-
1
-
-
0021690945
-
The syndrome of caudal dysplasia: A review including etiologic considerations and evidence of heterogeneity
-
Welch JP, Aterman K. The syndrome of caudal dysplasia: a review including etiologic considerations and evidence of heterogeneity. Pediatr Pathol 1984;2:313-27.
-
(1984)
Pediatr Pathol
, vol.2
, pp. 313-327
-
-
Welch, J.P.1
Aterman, K.2
-
2
-
-
0027154059
-
Sacral agenesis and caudal spinal cord malformations
-
Pang D. Sacral agenesis and caudal spinal cord malformations. Neurosurgery 1993;32:778-9.
-
(1993)
Neurosurgery
, vol.32
, pp. 778-779
-
-
Pang, D.1
-
3
-
-
0013901399
-
Syndrome of caudal regression in infants of diabetic mothers: Observation of further cases
-
Passarge E, Lenz W. Syndrome of caudal regression in infants of diabetic mothers: observation of further cases. Pediatrics 1966;37:672-9.
-
(1966)
Pediatrics
, vol.37
, pp. 672-679
-
-
Passarge, E.1
Lenz, W.2
-
4
-
-
0027249576
-
Case reports of malformation associated with maternal diabetes: History and critique
-
Kalter H. Case reports of malformation associated with maternal diabetes: history and critique. Clin Genet 1993;43:174-9.
-
(1993)
Clin Genet
, vol.43
, pp. 174-179
-
-
Kalter, H.1
-
5
-
-
0023172552
-
Neuroradiologic evaluation of sacral abnormalities in imperforate anus complex
-
Tunell WP, Austin JC, Barnes PD, Reynolds A. Neuroradiologic evaluation of sacral abnormalities in imperforate anus complex. J Pediatr Surg 1987;22:58-61.
-
(1987)
J Pediatr Surg
, vol.22
, pp. 58-61
-
-
Tunell, W.P.1
Austin, J.C.2
Barnes, P.D.3
Reynolds, A.4
-
6
-
-
0029868222
-
Urologic problems in anorectal malformations. Part 1. Urodynamic finding and significance of sacral anomalies
-
Boemers TM, Beek FJ, van-Gool JD, de-Jong TP, Bax KM. Urologic problems in anorectal malformations. Part 1. Urodynamic finding and significance of sacral anomalies. J Pediatr Surg 1996;31:407-10.
-
(1996)
J Pediatr Surg
, vol.31
, pp. 407-410
-
-
Boemers, T.M.1
Beek, F.J.2
Van-Gool, J.D.3
De-Jong, T.P.4
Bax, K.M.5
-
7
-
-
2442744466
-
Congenital deformities of the spine. An analysis of the roentgenograms of 700 children
-
Shands AR, Bundens WC. Congenital deformities of the spine. An analysis of the roentgenograms of 700 children. Bull Hasp Jt Dis NY 1956;17:1124.
-
(1956)
Bull Hasp Jt Dis NY
, vol.17
, pp. 1124
-
-
Shands, A.R.1
Bundens, W.C.2
-
8
-
-
0015605580
-
Hereditary sacral agenesis associated with presacral tumours
-
Kenefick JS. Hereditary sacral agenesis associated with presacral tumours. Br J Surg 1973;60:271-4.
-
(1973)
Br J Surg
, vol.60
, pp. 271-274
-
-
Kenefick, J.S.1
-
9
-
-
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 Hum Genet 1994;52:1-4.
-
(1994)
Am J Hum Genet
, vol.52
, pp. 1-4
-
-
Chatkupt, S.1
Speer, M.C.2
Ding, Y.3
-
12
-
-
0018185062
-
Sacral agenesis: A classification and review of twenty-three cases
-
Renshaw T. Sacral agenesis: a classification and review of twenty-three cases. J Bone Joint Surg 1978;3:373-83.
-
(1978)
J Bone Joint Surg
, vol.3
, pp. 373-383
-
-
Renshaw, T.1
-
13
-
-
0019967113
-
A five generation family with sacral agenesis and spina bifida: Possible similarities with the mouse T-locus
-
Fellous M, Boué 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;12:465-87.
-
(1982)
Am J Med Genet
, vol.12
, pp. 465-487
-
-
Fellous, M.1
Boué, J.2
Malbrunot, C.3
-
14
-
-
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;12:457-64.
-
(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
-
15
-
-
0029115664
-
A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36
-
Lynch S, Bond P, Copp A, et al. A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. Nat Genet 1995;11:93-5.
-
(1995)
Nat Genet
, vol.11
, pp. 93-95
-
-
Lynch, S.1
Bond, P.2
Copp, A.3
-
16
-
-
0030731948
-
The genetics of anorectal malformations: A complex matter
-
Lerone M, Bolino A, Martucciello G. The genetics of anorectal malformations: a complex matter. Semin Pediatr Surg 1997;6:170-9.
-
(1997)
Semin Pediatr Surg
, vol.6
, pp. 170-179
-
-
Lerone, M.1
Bolino, A.2
Martucciello, G.3
-
17
-
-
0029909850
-
Currarino triad with a terminal deletion 7q35→qter
-
Masuno M, Imaizumi K, Aida N, et al. Currarino triad with a terminal deletion 7q35→qter. J Med Genet 1996;33:877-8.
-
(1996)
J Med Genet
, vol.33
, pp. 877-878
-
-
Masuno, M.1
Imaizumi, K.2
Aida, N.3
-
18
-
-
0030837885
-
Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoproscencephaly
-
Roessler E, Ward DE, Gaudenez K, et al. Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoproscencephaly. Hum Genet 1997;100: 172-81.
-
(1997)
Hum Genet
, vol.100
, pp. 172-181
-
-
Roessler, E.1
Ward, D.E.2
Gaudenez, K.3
-
19
-
-
0030876204
-
Isolated sacral agenesis in a fetus monosomic for 7q36.1→qter
-
Savage NM, Maclachlan NA, Joyce CA, Moore IE, Crolla JA. Isolated sacral agenesis in a fetus monosomic for 7q36.1→qter. J Med Genet 1997;34:866-8.
-
(1997)
J Med Genet
, vol.34
, pp. 866-868
-
-
Savage, N.M.1
Maclachlan, N.A.2
Joyce, C.A.3
Moore, I.E.4
Crolla, J.A.5
-
20
-
-
0031899912
-
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly
-
Vargas FR, Roessler E, Gaudenz K, et al. Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly. Hum Genet 1998;102:387-92.
-
(1998)
Hum Genet
, vol.102
, pp. 387-392
-
-
Vargas, F.R.1
Roessler, E.2
Gaudenz, K.3
-
21
-
-
0028225024
-
Currarino triad (anorectal malformation, sacral bony abnormality and presacral mass), with partial trisomy of chromosome 13q and 20p
-
Nagai T, Katoh R, Hasegawa T, Obashi H, Fukushima Y. Currarino triad (anorectal malformation, sacral bony abnormality and presacral mass), with partial trisomy of chromosome 13q and 20p. Clin Genet 1994;45:272-3.
-
(1994)
Clin Genet
, vol.45
, pp. 272-273
-
-
Nagai, T.1
Katoh, R.2
Hasegawa, T.3
Obashi, H.4
Fukushima, Y.5
-
22
-
-
0029966604
-
The human homologue of the mouse T Brachyury gene: Gene structure, cDNA sequence, and chromosomal localisation
-
Edwards YH, Putt W, Lekoape K, et al. The human homologue of the mouse T Brachyury gene: gene structure, cDNA sequence, and chromosomal localisation. Genome Res 1995;6:226-33.
-
(1995)
Genome Res
, vol.6
, pp. 226-233
-
-
Edwards, Y.H.1
Putt, W.2
Lekoape, K.3
-
23
-
-
0029165111
-
The T protein encoded by Brachyury is a tissue-specific transcription factor
-
Kispert A, Koschorz B, Herrman BG. The T protein encoded by Brachyury is a tissue-specific transcription factor. EMBO J 1995;14:4763-72.
-
(1995)
EMBO J
, vol.14
, pp. 4763-4772
-
-
Kispert, A.1
Koschorz, B.2
Herrman, B.G.3
-
24
-
-
0023720768
-
Malformation syndromes: A review of mouse/ human homology
-
Winter R. Malformation syndromes: a review of mouse/ human homology. J Med Genet 1988;25:480-7.
-
(1988)
J Med Genet
, vol.25
, pp. 480-487
-
-
Winter, R.1
-
25
-
-
0029164902
-
The role of the notochord and floor plate in inductive interactions
-
Placzek M. The role of the notochord and floor plate in inductive interactions. Curr Opin Genet Dev 1995;5:499-506.
-
(1995)
Curr Opin Genet Dev
, vol.5
, pp. 499-506
-
-
Placzek, M.1
-
26
-
-
0000997169
-
The development of Brachyury and Anury
-
Grüneberg H. The development of Brachyury and Anury. J Embryol Exp Morphol 1958;6:424-43.
-
(1958)
J Embryol Exp Morphol
, vol.6
, pp. 424-443
-
-
Grüneberg, H.1
-
28
-
-
0028866993
-
Split notochord syndrome: Case report
-
Razack N, Page L. Split notochord syndrome: case report. Neurosurgery 1995;37:1006-8.
-
(1995)
Neurosurgery
, vol.37
, pp. 1006-1008
-
-
Razack, N.1
Page, L.2
-
29
-
-
0030986873
-
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome
-
Bamshad M, Lin RC, Law DJ, et al. Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat Genet 1997;16:311-15.
-
(1997)
Nat Genet
, vol.16
, pp. 311-315
-
-
Bamshad, M.1
Lin, R.C.2
Law, D.J.3
-
30
-
-
0030636780
-
Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome
-
Basson CT, Bachinsky DR, Lin RC, et al. Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet 1997;15:30-5.
-
(1997)
Nat Genet
, vol.15
, pp. 30-35
-
-
Basson, C.T.1
Bachinsky, D.R.2
Lin, R.C.3
-
31
-
-
0030589712
-
Tbx6, a mouse T-box gene implicated in paraxial mesoderm formation at gastrulation
-
Chapman DL, Agulnik I, Hancock S, Silver LM, Papaioannou VE. Tbx6, a mouse T-box gene implicated in paraxial mesoderm formation at gastrulation. Dev Biol 1996;180: 534-42.
-
(1996)
Dev Biol
, vol.180
, pp. 534-542
-
-
Chapman, D.L.1
Agulnik, I.2
Hancock, S.3
Silver, L.M.4
Papaioannou, V.E.5
-
32
-
-
0039706410
-
Cystallographic structure of the T domain - DNA complex of the Brachyury transcription factor
-
Müller CW, Herrman BG. Cystallographic structure of the T domain - DNA complex of the Brachyury transcription factor. Nature 1997;389:884-8.
-
(1997)
Nature
, vol.389
, pp. 884-888
-
-
Müller, C.W.1
Herrman, B.G.2
-
33
-
-
0030918366
-
The T transcription factor functions as a dimer and exhibits a common polymorphism Gly-177-Asp in the conserved DNA-binding domain
-
Papapetrou C, Edwards YH, Sowden JC. The T transcription factor functions as a dimer and exhibits a common polymorphism Gly-177-Asp in the conserved DNA-binding domain. FEBS Letts 1997;409:201-6.
-
(1997)
FEBS Letts
, vol.409
, pp. 201-206
-
-
Papapetrou, C.1
Edwards, Y.H.2
Sowden, J.C.3
-
34
-
-
0029831088
-
Inhibition of Xbra transcription activation causes defects in mesodermal patterning and reveals autoregulation of Xbra in dorsal mesoderm
-
Conlon FL, Sedgwick SG, Weston KM, Smith JC. Inhibition of Xbra transcription activation causes defects in mesodermal patterning and reveals autoregulation of Xbra in dorsal mesoderm. Development 1996;122:2427-35.
-
(1996)
Development
, vol.122
, pp. 2427-2435
-
-
Conlon, F.L.1
Sedgwick, S.G.2
Weston, K.M.3
Smith, J.C.4
-
36
-
-
9244225669
-
Genetic mapping of the human homologue (T) of mouse T (Brachyury) and a search for allele association between human T and spina bifida
-
Morrison K, Papapetrou C, Attwood J, et al. Genetic mapping of the human homologue (T) of mouse T (Brachyury) and a search for allele association between human T and spina bifida. Hum Mol Genet 1996;5:669-74.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 669-674
-
-
Morrison, K.1
Papapetrou, C.2
Attwood, J.3
-
37
-
-
0028252381
-
-
Bock G, Marsh J, eds. Chichester: John Wiley
-
Shurtleff DB, Luthy DA, Nyberg DA, Bebedetti TJ, Mack LA. In: Bock G, Marsh J, eds. Ciba Foundation Symposium 181 - neural tube defects. Chichester: John Wiley, 1994:270-86.
-
(1994)
Ciba Foundation Symposium 181 - Neural Tube Defects
, pp. 270-286
-
-
Shurtleff, D.B.1
Luthy, D.A.2
Nyberg, D.A.3
Bebedetti, T.J.4
Mack, L.A.5
-
38
-
-
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;56:177-87.
-
(1997)
Teratology
, vol.56
, pp. 177-187
-
-
Harris, M.J.1
Juriloff, D.M.2
-
39
-
-
0028915875
-
DNA polymorphisms in the lactase gene: Linkage disequilibrium across the 70 kb region
-
Harvey CB, Pratt WS, Islam I, Whitehouse DB, Swallow DM. DNA polymorphisms in the lactase gene: linkage disequilibrium across the 70 kb region. Eur J Hum Genet 1995;3:27-41.
-
(1995)
Eur J Hum Genet
, vol.3
, pp. 27-41
-
-
Harvey, C.B.1
Pratt, W.S.2
Islam, I.3
Whitehouse, D.B.4
Swallow, D.M.5
-
40
-
-
84920314176
-
The HB9 gene is a locus for dominantly inherited sacral agenesis
-
Ross AJ, Ruiz-Perez V, Wang Y, et al. The HB9 gene is a locus for dominantly inherited sacral agenesis. Nat Genet 1998;20.
-
(1998)
Nat Genet
, pp. 20
-
-
Ross, A.J.1
Ruiz-Perez, V.2
Wang, Y.3
|