-
1
-
-
0020458973
-
The natural history of congenital scoliosis. A study of two hundred and fifty-one patients
-
McMaster MJ, Ohtsuka K. The natural history of congenital scoliosis. A study of two hundred and fifty-one patients. J Bone Joint Surg Am 1982;64:1128-47
-
(1982)
J Bone Joint Surg Am
, vol.64
, pp. 1128-1147
-
-
McMaster, M.J.1
Ohtsuka, K.2
-
2
-
-
0032832713
-
Natural history of congenital kyphosis and kyphoscoliosis. A study of one hundred and twelve patients
-
McMaster MJ, Singh H. Natural history of congenital kyphosis and kyphoscoliosis. A study of one hundred and twelve patients. J Bone Joint Surg Am 1999;81:1367-83
-
(1999)
J Bone Joint Surg Am
, vol.81
, pp. 1367-1383
-
-
McMaster, M.J.1
Singh, H.2
-
3
-
-
0000732804
-
The incidence of scoliosis in the state of Delaware: A study of 50,000 minifilms of the chest made during a survey for tuberculosis
-
Shands AR Jr, Eisberg HB. The incidence of scoliosis in the state of Delaware: a study of 50,000 minifilms of the chest made during a survey for tuberculosis. J Bone Joint Surg Am 1955;37-A:1243-9
-
(1955)
J Bone Joint Surg Am
, vol.37-A
, pp. 1243-1249
-
-
Shands Jr, A.R.1
Eisberg, H.B.2
-
4
-
-
0016758619
-
Congenital vertebral anomalies: Aetiology and relationship to spina bifida cystica
-
Wynne-Davies R. Congenital vertebral anomalies: aetiology and relationship to spina bifida cystica. J Med Genet 1975;12:280-8
-
(1975)
J Med Genet
, vol.12
, pp. 280-288
-
-
Wynne-Davies, R.1
-
6
-
-
0027258765
-
Control of dorsoventral patterning of somitic derivatives by notochord and floor plate
-
Pourquié O, Coltey M, Teillet MA, et al. Control of dorsoventral patterning of somitic derivatives by notochord and floor plate. Proc Natl Acad Sci USA 1993;90:5242-6
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 5242-5246
-
-
Pourquié, O.1
Coltey, M.2
Teillet, M.A.3
-
7
-
-
0029041177
-
Long-range sclerotome induction by sonic hedgehog: Direct role of the arnino-terminal cleavage product and modulation by the cyclic AMP signaling pathway
-
Fan CM, Porter JA, Chiang C, et al. Long-range sclerotome induction by sonic hedgehog: direct role of the arnino-terminal cleavage product and modulation by the cyclic AMP signaling pathway. Cell 1995;81:457-65
-
(1995)
Cell
, vol.81
, pp. 457-465
-
-
Fan, C.M.1
Porter, J.A.2
Chiang, C.3
-
9
-
-
42349117524
-
Segmental patterning of the vertebrate embryonic axis
-
Dequéant ML, Pourquié O. Segmental patterning of the vertebrate embryonic axis. Nat Rev Genet 2008;9:370-82
-
(2008)
Nat Rev Genet
, vol.9
, pp. 370-382
-
-
Dequéant, M.L.1
Pourquié, O.2
-
10
-
-
0032768973
-
Segmental costovertebral malformations: Association with neural tube defects. Report of 3 cases and review of the literature
-
Duru S, Ceylan S, Güvenç BH. Segmental costovertebral malformations: association with neural tube defects. Report of 3 cases and review of the literature. Pediatr Neurosurg 1999;30:272-7
-
(1999)
Pediatr Neurosurg
, vol.30
, pp. 272-277
-
-
Duru, S.1
Ceylan, S.2
Güvenç, B.H.3
-
11
-
-
41849147550
-
Spondylocostal dysostosis associated with diaphragmatic hernia and neural tube defects
-
Cetinkaya M, Ozkan H, Köksal N, et al. Spondylocostal dysostosis associated with diaphragmatic hernia and neural tube defects. Clin Dysmorphol 2008;17:151-4
-
(2008)
Clin Dysmorphol
, vol.17
, pp. 151-154
-
-
Cetinkaya, M.1
Ozkan, H.2
Köksal, N.3
-
12
-
-
33644911179
-
A thoracic myelomeningocele in a patient with spondylocostal dysostosis. Case report
-
Yi S, Yoon DH, Shin HC, et al. A thoracic myelomeningocele in a patient with spondylocostal dysostosis. Case report. J Neurosurg 2006;104(1 Suppl):37-40
-
(2006)
J Neurosurg
, vol.104
, Issue.1 SUPPL.
, pp. 37-40
-
-
Yi, S.1
Yoon, D.H.2
Shin, H.C.3
-
13
-
-
0142155270
-
Association of spondylocostal dysostosis and type I split cord malformation
-
Etus V, Ceylan S, Ceylan S. Association of spondylocostal dysostosis and type I split cord malformation. Neurol Sci 2003;24:134-7
-
(2003)
Neurol Sci
, vol.24
, pp. 134-137
-
-
Etus, V.1
Ceylan, S.2
Ceylan, S.3
-
14
-
-
0033362086
-
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3
-
Turnpenny PD, Bulman MP Frayling TM, et al. A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. Am J Hum Genet 1999;65:175-82
-
(1999)
Am J Hum Genet
, vol.65
, pp. 175-182
-
-
Turnpenny, P.D.1
Bulman, M.P.2
Frayling, T.M.3
-
15
-
-
0026098704
-
Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis
-
Turnpenny PD, Thwaites RJ, Boulos FN. Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis. J Med Genet 1991;28:27-33
-
(1991)
J Med Genet
, vol.28
, pp. 27-33
-
-
Turnpenny, P.D.1
Thwaites, R.J.2
Boulos, F.N.3
-
16
-
-
0001486954
-
Genetical studies on the skeleton of the mouse XXIX Pudgy
-
Gruneberg H. Genetical studies on the skeleton of the mouse XXIX Pudgy. Genet Res 1961;2:384-93
-
(1961)
Genet Res
, vol.2
, pp. 384-393
-
-
Gruneberg, H.1
-
17
-
-
0036332950
-
Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm
-
Dunwoodie SL, Clements M, Sparrow DB, et al. Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm. Development 2002;129:1795-806
-
(2002)
Development
, vol.129
, pp. 1795-1806
-
-
Dunwoodie, S.L.1
Clements, M.2
Sparrow, D.B.3
-
18
-
-
17344368196
-
The mouse pudgy mutation disrupts Delta homologue Dll3 and initiation of early sornite boundaries
-
Kusumi K, Sun ES, Kerrebrock AW, et al. The mouse pudgy mutation disrupts Delta homologue Dll3 and initiation of early sornite boundaries. Nat Genet 1998;19:274-8
-
(1998)
Nat Genet
, vol.19
, pp. 274-278
-
-
Kusumi, K.1
Sun, E.S.2
Kerrebrock, A.W.3
-
19
-
-
0033583078
-
Synteny-defined candidate genes for congenital and idiopathic scoliosis
-
Giampietro PF, Raggio CL, Blank RD. Synteny-defined candidate genes for congenital and idiopathic scoliosis. Am J Med Genet 1999;83:164-77
-
(1999)
Am J Med Genet
, vol.83
, pp. 164-177
-
-
Giampietro, P.F.1
Raggio, C.L.2
Blank, R.D.3
-
20
-
-
0034028904
-
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis
-
Bulman MP, Kusumi K, Frayling TM, et al. Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet 2000;4:438-41
-
(2000)
Nat Genet
, vol.4
, pp. 438-441
-
-
Bulman, M.P.1
Kusumi, K.2
Frayling, T.M.3
-
21
-
-
0037562916
-
Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis
-
Turnpenny PD, Whittock N, Duncan J, et al. Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis. J Med Genet 2003;40:333-9
-
(2003)
J Med Genet
, vol.40
, pp. 333-339
-
-
Turnpenny, P.D.1
Whittock, N.2
Duncan, J.3
-
22
-
-
2442713782
-
Mutated MESP2 causes spondylocostal dysostosis in humans
-
Whittock NV, Sparrow DB, Wouters MA, et al. Mutated MESP2 causes spondylocostal dysostosis in humans. Am J Hum Genet 2004;74:1249-54
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1249-1254
-
-
Whittock, N.V.1
Sparrow, D.B.2
Wouters, M.A.3
-
23
-
-
33644866845
-
Tbx6-mediated Notch signaling controls somite-specific Mesp2 expression
-
Yasuhiko Y, Haraguchi S, Kitajima S, et al. Tbx6-mediated Notch signaling controls somite-specific Mesp2 expression. Proc Natl Acad Sci USA 2006;103:3651-6
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 3651-3656
-
-
Yasuhiko, Y.1
Haraguchi, S.2
Kitajima, S.3
-
24
-
-
0030850751
-
Mesp2: A novel mouse gene expressed in the presegmented mesoderm and essential for segmentation initiation
-
Saga Y, Hata N, Koseki H, et al. Mesp2: a novel mouse gene expressed in the presegmented mesoderm and essential for segmentation initiation. Genes Dev 1997;11:1827-39
-
(1997)
Genes Dev
, vol.11
, pp. 1827-1839
-
-
Saga, Y.1
Hata, N.2
Koseki, H.3
-
25
-
-
0242593940
-
Glycosyltransferase activity of Fringe modulates Notch-Delta interactions
-
Brückner K, Perez L, Clausen H, et al. Glycosyltransferase activity of Fringe modulates Notch-Delta interactions. Nature 2000;406:411-5
-
(2000)
Nature
, vol.406
, pp. 411-415
-
-
Brückner, K.1
Perez, L.2
Clausen, H.3
-
26
-
-
0034737738
-
Mammalian Notch 1 is modified with two unusual forms of O-linked glycosylation found on epidermal growth factor-like modules
-
Moloney DJ, Shair LH, Lu FM, et al. Mammalian Notch 1 is modified with two unusual forms of O-linked glycosylation found on epidermal growth factor-like modules. J Biol Chem 2000;275:9604-11
-
(2000)
J Biol Chem
, vol.275
, pp. 9604-9611
-
-
Moloney, D.J.1
Shair, L.H.2
Lu, F.M.3
-
27
-
-
29244458644
-
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype
-
Sparrow DB, Chapman G, Wouters MA, et al. Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Am J Hum Genet 2006;78:28-37
-
(2006)
Am J Hum Genet
, vol.78
, pp. 28-37
-
-
Sparrow, D.B.1
Chapman, G.2
Wouters, M.A.3
-
28
-
-
0037637608
-
Molecular genetic analysis of the glycosyltransferase Fringe in Drosophila
-
Correia T, Papayannopoulos V, Panin V, et al. Molecular genetic analysis of the glycosyltransferase Fringe in Drosophila. Proc Natl Acad Sci USA 2003;100:6404-9
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 6404-6409
-
-
Correia, T.1
Papayannopoulos, V.2
Panin, V.3
-
29
-
-
0001741191
-
Hereditary malformation of the vertebral bodies
-
Jarcho S, Levin PM. Hereditary malformation of the vertebral bodies. Bull Johns Hopkins Hosp 1938;62:216-26
-
(1938)
Bull Johns Hopkins Hosp
, vol.62
, pp. 216-226
-
-
Jarcho, S.1
Levin, P.M.2
-
30
-
-
0345687430
-
Controversies surrounding Jarcho-Levin syndrome
-
Cornier AS, Ramirez N, Carlo S, et al. Controversies surrounding Jarcho-Levin syndrome. Curr Opin Pediatr 2003;15:614-20
-
(2003)
Curr Opin Pediatr
, vol.15
, pp. 614-620
-
-
Cornier, A.S.1
Ramirez, N.2
Carlo, S.3
-
31
-
-
0042322955
-
Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: Report of two Caucasian siblings and literature review
-
Bannykh SI, Emery SC, Gerber JK, et al. Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review. Am J Med Genet A 2003;120A:241-6
-
(2003)
Am J Med Genet A
, vol.120 A
, pp. 241-246
-
-
Bannykh, S.I.1
Emery, S.C.2
Gerber, J.K.3
-
32
-
-
0028029093
-
Segmentation anomalies of the vertebras and ribs: A developmental field defect: epidemiologic evidence
-
Martínez-Frías ML, Urioste M. Segmentation anomalies of the vertebras and ribs: a developmental field defect: epidemiologic evidence. Am J Med Genet 1994;49:36-44
-
(1994)
Am J Med Genet
, vol.49
, pp. 36-44
-
-
Martínez-Frías, M.L.1
Urioste, M.2
-
33
-
-
0030064549
-
Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature
-
Mortier GR, Lachman RS, Bocian M, et al. Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature. Am J Med Genet 1996;61:310-9
-
(1996)
Am J Med Genet
, vol.61
, pp. 310-319
-
-
Mortier, G.R.1
Lachman, R.S.2
Bocian, M.3
-
34
-
-
0038320970
-
Jarcho-Levin syndrome associated with a complex congenital heart anomaly
-
Hatakeyama K, Fuse S, Tomita H, et al. Jarcho-Levin syndrome associated with a complex congenital heart anomaly. Pediatr Cardiol 2003;24:86-8
-
(2003)
Pediatr Cardiol
, vol.24
, pp. 86-88
-
-
Hatakeyama, K.1
Fuse, S.2
Tomita, H.3
-
35
-
-
0016304201
-
Occipito-facial-cervico-thoracic-abdomino-digital dysplasia; Jarcho-Levin syndrome of vertebral anomalies. Report of six cases and review of the literature
-
Pérez-Comas A, Garcia-Castro JM. Occipito-facial-cervico-thoracic-abdomino-digital dysplasia; Jarcho-Levin syndrome of vertebral anomalies. Report of six cases and review of the literature. J Pediatr 1974;85:388-91
-
(1974)
J Pediatr
, vol.85
, pp. 388-391
-
-
Pérez-Comas, A.1
Garcia-Castro, J.M.2
-
37
-
-
0017952071
-
Spondylothoracic dysostosis: Report of two cases and review of the literature
-
Solomon L, Jimenez RB, Reiner L. Spondylothoracic dysostosis: report of two cases and review of the literature. Arch Pathol Lab Med 1978;102:201-5
-
(1978)
Arch Pathol Lab Med
, vol.102
, pp. 201-205
-
-
Solomon, L.1
Jimenez, R.B.2
Reiner, L.3
-
38
-
-
4444283260
-
Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: A series of 27 new cases
-
Cornier AS, Ramírez N, Arroyo S, et al. Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: a series of 27 new cases. Am J Med Genet A 2004;128A:120-6
-
(2004)
Am J Med Genet A
, vol.128 A
, pp. 120-126
-
-
Cornier, A.S.1
Ramírez, N.2
Arroyo, S.3
-
39
-
-
0016439420
-
Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur
-
Alagille D, Odièvre M, Gautier M, et al. Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur. J Pediatr 1975;86:63-71
-
(1975)
J Pediatr
, vol.86
, pp. 63-71
-
-
Alagille, D.1
Odièvre, M.2
Gautier, M.3
-
40
-
-
0033017848
-
Features of Alagille syndrome in 92 patients: Frequency and relation to prognosis
-
Emerick KM, Rand EB, Goldmuntz E, et al. Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology 1999;29:822-9
-
(1999)
Hepatology
, vol.29
, pp. 822-829
-
-
Emerick, K.M.1
Rand, E.B.2
Goldmuntz, E.3
-
41
-
-
0036808212
-
Facial features in Alagille syndrome: Specific or cholestasis facies?
-
Kamath BM, Loomes KM, Oakey RJ, et al. Facial features in Alagille syndrome: specific or cholestasis facies? Am J Med Genet 2002;112:163-70
-
(2002)
Am J Med Genet
, vol.112
, pp. 163-170
-
-
Kamath, B.M.1
Loomes, K.M.2
Oakey, R.J.3
-
43
-
-
0035261057
-
Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients
-
Colliton RP, Bason L, Lu FM, et al. Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients. Hum Mutat 2001;17:151-2
-
(2001)
Hum Mutat
, vol.17
, pp. 151-152
-
-
Colliton, R.P.1
Bason, L.2
Lu, F.M.3
-
44
-
-
33745232796
-
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway
-
McDaniell R, Warthen DM, Sanchez-Lara PA, et al. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet 2006;79:169-73
-
(2006)
Am J Hum Genet
, vol.79
, pp. 169-173
-
-
McDaniell, R.1
Warthen, D.M.2
Sanchez-Lara, P.A.3
-
45
-
-
0018602967
-
Posterior spinal fusion in scoliosis: Indications, techniques, and results
-
Winter R. Posterior spinal fusion in scoliosis: indications, techniques, and results. Orthop Clin North Am 1979;10:787-800
-
(1979)
Orthop Clin North Am
, vol.10
, pp. 787-800
-
-
Winter, R.1
-
46
-
-
0019179943
-
Embryogenesis and prenatal development of congenital vertebral anomalies and their classification
-
Tsou PM, Yau A, Hodgson AR. Embryogenesis and prenatal development of congenital vertebral anomalies and their classification. Clin Orthop Relat Res 1980;(152):211-31
-
(1980)
Clin Orthop Relat Res
, vol.152
, pp. 211-231
-
-
Tsou, P.M.1
Yau, A.2
Hodgson, A.R.3
-
47
-
-
0016712132
-
Growth of human intervertebral discs and vertebral bodies
-
Taylor JR. Growth of human intervertebral discs and vertebral bodies. J Anat 1975;120:49-68
-
(1975)
J Anat
, vol.120
, pp. 49-68
-
-
Taylor, J.R.1
-
48
-
-
0037362812
-
The characteristics of thoracic insufficiency syndrome associated with fused ribs and congenital scoliosis
-
Campbell RM Jr, Smith MD, Mayes TC, et al. The characteristics of thoracic insufficiency syndrome associated with fused ribs and congenital scoliosis. J Bone Joint Surg Am 2003;85-A(3):399-408
-
(2003)
J Bone Joint Surg Am
, vol.85-A
, Issue.3
, pp. 399-408
-
-
Campbell Jr, R.M.1
Smith, M.D.2
Mayes, T.C.3
-
49
-
-
0024394137
-
Spinal deformity in patients born with oesophageal atresia and tracheo-oesophageal fistula
-
Chetcuti P, Dickens DR, Phelan PD. Spinal deformity in patients born with oesophageal atresia and tracheo-oesophageal fistula. Arch Dis Child 1989;64:1427-30
-
(1989)
Arch Dis Child
, vol.64
, pp. 1427-1430
-
-
Chetcuti, P.1
Dickens, D.R.2
Phelan, P.D.3
-
50
-
-
0017729671
-
Screening for spinal deformities in Minnesota schools
-
Lonstein JE. Screening for spinal deformities in Minnesota schools. Clin Orthop Relat Res 1977;(126):33-42
-
(1977)
Clin Orthop Relat Res
, vol.126
, pp. 33-42
-
-
Lonstein, J.E.1
-
52
-
-
17144382468
-
Molecular analysis of congenital scoliosis: A candidate gene approach
-
Maisenbacher MK, Han JS, O'Brien ML, et al. Molecular analysis of congenital scoliosis: a candidate gene approach. Hum Genet 2005;116:416-9
-
(2005)
Hum Genet
, vol.116
, pp. 416-419
-
-
Maisenbacher, M.K.1
Han, J.S.2
O'Brien, M.L.3
-
53
-
-
0017127130
-
A glossary of scoliosis terms
-
Scoliosis Research Society
-
Scoliosis Research Society. A glossary of scoliosis terms. Spine 1976;1:57-8
-
(1976)
Spine
, vol.1
, pp. 57-58
-
-
-
54
-
-
0036338716
-
Idiopathic scoliosis in families of children with congenital scoliosis
-
Purkiss SB, Driscoll B, Cole WG, et al. Idiopathic scoliosis in families of children with congenital scoliosis. Clin Orthop Relat Res 2002;(401):27-31
-
(2002)
Clin Orthop Relat Res
, vol.401
, pp. 27-31
-
-
Purkiss, S.B.1
Driscoll, B.2
Cole, W.G.3
-
55
-
-
34247584973
-
CHD7 Gene polymorphisms are associated with susceptibility to idiopathic scoliosis
-
Gao X, Gordon D, Zhang D, et al. CHD7 Gene polymorphisms are associated with susceptibility to idiopathic scoliosis. Am J Hum Genet 2007;80:957-65
-
(2007)
Am J Hum Genet
, vol.80
, pp. 957-965
-
-
Gao, X.1
Gordon, D.2
Zhang, D.3
-
56
-
-
14344257057
-
Scoliosis in CHARGE: A prospective survey and two case reports
-
Doyle C, Blake K. Scoliosis in CHARGE: a prospective survey and two case reports. Am J Med Genet A 2005;133A:340-3
-
(2005)
Am J Med Genet A
, vol.133 A
, pp. 340-343
-
-
Doyle, C.1
Blake, K.2
-
57
-
-
58149149565
-
Deformity of the shoulder girdle
-
Hutchinson J. Deformity of the shoulder girdle. BMJ 1894;1:634-5
-
(1894)
BMJ
, vol.1
, pp. 634-635
-
-
Hutchinson, J.1
-
58
-
-
0001414075
-
Un cas d'absence des vertèbres cervicales avec cage thoracique remontant jusqu'à la base du crâne (cage thoradque cervicale).
-
Klippel M, Feil A. Un cas d'absence des vertèbres cervicales avec cage thoracique remontant jusqu'à la base du crâne (cage thoradque cervicale). N iconog de la salpêtrière 1912; 9:223-50
-
(1912)
N iconog de la salpêtrière
, vol.9
, pp. 223-250
-
-
Klippel, M.1
Feil, A.2
-
59
-
-
0031762587
-
Heterogeneity in Klippel-Feil syndrome: A new classification
-
Clarke RA, Catalan G, Diwan AD, et al. Heterogeneity in Klippel-Feil syndrome: a new classification. Pediatr Radiol 1998;28:967-74
-
(1998)
Pediatr Radiol
, vol.28
, pp. 967-974
-
-
Clarke, R.A.1
Catalan, G.2
Diwan, A.D.3
-
60
-
-
0005732089
-
The cervico-oculo-acusticus syndrome
-
Vinken PJ, Bruyn GW, editors, Amsterdam, NY: Elsevier/ North-Holland Biomedical;
-
Wildervanck LS. The cervico-oculo-acusticus syndrome. In: Vinken PJ, Bruyn GW, editors, Handbook of clinical neurology: congenital malformations of the spine and spinal cord. Amsterdam, NY: Elsevier/ North-Holland Biomedical; 1978;32:123-30
-
(1978)
Handbook of clinical neurology: Congenital malformations of the spine and spinal cord
, vol.32
, pp. 123-130
-
-
Wildervanck, L.S.1
-
61
-
-
0028962137
-
Undulated phenotypes suggest a role of Pax-1 for the development of vertebral and extravertebral structures
-
Dietrich S, Gruss P. Undulated phenotypes suggest a role of Pax-1 for the development of vertebral and extravertebral structures. Dev Biol 1995;167:529-48
-
(1995)
Dev Biol
, vol.167
, pp. 529-548
-
-
Dietrich, S.1
Gruss, P.2
-
62
-
-
0038377914
-
Mutations in PAX1 may be associated with Klippel-Feil syndrome
-
McGaughran JM, Oates A, Donnai D, et al. Mutations in PAX1 may be associated with Klippel-Feil syndrome. Eur J Hum Genet 2003;11:468-74
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 468-474
-
-
McGaughran, J.M.1
Oates, A.2
Donnai, D.3
-
63
-
-
49149100486
-
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome
-
Tassabehji M, Fang ZM, Hilton EN, et al. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Hum Mutat 2008;29:1017-27
-
(2008)
Hum Mutat
, vol.29
, pp. 1017-1027
-
-
Tassabehji, M.1
Fang, Z.M.2
Hilton, E.N.3
-
64
-
-
52949153250
-
A missense T(Brachyury) mutation contributes to vertebral malformations
-
Epub ahead of print
-
Ghebranious N, Blank RD, Raggio CL, et al. A missense T(Brachyury) mutation contributes to vertebral malformations. J Bone Miner Res 2008 [Epub ahead of print]
-
(2008)
J Bone Miner Res
-
-
Ghebranious, N.1
Blank, R.D.2
Raggio, C.L.3
-
65
-
-
33744825975
-
Evaluation of SLC35A3 as a candidate gene for human vertebral malformations
-
Ghebranious N, Burmester JK, Glurich I, et al. Evaluation of SLC35A3 as a candidate gene for human vertebral malformations. Am J Med Genet A 2006;140:1346-8
-
(2006)
Am J Med Genet A
, vol.140
, pp. 1346-1348
-
-
Ghebranious, N.1
Burmester, J.K.2
Glurich, I.3
-
66
-
-
35948949472
-
Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations
-
Ghebranious N, Raggio CL, Blank RD, et al. Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations. Scoliosis 2007;2:13
-
(2007)
Scoliosis
, vol.2
, pp. 13
-
-
Ghebranious, N.1
Raggio, C.L.2
Blank, R.D.3
-
68
-
-
27544451393
-
An analysis of PAX1 in the development of vertebral malformations
-
Giampietro PF, Raggio CL, Reynolds CE, et al. An analysis of PAX1 in the development of vertebral malformations. Clin Genet 2005;68:448-53
-
(2005)
Clin Genet
, vol.68
, pp. 448-453
-
-
Giampietro, P.F.1
Raggio, C.L.2
Reynolds, C.E.3
-
69
-
-
0037344080
-
Wnt3a plays a major role in the segmentation clock controlling somitogenesis
-
Aulehla A, Wehrle C, Brand-Saberi B, et al. Wnt3a plays a major role in the segmentation clock controlling somitogenesis. Dev Cell 2003;4:395-406
-
(2003)
Dev Cell
, vol.4
, pp. 395-406
-
-
Aulehla, A.1
Wehrle, C.2
Brand-Saberi, B.3
-
70
-
-
30044437364
-
A missense mutation in the bovine SLC35A3. gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation
-
Thomsen B, Horn P, Panitz F, et al. A missense mutation in the bovine SLC35A3. gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation. Genome Res 2006;16:97-105
-
(2006)
Genome Res
, vol.16
, pp. 97-105
-
-
Thomsen, B.1
Horn, P.2
Panitz, F.3
-
71
-
-
0027977118
-
Immunohistochemical analysis of the Brachyury protein in wild-type and mutant mouse embryos
-
Kispert A, Herrmann BG. Immunohistochemical analysis of the Brachyury protein in wild-type and mutant mouse embryos. Dev Biol 1994;161:179-93
-
(1994)
Dev Biol
, vol.161
, pp. 179-193
-
-
Kispert, A.1
Herrmann, B.G.2
-
72
-
-
0036895686
-
The mouse rib-vertebrae mutation is a hypomorphic Tbx6 allele
-
Watabe-Rudolph M, Schlautmann N, Papaioannou V, et al. The mouse rib-vertebrae mutation is a hypomorphic Tbx6 allele. Mech Dev 2002;119:251-6
-
(2002)
Mech Dev
, vol.119
, pp. 251-256
-
-
Watabe-Rudolph, M.1
Schlautmann, N.2
Papaioannou, V.3
-
73
-
-
0029165111
-
The T protein encoded by Brachyury is a tissue-specific transcription factor
-
Kispert A, Koschorz B, Herrmann 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
Herrmann, B.G.3
-
74
-
-
0033024028
-
A genetic study of the human T gene and its exclusion as a major candidate gene for sacral agenesis with anorectal atresia
-
Papapetrou C, Drummond F, Reardon W, et al. A genetic study of the human T gene and its exclusion as a major candidate gene for sacral agenesis with anorectal atresia. J Med Genet 1999;36:208-13
-
(1999)
J Med Genet
, vol.36
, pp. 208-213
-
-
Papapetrou, C.1
Drummond, F.2
Reardon, W.3
-
75
-
-
0015043748
-
Mutation and cancer: Statistical study of retinoblastoma
-
Knudson AG Jr. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971;68:820-3
-
(1971)
Proc Natl Acad Sci USA
, vol.68
, pp. 820-823
-
-
Knudson Jr., A.G.1
-
76
-
-
34047237073
-
Hsp90 selectively modulates phenotype in vertebrate development
-
Yeyati PL, Bancewicz RM, Maule J, et al. Hsp90 selectively modulates phenotype in vertebrate development. PLoS Genet 2007;3:e43
-
(2007)
PLoS Genet
, vol.3
-
-
Yeyati, P.L.1
Bancewicz, R.M.2
Maule, J.3
-
77
-
-
0019976854
-
Cervical spine anomalies in fetal alcohol syndrome
-
Tredwell SJ, Smith DF, Macleod PJ, et al. Cervical spine anomalies in fetal alcohol syndrome. Spine 1982;7:331-4
-
(1982)
Spine
, vol.7
, pp. 331-334
-
-
Tredwell, S.J.1
Smith, D.F.2
Macleod, P.J.3
-
78
-
-
0021176316
-
Valproic acid and congenital malformations. A case report
-
Bantz EW. Valproic acid and congenital malformations. A case report. Clin Pediatr (Phila) 1984;23:352-3
-
(1984)
Clin Pediatr (Phila)
, vol.23
, pp. 352-353
-
-
Bantz, E.W.1
-
79
-
-
0022684480
-
Teratogenic potential of valproic acid
-
Hanold KC. Teratogenic potential of valproic acid. J Obstet Gynecol Neonatal Nurs 1986;15:111-6
-
(1986)
J Obstet Gynecol Neonatal Nurs
, vol.15
, pp. 111-116
-
-
Hanold, K.C.1
-
80
-
-
0022863986
-
Hyperthermia as a teratogen: A review of experimental studies and their clinical significance
-
Edwards MJ. Hyperthermia as a teratogen: a review of experimental studies and their clinical significance. Teratog Carcinog Mutagen 1986;6:563-82
-
(1986)
Teratog Carcinog Mutagen
, vol.6
, pp. 563-582
-
-
Edwards, M.J.1
-
81
-
-
0033964370
-
Oculoauriculovertebral abnormalities in children of diabetic mothers
-
Ewart-Toland A, Yankowitz J, Winder A, et al. Oculoauriculovertebral abnormalities in children of diabetic mothers. Am J Med Genet 2000;90:303-9
-
(2000)
Am J Med Genet
, vol.90
, pp. 303-309
-
-
Ewart-Toland, A.1
Yankowitz, J.2
Winder, A.3
-
82
-
-
0347994902
-
Glucose transporter-1-deficicnt mice exhibit impaired development and deformities that are similar to diabetic embryopathy
-
Heilig CW, Saunders T, Brosius FC 3rd, et al. Glucose transporter-1-deficicnt mice exhibit impaired development and deformities that are similar to diabetic embryopathy. Proc Natl Acad Sci USA 2003;100:15613-8
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 15613-15618
-
-
Heilig, C.W.1
Saunders, T.2
Brosius 3rd, F.C.3
-
83
-
-
0031657080
-
Drug and environmental factors associated with adverse pregnancy outcomes. Part II. Improvement with folic acid
-
Lewis DP, Van Dyke DC, Stumbo PJ, et al. Drug and environmental factors associated with adverse pregnancy outcomes. Part II. Improvement with folic acid. Ann Pharmacother 1998;32:947-61
-
(1998)
Ann Pharmacother
, vol.32
, pp. 947-961
-
-
Lewis, D.P.1
Van Dyke, D.C.2
Stumbo, P.J.3
-
84
-
-
0035185626
-
Stage-specific skeletal and visceral defects of the I(Kr)-blocker almokalant: Further evidence for teratogenicity via a hypoxia-related mechanism
-
Sköld AC, Wellfelt K, Danielsson BR. Stage-specific skeletal and visceral defects of the I(Kr)-blocker almokalant: further evidence for teratogenicity via a hypoxia-related mechanism. Teratology 2001;64:292-300
-
(2001)
Teratology
, vol.64
, pp. 292-300
-
-
Sköld, A.C.1
Wellfelt, K.2
Danielsson, B.R.3
-
86
-
-
16244363907
-
Defects in cervical vertebrae in boric acid-exposed rat embryos are associated with anterior shifts of hox gene expression domains. Birth Defects Res A Clin Mol
-
Wéry N, Narotsky MG, Pacico N, et al. Defects in cervical vertebrae in boric acid-exposed rat embryos are associated with anterior shifts of hox gene expression domains. Birth Defects Res A Clin Mol Teratol 2003;67:59-67
-
(2003)
Teratol
, vol.67
, pp. 59-67
-
-
Wéry, N.1
Narotsky, M.G.2
Pacico, N.3
-
88
-
-
0018366319
-
Fetal skeletal malformations associated with moderate zinc deficiency during pregnancy
-
Hickory W, Nanda R, Catalanotto FA. Fetal skeletal malformations associated with moderate zinc deficiency during pregnancy. J Nutr 1979;109:883-91
-
(1979)
J Nutr
, vol.109
, pp. 883-891
-
-
Hickory, W.1
Nanda, R.2
Catalanotto, F.A.3
-
89
-
-
19444384152
-
Teratogenicity and developmental toxicity of chlorpyrifos. Maternal exposure during organogenesis in mice
-
Tian Y, Ishikawa H, Yamaguchi T, et al. Teratogenicity and developmental toxicity of chlorpyrifos. Maternal exposure during organogenesis in mice. Reprod Toxicol 2005;20:267-70
-
(2005)
Reprod Toxicol
, vol.20
, pp. 267-270
-
-
Tian, Y.1
Ishikawa, H.2
Yamaguchi, T.3
-
90
-
-
0023851219
-
Sublethal effects of tetrachloro-1,2-benzoquinone - a component in bleachery effluents from pulp mills - on vertebral quality and physiological parameters in fourhorn sculpin
-
Bengtsson BE, Larsson A, Bengtsson A, et al. Sublethal effects of tetrachloro-1,2-benzoquinone - a component in bleachery effluents from pulp mills - on vertebral quality and physiological parameters in fourhorn sculpin. Ecotoxicol Environ Saf 1988;15:62-71
-
(1988)
Ecotoxicol Environ Saf
, vol.15
, pp. 62-71
-
-
Bengtsson, B.E.1
Larsson, A.2
Bengtsson, A.3
-
91
-
-
17844367590
-
Anomalies of vertebrae and ribs: Jarcho Levin syndrome. Description of a case and literature review
-
Vázquez-López ME, López-Conde MI, Somoza-Rubio C, et al. Anomalies of vertebrae and ribs: Jarcho Levin syndrome. Description of a case and literature review. Joint Bone Spine 2005; 72:275-7
-
(2005)
Joint Bone Spine
, vol.72
, pp. 275-277
-
-
Vázquez-López, M.E.1
López-Conde, M.I.2
Somoza-Rubio, C.3
-
92
-
-
0037684769
-
Microarray analysis of somitogenesis reveals novel targets of different WNT signaling pathways in the somitic mesoderm
-
Buttitta L, Tanaka TS, Chen AE, et al. Microarray analysis of somitogenesis reveals novel targets of different WNT signaling pathways in the somitic mesoderm. Dev Biol 2003;258:91-104
-
(2003)
Dev Biol
, vol.258
, pp. 91-104
-
-
Buttitta, L.1
Tanaka, T.S.2
Chen, A.E.3
-
93
-
-
33845444174
-
A complex oscillating network of signaling genes underlies the mouse segmentation clock
-
Dequéant ML, Glynn E, Gaudenz K, et al. A complex oscillating network of signaling genes underlies the mouse segmentation clock. Science 2006;314:1595-8
-
(2006)
Science
, vol.314
, pp. 1595-1598
-
-
Dequéant, M.L.1
Glynn, E.2
Gaudenz, K.3
-
94
-
-
34247125714
-
Identification of oscillatory genes in somitogenesis from functional genomic analysis of a human mesenchymal stem cell model
-
William DA, Saitta B, Gibson JD, et al. Identification of oscillatory genes in somitogenesis from functional genomic analysis of a human mesenchymal stem cell model. Dev Biol 2007;305:172-86
-
(2007)
Dev Biol
, vol.305
, pp. 172-186
-
-
William, D.A.1
Saitta, B.2
Gibson, J.D.3
-
95
-
-
17344371740
-
High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
-
Pinkel D, Segraves R, Sudar D, et al. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 1998;20:207-11
-
(1998)
Nat Genet
, vol.20
, pp. 207-211
-
-
Pinkel, D.1
Segraves, R.2
Sudar, D.3
-
96
-
-
4444239112
-
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
-
Vissers LE, van Ravenswaaiji CM, Admiraal R, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 2004;36:955-7
-
(2004)
Nat Genet
, vol.36
, pp. 955-957
-
-
Vissers, L.E.1
van Ravenswaaiji, C.M.2
Admiraal, R.3
-
97
-
-
4043172580
-
Folate modulates Hox gene-controlled skeletal phenotypes
-
Kappen C, Mello MA, Finnell RH, et al. Folate modulates Hox gene-controlled skeletal phenotypes. Genesis 2004;39:155-66
-
(2004)
Genesis
, vol.39
, pp. 155-166
-
-
Kappen, C.1
Mello, M.A.2
Finnell, R.H.3
-
98
-
-
77953466626
-
-
International Consortium for Vertebral Anomalies and Scoliosis ICVAS, Available from
-
International Consortium for Vertebral Anomalies and Scoliosis (ICVAS). Available from: http://www.icvas.org
-
-
-
-
99
-
-
44449135947
-
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome
-
Cornier AS, Staehling-Hampton K, Delventhal KM, et al. Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. Am J Hum Genet 2008;82:1334-41100
-
(2008)
Am J Hum Genet
, vol.82
, pp. 1334-41100
-
-
Cornier, A.S.1
Staehling-Hampton, K.2
Delventhal, K.M.3
-
100
-
-
33749532523
-
Classification of congenitally fused cervical patterns in Klippel-Feil patients: Epidemiology and role in the development of cervical spine-related symptoms
-
Samartzis DD, Herman J, Lubicky JP, et al. Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms. Spine 2006;31:E798-804
-
(2006)
Spine
, vol.31
-
-
Samartzis, D.D.1
Herman, J.2
Lubicky, J.P.3
-
101
-
-
0022876636
-
Oculoauriculovertebral dysplasia and variants: Phenotypic characteristics of 294 patients
-
Rollnick BR, Kaye CI Nagatoshi K, et al. Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients. Am J Med Genet 1987;26:361-75
-
(1987)
Am J Med Genet
, vol.26
, pp. 361-375
-
-
Rollnick, B.R.1
Kaye, C.I.2
Nagatoshi, K.3
-
102
-
-
0030911255
-
The spectrum of congenital anomalies of the VATER association: An international study
-
Botto LD, Khoury MJ, Mastroiacovo P, et al. The spectrum of congenital anomalies of the VATER association: an international study. Am J Med Genet 1997;71:8-15
-
(1997)
Am J Med Genet
, vol.71
, pp. 8-15
-
-
Botto, L.D.1
Khoury, M.J.2
Mastroiacovo, P.3
-
103
-
-
34250674386
-
Abnormal vertebral segmentation and the notch signaling pathway in man
-
Turnpenny PD, Alman B, Cornier AS, et al. Abnormal vertebral segmentation and the notch signaling pathway in man. Dev Dyn 2007;236:1456-74
-
(2007)
Dev Dyn
, vol.236
, pp. 1456-1474
-
-
Turnpenny, P.D.1
Alman, B.2
Cornier, A.S.3
-
104
-
-
0042632613
-
A cluster of autosomal recessive spondylocastal dysostosis caused by three newly identified DLL3 mutations segregating in a small village
-
Bonafé L, Giunta C, Gassner M, et al. A cluster of autosomal recessive spondylocastal dysostosis caused by three newly identified DLL3 mutations segregating in a small village. Clin Genet 2003;64:28-35
-
(2003)
Clin Genet
, vol.64
, pp. 28-35
-
-
Bonafé, L.1
Giunta, C.2
Gassner, M.3
-
105
-
-
34447341700
-
Disruption of the somitic molecular clock causes abnormal vertebral segmentation
-
Sparrow DB, Chapman G, Turnpenny PD, et al. Disruption of the somitic molecular clock causes abnormal vertebral segmentation. Birth Defects Res C Embryo Today 2007;81:93-110
-
(2007)
Birth Defects Res C Embryo Today
, vol.81
, pp. 93-110
-
-
Sparrow, D.B.1
Chapman, G.2
Turnpenny, P.D.3
-
106
-
-
3242728752
-
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations
-
Whittock NV, Ellard S, Duncan J, et al. Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations. Clin Genet 2004;66:67-72
-
(2004)
Clin Genet
, vol.66
, pp. 67-72
-
-
Whittock, N.V.1
Ellard, S.2
Duncan, J.3
|