-
1
-
-
0030013473
-
The Jarcho-Levin syndrome and complex congenital heart disease: A case report
-
Aurora P., Wallis C.E., Winter R.M.: The Jarcho-Levin syndrome and complex congenital heart disease: a case report. Clin. Dysmorph., 1996, 5, 165-169.
-
(1996)
Clin. Dysmorph.
, vol.5
, pp. 165-169
-
-
Aurora, P.1
Wallis, C.E.2
Winter, R.M.3
-
2
-
-
0026474147
-
Development of the skeletal system
-
Balling R., Lau C.F., Dietrich S., Wallin J., Gruss P.: Development of the skeletal system. Ciba Found Symp., 1992, 165, 132-143.
-
(1992)
Ciba Found Symp.
, vol.165
, pp. 132-143
-
-
Balling, R.1
Lau, C.F.2
Dietrich, S.3
Wallin, J.4
Gruss, P.5
-
3
-
-
0028883235
-
Associated malformations and chromosomal defects in congenital diaphragmatic hernia
-
Bollmann R., Kalache K., Mau H., Chaoui R., Tennstedt C.: Associated malformations and chromosomal defects in congenital diaphragmatic hernia. Fetal Diagn. Ther., 1995, 10, 52-59.
-
(1995)
Fetal Diagn. Ther.
, vol.10
, pp. 52-59
-
-
Bollmann, R.1
Kalache, K.2
Mau, H.3
Chaoui, R.4
Tennstedt, C.5
-
4
-
-
0017857271
-
Le syndrome de dysostose spondylothoracique ou spondylocostale
-
Bonaime J.L., Bonne B., Joannard A., Gueraud L., Guilhot J., Cotton B., Butel J., Gilly R., Bost M.: Le syndrome de dysostose spondylothoracique ou spondylocostale. Pédiatrie, 1978, 33, 173-188.
-
(1978)
Pédiatrie
, vol.33
, pp. 173-188
-
-
Bonaime, J.L.1
Bonne, B.2
Joannard, A.3
Gueraud, L.4
Guilhot, J.5
Cotton, B.6
Butel, J.7
Gilly, R.8
Bost, M.9
-
6
-
-
0003638823
-
Normal vertebral column
-
Chicago, Year Book Medical Publishers
-
Caffey J.P.: Normal vertebral column. In: Pediatric X-ray Diagnosis. Chicago, Year Book Medical Publishers, 1967, 1101-1108.
-
(1967)
Pediatric X-ray Diagnosis
, pp. 1101-1108
-
-
Caffey, J.P.1
-
7
-
-
0020059415
-
Dysostoses spondylocostales et cardiopathies congènitales
-
Delgoffe C., Hoeffel J.C., Worms A.M., Bretagne M.C., Pernot C., Pierson M.: Dysostoses spondylocostales et cardiopathies congènitales. Ann. Pèdiat., 1982, 29, 135-139
-
(1982)
Ann. Pèdiat.
, 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
-
8
-
-
0025351226
-
Homeobox genes and the vertebrate body plan
-
Derobertis E.M., Oliver G., Wright C.V: Homeobox genes and the vertebrate body plan. Sci. Am., 1990, 263, 46-52.
-
(1990)
Sci. Am.
, vol.263
, pp. 46-52
-
-
Derobertis, E.M.1
Oliver, G.2
Wright, C.V.3
-
9
-
-
0017028934
-
Spondylothoracic dysplasia (Jarcho-Levin syndrome)
-
Gellis S.S., Feingold M.: Spondylothoracic dysplasia (Jarcho-Levin syndrome). Am. J. Dis. Child., 1976, 130, 513-514.
-
(1976)
Am. J. Dis. Child.
, vol.130
, pp. 513-514
-
-
Gellis, S.S.1
Feingold, M.2
-
10
-
-
0025968759
-
Spondylocostal Dysplasia and neural tube defects
-
Giacoia G.P., Say B.: Spondylocostal Dysplasia and neural tube defects. J. Med. Genet., 1991, 28, 51-53.
-
(1991)
J. Med. Genet.
, vol.28
, pp. 51-53
-
-
Giacoia, G.P.1
Say, B.2
-
11
-
-
0029045063
-
Mutations in paralogous Hox genes result in overlapping homeotic transformations of the axial skeleton: Evidence for unique and redundant function
-
Horan G.S., Kovacs E.N., Behringer R.R., Featherstone M.S.: Mutations in paralogous Hox genes result in overlapping homeotic transformations of the axial skeleton: evidence for unique and redundant function. Dev. Biol., 1995, 169, 359-372.
-
(1995)
Dev. Biol.
, vol.169
, pp. 359-372
-
-
Horan, G.S.1
Kovacs, E.N.2
Behringer, R.R.3
Featherstone, M.S.4
-
12
-
-
0001741191
-
Hereditary malformation of the vertebral bodies
-
Jarcho S., Levin PM.: Hereditary malformation of the vertebral bodies. Bull. Johns Hopkins Hosp., 1938, 62, 216-226.
-
(1938)
Bull. Johns Hopkins Hosp.
, vol.62
, pp. 216-226
-
-
Jarcho, S.1
Levin, P.M.2
-
13
-
-
0031051373
-
New syndrome of spondylospinal thoracic dysostosis with multiple plerygia and arthrogryposis
-
Johnson v.P., Keppen L.D., Carpenter M.S., Randall B.B., Newby PE.: New syndrome of spondylospinal thoracic dysostosis with multiple plerygia and arthrogryposis. Am. J. Med. Genet., 1997, 69, 73-78.
-
(1997)
Am. J. Med. Genet.
, vol.69
, pp. 73-78
-
-
Johnson, V.P.1
Keppen, L.D.2
Carpenter, M.S.3
Randall, B.B.4
Newby, P.E.5
-
14
-
-
0025822651
-
Jarcho-Levin syndrome: Four new cases and classification of subtypes
-
Karnes P.S., Day D., Barry S.A., Pierpont M,E.M.: Jarcho-Levin syndrome: Four new cases and classification of subtypes. Am. J. Med. Genet., 1991, 40, 264-270.
-
(1991)
Am. J. Med. Genet.
, vol.40
, pp. 264-270
-
-
Karnes, P.S.1
Day, D.2
Barry, S.A.3
Pierpont, M.E.M.4
-
15
-
-
0025203277
-
Craniofrontonasal dysostosis: Variable expression in a three-generation family
-
Kere J., Ritvanen A., Marttinen E., Kaitila I.: Craniofrontonasal dysostosis: variable expression in a three-generation family, Clin. Genet., 1990, 38, 441-446.
-
(1990)
Clin. Genet.
, vol.38
, pp. 441-446
-
-
Kere, J.1
Ritvanen, A.2
Marttinen, E.3
Kaitila, I.4
-
16
-
-
0028153730
-
Jarcho-Levin syndrome: Unusual survival in a classical case
-
McCall C.P., Hudgins L., Cloutier M., Greenstein R.M., Cassidy S. B.: Jarcho-Levin syndrome: unusual survival in a classical case. Am J. Med. Genet., 1994, 49, 328-32.
-
(1994)
Am. J. Med. Genet.
, vol.49
, pp. 328-332
-
-
McCall, C.P.1
Hudgins, L.2
Cloutier, M.3
Greenstein, R.M.4
Cassidy, S.B.5
-
17
-
-
0030064549
-
Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature
-
Mortier G.R., Lachman R.S., Bocian M., Rimoin D.L.: Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature. Am. J. Med. Genet., 1996, 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
-
18
-
-
0026524452
-
Case of multivertebral anomalies, cloacal dysgenesis, and other anomalies presenting prenatally as cystic kidneys
-
Murr M.M., Waziri M.H., Schelper R.L., Abuyouzelf M.: Case of multivertebral anomalies, cloacal dysgenesis, and other anomalies presenting prenatally as cystic kidneys. Am. J. Med. Genet., 1992, 42, 761-765.
-
(1992)
Am. J. Med. Genet.
, vol.42
, pp. 761-765
-
-
Murr, M.M.1
Waziri, M.H.2
Schelper, R.L.3
Abuyouzelf, M.4
-
19
-
-
0025773348
-
Epidemiological study of congenital diaphragmatic defects with special reference to aetiology
-
Philip N., Gambarelli D., Guys J.M., Camboulives J., Ayme S.: Epidemiological study of congenital diaphragmatic defects with special reference to aetiology. Eur. J. Pediatr., 1991, 150, 726-729.
-
(1991)
Eur. J. Pediatr.
, vol.150
, pp. 726-729
-
-
Philip, N.1
Gambarelli, D.2
Guys, J.M.3
Camboulives, J.4
Ayme, S.5
-
20
-
-
0010659553
-
Craniofrontal dysplasia: Clinical delineation
-
Reich E., Wishnick M.M., McCarthy J.G., Risch N.: Craniofrontal dysplasia: clinical delineation. Am. J. Hum. Genet., 1985, 37, A72.
-
(1985)
Am. J. Hum. Genet.
, vol.37
-
-
Reich, E.1
Wishnick, M.M.2
McCarthy, J.G.3
Risch, N.4
-
21
-
-
0024541006
-
Neural defects in Jarcho-Levin syndrome
-
Reyes M.G., Morales A., Harris V., Barreta T.M., Goldbarg H.: Neural defects in Jarcho-Levin syndrome. J. Child. Neurol., 1989, 4, 51-54.
-
(1989)
J. Child. Neurol.
, vol.4
, pp. 51-54
-
-
Reyes, M.G.1
Morales, A.2
Harris, V.3
Barreta, T.M.4
Goldbarg, H.5
-
22
-
-
0023868679
-
Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity
-
Roberts A.P., Conner A.N., Tolmie J. L., Connor J.M.: Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity. J. Bone Joint Surg. Br., 1988, 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
-
24
-
-
0026098704
-
Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis
-
Turnpenny P.D., Thwaites R.J., Boulos F.N.: 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
|