-
2
-
-
0027831551
-
Syndactylies and polydactylies: Embryological overview and suggested classification
-
Winter, R.M. and Tickle, C. (1993) Syndactylies and polydactylies: embryological overview and suggested classification, Eur. J. Hum. Genet. 1,96-104
-
(1993)
Eur. J. Hum. Genet.
, vol.1
, pp. 96-104
-
-
Winter, R.M.1
Tickle, C.2
-
3
-
-
0031832082
-
Limbs are moving: Where are they going?
-
Schwabe, J.W.R. et al. (1998) Limbs are moving: where are they going? Trends Genet. 14, 229-235
-
(1998)
Trends Genet.
, vol.14
, pp. 229-235
-
-
Schwabe, J.W.R.1
-
4
-
-
0031956847
-
Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates
-
Jabs, E.W. (1998) Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates. Clin. Genet. 53, 79-86
-
(1998)
Clin. Genet.
, vol.53
, pp. 79-86
-
-
Jabs, E.W.1
-
5
-
-
0031672928
-
The role of Alx-4 in the establishment of anteroposterior polarity during vertebrate limb development
-
Takahashi, M. et al. (1998) The role of Alx-4 in the establishment of anteroposterior polarity during vertebrate limb development. Development 125, 4417-4425
-
(1998)
Development
, vol.125
, pp. 4417-4425
-
-
Takahashi, M.1
-
6
-
-
0032589650
-
Gli3 (Xt) and formin (Id) participate in the positioning of the polarising region and control of posterior limb-bud identity
-
Zuniga, A. and Zeller, R. (1999) Gli3 (Xt) and formin (Id) participate in the positioning of the polarising region and control of posterior limb-bud identity. Development 126, 13-21
-
(1999)
Development
, vol.126
, pp. 13-21
-
-
Zuniga, A.1
Zeller, R.2
-
7
-
-
0031899912
-
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly
-
Vargas, F.R. et al. (1998) Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly. Hum. Genet. 102, 387-392
-
(1998)
Hum. Genet.
, vol.102
, pp. 387-392
-
-
Vargas, F.R.1
-
8
-
-
0032961403
-
Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36
-
Zguricas, J. et al. (1999) Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36. J. Med. Genet. 36, 32-40
-
(1999)
J. Med. Genet.
, vol.36
, pp. 32-40
-
-
Zguricas, J.1
-
9
-
-
0031745167
-
Limb development: Molecular dysmorphology is at hand
-
Innis, J.W. and Mortlock, O.P. (1998) Limb development: molecular dysmorphology is at hand. Clin. Genet. 53, 337-348
-
(1998)
Clin. Genet.
, vol.53
, pp. 337-348
-
-
Innis, J.W.1
Mortlock, O.P.2
-
10
-
-
0029750190
-
Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein
-
Vortkamp,A. et al. (1996) Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein. Science 273, 613-622
-
(1996)
Science
, vol.273
, pp. 613-622
-
-
Vortkamp, A.1
-
11
-
-
0031592431
-
A new face of an old syndrome
-
Kelley, R.I. (1997) A new face of an old syndrome. Am. J. Med. Genet. 65, 251-256
-
(1997)
Am. J. Med. Genet.
, vol.65
, pp. 251-256
-
-
Kelley, R.I.1
-
12
-
-
12844276949
-
Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident
-
Wicking, C. et al. (1997) Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. Am. J. Hum. Genet. 60, 21-26
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 21-26
-
-
Wicking, C.1
-
13
-
-
0030680207
-
Strike three for GLI3
-
Biesecker, LG. (1997) Strike three for GLI3. Hat Genet. 17, 259-260
-
(1997)
Hat Genet.
, vol.17
, pp. 259-260
-
-
Biesecker, L.G.1
-
14
-
-
0030856204
-
Point mutations in human GLI3 cause Greig syndrome
-
Wild, A. et al. (1997) Point mutations in human GLI3 cause Greig syndrome. Hum. Mol. Genet. 6, 1979-1984
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1979-1984
-
-
Wild, A.1
-
15
-
-
0031019090
-
GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome
-
Kang, S. et al. (1997) GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat. Genet. 15, 266-268
-
(1997)
Nat. Genet.
, vol.15
, pp. 266-268
-
-
Kang, S.1
-
16
-
-
0031279063
-
Mutation in GLI3 in postaxial polydactylytypeA
-
Radhakrishna, U. et al. (1997) Mutation in GLI3 in postaxial polydactylytypeA. Hat Genet. 17, 269-271
-
(1997)
Hat Genet.
, vol.17
, pp. 269-271
-
-
Radhakrishna, U.1
-
17
-
-
0029022770
-
Rubinstein-Taybi syndrome caused by mutations inthetranscriptional co-activator CBP
-
Petrij, F. et al. (1995) Rubinstein-Taybi syndrome caused by mutations inthetranscriptional co-activator CBP. Nature 36, 348-351
-
(1995)
Nature
, vol.36
, pp. 348-351
-
-
Petrij, F.1
-
18
-
-
0031747153
-
Limb and kidney defects in Lmxlb mutant mice suggest an involvement of LMX1B in human nail patella syndrome
-
Chen, H. et al. (1998) Limb and kidney defects in Lmxlb mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nat. Genet. 19,51-55
-
(1998)
Nat. Genet.
, vol.19
, pp. 51-55
-
-
Chen, H.1
-
19
-
-
0031800728
-
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
-
Dreyer, S.D.D. et al. (1998) Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet. 19, 47-50
-
(1998)
Nat Genet.
, vol.19
, pp. 47-50
-
-
Dreyer, S.D.D.1
-
20
-
-
0031750061
-
Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome
-
Vollrath, D. et al. (1998) Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. Hum. Mol. Genet. 7, 1091-1098
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1091-1098
-
-
Vollrath, D.1
-
21
-
-
0032471924
-
Mutation analysis of LMX1B gene in nail-patella syndrome patients
-
Mclntosh, I. et al. (1998) Mutation analysis of LMX1B gene in nail-patella syndrome patients. Am. J. Hum. Genet. 63, 1651-1658
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 1651-1658
-
-
Mclntosh, I.1
-
22
-
-
0030636780
-
Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome
-
Basson, C.T. et al. (1997) Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome. Nat. Genet. 15, 30-35
-
(1997)
Nat. Genet.
, vol.15
, pp. 30-35
-
-
Basson, C.T.1
-
23
-
-
1842413728
-
Holt-Oram syndrome is caused by mutations inTBXS, a member of the Brachyury (T) gene family
-
Li, Q.Y. et al. (1997) Holt-Oram syndrome is caused by mutations inTBXS, a member of the Brachyury (T) gene family. Nat Genet. 15, 21-29
-
(1997)
Nat Genet.
, vol.15
, pp. 21-29
-
-
Li, Q.Y.1
-
24
-
-
0030986873
-
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome
-
Bamshad, M. et al. (1997) Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat Genet. 16, 311-315
-
(1997)
Nat Genet.
, vol.16
, pp. 311-315
-
-
Bamshad, M.1
-
25
-
-
0028610388
-
Cinical identification of a human equivalent to the short ear (se) murine phenotype
-
Lacombe, D. et al. (1996) Cinical identification of a human equivalent to the short ear (se) murine phenotype. Ann. Genet. 37,184-191
-
(1996)
Ann. Genet.
, vol.37
, pp. 184-191
-
-
Lacombe, D.1
-
26
-
-
0032577276
-
Noggin, cartilage morphogenesis and joint formation in the mammalian skeleton
-
Brunei, L.J. (1998) Noggin, cartilage morphogenesis and joint formation in the mammalian skeleton. Science 2, 1455-1457
-
(1998)
Science
, vol.2
, pp. 1455-1457
-
-
Brunei, L.J.1
-
27
-
-
0033052269
-
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
-
Gong, Y. et al. (1999) Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat. Genet. 21, 302-304
-
(1999)
Nat. Genet.
, vol.21
, pp. 302-304
-
-
Gong, Y.1
-
28
-
-
0029936784
-
A human chondrodysplasiadueto mutation in a TGF-beta superfamily member
-
Thomas, J.T. et al. (1996) A human chondrodysplasiadueto mutation in a TGF-beta superfamily member. Nat. Genet. 12, 315-317
-
(1996)
Nat. Genet.
, vol.12
, pp. 315-317
-
-
Thomas, J.T.1
-
29
-
-
0024577440
-
A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type
-
Langer, L.O. et al. (1989) A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type. Hum. Genet. 81, 323-328
-
(1989)
Hum. Genet.
, vol.81
, pp. 323-328
-
-
Langer, L.O.1
-
30
-
-
0032231477
-
Acromesomelic dysplasia Maroteaux type maps to human chromosome 9
-
Kant, S.G. et al. (1998) Acromesomelic dysplasia Maroteaux type maps to human chromosome 9. Am. J. Med. Genet. 63, 155-162
-
(1998)
Am. J. Med. Genet.
, vol.63
, pp. 155-162
-
-
Kant, S.G.1
-
31
-
-
0032539652
-
Grebe syndrome: Clinical and radiographie findings in affected individuals and heterozygous carriers
-
Costa, T. et al. (1998) Grebe syndrome: clinical and radiographie findings in affected individuals and heterozygous carriers. Am. J. Med. Genet. 75, 523-529
-
(1998)
Am. J. Med. Genet.
, vol.75
, pp. 523-529
-
-
Costa, T.1
-
32
-
-
0030763771
-
Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1
-
Thomas, J.T. et al. (1997) Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. Nat. Genet. 17, 58-64
-
(1997)
Nat. Genet.
, vol.17
, pp. 58-64
-
-
Thomas, J.T.1
-
33
-
-
0031230465
-
Mutations in CDMP1 cause autosomal dominant brachydactylytype C
-
Polinkovsky, A. et al. (1997) Mutations in CDMP1 cause autosomal dominant brachydactylytype C. Nat. Genet. 17, 18-19
-
(1997)
Nat. Genet.
, vol.17
, pp. 18-19
-
-
Polinkovsky, A.1
-
34
-
-
0030588589
-
Brachydactylytype C gene maps to chromosome 12q24
-
Polymeropoulos, M.H. et al. (1996) Brachydactylytype C gene maps to chromosome 12q24. Genomics 38, 45-50
-
(1996)
Genomics
, vol.38
, pp. 45-50
-
-
Polymeropoulos, M.H.1
-
35
-
-
0033069441
-
Brachydactylytype B: Linkage to chromosome 9q22 and evidence for genetic heterogeneity
-
Oldridge, M. et al. (1999) Brachydactylytype B: linkage to chromosome 9q22 and evidence for genetic heterogeneity. Am. J. Med. Genet. 64, 578-585
-
(1999)
Am. J. Med. Genet.
, vol.64
, pp. 578-585
-
-
Oldridge, M.1
-
36
-
-
0033073979
-
Brachydactylytype B: Clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation
-
Gong, Y. et al. (1999) Brachydactylytype B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation. Am. J. Med. Genet. 64, 570-577
-
(1999)
Am. J. Med. Genet.
, vol.64
, pp. 570-577
-
-
Gong, Y.1
-
37
-
-
0031963876
-
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
-
Kohlhase, J. et al. (1998) Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat. Genet. 18, 81-83
-
(1998)
Nat. Genet.
, vol.18
, pp. 81-83
-
-
Kohlhase, J.1
-
38
-
-
0029871929
-
Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13
-
Muragaki, Y. et al. (1996) Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 272,548-551
-
(1996)
Science
, vol.272
, pp. 548-551
-
-
Muragaki, Y.1
-
39
-
-
0030035153
-
Genomic structure of HOXD13 gene: A nine polyalanine duplication causes synpolydactyly in two unrelated families
-
Akarsu, Y. et al. (1996) Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. Hum. Mol. Genet. 5, 945-952
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 945-952
-
-
Akarsu, Y.1
-
40
-
-
12644284524
-
Synpolydactyly phenotypes correlate with size of expansions in HOXd13 polyalanine tract
-
Goodman, F.R. et al. (1997) Synpolydactyly phenotypes correlate with size of expansions in HOXd13 polyalanine tract. Proc. Natl. Acad. Sci. U. S. A. 94, 7458-7463
-
(1997)
Proc. Natl. Acad. Sci. U. S. A.
, vol.94
, pp. 7458-7463
-
-
Goodman, F.R.1
-
41
-
-
0031015410
-
Polyalanine expansion in synpolydactyly might result from unequal crossing-over of Hoxd13
-
Warren, S.T. (1997) Polyalanine expansion in synpolydactyly might result from unequal crossing-over of Hoxd13. Science 275, 408-409
-
(1997)
Science
, vol.275
, pp. 408-409
-
-
Warren, S.T.1
-
42
-
-
0031833055
-
A new spontaneous mouse mutation of HoxdlS with a polyalanine expansion and phenotype similar to human synpolydactyly
-
Johnson, K.R. et al. (1998) A new spontaneous mouse mutation of HoxdlS with a polyalanine expansion and phenotype similar to human synpolydactyly. Hum. Mol. Genet. 7, 1033-1038
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1033-1038
-
-
Johnson, K.R.1
-
43
-
-
0032231318
-
Deletions in HOXd13 segregate with an identical, novel foot malformation in two unrelated families
-
Goodman, F. et al. (1998) Deletions in HOXd13 segregate with an identical, novel foot malformation in two unrelated families. Am. 1. Hum. Genet. 63, 992-1000
-
(1998)
Am. 1. Hum. Genet.
, vol.63
, pp. 992-1000
-
-
Goodman, F.1
-
44
-
-
0031050961
-
Mutation of HOXA13 in Hand-foot-genital syndrome
-
Mortlock, D.P. and Innis, J.W. (1997) Mutation of HOXA13 in Hand-foot-genital syndrome. Nat. Genet. 15, 179-180
-
(1997)
Nat. Genet.
, vol.15
, pp. 179-180
-
-
Mortlock, D.P.1
Innis, J.W.2
|