-
1
-
-
0942276983
-
DEB test for Fanconi anemia detection in patients with atypical phenotypes
-
Esmer C, Sanchez S, Ramos S, et al. DEB test for Fanconi anemia detection in patients with atypical phenotypes. Am J Med Genet A. 2004;124A: 35-39.
-
(2004)
Am J Med Genet A.
, vol.124 A
, pp. 35-39
-
-
Esmer, C.1
Sanchez, S.2
Ramos, S.3
-
2
-
-
33747884104
-
Radial longitudinal deficiency: The incidence of associated medical and musculoskeletal conditions
-
Goldfarb CA, Wall L, Manske PR. Radial longitudinal deficiency: The incidence of associated medical and musculoskeletal conditions. J Hand Surg Am. 2006;31: 1176-1182.
-
(2006)
J Hand Surg Am.
, vol.31
, pp. 1176-1182
-
-
Goldfarb, C.A.1
Wall, L.2
Manske, P.R.3
-
3
-
-
79958032032
-
Incidence of Fanconi anemia in children with congenital thumb anomalies referred for diepoxybutane testing
-
Webb ML, Rosen H, Taghinia A, et al. Incidence of Fanconi anemia in children with congenital thumb anomalies referred for diepoxybutane testing. J Hand Surg. 2011;36A: 1052-1057.
-
(2011)
J Hand Surg.
, vol.36 A
, pp. 1052-1057
-
-
Webb, M.L.1
Rosen, H.2
Taghinia, A.3
-
4
-
-
77952600845
-
Susceptibility pathwaysinFanconi's anemia and breast cancer
-
D'Andrea AD. Susceptibility pathwaysinFanconi's anemia and breast cancer. N Eng J Med. 2010;362: 1909-1919.
-
(2010)
N Eng J Med.
, vol.362
, pp. 1909-1919
-
-
D'Andrea, A.D.1
-
5
-
-
67650490578
-
The Fanconi anemia/BRCA gene network in zebrafish: Embryonic expression and comparative genomics
-
Titus TA, Yan YL, Wilson C, et al. The Fanconi anemia/BRCA gene network in zebrafish: embryonic expression and comparative genomics. Mutat Res. 2009;31: 117-132.
-
(2009)
Mutat Res.
, vol.31
, pp. 117-132
-
-
Titus, T.A.1
Yan, Y.L.2
Wilson, C.3
-
7
-
-
0037488242
-
Mutations of the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes including Okihiro syndrome, Holt-Oram syndrome, acro-renal-occular syndrome and patients previously reported to represent thalidomide embryopathy
-
Kohlhase J, Schubert L, Liebers M, et al Mutations of the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes including Okihiro syndrome, Holt-Oram syndrome, acro-renal-occular syndrome and patients previously reported to represent thalidomide embryopathy. J Med Genet. 2003;40: 473-478.
-
(2003)
J Med Genet.
, vol.40
, pp. 473-478
-
-
Kohlhase, J.1
Schubert, L.2
Liebers, M.3
-
8
-
-
79952824247
-
WNT pathways and upper limb anomalies
-
Al-Qattan MM. WNT pathways and upper limb anomalies. J Hand Surg Eur. 2011;36: 9-22.
-
(2011)
J Hand Surg Eur.
, vol.36
, pp. 9-22
-
-
Al-Qattan, M.M.1
-
9
-
-
74049161282
-
A specific mutation in the distant Sonic Hedghog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas-type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb
-
Wieczorek D, Pawlik B, Li Y, et al. A specific mutation in the distant Sonic Hedghog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas-type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb. Hum Mutat. 2010;31: 81-89.
-
(2010)
Hum Mutat.
, vol.31
, pp. 81-89
-
-
Wieczorek, D.1
Pawlik, B.2
Li, Y.3
-
10
-
-
78649955432
-
Dorsal dimelia: Report of two cases with an emphasis on the variation of phenotypic expression and search for candidate causative genes
-
Al-Qattan MM, Al Mazyad M, Shamseldin H, et al. Dorsal dimelia: report of two cases with an emphasis on the variation of phenotypic expression and search for candidate causative genes. J Hand Surg Eur. 2010;35: 715-720.
-
(2010)
J Hand Surg Eur.
, vol.35
, pp. 715-720
-
-
Al-Qattan, M.M.1
Al Mazyad, M.2
Shamseldin, H.3
-
13
-
-
0028569704
-
Sonic hedgehog and FGF4 act through a signaling cascade and feedback loop to integrate growth and patterning of the development limb bud
-
Laufer E, Nelson CE, Johnson RL, et al. Sonic hedgehog and FGF4 act through a signaling cascade and feedback loop to integrate growth and patterning of the development limb bud. Cell. 1994;79: 993-1003.
-
(1994)
Cell.
, vol.79
, pp. 993-1003
-
-
Laufer, E.1
Nelson, C.E.2
Johnson, R.L.3
-
14
-
-
0028149891
-
A positive feedback loop coordinates growth and patterning in the vertebrate limb
-
Niswander L, Jeffrey S, Martin GR, et al. A positive feedback loop coordinates growth and patterning in the vertebrate limb. Nature. 1994;371: 609-612.
-
(1994)
Nature.
, vol.371
, pp. 609-612
-
-
Niswander, L.1
Jeffrey, S.2
Martin, G.R.3
-
15
-
-
33749418946
-
Differential regulation of gene expression in the digit forming area of the mouse limb bud by SHH and gremlin 1/FGF mediated epithelial-mesenchymal signaling
-
Panman L, Galli A, Lagarde N, et al. Differential regulation of gene expression in the digit forming area of the mouse limb bud by SHH and gremlin 1/FGF mediated epithelial-mesenchymal signaling. Development. 2006;133: 3419-3428.
-
(2006)
Development.
, vol.133
, pp. 3419-3428
-
-
Panman, L.1
Galli, A.2
Lagarde, N.3
-
16
-
-
31744444444
-
Cooperative and antagonistic interactions between SALL 4 and TBX5 pattern the mouse limb and heart
-
Koshiba-Takeuchi K, Takeuchi JK, Arruda EP, et al. Cooperative and antagonistic interactions between SALL 4 and TBX5 pattern the mouse limb and heart. Nat Genet. 2006;38: 175-183.
-
(2006)
Nat Genet.
, vol.38
, pp. 175-183
-
-
Koshiba-Takeuchi, K.1
Takeuchi, J.K.2
Arruda, E.P.3
-
18
-
-
0036862397
-
Growth arrest specific gene 1 acts as a region-specific mediator of the FGF10/FGF8 regulatory loop in the limb
-
Liu Y, Liu C, Yamada Y, et al. Growth arrest specific gene 1 acts as a region-specific mediator of the FGF10/FGF8 regulatory loop in the limb. Development. 2002;129: 5289-5300.
-
(2002)
Development.
, vol.129
, pp. 5289-5300
-
-
Liu, Y.1
Liu, C.2
Yamada, Y.3
-
19
-
-
0033386886
-
FGF10 can induce Fgf8 expression con-comitantly with En1 and R-fng expressioninchick limb ectoderm, independent of is dorso-ventral specification
-
Ohuchi H, Nakagawa T, Itoh N, et al. FGF10 can induce Fgf8 expression con-comitantly with En1 and R-fng expressioninchick limb ectoderm, independent of is dorso-ventral specification. Dev Growth Differ. 1999;41: 665-673.
-
(1999)
Dev Growth Differ.
, vol.41
, pp. 665-673
-
-
Ohuchi, H.1
Nakagawa, T.2
Itoh, N.3
-
20
-
-
65449118808
-
Congenital duplication of the palm syndrome: Gene analysis and the molecular basis of its clinical features
-
Al-Qattan MM, Al-Balwi M, Eyaid W, et al. Congenital duplication of the palm syndrome: gene analysis and the molecular basis of its clinical features. J Hand Surg Eur. 2009;34: 247-251.
-
(2009)
J Hand Surg Eur.
, vol.34
, pp. 247-251
-
-
Al-Qattan, M.M.1
Al-Balwi, M.2
Eyaid, W.3
-
21
-
-
33747163997
-
SALL4 is directly activated by TCF/LEF in the canonical WNT signaling pathway
-
Bohm J, Sustmann C, Wilhelm C, et al. SALL4 is directly activated by TCF/LEF in the canonical WNT signaling pathway. Biochem Biophys Res Commun. 2006;348: 898-907.
-
(2006)
Biochem Biophys Res Commun.
, vol.348
, pp. 898-907
-
-
Bohm, J.1
Sustmann, C.2
Wilhelm, C.3
-
22
-
-
67650730263
-
LIM homeobox transcription factors integrate signaling events that control three dimensional limb pattering and growth
-
Tzchori I, Day TF, Carolan PJ, et al. LIM homeobox transcription factors integrate signaling events that control three dimensional limb pattering and growth. Development. 2009;136: 1375-1385.
-
(2009)
Development.
, vol.136
, pp. 1375-1385
-
-
Tzchori, I.1
Day, T.F.2
Carolan, P.J.3
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