-
1
-
-
0019870232
-
Triad of anorectal, sacral, and presacral anomalies
-
Currarino, G., Coln, D., & Votteler, T. Triad of anorectal, sacral, and presacral anomalies, Am. J. Roentgenol. 137, 395-398 (1981).
-
(1981)
Am. J. Roentgenol.
, vol.137
, pp. 395-398
-
-
Currarino, G.1
Coln, D.2
Votteler, T.3
-
2
-
-
0029115664
-
A gene for autosomal dominant sacral agenesis maps to the holoprosencephanly region at 7q36
-
Lynch, S.A. et al. A gene for autosomal dominant sacral agenesis maps to the holoprosencephanly region at 7q36. Nature Genet. 11, 93-95 (1995).
-
(1995)
Nature Genet.
, vol.11
, pp. 93-95
-
-
Lynch, S.A.1
-
3
-
-
0024553655
-
Does lumbosacral spina bifida arise by failure of neural folding or by defective canalisation?
-
Copp, A.J. & Brook, F.A. Does lumbosacral spina bifida arise by failure of neural folding or by defective canalisation? J. Med. Genet. 26, 160-166 (1989).
-
(1989)
J. Med. Genet.
, vol.26
, pp. 160-166
-
-
Copp, A.J.1
Brook, F.A.2
-
4
-
-
0029164902
-
The role of the notochord and floor plate in inductive interactions
-
Placzek, M. The role of the notochord and floor plate in inductive interactions. Curr. Opin. Genet. Dev. 5, 499-506 (1995).
-
(1995)
Curr. Opin. Genet. Dev.
, vol.5
, pp. 499-506
-
-
Placzek, M.1
-
5
-
-
0026676284
-
Two diverged human homeobox genes involved in the differentiation of human hematopoietic progenitors map to chromosome-1, bands-q41-42.1
-
Najfeld, V. et al. Two diverged human homeobox genes involved in the differentiation of human hematopoietic progenitors map to chromosome-1, bands-q41-42.1. Genes Chromosomes Cancer 5, 343-347 (1992).
-
(1992)
Genes Chromosomes Cancer
, vol.5
, pp. 343-347
-
-
Najfeld, V.1
-
6
-
-
0027930393
-
A novel human homeobox gene distantly related to proboscipedia is expressed in lymphoid and pancreatic tissues
-
Harrison, K.A., Druey, K.M., Deguchi, Y., Tuscano, J.M. & Kehrl, J.H. A novel human homeobox gene distantly related to proboscipedia is expressed in lymphoid and pancreatic tissues. J. Biol. Chem. 269, 19968-19975 (1994).
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 19968-19975
-
-
Harrison, K.A.1
Druey, K.M.2
Deguchi, Y.3
Tuscano, J.M.4
Kehrl, J.H.5
-
7
-
-
0023299591
-
En-1 and En-2, two mouse genes with sequence homology to the Drosophila engrailed gene: Expression during embryogenesis
-
Joyner, A.L. & Martin, G.R. En-1 and En-2, two mouse genes with sequence homology to the Drosophila engrailed gene: expression during embryogenesis. Genes Dev. 1, 29-38 (1987).
-
(1987)
Genes Dev.
, vol.1
, pp. 29-38
-
-
Joyner, A.L.1
Martin, G.R.2
-
8
-
-
16144368562
-
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly
-
Belloni, E. et al. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nature Genet. 14, 353-356 (1996).
-
(1996)
Nature Genet.
, vol.14
, pp. 353-356
-
-
Belloni, E.1
-
9
-
-
0030294408
-
Mutations in the human Sonic hedgehog gene cause holoprosencephaly
-
Roessler, E. et al. Mutations in the human Sonic hedgehog gene cause holoprosencephaly. Nature Genet. 14, 357-360 (1996).
-
(1996)
Nature Genet.
, vol.14
, pp. 357-360
-
-
Roessler, E.1
-
10
-
-
0030729082
-
Mutations in the carboxy-terminal domain of Sonic hedgehog cause holoprosencephaly
-
Roessler, E. et al. Mutations in the carboxy-terminal domain of Sonic hedgehog cause holoprosencephaly. Hum. Mol. Genet. 6, 1847-1853 (1997).
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1847-1853
-
-
Roessler, E.1
-
11
-
-
0029777408
-
Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
-
Chiang, C. et al. Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature 383, 407-413 (1996).
-
(1996)
Nature
, vol.383
, pp. 407-413
-
-
Chiang, C.1
-
12
-
-
0031899912
-
Analysis of the human Sonic hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly
-
Vargas, F.R. et al. Analysis of the human Sonic hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly. Hum. Genet. 102, 387-392 (1998).
-
(1998)
Hum. Genet.
, vol.102
, pp. 387-392
-
-
Vargas, F.R.1
-
13
-
-
0030875636
-
Dorsal-ventral patterning during neural induction in Xenopus: Assessment of spinal cord regionalization with xHLXB9, a marker for the motor neuron region
-
Saha, M.S., Miles, R.R. & Grainger, R.M. Dorsal-ventral patterning during neural induction in Xenopus: Assessment of spinal cord regionalization with xHLXB9, a marker for the motor neuron region. Dev. Biol. 187, 209-223 (1997).
-
(1997)
Dev. Biol.
, vol.187
, pp. 209-223
-
-
Saha, M.S.1
Miles, R.R.2
Grainger, R.M.3
-
14
-
-
0029909850
-
Currarino triad with a terminal deletion 7q35-qter
-
Masuno, M. et al. Currarino triad with a terminal deletion 7q35-qter. J. Med. Genet. 33, 877-878 (1996).
-
(1996)
J. Med. Genet.
, vol.33
, pp. 877-878
-
-
Masuno, M.1
-
15
-
-
0027238926
-
Holoprosencephaly and sacral agensis in a fetus with a terminal deletion 7q36-7qter
-
Morichon-Delvallez, N., Delezoide, A.L. & Vekemans, M. Holoprosencephaly and sacral agensis in a fetus with a terminal deletion 7q36-7qter. J. Med. Gent. 30, 521-524 (1997).
-
(1997)
J. Med. Gent.
, vol.30
, pp. 521-524
-
-
Morichon-Delvallez, N.1
Delezoide, A.L.2
Vekemans, M.3
-
16
-
-
0030876204
-
Isolated sacral agenesis in a fetus monosomic for 7q36.1-qter
-
Savage, N.M., Maclachlan, N.A., Joyce, C.A., Moore, I.E. & Crolla, J.A. Isolated sacral agenesis in a fetus monosomic for 7q36.1-qter. J. Med. Genet. 34, 866-868 (1997).
-
(1997)
J. Med. Genet.
, vol.34
, pp. 866-868
-
-
Savage, N.M.1
Maclachlan, N.A.2
Joyce, C.A.3
Moore, I.E.4
Crolla, J.A.5
-
17
-
-
17344364005
-
Short polyalanine expansion: A new class of triplet repeat disorder
-
Anonymous. Short polyalanine expansion: a new class of triplet repeat disorder. Clin. Genet. 53, 333-334 (1998).
-
(1998)
Clin. Genet.
, vol.53
, pp. 333-334
-
-
-
18
-
-
0027154059
-
Sacral agenesis and caudal spinal malformations
-
Pang, D. Sacral agenesis and caudal spinal malformations. Neurosurg. 32, 755-778 (1993).
-
(1993)
Neurosurg.
, vol.32
, pp. 755-778
-
-
Pang, D.1
-
19
-
-
0028865448
-
Lumbosacral agenesis: Clinical characteristics, imaging and embryogenesis
-
Harlow, C.L., Partington, M.D. & Thieme, G.A. Lumbosacral agenesis: clinical characteristics, imaging and embryogenesis. Pediatr. Neurosurg. 23, 140-147 (1995).
-
(1995)
Pediatr. Neurosurg.
, vol.23
, pp. 140-147
-
-
Harlow, C.L.1
Partington, M.D.2
Thieme, G.A.3
-
20
-
-
0027249576
-
Case reports of malformations associated with maternal diabetes: History and critique
-
Kalter, H. Case reports of malformations associated with maternal diabetes: history and critique. Clin. Genet. 43, 174-179 (1993).
-
(1993)
Clin. Genet.
, vol.43
, pp. 174-179
-
-
Kalter, H.1
-
21
-
-
0030716476
-
Limb, genital, CNS, and facial malformations result from gene/environment-induced cholesterol deficiency: Further evidence for a link to sonic hedgehog
-
Lanoue, L. et al. Limb, genital, CNS, and facial malformations result from gene/environment-induced cholesterol deficiency: further evidence for a link to sonic hedgehog. Am. J. Med. Genet. 73, 24-31 (1997).
-
(1997)
Am. J. Med. Genet.
, vol.73
, pp. 24-31
-
-
Lanoue, L.1
-
22
-
-
0025729950
-
Hereditary sacral agenesis with presacral mass and anorectal stenosis: The Currarino Triad
-
O'Riordain, D.S., O'Connell, P.R. & Kirwan, W.O. Hereditary sacral agenesis with presacral mass and anorectal stenosis: the Currarino Triad. Br. J. Surg. 78, 536-538 (1991).
-
(1991)
Br. J. Surg.
, vol.78
, pp. 536-538
-
-
O'Riordain, D.S.1
O'Connell, P.R.2
Kirwan, W.O.3
-
23
-
-
0026683170
-
Partial sacral agenesis with constipation: A report of one family
-
Hardwicke, R.J., Onikul, E., De Silva, M., Glasson, M.J. & Gaskin, K.J. Partial sacral agenesis with constipation: a report of one family. J. Paediatr. Child Health 28, 328-330 (1992).
-
(1992)
J. Paediatr. Child Health
, vol.28
, pp. 328-330
-
-
Hardwicke, R.J.1
Onikul, E.2
De Silva, M.3
Glasson, M.J.4
Gaskin, K.J.5
-
24
-
-
0026556417
-
Anomalies du sacrum et deficit de fermeture du tube neural manifestations differentes d'une meme maladie genetique?
-
Vargas, E.C. et al. Anomalies du sacrum et deficit de fermeture du tube neural manifestations differentes d'une meme maladie genetique? Pediatrie 47, 273-277 (1992).
-
(1992)
Pediatrie
, vol.47
, pp. 273-277
-
-
Vargas, E.C.1
-
25
-
-
0028243574
-
A complex bilateral polysyndactyly disease locus maps to 7q36
-
Tsukurov, O. et al. A complex bilateral polysyndactyly disease locus maps to 7q36. Nature Genet. 6, 282-286 (1994).
-
(1994)
Nature Genet.
, vol.6
, pp. 282-286
-
-
Tsukurov, O.1
-
26
-
-
0343797516
-
Establishing new human embryo collections for documenting gene expression in early human development
-
BIOS Scientific Publishers. Oxford
-
Bullen, P., Robson, S.C. & Strachan, T. Establishing new human embryo collections for documenting gene expression in early human development, in Molecular Genetics of Early Human Development (BIOS Scientific Publishers. Oxford, 1997).
-
(1997)
Molecular Genetics of Early Human Development
-
-
Bullen, P.1
Robson, S.C.2
Strachan, T.3
-
27
-
-
0031941080
-
A novel mammalian Wnt gene, WNT8B, shows brain-restricted expression in early development, with sharply delimited expression boundaries in the developing brain
-
Lako, M., et al. A novel mammalian Wnt gene, WNT8B, shows brain-restricted expression in early development, with sharply delimited expression boundaries in the developing brain. Hum. Molec. Genet. 7, 813-822 (1998).
-
(1998)
Hum. Molec. Genet.
, vol.7
, pp. 813-822
-
-
Lako, M.1
-
28
-
-
0030298335
-
Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: A possible contributor to the holoprosencephaly 3 phenotype
-
Mackay, M. et al. Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: a possible contributor to the holoprosencephaly 3 phenotype. Genomics 37, 345-353 (1996).
-
(1996)
Genomics
, vol.37
, pp. 345-353
-
-
Mackay, M.1
|