenat Diagn , vol.23 , pp. 124-127
    • Wu, Y.C.1    Fang, J.S.2    Lee, K.F.3    Estipon, J.4    Yang, M.L.5    Yuan, C.C.6
  • 92
    • 18544386815 scopus 로고    scopus 로고
    • A novel splice variant of the cell adhesion molecule contactin 4 (CNTN4) is mainly expressed in human brain
    • Zeng L, Zhang C, Xu J, Ye X, Wu Q, Dai J, Ji C, Gu S, Xie Y, Mao Y. 2002. A novel splice variant of the cell adhesion molecule contactin 4 (CNTN4) is mainly expressed in human brain. J Hum Genet 47:497-499.
    • (2002) J Hum Genet , vol.47 , pp. 497-499
    • Zeng, L.1    Zhang, C.2    Xu, J.3    Ye, X.4    Wu, Q.5    Dai, J.6    Ji, C.7    Gu, S.8    Xie, Y.9    Mao, Y.10


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