-
1
-
-
0030013473
-
The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart disease: A case report
-
Aurora P, Wallis CE., Winter RM (1996) The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart disease: a case report. Clin Dysmorphol 5:165-169
-
(1996)
Clin Dysmorphol
, vol.5
, pp. 165-169
-
-
Aurora, P.1
Wallis, C.E.2
Winter, R.M.3
-
2
-
-
0022471829
-
Spondylocostal/spondylothoracic dysostosis: The clinical basis for prognosticating and genetic counseling
-
Aymé S, Preus M (1986) Spondylocostal/spondylothoracic dysostosis: rhc clinical basis for prognosticating and genetic counseling. Am J Med Genet 24:599-606
-
(1986)
Am J Med Genet
, vol.24
, pp. 599-606
-
-
Aymé, S.1
Preus, M.2
-
3
-
-
0028018506
-
The undulated mouse and the development of the vertebral column: Is there a PAX-1 homologue?
-
Balling R (1994) The undulated mouse and the development of the vertebral column: is there a PAX-1 homologue? Clin Dysmorphol 3:185-191
-
(1994)
Clin Dysmorphol
, vol.3
, pp. 185-191
-
-
Balling, R.1
-
4
-
-
0016213570
-
Costovertebral dysplasia
-
Bartsocas CS, Kiossoglou KA, Papas CV, Xanthou-Tsingoglou M, Anagnostakis DE, Daskalopoulou HD (1974) Costovertebral dysplasia. Birth Defects 10:221-226
-
(1974)
Birth Defects
, vol.10
, pp. 221-226
-
-
Bartsocas, C.S.1
Kiossoglou, K.A.2
Papas, C.V.3
Xanthou-Tsingoglou, M.4
Anagnostakis, D.E.5
Daskalopoulou, H.D.6
-
5
-
-
0019436263
-
Spondylocostal dysostosis in South African sisters
-
Beighton P, Horan FT (1981) Spondylocostal dysostosis in South African sisters. Clin Genet 19:23-25
-
(1981)
Clin Genet
, vol.19
, pp. 23-25
-
-
Beighton, P.1
Horan, F.T.2
-
6
-
-
0017857271
-
Le syndrome de dysostose spondylothoracique ou spondylocostale
-
Bonaime JL, Bonne B, Joannard A, Guerard L, Guilhot J, Cotton B, Butel J, et al (1978) Le syndrome de dysostose spondylothoracique ou spondylocostale. Pédiatrie 33:173-188
-
(1978)
Pédiatrie
, vol.33
, pp. 173-188
-
-
Bonaime, J.L.1
Bonne, B.2
Joannard, A.3
Guerard, L.4
Guilhot, J.5
Cotton, B.6
Butel, J.7
-
7
-
-
0001506104
-
Modulation of non-templated nucleotide addition by Taq DNA polymerase: Primer modifications that facilitate genotyping
-
Brownstein MJ, Carpten JD, Smith JR (1996) Modulation of non-templated nucleotide addition by Taq DNA polymerase: primer modifications that facilitate genotyping. Biotechniques 20:1004-1010
-
(1996)
Biotechniques
, vol.20
, pp. 1004-1010
-
-
Brownstein, M.J.1
Carpten, J.D.2
Smith, J.R.3
-
8
-
-
0015005110
-
Evidence for autosomal inheritance of costovertebral dysplasia
-
Cantú JM, Urrusti J, Rosales G, Rojas A (1971) Evidence for autosomal inheritance of costovertebral dysplasia. Clin Genet 2:149-154
-
(1971)
Clin Genet
, vol.2
, pp. 149-154
-
-
Cantú, J.M.1
Urrusti, J.2
Rosales, G.3
Rojas, A.4
-
9
-
-
0019468565
-
Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship
-
Casamassima AC, Morton CC, Nance WE, Kodroff M, Caldwell R, Kelly T, Wolf B (1981) Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship. Am J Med Genet 8:117-127
-
(1981)
Am J Med Genet
, vol.8
, pp. 117-127
-
-
Casamassima, A.C.1
Morton, C.C.2
Nance, W.E.3
Kodroff, M.4
Caldwell, R.5
Kelly, T.6
Wolf, B.7
-
11
-
-
0030860355
-
Spondylocostal dysostosis associated with a 46,XX, + 15,dic(6;15)(q25;q11.2) translocation
-
Crow YJ, Tolmie JL, Rippard K, Nairn L, Wilkinson AG, Turner T (1997) Spondylocostal dysostosis associated with a 46,XX, + 15,dic(6;15)(q25;q11.2) translocation. Clin Dysmorphol 6:347-350
-
(1997)
Clin Dysmorphol
, vol.6
, pp. 347-350
-
-
Crow, Y.J.1
Tolmie, J.L.2
Rippard, K.3
Nairn, L.4
Wilkinson, A.G.5
Turner, T.6
-
12
-
-
0021080866
-
Hereditary costovertebral dysplasia with malignant cerebral tumour
-
David TJ, Glass A (1983) Hereditary costovertebral dysplasia with malignant cerebral tumour. J Med Genet 20:441-444
-
(1983)
J Med Genet
, vol.20
, pp. 441-444
-
-
David, T.J.1
Glass, A.2
-
13
-
-
73649192961
-
Syndrome polydysspondylique par translocation 14-15 et dyschondrostéose chez un même sujet: Ségrégation familiale
-
De Grouchy J, Mlynarski JC, Maroteaux P, Lamy M, Deshaies G, Benichou C, Salmon C (1963) Syndrome polydysspondylique par translocation 14-15 et dyschondrostéose chez un même sujet: ségrégation familiale. CR Acad Sci D Paris 256: 1614-1616
-
(1963)
CR Acad Sci D Paris
, vol.256
, pp. 1614-1616
-
-
De Grouchy, J.1
Mlynarski, J.C.2
Maroteaux, P.3
Lamy, M.4
Deshaies, G.5
Benichou, C.6
Salmon, C.7
-
14
-
-
0020059415
-
Dysostoses spondylocostales et cardiopathics congénitales
-
Delgoffe C, Hoeffel JC, Worms AM, Bretagne MC, Pernot C, Pierson M (1982) Dysostoses spondylocostales et cardiopathics congénitales. Ann Pédiatr 29:135-139
-
(1982)
Ann Pédiatr
, vol.29
, pp. 135-139
-
-
Delgoffe, C.1
Hoeffel, J.C.2
Worms, A.M.3
Bretagne, M.C.4
Pernot, C.5
Pierson, M.6
-
15
-
-
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
-
16
-
-
0024441522
-
Spondylocostal dysostosis: An example of autosomal dominant inheritance in a large family
-
Floor E, De Jong RO, Fryns JP, Smulders C, Vles JSH (1989) Spondylocostal dysostosis: an example of autosomal dominant inheritance in a large family. Clin Genet 36:236-241
-
(1989)
Clin Genet
, vol.36
, pp. 236-241
-
-
Floor, E.1
De Jong, R.O.2
Fryns, J.P.3
Smulders, C.4
Vles, J.S.H.5
-
17
-
-
0016257416
-
The autosomal recessive form of spondylocostal dysostosis
-
Franceschini P, Grassi E, Fabris C, Bogetti G, Randaccio M (1974) The autosomal recessive form of spondylocostal dysostosis. Radiology 112:673-675
-
(1974)
Radiology
, vol.112
, pp. 673-675
-
-
Franceschini, P.1
Grassi, E.2
Fabris, C.3
Bogetti, G.4
Randaccio, M.5
-
18
-
-
0029314871
-
Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping
-
Gelb BD, Edelson JG, Desnick RJ (1995) Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping. Nat Genet 10:235-237
-
(1995)
Nat Genet
, vol.10
, pp. 235-237
-
-
Gelb, B.D.1
Edelson, J.G.2
Desnick, R.J.3
-
19
-
-
0033583078
-
Synteny-defined candidate genes for congenital and idiopathic scoliosis
-
Giampietro PF, Raggio CL, Blank RD (1999) Synteny-defined candidate genes for congenital and idiopathic scoliosis. Am J Med Genet 83:164-177
-
(1999)
Am J Med Genet
, vol.83
, pp. 164-177
-
-
Giampietro, P.F.1
Raggio, C.L.2
Blank, R.D.3
-
20
-
-
0029045063
-
Mutations in paralogous Hox genes result in overlapping homeotic transformations of the axial skeleton: Evidence for unique and redundant function
-
Horan GSB, Kovàcs EN, Behringer RR, Featherstone MS (1995) Mutations in paralogous Hox genes result in overlapping homeotic transformations of the axial skeleton: evidence for unique and redundant function. Dev Biol 169: 359-372
-
(1995)
Dev Biol
, vol.169
, pp. 359-372
-
-
Horan, G.S.B.1
Kovàcs, E.N.2
Behringer, R.R.3
Featherstone, M.S.4
-
21
-
-
0001741191
-
Hereditary malformation of the vertebral bodies
-
Jarcho S, Levin PM (1938) Hereditary malformation of the vertebral bodies. Bull Johns Hopkins Hosp 62:216-226
-
(1938)
Bull Johns Hopkins Hosp
, vol.62
, pp. 216-226
-
-
Jarcho, S.1
Levin, P.M.2
-
22
-
-
0001763482
-
Molecular coding of axial positions by Hox genes
-
Kessel M (1991) Molecular coding of axial positions by Hox genes. Seminars in Developmental Biology 2:367-373
-
(1991)
Seminars in Developmental Biology
, vol.2
, pp. 367-373
-
-
Kessel, M.1
-
23
-
-
0021352805
-
Spondylo-costal dysplasia. A further report - Review of 14 cases
-
Kozlowski K (1984) Spondylo-costal dysplasia. A further report - review of 14 cases. ROFO Fortschr Geb Röntgenstr Nuklearmed 140:204-209
-
(1984)
ROFO Fortschr Geb Röntgenstr Nuklearmed
, vol.140
, pp. 204-209
-
-
Kozlowski, K.1
-
24
-
-
17344368196
-
The mouse pudgy mutation disrupts Delta homologue DII3 and initiation of early somite boundaries
-
Kusumi K, Sun ES, Kerrebrock AW, Bronson RT, Chi D-C, Bulotsky MS, Spencer JB, et al (1998) The mouse pudgy mutation disrupts Delta homologue DII3 and initiation of early somite boundaries. Nat Genet 19:274-278
-
(1998)
Nat Genet
, vol.19
, pp. 274-278
-
-
Kusumi, K.1
Sun, E.S.2
Kerrebrock, A.W.3
Bronson, R.T.4
Chi, D.-C.5
Bulotsky, M.S.6
Spencer, J.B.7
-
25
-
-
0023239442
-
Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
-
Lander ES, Botstein D (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236:1567-1570
-
(1987)
Science
, vol.236
, pp. 1567-1570
-
-
Lander, E.S.1
Botstein, D.2
-
26
-
-
0025162159
-
Spondylocostal dysostosis: Dominant type
-
Lorenz P, Rupprecht E (1990) Spondylocostal dysostosis: dominant type. Am J Med Genet 35:219-221
-
(1990)
Am J Med Genet
, vol.35
, pp. 219-221
-
-
Lorenz, P.1
Rupprecht, E.2
-
27
-
-
0028285971
-
Severe spondylocostal dysostosis associated with other congenital anomalies: A clinical/epidemiological analysis and description of ten cases from the Spanish Registry
-
Martínez-Frías ML, Bermejo E, Paisán L, Martín M, Egüés J, López JA, Martínez S, et al (1994) Severe spondylocostal dysostosis associated with other congenital anomalies: a clinical/epidemiological analysis and description of ten cases from the Spanish Registry. Am J Med Genet 51:203-212
-
(1994)
Am J Med Genet
, vol.51
, pp. 203-212
-
-
Martínez-Frías, M.L.1
Bermejo, E.2
Paisán, L.3
Martín, M.4
Egüés, J.5
López, J.A.6
Martínez, S.7
-
28
-
-
0030064549
-
Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature
-
Mortier GR, Lachman RS, Bocian M, Rimoin DL (1996) Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature. Am J Med Genet 61: 310-319
-
(1996)
Am J Med Genet
, vol.61
, pp. 310-319
-
-
Mortier, G.R.1
Lachman, R.S.2
Bocian, M.3
Rimoin, D.L.4
-
29
-
-
0008569380
-
Costovertebral anomalies with apparent recessive inheritance
-
Norum RA, McKusick VA (1969) Costovertebral anomalies with apparent recessive inheritance. Birth Defects 18: 326-329
-
(1969)
Birth Defects
, vol.18
, pp. 326-329
-
-
Norum, R.A.1
McKusick, V.A.2
-
30
-
-
0017642705
-
Trisomy 8: An international study of 70 patients
-
Riccardi VM (1977) Trisomy 8: an international study of 70 patients. Birth Defects OAS 13:171-184
-
(1977)
Birth Defects OAS
, vol.13
, pp. 171-184
-
-
Riccardi, V.M.1
-
32
-
-
0023868679
-
Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity
-
Roberts AP, Conner AN, Tolmie JL, Connor JM (1988) Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity. J Bone Joint Surg [Br] 70:123-126
-
(1988)
J Bone Joint Surg [Br]
, vol.70
, pp. 123-126
-
-
Roberts, A.P.1
Conner, A.N.2
Tolmie, J.L.3
Connor, J.M.4
-
33
-
-
0026704040
-
Identical twins with an autosomal recessive form of spondylocostal dysostosis
-
Satar M, Kozanoglu MN, Atilla E (1992) Identical twins with an autosomal recessive form of spondylocostal dysostosis. Clin Genet 41:290-292
-
(1992)
Clin Genet
, vol.41
, pp. 290-292
-
-
Satar, M.1
Kozanoglu, M.N.2
Atilla, E.3
-
35
-
-
0028353878
-
Human pax gene expression and development of the vertebral column
-
Smith CA, Tuan RS (1994) Human pax gene expression and development of the vertebral column. Clin Orthop 302: 241-250
-
(1994)
Clin Orthop
, vol.302
, pp. 241-250
-
-
Smith, C.A.1
Tuan, R.S.2
-
36
-
-
0023760747
-
Congenital spinal deformity in a three generation family
-
Temple IK, Thomas TG, Baraitser M (1988) Congenital spinal deformity in a three generation family. J Med Genet 25: 831-834
-
(1988)
J Med Genet
, vol.25
, pp. 831-834
-
-
Temple, I.K.1
Thomas, T.G.2
Baraitser, M.3
-
37
-
-
0026098704
-
Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis
-
Turnpenny PD, Thwaites RJ, Boulos FN (1991) Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis. J Med Genet 28:27-33
-
(1991)
J Med Genet
, vol.28
, pp. 27-33
-
-
Turnpenny, P.D.1
Thwaites, R.J.2
Boulos, F.N.3
-
38
-
-
0017900204
-
Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome)
-
Wadia RS, Shirole DB, Dikshit MS (1978) Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome). J Med Genet 15: 123-127
-
(1978)
J Med Genet
, vol.15
, pp. 123-127
-
-
Wadia, R.S.1
Shirole, D.B.2
Dikshit, M.S.3
|