-
1
-
-
0035313903
-
Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary developmental field defect
-
Martinez-Frias ML, Bermejo E, Rodriguez-Pinilla E, Frias JL, (2001) Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary developmental field defect. Am J Med Genet 99: 261-269.
-
(2001)
Am J Med Genet
, vol.99
, pp. 261-269
-
-
Martinez-Frias, M.L.1
Bermejo, E.2
Rodriguez-Pinilla, E.3
Frias, J.L.4
-
2
-
-
0024854427
-
State-of-the-art reconstructive surgery for bladder exstrophy at the Johns Hopkins Hospital
-
Gearhart JP, Jeffs RD, (1989) State-of-the-art reconstructive surgery for bladder exstrophy at the Johns Hopkins Hospital. Am J Dis Child 143: 1475-1478.
-
(1989)
Am J Dis Child
, vol.143
, pp. 1475-1478
-
-
Gearhart, J.P.1
Jeffs, R.D.2
-
3
-
-
11144243414
-
Clinical and molecular characterization of the bladder exstrophy-epispadias complex: analysis of 232 families
-
Boyadjiev SA, Dodson JL, Radford CL, Ashrafi GH, Beaty TH, et al. (2004) Clinical and molecular characterization of the bladder exstrophy-epispadias complex: analysis of 232 families. BJU Int 94: 1337-1343.
-
(2004)
BJU Int
, vol.94
, pp. 1337-1343
-
-
Boyadjiev, S.A.1
Dodson, J.L.2
Radford, C.L.3
Ashrafi, G.H.4
Beaty, T.H.5
-
4
-
-
17144400426
-
Contemporary epidemiology of bladder exstrophy in the United States
-
Nelson CP, Dunn RL, Wei JT, (2005) Contemporary epidemiology of bladder exstrophy in the United States. J Urol 173: 1728-1731.
-
(2005)
J Urol
, vol.173
, pp. 1728-1731
-
-
Nelson, C.P.1
Dunn, R.L.2
Wei, J.T.3
-
5
-
-
2642522293
-
Another case of autosomal dominant exstrophy of the bladder
-
Froster UG, Heinritz W, Bennek J, Horn LC, Faber R, (2004) Another case of autosomal dominant exstrophy of the bladder. Prenat Diagn 24: 375-377.
-
(2004)
Prenat Diagn
, vol.24
, pp. 375-377
-
-
Froster, U.G.1
Heinritz, W.2
Bennek, J.3
Horn, L.C.4
Faber, R.5
-
6
-
-
62949111091
-
Genome-wide linkage scan for bladder exstrophy-epispadias complex
-
Ludwig M, Ruschendorf F, Saar K, Hubner N, Siekmann L, et al. (2009) Genome-wide linkage scan for bladder exstrophy-epispadias complex. Birth Defects Res A Clin Mol Teratol 85: 174-178.
-
(2009)
Birth Defects Res A Clin Mol Teratol
, vol.85
, pp. 174-178
-
-
Ludwig, M.1
Ruschendorf, F.2
Saar, K.3
Hubner, N.4
Siekmann, L.5
-
7
-
-
0021210530
-
The inheritance of the exstrophy-epispadias complex
-
Shapiro E, Lepor H, Jeffs RD, (1984) The inheritance of the exstrophy-epispadias complex. J Urol 132: 308-310.
-
(1984)
J Urol
, vol.132
, pp. 308-310
-
-
Shapiro, E.1
Lepor, H.2
Jeffs, R.D.3
-
8
-
-
35948965290
-
Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiology
-
Reutter H, Qi L, Gearhart JP, Boemers T, Ebert AK, et al. (2007) Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiology. Am J Med Genet A 143A: 2751-2756.
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 2751-2756
-
-
Reutter, H.1
Qi, L.2
Gearhart, J.P.3
Boemers, T.4
Ebert, A.K.5
-
9
-
-
33846063210
-
DeltaNp63 plays an anti-apoptotic role in ventral bladder development
-
Cheng W, Jacobs WB, Zhang JJ, Moro A, Park JH, et al. (2006) DeltaNp63 plays an anti-apoptotic role in ventral bladder development. Development 133: 4783-4792.
-
(2006)
Development
, vol.133
, pp. 4783-4792
-
-
Cheng, W.1
Jacobs, W.B.2
Zhang, J.J.3
Moro, A.4
Park, J.H.5
-
10
-
-
0942301281
-
p63 is the molecular switch for initiation of an epithelial stratification program
-
Koster MI, Kim S, Mills AA, DeMayo FJ, Roop DR, (2004) p63 is the molecular switch for initiation of an epithelial stratification program. Genes Dev 18: 126-131.
-
(2004)
Genes Dev
, vol.18
, pp. 126-131
-
-
Koster, M.I.1
Kim, S.2
Mills, A.A.3
DeMayo, F.J.4
Roop, D.R.5
-
11
-
-
0032161624
-
p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities
-
Yang A, Kaghad M, Wang Y, Gillett E, Fleming MD, et al. (1998) p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities. Mol Cell 2: 305-316.
-
(1998)
Mol Cell
, vol.2
, pp. 305-316
-
-
Yang, A.1
Kaghad, M.2
Wang, Y.3
Gillett, E.4
Fleming, M.D.5
-
12
-
-
0033594491
-
p63 is a p53 homologue required for limb and epidermal morphogenesis
-
Mills AA, Zheng B, Wang XJ, Vogel H, Roop DR, et al. (1999) p63 is a p53 homologue required for limb and epidermal morphogenesis. Nature 398: 708-713.
-
(1999)
Nature
, vol.398
, pp. 708-713
-
-
Mills, A.A.1
Zheng, B.2
Wang, X.J.3
Vogel, H.4
Roop, D.R.5
-
13
-
-
0029853648
-
Role of mesenchymal-epithelial interactions in normal bladder development
-
Baskin LS, Hayward SW, Young P, Cunha GR, (1996) Role of mesenchymal-epithelial interactions in normal bladder development. J Urol 156: 1820-1827.
-
(1996)
J Urol
, vol.156
, pp. 1820-1827
-
-
Baskin, L.S.1
Hayward, S.W.2
Young, P.3
Cunha, G.R.4
-
14
-
-
78649929060
-
p63 (TP73L) a key player in embryonic urogenital development with significant dysregulation in human bladder exstrophy tissue
-
Ching BJ, Wittler L, Proske J, Yagnik G, Qi L, et al. (2010) p63 (TP73L) a key player in embryonic urogenital development with significant dysregulation in human bladder exstrophy tissue. Int J Mol Med 26: 861-867.
-
(2010)
Int J Mol Med
, vol.26
, pp. 861-867
-
-
Ching, B.J.1
Wittler, L.2
Proske, J.3
Yagnik, G.4
Qi, L.5
-
15
-
-
60149090387
-
Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies
-
Rodriguez S, Gaunt TR, Day IN, (2009) Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies. Am J Epidemiol 169: 505-514.
-
(2009)
Am J Epidemiol
, vol.169
, pp. 505-514
-
-
Rodriguez, S.1
Gaunt, T.R.2
Day, I.N.3
-
16
-
-
38049187753
-
Cubic exact solutions for the estimation of pairwise haplotype frequencies: implications for linkage disequilibrium analyses and a web tool 'CubeX
-
Gaunt TR, Rodriguez S, Day IN, (2007) Cubic exact solutions for the estimation of pairwise haplotype frequencies: implications for linkage disequilibrium analyses and a web tool 'CubeX'. BMC Bioinformatics 8: 428.
-
(2007)
BMC Bioinformatics
, vol.8
, pp. 428
-
-
Gaunt, T.R.1
Rodriguez, S.2
Day, I.N.3
-
17
-
-
67449093467
-
A six-nucleotide insertion-deletion polymorphism in the CASP8 promoter is associated with risk of coal workers' pneumoconiosis
-
Ni C, Ye Y, Wang M, Qian H, Song Z, et al. (2009) A six-nucleotide insertion-deletion polymorphism in the CASP8 promoter is associated with risk of coal workers' pneumoconiosis. J Toxicol Environ Health A 72: 712-716.
-
(2009)
J Toxicol Environ Health A
, vol.72
, pp. 712-716
-
-
Ni, C.1
Ye, Y.2
Wang, M.3
Qian, H.4
Song, Z.5
-
18
-
-
67650074526
-
The CGGGG insertion/deletion polymorphism of the IRF5 promoter is a strong risk factor for primary Sjogren's syndrome
-
Miceli-Richard C, Gestermann N, Ittah M, Comets E, Loiseau P, et al. (2009) The CGGGG insertion/deletion polymorphism of the IRF5 promoter is a strong risk factor for primary Sjogren's syndrome. Arthritis Rheum 60: 1991-1997.
-
(2009)
Arthritis Rheum
, vol.60
, pp. 1991-1997
-
-
Miceli-Richard, C.1
Gestermann, N.2
Ittah, M.3
Comets, E.4
Loiseau, P.5
-
19
-
-
0032860829
-
Association between a sequence variant in the IL-4 gene promoter and FEV(1) in asthma
-
Burchard EG, Silverman EK, Rosenwasser LJ, Borish L, Yandava C, et al. (1999) Association between a sequence variant in the IL-4 gene promoter and FEV(1) in asthma. Am J Respir Crit Care Med 160: 919-922.
-
(1999)
Am J Respir Crit Care Med
, vol.160
, pp. 919-922
-
-
Burchard, E.G.1
Silverman, E.K.2
Rosenwasser, L.J.3
Borish, L.4
Yandava, C.5
-
20
-
-
0025856712
-
Thalassemia intermedia: moderate reduction of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element
-
Kulozik AE, Bellan-Koch A, Bail S, Kohne E, Kleihauer E, (1991) Thalassemia intermedia: moderate reduction of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element. Blood 77: 2054-2058.
-
(1991)
Blood
, vol.77
, pp. 2054-2058
-
-
Kulozik, A.E.1
Bellan-Koch, A.2
Bail, S.3
Kohne, E.4
Kleihauer, E.5
-
21
-
-
34247624135
-
A six-nucleotide insertion-deletion polymorphism in the CASP8 promoter is associated with susceptibility to multiple cancers
-
Sun T, Gao Y, Tan W, Ma S, Shi Y, et al. (2007) A six-nucleotide insertion-deletion polymorphism in the CASP8 promoter is associated with susceptibility to multiple cancers. Nat Genet 39: 605-613.
-
(2007)
Nat Genet
, vol.39
, pp. 605-613
-
-
Sun, T.1
Gao, Y.2
Tan, W.3
Ma, S.4
Shi, Y.5
-
22
-
-
47549086143
-
The CASP8 -652 6N del promoter polymorphism and breast cancer risk: a multicenter study
-
Frank B, Rigas SH, Bermejo JL, Wiestler M, Wagner K, et al. (2008) The CASP8 -652 6N del promoter polymorphism and breast cancer risk: a multicenter study. Breast Cancer Res Treat 111: 139-144.
-
(2008)
Breast Cancer Res Treat
, vol.111
, pp. 139-144
-
-
Frank, B.1
Rigas, S.H.2
Bermejo, J.L.3
Wiestler, M.4
Wagner, K.5
-
23
-
-
39749101215
-
A promoter polymorphism in the CASP8 gene is not associated with cancer risk
-
author reply 260-251
-
Haiman CA, Garcia RR, Kolonel LN, Henderson BE, Wu AH, et al. (2008) A promoter polymorphism in the CASP8 gene is not associated with cancer risk. Nat Genet 40: 259-260; author reply 260-251.
-
(2008)
Nat Genet
, vol.40
, pp. 259-260
-
-
Haiman, C.A.1
Garcia, R.R.2
Kolonel, L.N.3
Henderson, B.E.4
Wu, A.H.5
-
24
-
-
42149097703
-
CASP8 variants D302H and -652 6N ins/del do not influence the risk of colorectal cancer in the United Kingdom population
-
Pittman AM, Broderick P, Sullivan K, Fielding S, Webb E, et al. (2008) CASP8 variants D302H and -652 6N ins/del do not influence the risk of colorectal cancer in the United Kingdom population. Br J Cancer 98: 1434-1436.
-
(2008)
Br J Cancer
, vol.98
, pp. 1434-1436
-
-
Pittman, A.M.1
Broderick, P.2
Sullivan, K.3
Fielding, S.4
Webb, E.5
-
25
-
-
17644381260
-
Perp is a p63-regulated gene essential for epithelial integrity
-
Ihrie RA, Marques MR, Nguyen BT, Horner JS, Papazoglu C, et al. (2005) Perp is a p63-regulated gene essential for epithelial integrity. Cell 120: 843-856.
-
(2005)
Cell
, vol.120
, pp. 843-856
-
-
Ihrie, R.A.1
Marques, M.R.2
Nguyen, B.T.3
Horner, J.S.4
Papazoglu, C.5
-
26
-
-
79954554253
-
Genome-wide expression profiling of urinary bladder implicates desmosomal and cytoskeletal dysregulation in the bladder exstrophy-epispadias complex
-
Qi L, Chen K, Hur DJ, Yagnik G, Lakshmanan Y, et al. (2011) Genome-wide expression profiling of urinary bladder implicates desmosomal and cytoskeletal dysregulation in the bladder exstrophy-epispadias complex. Int J Mol Med 27: 755-765.
-
(2011)
Int J Mol Med
, vol.27
, pp. 755-765
-
-
Qi, L.1
Chen, K.2
Hur, D.J.3
Yagnik, G.4
Lakshmanan, Y.5
-
27
-
-
0032744735
-
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
-
Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, et al. (1999) Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 99: 143-153.
-
(1999)
Cell
, vol.99
, pp. 143-153
-
-
Celli, J.1
Duijf, P.2
Hamel, B.C.3
Bamshad, M.4
Kramer, B.5
-
28
-
-
0029888205
-
EEC syndrome and genitourinary anomalies: an update
-
Maas SM, de Jong TP, Buss P, Hennekam RC, (1996) EEC syndrome and genitourinary anomalies: an update. Am J Med Genet 63: 472-478.
-
(1996)
Am J Med Genet
, vol.63
, pp. 472-478
-
-
Maas, S.M.1
de Jong, T.P.2
Buss, P.3
Hennekam, R.C.4
-
29
-
-
16444381836
-
Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report and review of the literature
-
Chuangsuwanich T, Sunsaneevithayakul P, Muangsomboon K, Limwongse C, (2005) Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report and review of the literature. Prenat Diagn 25: 210-215.
-
(2005)
Prenat Diagn
, vol.25
, pp. 210-215
-
-
Chuangsuwanich, T.1
Sunsaneevithayakul, P.2
Muangsomboon, K.3
Limwongse, C.4
-
30
-
-
0041853151
-
Constitutive expression of DeltaN-p63alpha isoform in human thymus and thymic epithelial tumours
-
Chilosi M, Zamo A, Brighenti A, Malpeli G, Montagna L, et al. (2003) Constitutive expression of DeltaN-p63alpha isoform in human thymus and thymic epithelial tumours. Virchows Arch 443: 175-183.
-
(2003)
Virchows Arch
, vol.443
, pp. 175-183
-
-
Chilosi, M.1
Zamo, A.2
Brighenti, A.3
Malpeli, G.4
Montagna, L.5
-
31
-
-
17344392308
-
A new mathematical model for relative quantification in real-time RT-PCR
-
Pfaffl MW, (2001) A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res 29: e45.
-
(2001)
Nucleic Acids Res
, vol.29
-
-
Pfaffl, M.W.1
-
32
-
-
0036791441
-
p63 Coordinates anogenital modeling and epithelial cell differentiation in the developing female urogenital tract
-
Ince TA, Cviko AP, Quade BJ, Yang A, McKeon FD, et al. (2002) p63 Coordinates anogenital modeling and epithelial cell differentiation in the developing female urogenital tract. Am J Pathol 161: 1111-1117.
-
(2002)
Am J Pathol
, vol.161
, pp. 1111-1117
-
-
Ince, T.A.1
Cviko, A.P.2
Quade, B.J.3
Yang, A.4
McKeon, F.D.5
-
33
-
-
0033594485
-
p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development
-
Yang A, Schweitzer R, Sun D, Kaghad M, Walker N, et al. (1999) p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development. Nature 398: 714-718.
-
(1999)
Nature
, vol.398
, pp. 714-718
-
-
Yang, A.1
Schweitzer, R.2
Sun, D.3
Kaghad, M.4
Walker, N.5
|