-
2
-
-
0023784322
-
Spondylothoracic dysplasia. A report of ten cases with follow-up
-
Herold HZ, Edlitz M, Baruchin A. Spondylothoracic dysplasia. A report of ten cases with follow-up. Spine 1988;13:478-81.
-
(1988)
Spine
, vol.13
, pp. 478-481
-
-
Herold, H.Z.1
Edlitz, M.2
Baruchin, A.3
-
3
-
-
0025822651
-
Jarcho-Levin syndrome: Four new cases and classification of subtypes
-
Karnes PS, Day D, Barry SA, et al. Jarcho-Levin syndrome: Four new cases and classification of subtypes. J Med Genet 1991;40:264-70.
-
(1991)
J Med Genet
, vol.40
, pp. 264-270
-
-
Karnes, P.S.1
Day, D.2
Barry, S.A.3
-
4
-
-
0028285971
-
Severe spondylocostal dysostosis associated with other congenital anomalies. A clinical/epidemiologic analysis and description of ten cases from the Spanish registry
-
Martínez-Frías ML, Bermejo E, Paisán L, et al. Severe spondylocostal dysostosis associated with other congenital anomalies. A clinical/epidemiologic analysis and description of ten cases from the Spanish registry. J Med Genet 1994;51:203-12.
-
(1994)
J Med Genet
, vol.51
, pp. 203-212
-
-
Martínez-Frías, M.L.1
Bermejo, E.2
Paisán, L.3
-
5
-
-
0014365211
-
Spondylocostal dysplasia: A dominantly inherited form of short-trunked dwarfism
-
Rimoin DL, Fletcher BD, McKusick VA. Spondylocostal dysplasia: A dominantly inherited form of short-trunked dwarfism. J Med Genet 1968;45:948-53.
-
(1968)
J Med Genet
, vol.45
, pp. 948-953
-
-
Rimoin, D.L.1
Fletcher, B.D.2
McKusick, V.A.3
-
8
-
-
33645788103
-
Clinical evaluations of the treatment of congenital scoliosis
-
Aburakawa K, Harada M, Otake S. Clinical evaluations of the treatment of congenital scoliosis. Orthop Surg & Trauma 1996;39:55-62.
-
(1996)
Orthop Surg & Trauma
, vol.39
, pp. 55-62
-
-
Aburakawa, K.1
Harada, M.2
Otake, S.3
-
9
-
-
0000369139
-
Congenital scoliosis
-
Western SL, ed. New York, NY: Raven Press
-
McMaster MJ. Congenital scoliosis. In: Western SL, ed. The Pediatric Spine. New York, NY: Raven Press; 1994:227-44.
-
(1994)
The Pediatric Spine
, pp. 227-244
-
-
McMaster, M.J.1
-
10
-
-
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. J Med Genet 1996;61:310-9.
-
(1996)
J Med Genet
, vol.61
, pp. 310-319
-
-
Mortier, G.R.1
Lachman, R.S.2
Bocian, M.3
-
12
-
-
0035694730
-
When body segmentation goes wrong
-
Pourquié O, Kusumi K. When body segmentation goes wrong. Clin Genet 2001;60:409-16.
-
(2001)
Clin Genet
, vol.60
, pp. 409-416
-
-
Pourquié, O.1
Kusumi, K.2
-
13
-
-
0037448536
-
Periodic notch inhibition by lunatic fringe underlies the chick segmentation clock
-
Dale JK, Maroto M, Dequeant ML, et al. Periodic notch inhibition by lunatic fringe underlies the chick segmentation clock. Nature 2003;421:275-8.
-
(2003)
Nature
, vol.421
, pp. 275-278
-
-
Dale, J.K.1
Maroto, M.2
Dequeant, M.L.3
-
14
-
-
0042426471
-
The skeletal system
-
Moore KL, Persaud TVN, eds. Philadelphia, PA: Saunders
-
Moore KL, Persaud TVN. The skeletal system. In: Moore KL, Persaud TVN, eds. The Developing Human. Philadelphia, PA: Saunders; 1993:354-69.
-
(1993)
The Developing Human
, pp. 354-369
-
-
Moore, K.L.1
Persaud, T.V.N.2
-
15
-
-
0042819653
-
Rib defects in pattern of multiple malformations: A retrospective review and phenotypic analysis of 47 cases
-
Wattanasirichaigoon D, Prasad C, Schneider G, et al. Rib defects in pattern of multiple malformations: A retrospective review and phenotypic analysis of 47 cases. Am J Med Genet 2003;122A:63-9.
-
(2003)
Am J Med Genet
, vol.122 A
, pp. 63-69
-
-
Wattanasirichaigoon, D.1
Prasad, C.2
Schneider, G.3
-
16
-
-
0034028904
-
Mutation in the human delta homologue, DLL3, cause axial skeletal defect in spondylocostal dysostosis
-
Bulman MP, Kusumi K, Frayling TM, et al. Mutation in the human delta homologue, DLL3, cause axial skeletal defect in spondylocostal dysostosis. Nat Genet 2000;24:438-41.
-
(2000)
Nat Genet
, vol.24
, pp. 438-441
-
-
Bulman, M.P.1
Kusumi, K.2
Frayling, T.M.3
-
17
-
-
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
-
18
-
-
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
-
19
-
-
7044247901
-
Congenital scoliosis and vertebral malformations. Characterization of segmentation defects for genetic analysis
-
Erol B, Tracy MR, Dormans JP, et al. Congenital scoliosis and vertebral malformations. Characterization of segmentation defects for genetic analysis. J Pediatr Orthop 2004;24:674-82.
-
(2004)
J Pediatr Orthop
, vol.24
, pp. 674-682
-
-
Erol, B.1
Tracy, M.R.2
Dormans, J.P.3
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