-
1
-
-
0022471829
-
Spondylocostal/spondylothoracic dysostosis: The clinical basis for prognosticating and genetic counseling
-
AYME S. and PREUS M.: Spondylocostal/spondylothoracic dysostosis: The clinical basis for prognosticating and genetic counseling. Am. J. Med. Genet., 1986, 24, 599-606.
-
(1986)
Am. J. Med. Genet.
, vol.24
, pp. 599-606
-
-
Ayme, S.1
Preus, M.2
-
2
-
-
0015005110
-
Evidence for autosomal recessive inheritance of costovertebral dysplasia
-
CANTU J.M., URRUSTI J., ROSALES G. and ROJAS A.: Evidence for autosomal recessive inheritance of costovertebral dysplasia. Clin. Genet., 1971, 2, 149-154.
-
(1971)
Clin. Genet.
, vol.2
, pp. 149-154
-
-
Cantu, J.M.1
Urrusti, J.2
Rosales, G.3
Rojas, A.4
-
3
-
-
0014956566
-
Bizarre deformities in offspring of user of lysergic acid diethylamide
-
ELLER J.L. and MORTON J.M.: Bizarre deformities in offspring of user of lysergic acid diethylamide. N. Engl. J. Med., 1970, 283, 395-397.
-
(1970)
N. Engl. J. Med.
, vol.283
, pp. 395-397
-
-
Eller, J.L.1
Morton, J.M.2
-
5
-
-
0016257416
-
The autosomal recessive form of spondylocostal dysostosis
-
FRANCESCHINI P., GRASSI E., FABRIS C., BOGETTI G. and RANDACCIO M.: The autosomal recessive form of spondylocostal dysostosis. Radiology., 1974, 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
-
6
-
-
0022119929
-
Lethal skeletal dysplasias: Delineation of a new distinct entity with spondylocostal dysostosis, multiple internal abnormalities and Dandy-Walker cyst
-
FRYNS J.P. and MOERMAN P.: Lethal skeletal dysplasias: delineation of a new distinct entity with spondylocostal dysostosis, multiple internal abnormalities and Dandy-Walker cyst. J. Genet. Hum., 1985, 33, 131-315.
-
(1985)
J. Genet. Hum.
, vol.33
, pp. 131-315
-
-
Fryns, J.P.1
Moerman, P.2
-
7
-
-
0025968759
-
Spondylocostal dysplasia and neural tube defects
-
GIACOIA G.P. and SAY B.: Spondylocostal dysplasia and neural tube defects. J. Med. Genet., 1991, 25, 51-53.
-
(1991)
J. Med. Genet.
, vol.25
, pp. 51-53
-
-
Giacoia, G.P.1
Say, B.2
-
8
-
-
0025822651
-
Jarcho-Levin syndrome: Four new cases and classification of subtypes
-
KARNES A.P., DAY D., BERRY S.A. and PIERPONT M.E.: 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, A.P.1
Day, D.2
Berry, S.A.3
Pierpont, M.E.4
-
9
-
-
0027693244
-
Spondylocostal dysostosis
-
KHER A., BHAT M., RATNAM K.L., KHAMBADKONE S., BHARUCHA B.A. and IRANI S.F.: Spondylocostal dysostosis. Indian J. Pediatr., 1993, 60, 813-818.
-
(1993)
Indian J. Pediatr.
, vol.60
, pp. 813-818
-
-
Kher, A.1
Bhat, M.2
Ratnam, K.L.3
Khambadkone, S.4
Bharucha, B.A.5
Irani, S.F.6
-
10
-
-
0028954823
-
Intramedullary spinal cord lipomas
-
LEE M., REZA A.R., ABBOTT R., COELHO D.H., EPSTEIN F.J.: Intramedullary spinal cord lipomas. J. Neurosurg., 1995, 82, 394-400.
-
(1995)
J. Neurosurg.
, vol.82
, pp. 394-400
-
-
Lee, M.1
Reza, A.R.2
Abbott, R.3
Coelho, D.H.4
Epstein, F.J.5
-
11
-
-
0027158498
-
Another case of spondylocostal dysplasia and severe anomalies
-
LIN A.E. and HARSTER G.A.: Another case of spondylocostal dysplasia and severe anomalies. Am. J. Med. Genet., 1993, 46, 476-477.
-
(1993)
Am. J. Med. Genet.
, vol.46
, pp. 476-477
-
-
Lin, A.E.1
Harster, G.A.2
-
12
-
-
0028029093
-
Segmentation anomalies of the vertebras and ribs: Developmental field defect: epidemiologic evidence
-
MARTINEZ-FRIAS M.L. and URIOSTE M.: Segmentation anomalies of the vertebras and ribs: developmental field defect: epidemiologic evidence. Am. J. Med. Genet., 1994, 49, 36-44.
-
(1994)
Am. J. Med. Genet.
, vol.49
, pp. 36-44
-
-
Martinez-Frias, M.L.1
Urioste, M.2
-
13
-
-
9844247893
-
Neuroembryology
-
OSKI F.A., DeANGELIS C.D., FEIGIN R.D., McMILLAN J.A. and WARSHAW J.B.(Eds.). Philadelphia, Lippincott
-
MENT L.R. and FISHMAN M.A.: Neuroembryology. In: OSKI F.A., DeANGELIS C.D., FEIGIN R.D., McMILLAN J.A. and WARSHAW J.B.(Eds.) Principles and Practice of Pediatrics. Philadelphia, Lippincott, 1994, 342-347.
-
(1994)
Principles and Practice of Pediatrics
, pp. 342-347
-
-
Ment, L.R.1
Fishman, M.A.2
-
14
-
-
0021926453
-
A new lethal chondrodysplasia with spondylocostal dysostosis, multiple internal anomalies and Dandy-Walker cyst
-
MOERMAN P., VANDENBERGHE K., FRYNS J.P., HASPESLAGH M. and LAUWERYNS J.M.: A new lethal chondrodysplasia with spondylocostal dysostosis, multiple internal anomalies and Dandy-Walker cyst. Clin. Genet., 1985, 27, 160-164.
-
(1985)
Clin. Genet.
, vol.27
, pp. 160-164
-
-
Moerman, P.1
Vandenberghe, K.2
Fryns, J.P.3
Haspeslagh, M.4
Lauweryns, J.M.5
-
15
-
-
0030064549
-
Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature
-
MORTIER G.R., LACHMAN R.S., BOCIAN M. and RIMION 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
Rimion, D.L.4
-
16
-
-
0026524452
-
Case of multivertebral anomalies, cloacal dysgenesis, and other anomalies presenting prenatally as cystic kidneys
-
MURR M.M., WAZIRI M.H., SCHELPER R.L. and ABU-YOUSELF 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
Abu-Youself, M.4
-
17
-
-
0020647114
-
Spondylocostal dysostosis. Report of 5 cases including siblings and atypical case
-
PFEIFFER R.A., HANSEN H.G., BOWING B. and TIETZE U.: Spondylocostal dysostosis. Report of 5 cases including siblings and atypical case. Monatsschr. Kinderheilkd., 1983, 131, 28-34.
-
(1983)
Monatsschr. Kinderheilkd.
, vol.131
, pp. 28-34
-
-
Pfeiffer, R.A.1
Hansen, H.G.2
Bowing, B.3
Tietze, U.4
-
18
-
-
0024541006
-
Neural defects in Jarcho-Levin syndrome
-
REYES M.G., MORALES A., HARRIS V., BARETTA T.M. and GOLDBRAG 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
Baretta, T.M.4
Goldbrag, H.5
-
19
-
-
0014365211
-
Spondylocostal dysplasia: A dominantly inherited form of short-trunked dwarfism
-
RIMOIN D.L., FLETCHER B.D. and McKUSICK V.A.: Spondylocostal dysplasia: a dominantly inherited form of short-trunked dwarfism. Am. J. Med., 1968, 45, 948-953.
-
(1968)
Am. J. Med.
, vol.45
, pp. 948-953
-
-
Rimoin, D.L.1
Fletcher, B.D.2
McKusick, V.A.3
-
20
-
-
0028055049
-
Spondylocostal dysostosis with perinatal death and meningomyelocele
-
RODRIGUEZ M.M., MEJIAS A. Jr., HAUN R.L., MATA M.B. and BRUCE J.H.: Spondylocostal dysostosis with perinatal death and meningomyelocele. Pediatr. Pathol., 1994, 14, 53-59.
-
(1994)
Pediatr. Pathol.
, vol.14
, pp. 53-59
-
-
Rodriguez, M.M.1
Mejias Jr., A.2
Haun, R.L.3
Mata, M.B.4
Bruce, J.H.5
-
21
-
-
0028846638
-
Looking for causes of neural tube defects: Where does the environment fit in
-
SEVER L.E.: Looking for causes of neural tube defects: where does the environment fit in. Environ Health. Perspect., 1995, 103 Suppl 6, 165-171.
-
(1995)
Environ Health. Perspect.
, vol.103
, Issue.6 SUPPL.
, pp. 165-171
-
-
Sever, L.E.1
-
22
-
-
0028913681
-
Epidemiology, etiologic factors, and prenatal diagnosis of open spinal dysraphism
-
SHURTLEFF D.B., and LEMIRE R.J.: Epidemiology, etiologic factors, and prenatal diagnosis of open spinal dysraphism. Neurosurg. Clin. N. Am., 1995, 6, 183-193.
-
(1995)
Neurosurg. Clin. N. Am.
, vol.6
, pp. 183-193
-
-
Shurtleff, D.B.1
Lemire, R.J.2
-
24
-
-
0026098704
-
Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis
-
TRUNPENNY P.D., THWAITES R.J. and BOULOS F.N.: Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis J. Med. Genet., 1991, 25, 27-33.
-
(1991)
J. Med. Genet.
, vol.25
, pp. 27-33
-
-
Trunpenny, P.D.1
Thwaites, R.J.2
Boulos, F.N.3
-
26
-
-
0021366021
-
Spondylocostal dysostosis
-
YOUNG I.D. and MOORE J.R.: Spondylocostal dysostosis. J. Med. Genet., 1984, 21, 68-69.
-
(1984)
J. Med. Genet.
, vol.21
, pp. 68-69
-
-
Young, I.D.1
Moore, J.R.2
-
27
-
-
0024691981
-
Arnold-Chiari malformation in Jarcho-Levin syndrome
-
YOUNG S., REYES M.G., UZOARU I.L. and HARRIS V.: Arnold-Chiari malformation in Jarcho-Levin syndrome. J. Child. Neurol., 1989, 4, 229-230.
-
(1989)
J. Child. Neurol.
, vol.4
, pp. 229-230
-
-
Young, S.1
Reyes, M.G.2
Uzoaru, I.L.3
Harris, V.4
|