-
1
-
-
0027117866
-
Recommendations for the use of folic acid to reduce the number of cases of spina bifida and other neural tube defects
-
Centers for Disease Control and Prevention: Recommendations for the use of folic acid to reduce the number of cases of spina bifida and other neural tube defects. Morbidity Mortality Weekly 1992;41:1-7.
-
(1992)
Morbidity Mortality Weekly
, vol.41
, pp. 1-7
-
-
-
2
-
-
0024993562
-
The embryonic development of mammalian neural tube defects
-
Copp AJ, Brook FA, Estibeiro JP, Shum ASW, Cockcroft DL: The embryonic development of mammalian neural tube defects. Prog Neurobiol 1990;35:363-403.
-
(1990)
Prog Neurobiol
, vol.35
, pp. 363-403
-
-
Copp, A.J.1
Brook, F.A.2
Estibeiro, J.P.3
Shum, A.S.W.4
Cockcroft, D.L.5
-
3
-
-
4243367072
-
Variable presentation of neural tube defects in three families
-
George TM, Wolpert CM, Worley G, Mackey JF, Fuchs HE, Speer MC: Variable presentation of neural tube defects in three families. Am J Hum Genet 1996;59:A93.
-
(1996)
Am J Hum Genet
, vol.59
-
-
George, T.M.1
Wolpert, C.M.2
Worley, G.3
Mackey, J.F.4
Fuchs, H.E.5
Speer, M.C.6
-
4
-
-
0025364510
-
Mechanisms of neurulation: Traditional viewpoint and recent advances
-
Schoenwolf GC, Smith GL: Mechanisms of neurulation: Traditional viewpoint and recent advances. Development 1990;109:243-270.
-
(1990)
Development
, vol.109
, pp. 243-270
-
-
Schoenwolf, G.C.1
Smith, G.L.2
-
5
-
-
0021240226
-
Histological and ultrastructural studies of secondary neurulation in mouse embryos
-
Schoenwolf GC: Histological and ultrastructural studies of secondary neurulation in mouse embryos. Am J Anat 1984;169:361-376.
-
(1984)
Am J Anat
, vol.169
, pp. 361-376
-
-
Schoenwolf, G.C.1
-
6
-
-
84981812991
-
The role of folic acid in pregnancy with particular reference to anaemia, abruption and abortion
-
Hibbard BM: The role of folic acid in pregnancy with particular reference to anaemia, abruption and abortion. J Obstet Gynaecol Br Commonwealth 1964;71:529-542.
-
(1964)
J Obstet Gynaecol Br Commonwealth
, vol.71
, pp. 529-542
-
-
Hibbard, B.M.1
-
7
-
-
0024389016
-
Multivitamin/folic acid supplementation in early pregnancy reduces the prevalence of neural tube defects
-
Milunsky A, Jick H, Jick SS, et al: Multivitamin/folic acid supplementation in early pregnancy reduces the prevalence of neural tube defects. JAMA 1991;262:2847-2852.
-
(1991)
JAMA
, vol.262
, pp. 2847-2852
-
-
Milunsky, A.1
Jick, H.2
Jick, S.S.3
-
8
-
-
0025863475
-
Prevention of neural tube defects: Results of the medical research council vitamin study
-
Medical Research Council Vitamin Study Research Group: Prevention of neural tube defects: Results of the Medical Research Council Vitamin Study. Lancet 1991;338:131-137.
-
(1991)
Lancet
, vol.338
, pp. 131-137
-
-
-
9
-
-
0027993137
-
Risks in spina bifida
-
Seller MJ: Risks in spina bifida. Dev Med Child Neurol 1994;36:1021-1025.
-
(1994)
Dev Med Child Neurol
, vol.36
, pp. 1021-1025
-
-
Seller, M.J.1
-
10
-
-
0022629174
-
Neural tube defects: Issues in prenatal diagnosis and counselling
-
Main DM, Mennuti MT: Neural tube defects: Issues in prenatal diagnosis and counselling. Obstet Gynecol 1986;67:1-16.
-
(1986)
Obstet Gynecol
, vol.67
, pp. 1-16
-
-
Main, D.M.1
Mennuti, M.T.2
-
11
-
-
0019965961
-
Maternal valproic acid and congenital neural tube defects
-
Robert E, Guibaud P: Maternal valproic acid and congenital neural tube defects. Lancet 1982;ii:937.
-
(1982)
Lancet
, vol.2
, pp. 937
-
-
Robert, E.1
Guibaud, P.2
-
13
-
-
0026030573
-
Spina bifida in infants of women treated with carbamazepine during pregnancy
-
Rosa FW: Spina bifida in infants of women treated with carbamazepine during pregnancy. N Engl J Med 1991;324:674-677.
-
(1991)
N Engl J Med
, vol.324
, pp. 674-677
-
-
Rosa, F.W.1
-
14
-
-
0029869816
-
Prepregnant weight in relation to risk of neural tube defects
-
Werler MM, Louik C, Shapiro S, Mitchell AA: Prepregnant weight in relation to risk of neural tube defects. JAMA 1996;275:1089-1092.
-
(1996)
JAMA
, vol.275
, pp. 1089-1092
-
-
Werler, M.M.1
Louik, C.2
Shapiro, S.3
Mitchell, A.A.4
-
15
-
-
0029869817
-
Risk of neural tube defect - Affected pregnancies among obese women
-
Shaw GM, Velie EM, Schaffer D: Risk of neural tube defect - Affected pregnancies among obese women. JAMA 1996;275:1093-1096.
-
(1996)
JAMA
, vol.275
, pp. 1093-1096
-
-
Shaw, G.M.1
Velie, E.M.2
Schaffer, D.3
-
19
-
-
0019968058
-
Spinal dysraphia as an autosomal dominant defect in four families
-
Fineman RM, Jorde LB, Martin RA, Hasstedt SJ, Wing SD, Walker ML: Spinal dysraphia as an autosomal dominant defect in four families. Am J Med Genet 1982;12:457-464.
-
(1982)
Am J Med Genet
, vol.12
, pp. 457-464
-
-
Fineman, R.M.1
Jorde, L.B.2
Martin, R.A.3
Hasstedt, S.J.4
Wing, S.D.5
Walker, M.L.6
-
20
-
-
0025305699
-
Evidence for a major gene in familial anencephaly
-
Shaffer LG, Marazita ML, Bodurtha J, Newlin A, Nance WE: Evidence for a major gene in familial anencephaly. Am J Med Genet 1990;36:97-101.
-
(1990)
Am J Med Genet
, vol.36
, pp. 97-101
-
-
Shaffer, L.G.1
Marazita, M.L.2
Bodurtha, J.3
Newlin, A.4
Nance, W.E.5
-
21
-
-
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, et al: 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 1994;45:241-249.
-
(1994)
Clin Genet
, vol.45
, pp. 241-249
-
-
Newton, R.1
Stanier, P.2
Loughna, S.3
-
22
-
-
0028000966
-
Linkage analysis of a candidate locus (HLA) in autosomal dominant sacral defect with anterior meningocele
-
Chatkupt S, Speer MC, Ding Y, et al: Linkage analysis of a candidate locus (HLA) in autosomal dominant sacral defect with anterior meningocele. Am J Med Genet 1994;52:1-4.
-
(1994)
Am J Med Genet
, vol.52
, pp. 1-4
-
-
Chatkupt, S.1
Speer, M.C.2
Ding, Y.3
-
23
-
-
0019967113
-
A five-generation family with sacral agenesis and spina bifida: Possible similarities with the mouse T-locus
-
Fellous M, Boue J, Malbrunot C, et al: A five-generation family with sacral agenesis and spina bifida: Possible similarities with the mouse T-locus. Am J Med Genet 1982;12:465-487.
-
(1982)
Am J Med Genet
, vol.12
, pp. 465-487
-
-
Fellous, M.1
Boue, J.2
Malbrunot, C.3
-
24
-
-
0022522868
-
Neural tube defects in spontaneous abortions
-
Byrne J, Warburton D: Neural tube defects in spontaneous abortions. Am J Med Genet 1986;25:327-333.
-
(1986)
Am J Med Genet
, vol.25
, pp. 327-333
-
-
Byrne, J.1
Warburton, D.2
-
25
-
-
0028954153
-
Cytogenetics of the tissue involved in neural tube defects
-
Haupt R, Bryne J, Defferrari R, et al: Cytogenetics of the tissue involved in neural tube defects. Genet Couns 1995;6:49-53.
-
(1995)
Genet Couns
, vol.6
, pp. 49-53
-
-
Haupt, R.1
Bryne, J.2
Defferrari, R.3
-
26
-
-
0030047177
-
Aneuploidy among prenatally detected neural tube defects
-
Hume RF, Drugan A, Reichler A, et al: Aneuploidy among prenatally detected neural tube defects. Am J Med Genet 1996;61:171-173.
-
(1996)
Am J Med Genet
, vol.61
, pp. 171-173
-
-
Hume, R.F.1
Drugan, A.2
Reichler, A.3
-
27
-
-
0028801633
-
Prenatally detected fetal myelomeningocele: Is karyotype analysis warranted?
-
Babcook CJ, Goldstein RB: Prenatally detected fetal myelomeningocele: Is Karyotype analysis warranted? Radiology 1995;194:491-494.
-
(1995)
Radiology
, vol.194
, pp. 491-494
-
-
Babcook, C.J.1
Goldstein, R.B.2
-
28
-
-
0032557731
-
Prenatally diagnosed neural tube defects: Ultrasound, chromosome, and autopsy or postnatal findings in 212 cases
-
Kennedy D, Chitayat D, Winsor EJT, Silver M, Toi A: Prenatally diagnosed neural tube defects: Ultrasound, chromosome, and autopsy or postnatal findings in 212 cases. Am J Med Genet 1998;77:317-321.
-
(1998)
Am J Med Genet
, vol.77
, pp. 317-321
-
-
Kennedy, D.1
Chitayat, D.2
Winsor, E.J.T.3
Silver, M.4
Toi, A.5
-
29
-
-
0024420306
-
Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly
-
Munke M: Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly. Am J Med Genet 1989;34:237-245.
-
(1989)
Am J Med Genet
, vol.34
, pp. 237-245
-
-
Munke, M.1
-
30
-
-
0023428540
-
The value of chromosome analysis in cases of neural tube defects: A case of anencephaly associated with fetal dup(2)(p24rpter)
-
Singer N, Gersen S: The value of chromosome analysis in cases of neural tube defects: A case of anencephaly associated with fetal dup(2)(p24rpter). Prenat Diagn 1987;7:567-571.
-
(1987)
Prenat Diagn
, vol.7
, pp. 567-571
-
-
Singer, N.1
Gersen, S.2
-
31
-
-
0038553730
-
Faut-il caryotyper les parents d'enfants atteints d'anomalies de fermeuture du tube neural?
-
Walbaum R, Peyrat MF, Van de Velde MF, Buerin DM, Bethouart M, Farriaux JP: Faut-il caryotyper les parents d'enfants atteints d'anomalies de fermeuture du tube neural? J Genet Hum 1984;32:307.
-
(1984)
J Genet Hum
, vol.32
, pp. 307
-
-
Walbaum, R.1
Peyrat, M.F.2
Van De Velde, M.F.3
Buerin, D.M.4
Bethouart, M.5
Farriaux, J.P.6
-
32
-
-
0030978737
-
A report of recurrent ancncephaly with trisomy 2p33-2pter: Additional evidence for the involvement of 2p24 in neural tube development and evaluation of the role for cytogenetic analysis
-
Winsor SHM, McGrath MJ, Khalifa M, Duncan AMV: A report of recurrent ancncephaly with trisomy 2p33-2pter: Additional evidence for the involvement of 2p24 in neural tube development and evaluation of the role for cytogenetic analysis. Prenat Diagn 1997;12:665-669.
-
(1997)
Prenat Diagn
, vol.12
, pp. 665-669
-
-
Winsor, S.H.M.1
McGrath, M.J.2
Khalifa, M.3
Duncan, A.M.V.4
-
33
-
-
0025355150
-
Terminal deletions of the long arm of chromosome 7: Five new cases
-
Bogart MH, Cunniff C, Bradshaw C, Jones KL, Jones OW: Terminal deletions of the long arm of chromosome 7: Five new cases. Am J Med Genet 1990;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
-
34
-
-
0016136814
-
Chromosome constitution of 500 infants dying during the perinatal period
-
Machin GA, Crolla JA: Chromosome constitution of 500 infants dying during the perinatal period. Humangenetik 1974;23:183-198.
-
(1974)
Humangenetik
, vol.23
, pp. 183-198
-
-
Machin, G.A.1
Crolla, J.A.2
-
35
-
-
0027402372
-
Preliminary definition of a 'critical region' of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature
-
Brown S, Gersen S, Anyane-Yeboa K, Warburton D: Preliminary definition of a 'critical region' of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature. Am J Med Genet 1993;45:52-59.
-
(1993)
Am J Med Genet
, vol.45
, pp. 52-59
-
-
Brown, S.1
Gersen, S.2
Anyane-Yeboa, K.3
Warburton, D.4
-
36
-
-
0026697760
-
Ring chromosome 13: Lack of distinct syndromes based on different breakpoints on 13q
-
Brandt CA, Hertz JM, Peterson MB, Vogel F, Noer H, Mikkelsen M: Ring chromosome 13: Lack of distinct syndromes based on different breakpoints on 13q. J Med Genet 1992;29:704-708.
-
(1992)
J Med Genet
, vol.29
, pp. 704-708
-
-
Brandt, C.A.1
Hertz, J.M.2
Peterson, M.B.3
Vogel, F.4
Noer, H.5
Mikkelsen, M.6
-
37
-
-
0023425149
-
Fetal karyotype following ascertainment of fetal anomalies by ultrasound
-
Palmer CG, Miles JH, Howard-Pebbles PN, Magenis RE, Patil S, Friedman JM: Fetal karyotype following ascertainment of fetal anomalies by ultrasound. Prenal Diagn 1987;7:551-555.
-
(1987)
Prenal Diagn
, vol.7
, pp. 551-555
-
-
Palmer, C.G.1
Miles, J.H.2
Howard-Pebbles, P.N.3
Magenis, R.E.4
Patil, S.5
Friedman, J.M.6
-
38
-
-
0024905706
-
Aneuploidy with neural tube defects: Another reason for complete evaluation in patients with suspected ultrasound anomalies or elevated maternal serum alpha-fetoprotein
-
Drugan A, Johnson MP, Dvorin E, et al: Aneuploidy with neural tube defects: Another reason for complete evaluation in patients with suspected ultrasound anomalies or elevated maternal serum alpha-fetoprotein. Fetal Ther 1989;4:88-82.
-
(1989)
Fetal Ther
, vol.4
, pp. 88-182
-
-
Drugan, A.1
Johnson, M.P.2
Dvorin, E.3
-
40
-
-
0018855622
-
The fragile site on chromosome 16(q21q22): Data on four new families
-
Shabtai F, Bichacho S, Halbrecht I: The fragile site on chromosome 16(q21q22): Data on four new families. Hum Genet 1980;55:19-22.
-
(1980)
Hum Genet
, vol.55
, pp. 19-22
-
-
Shabtai, F.1
Bichacho, S.2
Halbrecht, I.3
-
44
-
-
0029027715
-
Neural tube defects, chromosome abnormalities and multiple closure sites for the human neural tube
-
Seller MJ: Neural tube defects, chromosome abnormalities and multiple closure sites for the human neural tube. Clin Dysmorphol 1995;4:202-207.
-
(1995)
Clin Dysmorphol
, vol.4
, pp. 202-207
-
-
Seller, M.J.1
-
45
-
-
0018125792
-
Anencephaly in trisome 18 associated with elevated alpha-1-fetoprotein in amniotic fluid
-
Merrild U, Schiøler V, Christensen F, Wolny E, Edeling CJ: Anencephaly in trisome 18 associated with elevated alpha-1-fetoprotein in amniotic fluid. Hum Genet 1978;45:85-88.
-
(1978)
Hum Genet
, vol.45
, pp. 85-88
-
-
Merrild, U.1
Schiøler, V.2
Christensen, F.3
Wolny, E.4
Edeling, C.J.5
-
46
-
-
0024787708
-
Trisomy 20p from maternal translocation and anencephaly case report and genetic review
-
Zumel RM, Darnaude MT, Delicado A, Diaz de Bustamante ML, de Torres I, Pajares L: Trisomy 20p from maternal translocation and anencephaly case report and genetic review. Ann Genet 1989;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, M.L.4
De Torres, I.5
Pajares, L.6
-
47
-
-
0028206138
-
Terminal delection of Xp in a dysmorphic anencephalic fetus
-
Plaja A, Vendress T, Sarret E, Toran N, Mediano C: Terminal delection of Xp in a dysmorphic anencephalic fetus. Prenat Diagn 1994;14:401-412.
-
(1994)
Prenat Diagn
, vol.14
, pp. 401-412
-
-
Plaja, A.1
Vendress, T.2
Sarret, E.3
Toran, N.4
Mediano, C.5
-
48
-
-
0032557733
-
Multiple congenital anomalies in a fetus with 45, X/46, X.r(X)(p11/22q12) mosaicism
-
Malgorzata JM, Nowaczyk JA, Ramsay PM, Tomkins DJ: Multiple congenital anomalies in a fetus with 45, X/46, X.r(X)(p11/22q12) mosaicism. Am J Med Genet 1998;77:306-309.
-
(1998)
Am J Med Genet
, vol.77
, pp. 306-309
-
-
Malgorzata, J.M.1
Nowaczyk, J.A.2
Ramsay, P.M.3
Tomkins, D.J.4
-
49
-
-
0015616480
-
Presumptive direct insertion within chromosome 2 in man
-
Therkelsen AJ, Hulten M, Honasson J, Lindsten J, Christensen NC, Iversen T: Presumptive direct insertion within chromosome 2 in man. Ann Hum Genet 1973;36:367-373.
-
(1973)
Ann Hum Genet
, vol.36
, pp. 367-373
-
-
Therkelsen, A.J.1
Hulten, M.2
Honasson, J.3
Lindsten, J.4
Christensen, N.C.5
Iversen, T.6
-
50
-
-
0020578734
-
Variable phenotype associated with duplication of different regions of 2p
-
Fineman RM, Buyse M, Morgan M: Variable phenotype associated with duplication of different regions of 2p. Am J Med Genet 1983;15:451-456.
-
(1983)
Am J Med Genet
, vol.15
, pp. 451-456
-
-
Fineman, R.M.1
Buyse, M.2
Morgan, M.3
-
51
-
-
0032477782
-
Meningomyelocele and Waardenburg syndrome (type 3) in patients with interstitial deletion of 2q35 and the PAX 3 gene: Possible digenic inheritance of a neural tube defect
-
Nye JS, Balkin N, Lucas H, Knepper P, McLone D, Charrow J: Meningomyelocele and Waardenburg syndrome (type 3) in patients with interstitial deletion of 2q35 and the PAX 3 gene: Possible digenic inheritance of a neural tube defect. Am J Med Genet 1998;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.4
McLone, D.5
Charrow, J.6
-
52
-
-
0027492499
-
Interstitial deletion of chromosome 2 region in a malformed infant
-
McInyk AR, Muraskas J: Interstitial deletion of chromosome 2 region in a malformed infant. Am J Med Genet 1993;45:49-51.
-
(1993)
Am J Med Genet
, vol.45
, pp. 49-51
-
-
McInyk, A.R.1
Muraskas, J.2
-
53
-
-
0026670273
-
Multiple congenital anomalies due to partial 2p13r2pter duplication resulting from an unbalanced X;2 translocation
-
Sarda P, Lefort G, Devaux PH, Humeau C, Rieu D: Multiple congenital anomalies due to partial 2p13r2pter duplication resulting from an unbalanced X;2 translocation. Ann Genet 1992;35:117-120.
-
(1992)
Ann Genet
, vol.35
, pp. 117-120
-
-
Sarda, P.1
Lefort, G.2
Devaux, P.H.3
Humeau, C.4
Rieu, D.5
-
54
-
-
0018382839
-
Familial partial trisomy of the long arm of chromosome 3 (3q)
-
Fear C, Briggs A: Familial partial trisomy of the long arm of chromosome 3 (3q). Arch Dis Childhood 1979;54:138.
-
(1979)
Arch Dis Childhood
, vol.54
, pp. 138
-
-
Fear, C.1
Briggs, A.2
-
55
-
-
0021175899
-
Brief clinical report: Neural tube defects in dup(11q)
-
Bader PI, Haney SM, Munsick RA, Schubert SR, Hodes ME: Brief clinical report: Neural tube defects in dup(11q). Am J Med Genet 1984;19:5-8.
-
(1984)
Am J Med Genet
, vol.19
, pp. 5-8
-
-
Bader, P.I.1
Haney, S.M.2
Munsick, R.A.3
Schubert, S.R.4
Hodes, M.E.5
-
56
-
-
0018909807
-
Kleeblattschadel anomaly and partial trisomy for chromosome 13 47,XY, +der(13), t(3,13)(q24; q14)
-
McCorquodale M, Erickson RP, Robinson M, Roszczikpa K: Kleeblattschadel anomaly and partial trisomy for chromosome 13 (47,XY, +der(13), t(3,13)(q24; q14). Clin Genet 1980;17:409-414.
-
(1980)
Clin Genet
, vol.17
, pp. 409-414
-
-
McCorquodale, M.1
Erickson, R.P.2
Robinson, M.3
Roszczikpa, K.4
-
59
-
-
0027534186
-
Central nervous system malformations in trisomy 9
-
Golden JA, Schoene WC: Central nervous system malformations in trisomy 9. Neuropathol Exp Neurol 1993;52:71-77.
-
(1993)
Neuropathol Exp Neurol
, vol.52
, pp. 71-77
-
-
Golden, J.A.1
Schoene, W.C.2
-
60
-
-
0020171865
-
Delineation of trisomy 9
-
Frohlich G: Delineation of trisomy 9. J Med Genet 1982;19:316-317.
-
(1982)
J Med Genet
, vol.19
, pp. 316-317
-
-
Frohlich, G.1
-
61
-
-
0027506862
-
Familial t(11:13)(q21;q14) and the duplication 11q, 13q phenotype
-
Park JP, McDermet MK, Doody AM, Marin-Padilla JM, Moeschler JB, Wurster-Hill DH: Familial t(11:13)(q21;q14) and the duplication 11q, 13q phenotype. Am J Med Genet 1993;45:46-48.
-
(1993)
Am J Med Genet
, vol.45
, pp. 46-48
-
-
Park, J.P.1
McDermet, M.K.2
Doody, A.M.3
Marin-Padilla, J.M.4
Moeschler, J.B.5
Wurster-Hill, D.H.6
-
62
-
-
0019478646
-
Duplication of distal 11q and 22q occurrence in two unrelated families
-
Najafzadeh T: Duplication of distal 11q and 22q occurrence in two unrelated families. Am J Med Genet 1981;8:341-347.
-
(1981)
Am J Med Genet
, vol.8
, pp. 341-347
-
-
Najafzadeh, T.1
-
63
-
-
0025372272
-
Trisomy 13 syndrome and neural tube defects
-
Rodriguez JI, Garcia M, Morales C, Morillo A, Delicado A: Trisomy 13 syndrome and neural tube defects. Am J Med Genet 1990;36:513-516.
-
(1990)
Am J Med Genet
, vol.36
, pp. 513-516
-
-
Rodriguez, J.I.1
Garcia, M.2
Morales, C.3
Morillo, A.4
Delicado, A.5
-
65
-
-
0023880784
-
Significance of a single umbilical artery in fetuses with central nervous system malformations
-
Nyberg DA, Shepard T, Mack LA, Hirsch J, Luthy D, Fitzsimmons J: Significance of a single umbilical artery in fetuses with central nervous system malformations. J Ultrasound Med 1988;7:265-273.
-
(1988)
J Ultrasound Med
, vol.7
, pp. 265-273
-
-
Nyberg, D.A.1
Shepard, T.2
Mack, L.A.3
Hirsch, J.4
Luthy, D.5
Fitzsimmons, J.6
-
66
-
-
0017293829
-
Etiologic heterogeneity of neural-tube defects
-
Holmes LB, Driscoll SG, Atkins L: Etiologic heterogeneity of neural-tube defects. N Engl J Med 1976;294:365-369.
-
(1976)
N Engl J Med
, vol.294
, pp. 365-369
-
-
Holmes, L.B.1
Driscoll, S.G.2
Atkins, L.3
-
67
-
-
0022599642
-
Comparative anatomical analysis of human trisoniies 13, 18 and 21. I. The Forelimb
-
Dunlap SS, Aziz MA, Rosenbaum KN: Comparative anatomical analysis of human trisoniies 13, 18 and 21. I. The Forelimb. Teratology 1986;33:159-186.
-
(1986)
Teratology
, vol.33
, pp. 159-186
-
-
Dunlap, S.S.1
Aziz, M.A.2
Rosenbaum, K.N.3
-
68
-
-
0024344538
-
Survey of neural tube defects in spontaneously aborted embryos
-
McFadden DE, Kalousek DK: Survey of neural tube defects in spontaneously aborted embryos. Am J Med Genet 1989;32:356-358.
-
(1989)
Am J Med Genet
, vol.32
, pp. 356-358
-
-
McFadden, D.E.1
Kalousek, D.K.2
-
69
-
-
0024520943
-
Sibs with tetrasomy 18p born to a mother with trisomy 18p
-
Takeda K, Okamura T, Hasegawa T: Sibs with tetrasomy 18p born to a mother with trisomy 18p. J Med Genet 1989;26:195-197.
-
(1989)
J Med Genet
, vol.26
, pp. 195-197
-
-
Takeda, K.1
Okamura, T.2
Hasegawa, T.3
-
70
-
-
0028230566
-
Six years' experience with rapid karyotyping in prenatal diagnosis: Correlations between phenotype detected by ultrasound and fetal karyotype
-
Claussen U, Ulmer R, Beinder E, Voigt HJ: Six years' experience with rapid karyotyping in prenatal diagnosis: Correlations between phenotype detected by ultrasound and fetal karyotype. Prenat Diagn 1994;14:113-121.
-
(1994)
Prenat Diagn
, vol.14
, pp. 113-121
-
-
Claussen, U.1
Ulmer, R.2
Beinder, E.3
Voigt, H.J.4
-
71
-
-
0022495718
-
Maternal serum alpha-fetoprotein in presence of both neural tube defects and chromosome anomalies
-
Williamson RA, Weiner CP, Murray J: Maternal serum alpha-fetoprotein in presence of both neural tube defects and chromosome anomalies. Lancet 1986;ii:757.
-
(1986)
Lancet
, vol.2
, pp. 757
-
-
Williamson, R.A.1
Weiner, C.P.2
Murray, J.3
-
72
-
-
0023791733
-
Trisomy 18 with cantrell pentalogy in a stillborn infant
-
Fox JE, Gloster ES, Mirchandani R: Trisomy 18 with cantrell pentalogy in a stillborn infant. Am J Med Genet 1988;31:391-394.
-
(1988)
Am J Med Genet
, vol.31
, pp. 391-394
-
-
Fox, J.E.1
Gloster, E.S.2
Mirchandani, R.3
-
73
-
-
0031452133
-
Neural tube defects in chromosomally normal and abnormal human embryos
-
Coerdt W, Miller K, Holzgreve W, Rauskolb R, Schwinger E, Rehder H: Neural tube defects in chromosomally normal and abnormal human embryos. Ultrasound Obstet Gynecol 1997;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
-
74
-
-
0022615269
-
Neural tube defects in trisomy 18
-
Flannery DB, Kahler SG: Neural tube defects in trisomy 18. Prenat Diagn 1986;6:97-99.
-
(1986)
Prenat Diagn
, vol.6
, pp. 97-99
-
-
Flannery, D.B.1
Kahler, S.G.2
-
75
-
-
0014329459
-
Autosomal trisomy syndromes: A detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome
-
Taylor AI: Autosomal trisomy syndromes: A detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's Syndrome. J Med Genet 1968;5:227-252.
-
(1968)
J Med Genet
, vol.5
, pp. 227-252
-
-
Taylor, A.I.1
-
76
-
-
0019483487
-
Descriptive neuropathology of chromosomal disorders in man
-
Gullotta F, Rehder H, Gropp A: Descriptive neuropathology of chromosomal disorders in man. Hum Genet 1981;57:337-344.
-
(1981)
Hum Genet
, vol.57
, pp. 337-344
-
-
Gullotta, F.1
Rehder, H.2
Gropp, A.3
-
77
-
-
0029956830
-
Neural tube defects and deletions of 22q11
-
Nickel RE, Magenis RE: Neural tube defects and deletions of 22q11. Am J Med Genet 1996;66:25-27.
-
(1996)
Am J Med Genet
, vol.66
, pp. 25-27
-
-
Nickel, R.E.1
Magenis, R.E.2
-
78
-
-
0029688862
-
Lumbosacral spina bifida and myeloschizis in a female fetus with de novo x/autosomal translocation (t(X;22)(q27;q121))
-
Fryns JP, Devriendt K, Moerman PH: Lumbosacral spina bifida and myeloschizis in a female fetus with de novo x/autosomal translocation (t(X;22)(q27;q121)). Genet Couns 1996;7:159-160.
-
(1996)
Genet Couns
, vol.7
, pp. 159-160
-
-
Fryns, J.P.1
Devriendt, K.2
Moerman, P.H.3
-
79
-
-
0024400245
-
Triploidy: Pregnancy complications and clinical findings in seven cases
-
Graham JM, Fawnsley EF, Simmons GM, et al: Triploidy: Pregnancy complications and clinical findings in seven cases. Prenat Diagn 1989;9:409-419.
-
(1989)
Prenat Diagn
, vol.9
, pp. 409-419
-
-
Graham, J.M.1
Fawnsley, E.F.2
Simmons, G.M.3
-
80
-
-
0017237977
-
Congenital malformations of the central nervous system in spontaneous abortions
-
Creasy MR, Alberman ED: Congenital malformations of the central nervous system in spontaneous abortions. J Med Genet 1976;13:9-16.
-
(1976)
J Med Genet
, vol.13
, pp. 9-16
-
-
Creasy, M.R.1
Alberman, E.D.2
-
81
-
-
0016238976
-
Alpha-fetoprotein levels in amniotic fluids from spontaneous abortions
-
Seller MJ, Greasey MR, Alberman ED: Alpha-fetoprotein levels in amniotic fluids from spontaneous abortions. Br Med J 1974;2:524-525.
-
(1974)
Br Med J
, vol.2
, pp. 524-525
-
-
Seller, M.J.1
Greasey, M.R.2
Alberman, E.D.3
-
82
-
-
0019865732
-
Tetraploidy in a liveborn infant with spina bifida and other anomalies
-
Pitt D, Leversha M, Sinfield C, et al: Tetraploidy in a liveborn infant with spina bifida and other anomalies. J Med Genet 1981;18:309-311.
-
(1981)
J Med Genet
, vol.18
, pp. 309-311
-
-
Pitt, D.1
Leversha, M.2
Sinfield, C.3
-
83
-
-
0027933734
-
A genome-wide search for human type 1 diabetes susceptibility genes
-
Davies JL, Kawaguchi Y, Bennett ST, et al: A genome-wide search for human type 1 diabetes susceptibility genes. Nature 1994;371:130-136.
-
(1994)
Nature
, vol.371
, pp. 130-136
-
-
Davies, J.L.1
Kawaguchi, Y.2
Bennett, S.T.3
-
84
-
-
15844368830
-
A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22
-
Saweer S, Jones HB, Feakes R, et al: A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22. Nat Genet 1996;13:464-476.
-
(1996)
Nat Genet
, vol.13
, pp. 464-476
-
-
Saweer, S.1
Jones, H.B.2
Feakes, R.3
-
85
-
-
0030716384
-
Genetic landmarks for defects in mouse neural tube closure
-
Harris MJ, Juriloff DM: Genetic landmarks for defects in mouse neural tube closure. Teratology 1997;56:177-187.
-
(1997)
Teratology
, vol.56
, pp. 177-187
-
-
Harris, M.J.1
Juriloff, D.M.2
-
86
-
-
0029007405
-
A subset of p53-deficient embryos exhibit exencephaly
-
Sah VP, Attardi LD, Mulligan GJ, Williams BO, Bronson RT, Jacks T: A subset of p53-deficient embryos exhibit exencephaly. Nat Genet 1995;10:175-180.
-
(1995)
Nat Genet
, vol.10
, pp. 175-180
-
-
Sah, V.P.1
Attardi, L.D.2
Mulligan, G.J.3
Williams, B.O.4
Bronson, R.T.5
Jacks, T.6
-
87
-
-
0027439075
-
Mutations in the paired domain of the human PAX3 gene cause Klien-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)
-
Hoth CF, Milunsky NL, Sheffer R, Clarren SK, Baldwin CT: Mutations in the paired domain of the human PAX3 gene cause Klien-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am J Hum Gen 1993;52:455-463.
-
(1993)
Am J Hum Gen
, vol.52
, pp. 455-463
-
-
Hoth, C.F.1
Milunsky, N.L.2
Sheffer, R.3
Clarren, S.K.4
Baldwin, C.T.5
-
88
-
-
0026584439
-
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
-
Baldwin CT, Hoth CF, Amos JA, daSilva EO, Milunski A: An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 1992;355:637-638.
-
(1992)
Nature
, vol.355
, pp. 637-638
-
-
Baldwin, C.T.1
Hoth, C.F.2
Amos, J.A.3
DaSilva, E.O.4
Milunski, A.5
-
89
-
-
0028954840
-
A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome
-
Hol FA, Hamel BCJ, Geurds MPA, et al: A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome. J Med Genet 1995;32:52-56.
-
(1995)
J Med Genet
, vol.32
, pp. 52-56
-
-
Hol, F.A.1
Hamel, B.C.J.2
Geurds, M.P.A.3
-
90
-
-
0026539239
-
Splotch locus mouse mutants: Models tor neural tube defects and Waardenburg syndrome type I in humans
-
Moase CE, Trasler DG: Splotch locus mouse mutants: Models tor neural tube defects and Waardenburg syndrome type I in humans. J Med Genet 1992;29:145-151.
-
(1992)
J Med Genet
, vol.29
, pp. 145-151
-
-
Moase, C.E.1
Trasler, D.G.2
-
91
-
-
0028956944
-
Absence of linkage between familial neural tube defects and PAX3 gene
-
Chatkupt S, Hol FA, Shugart YY, et al: Absence of linkage between familial neural tube defects and PAX3 gene. J Med Genet 1995;32:200-204.
-
(1995)
J Med Genet
, vol.32
, pp. 200-204
-
-
Chatkupt, S.1
Hol, F.A.2
Shugart, Y.Y.3
-
92
-
-
0029858544
-
The TDT and other family-based tests for linkage disequilibrium and association
-
Spielman RS, Ewens WJ: The TDT and other family-based tests for linkage disequilibrium and association. Am J Hum Gen 1996;59:983-989.
-
(1996)
Am J Hum Gen
, vol.59
, pp. 983-989
-
-
Spielman, R.S.1
Ewens, W.J.2
-
93
-
-
0029800387
-
Methylenetetrahydrofolate reductase mutation and neural tube defects
-
Kirke PN, Mills JL, Whitehead AS, Molloy AM, Scott JM: Methylenetetrahydrofolate reductase mutation and neural tube defects. Lancet 1996;348:1037-1038.
-
(1996)
Lancet
, vol.348
, pp. 1037-1038
-
-
Kirke, P.N.1
Mills, J.L.2
Whitehead, A.S.3
Molloy, A.M.4
Scott, J.M.5
-
94
-
-
0028844492
-
Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida
-
van der Put NM, Steegers-Theunissen RPM, Frosst P, et al: Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 1995;346:1070-1071.
-
(1995)
Lancet
, vol.346
, pp. 1070-1071
-
-
Van Der Put, N.M.1
Steegers-Theunissen, R.P.M.2
Frosst, P.3
-
95
-
-
0028803474
-
A genetic defect in 5.10 methylenetetrahydrofolate reductase in neural tube defects
-
Whitehead AS, Gallagher P, Mills JL, et al: A genetic defect in 5.10 methylenetetrahydrofolate reductase in neural tube defects. Q J Med 1995;88:763-766.
-
(1995)
Q J Med
, vol.88
, pp. 763-766
-
-
Whitehead, A.S.1
Gallagher, P.2
Mills, J.L.3
-
96
-
-
0031215455
-
The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians
-
Speer MC, Worley G, Mackey JF, et al: The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. Neurogenetics 1997;1:149-150.
-
(1997)
Neurogenetics
, vol.1
, pp. 149-150
-
-
Speer, M.C.1
Worley, G.2
Mackey, J.F.3
-
97
-
-
0031969348
-
Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects
-
Hol FA, van der Put NM, Geurds MP, et al: Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects. Clin Genet 1998;53:119-125.
-
(1998)
Clin Genet
, vol.53
, pp. 119-125
-
-
Hol, F.A.1
Van Der Put, N.M.2
Geurds, M.P.3
-
98
-
-
0032054038
-
Lack of association between mutations in folate receptor-a gene and spina bifida
-
Barber RC, Shaw GM, Lammer EJ, et al: Lack of association between mutations in folate receptor-a gene and spina bifida. Am J Med Genet 1998;76:310-317.
-
(1998)
Am J Med Genet
, vol.76
, pp. 310-317
-
-
Barber, R.C.1
Shaw, G.M.2
Lammer, E.J.3
|