-
1
-
-
0019870232
-
Triad of anorectal, sacral, and presacral anomalies
-
Currarino G., Coln D., and Votteler T. Triad of anorectal, sacral, and presacral anomalies. AJR Am J Roentgenol. 137 (1981) 395-398
-
(1981)
AJR Am J Roentgenol.
, vol.137
, pp. 395-398
-
-
Currarino, G.1
Coln, D.2
Votteler, T.3
-
2
-
-
29744459199
-
HLXB9 and sacral agenesis and the Currarino syndrome
-
Epstein C.J., Erickson R.P., and Wynshaw-Boris A. (Eds), Oxford University Press, New York
-
Scherer S., Martucciello G., Belloni E., et al. HLXB9 and sacral agenesis and the Currarino syndrome. In: Epstein C.J., Erickson R.P., and Wynshaw-Boris A. (Eds). Inborn errors of development, the molecular basis of clinical disorders of morphogenesis (2004), Oxford University Press, New York 578-587
-
(2004)
Inborn errors of development, the molecular basis of clinical disorders of morphogenesis
, pp. 578-587
-
-
Scherer, S.1
Martucciello, G.2
Belloni, E.3
-
3
-
-
0033852321
-
Autosomal dominant sacral agenesis: Currarino syndrome
-
Lynch S.A., Wang Y., Strachan T., et al. Autosomal dominant sacral agenesis: Currarino syndrome. J Med Genet 37 (2000) 561-566
-
(2000)
J Med Genet
, vol.37
, pp. 561-566
-
-
Lynch, S.A.1
Wang, Y.2
Strachan, T.3
-
4
-
-
0033625433
-
Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene
-
Hagan D.M., Ross A.J., Strachan T., et al. Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. Am J Hum Genet. 66 (2000) 1504-1515
-
(2000)
Am J Hum Genet.
, vol.66
, pp. 1504-1515
-
-
Hagan, D.M.1
Ross, A.J.2
Strachan, T.3
-
5
-
-
0033926438
-
Involvement of the HLXB9 homeobox gene in Currarino syndrome
-
Belloni E., Martucciello G., Verderio D., et al. Involvement of the HLXB9 homeobox gene in Currarino syndrome. Am J Hum Genet. 66 (2000) 312-319
-
(2000)
Am J Hum Genet.
, vol.66
, pp. 312-319
-
-
Belloni, E.1
Martucciello, G.2
Verderio, D.3
-
6
-
-
0029115664
-
A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36
-
Lynch S.A., Bond P.M., Copp A.J., et al. A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. Nat Genet. 11 (1995) 93-95
-
(1995)
Nat Genet.
, vol.11
, pp. 93-95
-
-
Lynch, S.A.1
Bond, P.M.2
Copp, A.J.3
-
7
-
-
17344363829
-
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis
-
Ross A.J., Ruiz-Perez V., Wang Y., et al. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet. 20 (1998) 358-361
-
(1998)
Nat Genet.
, vol.20
, pp. 358-361
-
-
Ross, A.J.1
Ruiz-Perez, V.2
Wang, Y.3
-
8
-
-
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., et al. A novel human homeobox gene distantly related to proboscipedia is expressed in lymphoid and pancreatic tissues. J Biol Chem. 269 (1994) 19968-19975
-
(1994)
J Biol Chem.
, vol.269
, pp. 19968-19975
-
-
Harrison, K.A.1
Druey, K.M.2
Deguchi, Y.3
-
9
-
-
0032844643
-
Selective agenesis of the dorsal pancreas in mice lacking homeobox gene Hlxb9
-
Li H., Arber S., Jessell T.M., et al. Selective agenesis of the dorsal pancreas in mice lacking homeobox gene Hlxb9. Nat Genet. 23 (1999) 67-70
-
(1999)
Nat Genet.
, vol.23
, pp. 67-70
-
-
Li, H.1
Arber, S.2
Jessell, T.M.3
-
10
-
-
0033179908
-
Active suppression of interneuron programs within developing motor neurons revealed by analysis of homeodomain factor HB9
-
Thaler J., Harrison K., Sharma K., et al. Active suppression of interneuron programs within developing motor neurons revealed by analysis of homeodomain factor HB9. Neuron 23 (1999) 675-687
-
(1999)
Neuron
, vol.23
, pp. 675-687
-
-
Thaler, J.1
Harrison, K.2
Sharma, K.3
-
11
-
-
0033180516
-
Requirement for the homeobox gene Hb9 in the consolidation of motor neuron identity
-
Arber S., Han B., Mendelsohn M., et al. Requirement for the homeobox gene Hb9 in the consolidation of motor neuron identity. Neuron 23 (1999) 659-674
-
(1999)
Neuron
, vol.23
, pp. 659-674
-
-
Arber, S.1
Han, B.2
Mendelsohn, M.3
-
13
-
-
10744223971
-
Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains
-
Lavoie H., Debeane F., Trinh Q.D., et al. Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains. Hum Mol Genet. 12 (2003) 2967-2979
-
(2003)
Hum Mol Genet.
, vol.12
, pp. 2967-2979
-
-
Lavoie, H.1
Debeane, F.2
Trinh, Q.D.3
-
14
-
-
19544394236
-
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions
-
Albrecht A.N., Kornak U., Boddrich A., et al. A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Hum Mol Genet. 13 (2004) 2351-2359
-
(2004)
Hum Mol Genet.
, vol.13
, pp. 2351-2359
-
-
Albrecht, A.N.1
Kornak, U.2
Boddrich, A.3
-
15
-
-
0034886738
-
Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome
-
Kochling J., Karbasiyan M., and Reis A. Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome. Eur J Hum Genet. 9 (2001) 599-605
-
(2001)
Eur J Hum Genet.
, vol.9
, pp. 599-605
-
-
Kochling, J.1
Karbasiyan, M.2
Reis, A.3
-
16
-
-
29744438814
-
Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome
-
Garcia-Barcelo M., So M.T., Lau D.K., et al. Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome. Clin Chem. 52 (2006) 46-52
-
(2006)
Clin Chem.
, vol.52
, pp. 46-52
-
-
Garcia-Barcelo, M.1
So, M.T.2
Lau, D.K.3
-
17
-
-
33645231681
-
Currarino syndrome: report of two cases and review of the literature
-
Amornfa J., Taecholarn C., and Khaoroptham S. Currarino syndrome: report of two cases and review of the literature. J Med Assoc Thai 88 (2005) 1697-1702
-
(2005)
J Med Assoc Thai
, vol.88
, pp. 1697-1702
-
-
Amornfa, J.1
Taecholarn, C.2
Khaoroptham, S.3
-
18
-
-
33646387444
-
Complete familial Currarino triad in association with Hirschsprung's disease: magnetic resonance imaging features and the spectrum of anorectal malformations
-
Kilickesmez O., Gol I.H., Uzun M., et al. Complete familial Currarino triad in association with Hirschsprung's disease: magnetic resonance imaging features and the spectrum of anorectal malformations. Acta Radiol 47 (2006) 422-426
-
(2006)
Acta Radiol
, vol.47
, pp. 422-426
-
-
Kilickesmez, O.1
Gol, I.H.2
Uzun, M.3
-
19
-
-
4444219578
-
Currarino syndrome: proposal of a diagnostic and therapeutic protocol
-
Martucciello G., Torre M., Belloni E., et al. Currarino syndrome: proposal of a diagnostic and therapeutic protocol. J Pediatr Surg 39 (2004) 1305-1311
-
(2004)
J Pediatr Surg
, vol.39
, pp. 1305-1311
-
-
Martucciello, G.1
Torre, M.2
Belloni, E.3
-
20
-
-
0038676363
-
Currarino triad associated with Hirschsprung's disease
-
Baltogiannis N., Mavridis G., Soutis M., et al. Currarino triad associated with Hirschsprung's disease. J Pediatr Surg. 38 (2003) 1086-1089
-
(2003)
J Pediatr Surg.
, vol.38
, pp. 1086-1089
-
-
Baltogiannis, N.1
Mavridis, G.2
Soutis, M.3
-
21
-
-
33947116261
-
Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia
-
Volk A., Karbasiyan M., Semmler A., et al. Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia. Birth Defects Res A Clin Mol Teratol. 79 (2007) 249-251
-
(2007)
Birth Defects Res A Clin Mol Teratol.
, vol.79
, pp. 249-251
-
-
Volk, A.1
Karbasiyan, M.2
Semmler, A.3
-
22
-
-
0033582545
-
Structure of a HoxB1-Pbx1 heterodimer bound to DNA: role of the hexapeptide and a fourth homeodomain helix in complex formation
-
Piper D.E., Batchelor A.H., Chang C.P., et al. Structure of a HoxB1-Pbx1 heterodimer bound to DNA: role of the hexapeptide and a fourth homeodomain helix in complex formation. Cell 96 (1999) 587-597
-
(1999)
Cell
, vol.96
, pp. 587-597
-
-
Piper, D.E.1
Batchelor, A.H.2
Chang, C.P.3
-
23
-
-
0032967237
-
The solution structure of the homeodomain of the rat insulin-gene enhancer protein isl-1. Comparison with other homeodomains
-
Ippel H., Larsson G., Behravan G., et al. The solution structure of the homeodomain of the rat insulin-gene enhancer protein isl-1. Comparison with other homeodomains. J Mol Biol. 288 (1999) 689-703
-
(1999)
J Mol Biol.
, vol.288
, pp. 689-703
-
-
Ippel, H.1
Larsson, G.2
Behravan, G.3
-
24
-
-
0035169038
-
Missense mutations of human homeoboxes: a review
-
D'Elia A.V., Tell G., Paron I., et al. Missense mutations of human homeoboxes: a review. Hum Mutat 18 (2001) 361-374
-
(2001)
Hum Mutat
, vol.18
, pp. 361-374
-
-
D'Elia, A.V.1
Tell, G.2
Paron, I.3
-
25
-
-
0031447030
-
Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration
-
Swain P.K., Chen S., Wang Q.L., et al. Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron 19 (1997) 1329-1336
-
(1997)
Neuron
, vol.19
, pp. 1329-1336
-
-
Swain, P.K.1
Chen, S.2
Wang, Q.L.3
-
26
-
-
0032231603
-
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene
-
Sohocki M.M., Sullivan L.S., Mintz-Hittner H.A., et al. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. Am J Hum Genet. 63 (1998) 1307-1315
-
(1998)
Am J Hum Genet.
, vol.63
, pp. 1307-1315
-
-
Sohocki, M.M.1
Sullivan, L.S.2
Mintz-Hittner, H.A.3
-
27
-
-
21444446875
-
Homeodomain revisited: a lesson from disease-causing mutations
-
Chi Y.I. Homeodomain revisited: a lesson from disease-causing mutations. Hum Genet 116 (2005) 433-444
-
(2005)
Hum Genet
, vol.116
, pp. 433-444
-
-
Chi, Y.I.1
-
28
-
-
0028032397
-
Structural studies of the engrailed homeodomain
-
Clarke N.D., Kissinger C.R., Desjarlais J., et al. Structural studies of the engrailed homeodomain. Protein Sci. 3 (1994) 1779-1787
-
(1994)
Protein Sci.
, vol.3
, pp. 1779-1787
-
-
Clarke, N.D.1
Kissinger, C.R.2
Desjarlais, J.3
-
29
-
-
0028239908
-
The third helix of the Antennapedia homeodomain translocates through biological membranes
-
Derossi D., Joliot A.H., Chassaing G., et al. The third helix of the Antennapedia homeodomain translocates through biological membranes. J Biol Chem. 269 (1994) 10444-10450
-
(1994)
J Biol Chem.
, vol.269
, pp. 10444-10450
-
-
Derossi, D.1
Joliot, A.H.2
Chassaing, G.3
-
30
-
-
0242297821
-
Beyond homeosis-HOX function in morphogenesis and organogenesis
-
Hombria J.C., and Lovegrove B. Beyond homeosis-HOX function in morphogenesis and organogenesis. Differentiation 71 (2003) 461-476
-
(2003)
Differentiation
, vol.71
, pp. 461-476
-
-
Hombria, J.C.1
Lovegrove, B.2
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