-
1
-
-
0037572356
-
Neural tube defects and associated factors in liveborn and stillborn infants
-
Rio
-
Aguiar MJB, Campos AS, Aguiar RALP, Lana AMA, Magalhães RL, Babeto LT. 2003. Neural tube defects and associated factors in liveborn and stillborn infants. J Pediatr (Rio J) 79:129-134.
-
(2003)
J Pediatr
, vol.79
, pp. 129-134
-
-
Aguiar, M.J.B.1
Campos, A.S.2
Aguiar, R.A.L.P.3
Lana, A.M.A.4
Magalhães, R.L.5
Babeto, L.T.6
-
2
-
-
0022496464
-
Interstitial deletion of the long arm of chromosome 1 [del(1)(q32q42)]
-
Al-Awadi SA, Farag TI, Usha R, el-Khalifa MY, Sundareshan TS, Al-Othman SA. 1986. Interstitial deletion of the long arm of chromosome 1 [del(1)(q32q42)]. Am J Med Genet 23:931-933.
-
(1986)
Am J Med Genet
, vol.23
, pp. 931-933
-
-
Al-Awadi, S.A.1
Farag, T.I.2
Usha, R.3
El-Khalifa, M.Y.4
Sundareshan, T.S.5
Al-Othman, S.A.6
-
3
-
-
0016767004
-
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
-
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
-
5
-
-
0021175899
-
Brief clinical report: Neural tube defects in dup 11q
-
Bader PL, Haney SM, Munsick RA, Schubert SR, Hodes ME. 1984. Brief clinical report: Neural tube defects in dup 11q. Am J Med Genet 19:5-8.
-
(1984)
Am J Med Genet
, vol.19
, pp. 5-8
-
-
Bader, P.L.1
Haney, S.M.2
Munsick, R.A.3
Schubert, S.R.4
Hodes, M.E.5
-
6
-
-
0021333265
-
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
-
8
-
-
0025355150
-
Terminal deletions of the long arm of chromosome 7: Five new cases
-
Bogart MH, Cunniff C, Bradshaw C, Jones KL, Jones OW. 1990. Terminal deletions of the long arm of chromosome 7: Five new cases. Am J Med Genet 36:53-55.
-
(1990)
Am J Med Genet
, vol.36
, pp. 53-55
-
-
Bogart, M.H.1
Cunniff, C.2
Bradshaw, C.3
Jones, K.L.4
Jones, O.W.5
-
9
-
-
0344588770
-
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
-
10
-
-
0026806186
-
The acrocallosal syndrome and Greig syndrome are not allelic disorders
-
Brueton LA, Chotai KA, van Herwerden L, Schinzel A, Winter RM. 1992. The acrocallosal syndrome and Greig syndrome are not allelic disorders. J Med Genet 29:635-637.
-
(1992)
J Med Genet
, vol.29
, pp. 635-637
-
-
Brueton, L.A.1
Chotai, K.A.2
Van Herwerden, L.3
Schinzel, A.4
Winter, R.M.5
-
11
-
-
0022522868
-
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
-
12
-
-
2442702949
-
Cdxz is essential for axial elongation in mouse development
-
Chawengsaksophak K, de Graaff W, Rossart J, DesChamps J, Beck F. 2004. Cdxz is essential for axial elongation in mouse development. Proc Nat Acad Sci USA 101:7641-7645.
-
(2004)
Proc Nat Acad Sci USA
, vol.101
, pp. 7641-7645
-
-
Chawengsaksophak, K.1
De Graaff, W.2
Rossart, J.3
DesChamps, J.4
Beck, F.5
-
13
-
-
0029956917
-
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
-
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
-
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
-
16
-
-
0037108758
-
Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia
-
Chumakov I, Blumenfeld M, Guerassimenko O, Caverec L, Palicio M, Abderrahim H, Bougueleret L, Barry C, Tanaka H, La Rosa P, Puech A, Tahri N, Cohen-Akenine A, Delabrosse S, Lissarrague S, Picard FP, Maurice K, Essioux L, Millasseau P, Grel P, Debailleul V, Simon AM, Caterina D, Dufaure I, Malekzadeh K, Belova M, Luan JJ, Bouillot M, Sambucy JL, Primas G, Saumier M, Boubkiri N, Martin-Saumier S, Nasroune M, Peixoto H, Delaye A, Pinchot V, Bastucci M, Guillou S, Chevillon M, Sainz-Fuertes R, Meguenni S, Aurich-Costa J, Cherif D, Gimalac A, Van Duijn C, Vauvreau D, Ouellette G, Fortier I, Raelson J, Sherbatich T, Riazanskaia N, Rogaev E, Raeymaekers P, Aerssens J, Konings F, Luyten W, Macciardi F, Sham PC, Straub RE, Weinberger Dr. Cohen N, Cohen D, Ouelette G, Realson J. 2002. Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia. Proc Natl Acad Sci USA 99:13365-13367.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 13365-13367
-
-
Chumakov, I.1
Blumenfeld, M.2
Guerassimenko, O.3
Caverec, L.4
Palicio, M.5
Abderrahim, H.6
Bougueleret, L.7
Barry, C.8
Tanaka, H.9
La Rosa, P.10
Puech, A.11
Tahri, N.12
Cohen-Akenine, A.13
Delabrosse, S.14
Lissarrague, S.15
Picard, F.P.16
Maurice, K.17
Essioux, L.18
Millasseau, P.19
Grel, P.20
Debailleul, V.21
Simon, A.M.22
Caterina, D.23
Dufaure, I.24
Malekzadeh, K.25
Belova, M.26
Luan, J.J.27
Bouillot, M.28
Sambucy, J.L.29
Primas, G.30
Saumier, M.31
Boubkiri, N.32
Martin-Saumier, S.33
Nasroune, M.34
Peixoto, H.35
Delaye, A.36
Pinchot, V.37
Bastucci, M.38
Guillou, S.39
Chevillon, M.40
Sainz-Fuertes, R.41
Meguenni, S.42
Aurich-Costa, J.43
Cherif, D.44
Gimalac, A.45
Van Duijn, C.46
Vauvreau, D.47
Ouellette, G.48
Fortier, I.49
Raelson, J.50
Sherbatich, T.51
Riazanskaia, N.52
Rogaev, E.53
Raeymaekers, P.54
Aerssens, J.55
Konings, F.56
Luyten, W.57
Macciardi, F.58
Sham, P.C.59
Straub, R.E.60
Weinberger, D.61
Cohen, N.62
Cohen, D.63
Ouelette, G.64
Realson, J.65
more..
-
17
-
-
0031452133
-
Neural tube defects in chromosomally normal and abnormal human embryos
-
Coerdt W, Miller K, Holzgreve W, Rauskolb R, Schwinger E, Rehder H. 1997. Neural tube defects in chromosomally normal and abnormal human embryos. Ultrasound Obstet Gynecol 10:410-415.
-
(1997)
Ultrasound Obstet Gynecol
, vol.10
, pp. 410-415
-
-
Coerdt, W.1
Miller, K.2
Holzgreve, W.3
Rauskolb, R.4
Schwinger, E.5
Rehder, H.6
-
18
-
-
0017237977
-
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
-
19
-
-
0034722837
-
Folate pathway gene alterations in patients with neural tube defects
-
De Marco P, Moroni A, Merello E, deFranchis R, Andreussi L, Finnell RH, Barber RC, Cama A, Capra V. 2000. Folate pathway gene alterations in patients with neural tube defects. Am J Med Genet 95:216-223.
-
(2000)
Am J Med Genet
, vol.95
, pp. 216-223
-
-
De Marco, P.1
Moroni, A.2
Merello, E.3
DeFranchis, R.4
Andreussi, L.5
Finnell, R.H.6
Barber, R.C.7
Cama, A.8
Capra, V.9
-
20
-
-
0033012881
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
30
-
-
0028316227
-
Exclusion mapping of the gene for X-linked neural tube defects in an Icelandic family
-
Hol FA, Geurds MP, Jensson O, Hamel BC, Moore GE, Newton R, Mariman EC. 1994. Exclusion mapping of the gene for X-linked neural tube defects in an Icelandic family. Hum Genet 93:452-456.
-
(1994)
Hum Genet
, vol.93
, pp. 452-456
-
-
Hol, F.A.1
Geurds, M.P.2
Jensson, O.3
Hamel, B.C.4
Moore, G.E.5
Newton, R.6
Mariman, E.C.7
-
31
-
-
0034667325
-
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
-
32
-
-
0030047177
-
Aneuploidy among prenatally detected neural tube defects
-
Hume RF Jr, Drugan A, Reichler A, Lampinen J, Martin LS, Johnson MP, Evans MI. 1996. Aneuploidy among prenatally detected neural tube defects. Am J Med Genet 61:171-173.
-
(1996)
Am J Med Genet
, vol.61
, pp. 171-173
-
-
Hume Jr., R.F.1
Drugan, A.2
Reichler, A.3
Lampinen, J.4
Martin, L.S.5
Johnson, M.P.6
Evans, M.I.7
-
33
-
-
2342646164
-
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
-
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
-
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
-
36
-
-
0025222244
-
Unusual mosaic trisomy 13 through 13/13 transiocation and monosomy 13 with a small ring
-
Jalal SM, Martin JA, Benjamin TR, Kukolich MK, Townsend-Parcham JK. 1990. Unusual mosaic trisomy 13 through 13/13 transiocation and monosomy 13 with a small ring. Ann Genet 33:173-175.
-
(1990)
Ann Genet
, vol.33
, pp. 173-175
-
-
Jalal, S.M.1
Martin, J.A.2
Benjamin, T.R.3
Kukolich, M.K.4
Townsend-Parcham, J.K.5
-
37
-
-
0023925265
-
A family showing apparent X linked inheritance of both anencephaly and spina bifida
-
Jensson O, Arnason A, Gunnardottir H, Petursdottir I, Fossdal R, Hreidarsson S. 1988. A family showing apparent X linked inheritance of both anencephaly and spina bifida. J Med Genet 25:227-229.
-
(1988)
J Med Genet
, vol.25
, pp. 227-229
-
-
Jensson, O.1
Arnason, A.2
Gunnardottir, H.3
Petursdottir, I.4
Fossdal, R.5
Hreidarsson, S.6
-
38
-
-
0030744231
-
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
-
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
-
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
-
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
-
42
-
-
0034102180
-
Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningocele
-
Kennedy D, Silver MM, Winsor EJ, Toi A, Provias J, Macha M, Precht K, Ledbetter DH, Chitayat D. 2000. Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningocele. Am J Med Genet 91:167-170.
-
(2000)
Am J Med Genet
, vol.91
, pp. 167-170
-
-
Kennedy, D.1
Silver, M.M.2
Winsor, E.J.3
Toi, A.4
Provias, J.5
Macha, M.6
Precht, K.7
Ledbetter, D.H.8
Chitayat, D.9
-
43
-
-
0036678928
-
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
-
44
-
-
12144291350
-
-
Laumonnier F, Bonnet-Brilhault F, Gomot M, Blanc R, David A, Moizard MP, Raynaud M, Ronce N, Lemonnier E, Calvas P, Laudier B, Chelly J, Fryns JP, Ropers HH, Hamel BC, Andres C, Barthelemy C, Moraine C, Briauit S. 2004. Am J Hum Genet 74:552-557.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 552-557
-
-
Laumonnier, F.1
Bonnet-Brilhault, F.2
Gomot, M.3
Blanc, R.4
David, A.5
Moizard, M.P.6
Raynaud, M.7
Ronce, N.8
Lemonnier, E.9
Calvas, P.10
Laudier, B.11
Chelly, J.12
Fryns, J.P.13
Ropers, H.H.14
Hamel, B.C.15
Andres, C.16
Barthelemy, C.17
Moraine, C.18
Briauit, S.19
-
45
-
-
0032213969
-
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
-
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
-
49
-
-
0034785187
-
Terminal 6q25.3 deletion and abnormal behaviour
-
Lukusa T, Willekens D, Lukusa N, De Cock F, Fryns JP. 2001. Terminal 6q25.3 deletion and abnormal behaviour. Genet Couns 12:213-221.
-
(2001)
Genet Couns
, vol.12
, pp. 213-221
-
-
Lukusa, T.1
Willekens, D.2
Lukusa, N.3
De Cock, F.4
Fryns, J.P.5
-
50
-
-
0034105691
-
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
-
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
-
52
-
-
0028925114
-
Trisomy 2p: Analysis of unusual phenotypic findings
-
Lurie IW, Ilyina HG, Gurevich DB, Rumyantseva NV, Naumchik IV, Castellan C, Hoeller A, Schinzel A. 1995. Trisomy 2p: Analysis of unusual phenotypic findings. Am J Med Genet 55:229-236.
-
(1995)
Am J Med Genet
, vol.55
, pp. 229-236
-
-
Lurie, I.W.1
Ilyina, H.G.2
Gurevich, D.B.3
Rumyantseva, N.V.4
Naumchik, I.V.5
Castellan, C.6
Hoeller, A.7
Schinzel, A.8
-
53
-
-
0033852321
-
Autosomal dominant sacral agenesis: Currarino syndrome
-
Lynch SA, Wang Y, Strachan T, Burn J, Lindsay S. 2000. Autosomal dominant sacral agenesis: Currarino syndrome. J Med Genet 37:561-566.
-
(2000)
J Med Genet
, vol.37
, pp. 561-566
-
-
Lynch, S.A.1
Wang, Y.2
Strachan, T.3
Burn, J.4
Lindsay, S.5
-
54
-
-
0024344538
-
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
-
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
-
57
-
-
0343032650
-
Neural tube defects and facial features of holosprosencephaly: A non-random association
-
Lake Arrowhead, CA
-
Moore CA, Li S, Hong S, Gu H, Li Z, Berry RJ, Mulinare J. 1996. Neural tube defects and facial features of holosprosencephaly: A non-random association. Presented at the seventeenth Annual David W. Smith Work-shop on Malformations & Morphogenesis, Lake Arrowhead, CA.
-
(1996)
Seventeenth Annual David W. Smith Work-shop on Malformations & Morphogenesis
-
-
Moore, C.A.1
Li, S.2
Hong, S.3
Gu, H.4
Li, Z.5
Berry, R.J.6
Mulinare, J.7
-
58
-
-
0027238926
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
66
-
-
0028206138
-
Terminal deletion of Xp in a dysmorphic anencephalic fetus
-
Plaja A, Vendrell T, Sarrett E, Toran N, Mediano C. 1994. Terminal deletion of Xp in a dysmorphic anencephalic fetus. Prenat Diagn 14:410-412.
-
(1994)
Prenat Diagn
, vol.14
, pp. 410-412
-
-
Plaja, A.1
Vendrell, T.2
Sarrett, E.3
Toran, N.4
Mediano, C.5
-
67
-
-
0031230465
-
Letter. Mutations in CDMP1 cause autosomal dominant brachydactyly type C
-
Polinkovsky A, Robin NH, Thomas JT, Irons M, Lynn A, Goodman FR, Reardon W, Kant SG, Brunner HG, van der Brugt I, Chitayat D, McGaughran J, Donnai D, Luvten FP, Warman ML. 1997. Letter. Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat Genet 17:18-19.
-
(1997)
Nat Genet
, vol.17
, pp. 18-19
-
-
Polinkovsky, A.1
Robin, N.H.2
Thomas, J.T.3
Irons, M.4
Lynn, A.5
Goodman, F.R.6
Reardon, W.7
Kant, S.G.8
Brunner, H.G.9
Van Der Brugt, I.10
Chitayat, D.11
McGaughran, J.12
Donnai, D.13
Luvten, F.P.14
Warman, M.L.15
-
68
-
-
0026481219
-
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
-
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
-
70
-
-
0025372272
-
Trisomy 13 syndrome and neural tube defects
-
Rodriguez JL, Garcia M, Morales C, Morillo A, Delicado A. 1990. Trisomy 13 syndrome and neural tube defects. Am J Med Genet 36:513-516.
-
(1990)
Am J Med Genet
, vol.36
, pp. 513-516
-
-
Rodriguez, J.L.1
Garcia, M.2
Morales, C.3
Morillo, A.4
Delicado, A.5
-
71
-
-
0036605109
-
Terminal deletion of the chromosome 7(q36-qter) in an infant with sacral agenesis and anterior myelomeningocele
-
Rodriguez L, Cuadrado Perez I, Herrera Montes J, Lorente Jareno ML, Lopez Grondona F, Martinez-Frias ML. 2002. Terminal deletion of the chromosome 7(q36-qter) in an infant with sacral agenesis and anterior myelomeningocele. Am J Med Genet 110:73-77.
-
(2002)
Am J Med Genet
, vol.110
, pp. 73-77
-
-
Rodriguez, L.1
Cuadrado Perez, I.2
Herrera Montes, J.3
Lorente Jareno, M.L.4
Lopez Grondona, F.5
Martinez-Frias, M.L.6
-
72
-
-
0030294408
-
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
-
Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui LC, Muenke M. 1996. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet 14:357-360.
-
(1996)
Nat Genet
, vol.14
, pp. 357-360
-
-
Roessler, E.1
Belloni, E.2
Gaudenz, K.3
Jay, P.4
Berta, P.5
Scherer, S.W.6
Tsui, L.C.7
Muenke, M.8
-
73
-
-
0023427744
-
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
-
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
-
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
-
78
-
-
0036009946
-
Microdeletion22q11.2, Kousseff syndrome, and spina bifida
-
Seller MJ, Mohammed S, Russell J, Ogilvie C. 2002. Microdeletion22q11.2, Kousseff syndrome, and spina bifida. Clin Dysmorphol 11:113-115.
-
(2002)
Clin Dysmorphol
, vol.11
, pp. 113-115
-
-
Seller, M.J.1
Mohammed, S.2
Russell, J.3
Ogilvie, C.4
-
80
-
-
0031040185
-
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
-
81
-
-
0031571164
-
The human gene ZFP161 on 18p11.21-pter encodes a putative c-myc repressor and is homologous to murine ZFp161 (chr 17) and Zfp161-rsl (X chr)
-
Sobek-Klocke I, Disque-Kochem C, Ronsiek M, Klocke R, Jockusch H, Breuning A, Ponstingl H, Rojas K, Overhausen J, Eichenlaub-Ritter U. 1997. The human gene ZFP161 on 18p11.21-pter encodes a putative c-myc repressor and is homologous to murine ZFp161 (chr 17) and Zfp161-rsl (X chr). Genomics 43:156-164.
-
(1997)
Genomics
, vol.43
, pp. 156-164
-
-
Sobek-Klocke, I.1
Disque-Kochem, C.2
Ronsiek, M.3
Klocke, R.4
Jockusch, H.5
Breuning, A.6
Ponstingl, H.7
Rojas, K.8
Overhausen, J.9
Eichenlaub-Ritter, U.10
-
82
-
-
0028837447
-
Exencephaly in autosomal dominant brachydactyly syndrome
-
Stagiannis KD, Sepulveda W, Fusi L, Garrett C, Fisk NM. 1995. Exencephaly in autosomal dominant brachydactyly syndrome. Prenat Diagn 15:70-73.
-
(1995)
Prenat Diagn
, vol.15
, pp. 70-73
-
-
Stagiannis, K.D.1
Sepulveda, W.2
Fusi, L.3
Garrett, C.4
Fisk, N.M.5
-
83
-
-
0019472306
-
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
-
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
-
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
-
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
-
88
-
-
0030978737
-
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
-
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
-
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
-
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
-
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
-
93
-
-
0024787708
-
Trisomy 20p from maternal translocation and anencephaly. Case report and genetic review
-
Zumel RM, Darnaude MT, Delicado A, Diaz de Bustamante A, de Torres ML, López-Pajares I. 1989. Trisomy 20p from maternal translocation and anencephaly. Case report and genetic review. Ann Genet 32:247-249.
-
(1989)
Ann Genet
, vol.32
, pp. 247-249
-
-
Zumel, R.M.1
Darnaude, M.T.2
Delicado, A.3
Diaz De Bustamante, A.4
De Torres, M.L.5
López-Pajares, I.6
|