-
1
-
-
0033039130
-
Risk factor patterns for cryptorchidism and hypospadias
-
Akre O, Lipworth L, Cnattingius S, Sparen P, Ekbom A (1999) Risk factor patterns for cryptorchidism and hypospadias. Epidemiology 10(4):364-369
-
(1999)
Epidemiology
, vol.10
, Issue.4
, pp. 364-369
-
-
Akre, O.1
Lipworth, L.2
Cnattingius, S.3
Sparen, P.4
Ekbom, A.5
-
2
-
-
0028982534
-
Mutations of the androgen receptor coding sequence are infrequent in patients with isolated hypospadias
-
Allera A, Herbst MA, Griffin JE, Wilson JD, Schweikert HU, McPhaul MJ (1995) Mutations of the androgen receptor coding sequence are infrequent in patients with isolated hypospadias. J Clin Endocrinol Metab 80(9):2697-2699
-
(1995)
J Clin Endocrinol Metab
, vol.80
, Issue.9
, pp. 2697-2699
-
-
Allera, A.1
Herbst, M.A.2
Griffin, J.E.3
Wilson, J.D.4
Schweikert, H.U.5
McPhaul, M.J.6
-
3
-
-
0027534940
-
Mutations of the androgen receptor gene identified in perineal hypospadias
-
Batch JA, Evans BA, Hughes IA, Patterson MN (1993) Mutations of the androgen receptor gene identified in perineal hypospadias. J Med Genet 30(3):198-201
-
(1993)
J Med Genet
, vol.30
, Issue.3
, pp. 198-201
-
-
Batch, J.A.1
Evans, B.A.2
Hughes, I.A.3
Patterson, M.N.4
-
4
-
-
0018358630
-
Hypospadias: A familial study
-
Bauer SB, Bull MJ, Retik AB (1979) Hypospadias: A familial study. J Urol 121(4):474-477
-
(1979)
J Urol
, vol.121
, Issue.4
, pp. 474-477
-
-
Bauer, S.B.1
Bull, M.J.2
Retik, A.B.3
-
5
-
-
34548725716
-
Risk factors for hypospadias in the estrogen receptor 2 gene
-
Beleza-Meireles A, Kockum I, Lundberg F, Söderhäll C, Nordenskjold A (2007) Risk factors for hypospadias in the estrogen receptor 2 gene. J Clin Endocrinol Metab 92:3712-3718
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 3712-3718
-
-
Beleza-Meireles, A.1
Kockum, I.2
Lundberg, F.3
Söderhäll, C.4
Nordenskjold, A.5
-
6
-
-
43149103366
-
Activating transcription factor 3: A hormone responsive gene in the etiology of hypospadias
-
Beleza-Meireles A, Tohonen V, Söderhäll C, Schwentner C, Radmayr C, Kockum I, Nordenskjold A (2008) Activating transcription factor 3: A hormone responsive gene in the etiology of hypospadias. Eur J Endocrinology 158(5):729-739
-
(2008)
Eur J Endocrinology
, vol.158
, Issue.5
, pp. 729-739
-
-
Beleza-Meireles, A.1
Tohonen, V.2
Söderhäll, C.3
Schwentner, C.4
Radmayr, C.5
Kockum, I.6
Nordenskjold, A.7
-
7
-
-
0033233294
-
17 beta-hydroxysteroid dehydrogenase-3-deficiency: Diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations
-
Boehmer AL, Brinkmann AO, Sandkuijl LA, Halley DJ, Niermeijer MF, Andersson S, de Jong FH, Kayserili H, de Vroede MA, Otten BJ, Rouwé CW, Mendonca BB, Rodrigues C, Bode HH, de Ruiter PE, Delemarre-van de Waal HA, Drop SL (1999) 17 beta-hydroxysteroid dehydrogenase-3-deficiency: Diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. J Clin Endocrinol Metab 84:4713-4721
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 4713-4721
-
-
Boehmer, A.L.1
Brinkmann, A.O.2
Sandkuijl, L.A.3
Halley, D.J.4
Niermeijer, M.F.5
Andersson, S.6
de Jong, F.H.7
Kayserili, H.8
de Vroede, M.A.9
Otten, B.J.10
Rouwé, C.W.11
Mendonca, B.B.12
Rodrigues, C.13
Bode, H.H.14
de Ruiter, P.E.15
Delemarre-van de Waal, H.A.16
Drop, S.L.17
-
8
-
-
0035951661
-
Genomic organization of a human 5-beta-reductase and its pseudogene and substrate selectivity of the expressed enzyme
-
Charbonneau A, The VL (2001) Genomic organization of a human 5-beta-reductase and its pseudogene and substrate selectivity of the expressed enzyme. Biochim Biophys Acta 1517(2):228-235
-
(2001)
Biochim Biophys Acta
, vol.1517
, Issue.2
, pp. 228-235
-
-
Charbonneau, A.1
The, V.L.2
-
9
-
-
0032954471
-
Molecular control of vertebrate limb development, evolution and congenital malformation
-
Cohn MJ, Bright PE (1999) Molecular control of vertebrate limb development, evolution and congenital malformation. Cell Tissue Res 296(1):3-17
-
(1999)
Cell Tissue Res
, vol.296
, Issue.1
, pp. 3-17
-
-
Cohn, M.J.1
Bright, P.E.2
-
10
-
-
0032325376
-
Hypospadias is related to birth weight in discordant monozygotic twins
-
Fredell L, Lichtenstein P, Pedersen N, Svensson J, Nordenskjold A (1998) Hypospadias is related to birth weight in discordant monozygotic twins. J Urol 160:2197-2199
-
(1998)
J Urol
, vol.160
, pp. 2197-2199
-
-
Fredell, L.1
Lichtenstein, P.2
Pedersen, N.3
Svensson, J.4
Nordenskjold, A.5
-
11
-
-
0036765536
-
Complex segregation analysis of hypospadias
-
Fredell L, Iselius L, Collins A, Hansson E, Holmner S, Lundquist L, Läckgren G, Pedersen J, Sjödin JG, Stenberg A, Westbacke G, Nordenskjöld A (2002a) Complex segregation analysis of hypospadias. Hum Genet 111:231-234
-
(2002)
Hum Genet
, vol.111
, pp. 231-234
-
-
Fredell, L.1
Iselius, L.2
Collins, A.3
Hansson, E.4
Holmner, S.5
Lundquist, L.6
Läckgren, G.7
Pedersen, J.8
Sjödin, J.G.9
Stenberg, A.10
Westbacke, G.11
Nordenskjöld, A.12
-
12
-
-
20244371284
-
Heredity of hypospadias and the significance of low birth weight
-
Fredell L, Kockum I, Hansson E, Holmner S, Lundquist L, Läckgren G, Pedersen J, Stenberg A, Westbacke G, Nordenskjöld A (2002b) Heredity of hypospadias and the significance of low birth weight. J Urol 167(3):1423-1427
-
(2002)
J Urol
, vol.167
, Issue.3
, pp. 1423-1427
-
-
Fredell, L.1
Kockum, I.2
Hansson, E.3
Holmner, S.4
Lundquist, L.5
Läckgren, G.6
Pedersen, J.7
Stenberg, A.8
Westbacke, G.9
Nordenskjöld, A.10
-
13
-
-
4544338524
-
Genome- wide linkage analysis for hypospadias susceptibility genes
-
Frisen L, Söderhäll C, Tapper-Persson M, Luthman H, Kockum I, Nordenskjöld A (2004) Genome- wide linkage analysis for hypospadias susceptibility genes. J Urol 172:1460-1463
-
(2004)
J Urol
, vol.172
, pp. 1460-1463
-
-
Frisen, L.1
Söderhäll, C.2
Tapper-Persson, M.3
Luthman, H.4
Kockum, I.5
Nordenskjöld, A.6
-
14
-
-
0021844651
-
Uncomplicated familial hypospadias: Evidence for autosomal recessive inheritance
-
Frydman M, Greiber C, Cohen HA (1985) Uncomplicated familial hypospadias: Evidence for autosomal recessive inheritance. Am J Med Genet 21(1):51-60
-
(1985)
Am J Med Genet
, vol.21
, Issue.1
, pp. 51-60
-
-
Frydman, M.1
Greiber, C.2
Cohen, H.A.3
-
15
-
-
33751526989
-
CXorf6 is a causative gene for hypospadias
-
Fukami M, Wada Y, Miyabayashi K, Nishino I, Hasegawa T, Nordenskjold A, Camerino G, Kretz C, Buj-Bello A, Laporte J, Yamada G, Morohashi K, Ogata T (2006) CXorf6 is a causative gene for hypospadias. Nat Genet 38(12):1369-1371
-
(2006)
Nat Genet
, vol.38
, Issue.12
, pp. 1369-1371
-
-
Fukami, M.1
Wada, Y.2
Miyabayashi, K.3
Nishino, I.4
Hasegawa, T.5
Nordenskjold, A.6
Camerino, G.7
Kretz, C.8
Buj-Bello, A.9
Laporte, J.10
Yamada, G.11
Morohashi, K.12
Ogata, T.13
-
16
-
-
0027930787
-
Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3
-
Geissler WM, Davis DL, Wu L, Bradshaw KD, Patel S, Mendonca BB, Elliston K, Wilson JD, Russell DW, Andersson S (1994) Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. Nat Genet 7(1):34-39
-
(1994)
Nat Genet
, vol.7
, Issue.1
, pp. 34-39
-
-
Geissler, W.M.1
Davis, D.L.2
Wu, L.3
Bradshaw, K.D.4
Patel, S.5
Mendonca, B.B.6
Elliston, K.7
Wilson, J.D.8
Russell, D.W.9
Andersson, S.10
-
17
-
-
1642268005
-
SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: Evidence for primary genetic defect
-
Gonzales E, Cresteil D, Baussan C, Dabadie A, Gerhardt MF, Jacquemin E (2004) SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: Evidence for primary genetic defect. J Hepatol 40(4):716-718
-
(2004)
J Hepatol
, vol.40
, Issue.4
, pp. 716-718
-
-
Gonzales, E.1
Cresteil, D.2
Baussan, C.3
Dabadie, A.4
Gerhardt, M.F.5
Jacquemin, E.6
-
18
-
-
0034098774
-
Allegro, a new computer program for multipoint linkage analysis
-
Gudbjartsson DF, Jonasson K, Frigge ML, Kong A (2000) Allegro, a new computer program for multipoint linkage analysis. Nat Genet 25(1):12-13
-
(2000)
Nat Genet
, vol.25
, Issue.1
, pp. 12-13
-
-
Gudbjartsson, D.F.1
Jonasson, K.2
Frigge, M.L.3
Kong, A.4
-
19
-
-
18544409648
-
Molecular analysis of external genitalia formation: The role of fibroblast growth factor (Fgf) genes during genital tubercle formation
-
Haraguchi R, Suzuki K, Murakami R, Sakai M, Kamikawa M, Kengaku M, Sekine K, Kawano H, Kato S, Ueno N (2000) Molecular analysis of external genitalia formation: The role of fibroblast growth factor (Fgf) genes during genital tubercle formation. Development 127(11):2471-2479
-
(2000)
Development
, vol.127
, Issue.11
, pp. 2471-2479
-
-
Haraguchi, R.1
Suzuki, K.2
Murakami, R.3
Sakai, M.4
Kamikawa, M.5
Kengaku, M.6
Sekine, K.7
Kawano, H.8
Kato, S.9
Ueno, N.10
-
20
-
-
0003836655
-
Sequence and expression levels in human tissues of a new member of the aldo-keto reductase family
-
Hyndman DJ, Flynn TG (1998) Sequence and expression levels in human tissues of a new member of the aldo-keto reductase family. Biochem Biophys Acta 1399(2-3):198-202
-
(1998)
Biochem Biophys Acta
, vol.1399
, Issue.2-3
, pp. 198-202
-
-
Hyndman, D.J.1
Flynn, T.G.2
-
21
-
-
0020346488
-
An epidemiological study of hypospadias in Sweden
-
Källén B, Winberg J (1982) An epidemiological study of hypospadias in Sweden. Acta Paediatr Scand Suppl 293:1-21
-
(1982)
Acta Paediatr Scand Suppl
, vol.293
, pp. 1-21
-
-
Källén, B.1
Winberg, J.2
-
22
-
-
0027979898
-
Cloning and expression of cDNA of human delta 4-3-oxosteroid 5 beta-reductase and substrate specificity of the expressed enzyme
-
Kondo KH, Kai MH, Setoguchi Y, Eggertsen G, Sjöblom P, Setoguchi T, Okuda KI, Björkhem I (1994) Cloning and expression of cDNA of human delta 4-3-oxosteroid 5 beta-reductase and substrate specificity of the expressed enzyme. Eur J Biochem 219(1-2):357-363
-
(1994)
Eur J Biochem
, vol.219
, Issue.1-2
, pp. 357-363
-
-
Kondo, K.H.1
Kai, M.H.2
Setoguchi, Y.3
Eggertsen, G.4
Sjöblom, P.5
Setoguchi, T.6
Okuda, K.I.7
Björkhem, I.8
-
23
-
-
18544381909
-
A high-resolution recombination map of the human genome
-
Kong A, Gudbjartsson DF, Sainz J, Jonsdottir GM, Gudjonsson SA, Richardsson B, Sigurdardottir S, Barnard J, Hallbeck B, Masson G, Shlien A, Palsson ST, Frigge ML, Thorgeirsson TE, Gulcher JR, Stefansson K (2002) A high-resolution recombination map of the human genome. Nat Genet 31(3):241-247
-
(2002)
Nat Genet
, vol.31
, Issue.3
, pp. 241-247
-
-
Kong, A.1
Gudbjartsson, D.F.2
Sainz, J.3
Jonsdottir, G.M.4
Gudjonsson, S.A.5
Richardsson, B.6
Sigurdardottir, S.7
Barnard, J.8
Hallbeck, B.9
Masson, G.10
Shlien, A.11
Palsson, S.T.12
Frigge, M.L.13
Thorgeirsson, T.E.14
Gulcher, J.R.15
Stefansson, K.16
-
24
-
-
0141645554
-
Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy
-
Lemonde HA, Custard EJ, Bouquet J, Duran M, Overmars H, Scambler PJ, Clayton PT (2003) Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. Gut 52(10):1494-1499
-
(2003)
Gut
, vol.52
, Issue.10
, pp. 1494-1499
-
-
Lemonde, H.A.1
Custard, E.J.2
Bouquet, J.3
Duran, M.4
Overmars, H.5
Scambler, P.J.6
Clayton, P.T.7
-
25
-
-
0025615372
-
Cloning and expression of a developmentally regulated protein that induces mitogenic and neurite outgrowth activity
-
Li Y-S, Milner PG, Chauhan AK, Watson MA, Hoffman RM, Kodner CM, Milbrandt J, Deuel TF (1990) Cloning and expression of a developmentally regulated protein that induces mitogenic and neurite outgrowth activity. Science 250:1690-1694
-
(1990)
Science
, vol.250
, pp. 1690-1694
-
-
Li, Y.-S.1
Milner, P.G.2
Chauhan, A.K.3
Watson, M.A.4
Hoffman, R.M.5
Kodner, C.M.6
Milbrandt, J.7
Deuel, T.F.8
-
26
-
-
0017238889
-
Hypospadias in successive generations - Possible dominant gene inheritance
-
Lowry RB, Kliman MR (1976) Hypospadias in successive generations - possible dominant gene inheritance. Clin Genet 9(3):285-288
-
(1976)
Clin Genet
, vol.9
, Issue.3
, pp. 285-288
-
-
Lowry, R.B.1
Kliman, M.R.2
-
27
-
-
0033304593
-
Male pseudohermaphroditism caused by mutations of the human androgen receptor
-
McPhaul MJ, Griffin JE (1999) Male pseudohermaphroditism caused by mutations of the human androgen receptor. J Clin Endocrinol Metab 84(10):3435-3441
-
(1999)
J Clin Endocrinol Metab
, vol.84
, Issue.10
, pp. 3435-3441
-
-
McPhaul, M.J.1
Griffin, J.E.2
-
28
-
-
0031050961
-
Mutation of HOXA13 in hand-foot-genital syndrome
-
Mortlock DP, Innis JW (1997) Mutation of HOXA13 in hand-foot-genital syndrome. Nat Genet 15(2):179-180
-
(1997)
Nat Genet
, vol.15
, Issue.2
, pp. 179-180
-
-
Mortlock, D.P.1
Innis, J.W.2
-
29
-
-
0018344477
-
Inheritance of uncomplicated hypospadias
-
Page LA (1979) Inheritance of uncomplicated hypospadias. Pediatrics 63(5):788-790
-
(1979)
Pediatrics
, vol.63
, Issue.5
, pp. 788-790
-
-
Page, L.A.1
-
30
-
-
0032945377
-
International trends in rates of hypospadias and cryptorchidism
-
Paulozzi LJ (1999) International trends in rates of hypospadias and cryptorchidism. Environ Health Perspect 107(4):297-302
-
(1999)
Environ Health Perspect
, vol.107
, Issue.4
, pp. 297-302
-
-
Paulozzi, L.J.1
-
31
-
-
0036116268
-
A high hypospadias rate in The Netherlands
-
Pierik FH, Burdorf A, Nijman JM, de Muinck Keizer-Schrama SM, Juttman RE, Weber RF (2002) A high hypospadias rate in The Netherlands. Hum Reprod 17(4):1112-1115
-
(2002)
Hum Reprod
, vol.17
, Issue.4
, pp. 1112-1115
-
-
Pierik, F.H.1
Burdorf, A.2
Nijman, J.M.3
de Muinck Keizer-Schrama, S.M.4
Juttman, R.E.5
Weber, R.F.6
-
32
-
-
0028865860
-
A collection of tri- and tetranucleotide markers used to generate high quality, high resolution human genome-wide linkage maps
-
Sheffield VC, Weber JL, Buetow KH, Murray JC, Even DA, Wiles K, Gastier JM, Pulido JC, Yandava C, Sunden SL, Mattes G, Businga T, McClain A, Beck J, Scherpler T, Gilliam J, Zhong J, Duyk GM (1995) A collection of tri- and tetranucleotide markers used to generate high quality, high resolution human genome-wide linkage maps. Hum Mol Genet 4(10):1837-1844
-
(1995)
Hum Mol Genet
, vol.4
, Issue.10
, pp. 1837-1844
-
-
Sheffield, V.C.1
Weber, J.L.2
Buetow, K.H.3
Murray, J.C.4
Even, D.A.5
Wiles, K.6
Gastier, J.M.7
Pulido, J.C.8
Yandava, C.9
Sunden, S.L.10
Mattes, G.11
Businga, T.12
McClain, A.13
Beck, J.14
Scherpler, T.15
Gilliam, J.16
Zhong, J.17
Duyk, G.M.18
-
33
-
-
0026730788
-
The molecular genetics of steroid 5-alpha-reductase 2 deficiency
-
Thigpen AE, Davis DL, Milatovich A, Mendonca BB, Imperato-McGinley J, Griffin JE, Francke U, Wilson JD, Russell DW (1992) The molecular genetics of steroid 5-alpha-reductase 2 deficiency. J Clin Invest 90(3):799-809
-
(1992)
J Clin Invest
, vol.90
, Issue.3
, pp. 799-809
-
-
Thigpen, A.E.1
Davis, D.L.2
Milatovich, A.3
Mendonca, B.B.4
Imperato-McGinley, J.5
Griffin, J.E.6
Francke, U.7
Wilson, J.D.8
Russell, D.W.9
-
34
-
-
0035011479
-
Trends in the incidence of cryptorchidism and hypospadias, and methodological limitations of registry-based data
-
Toppari J, Kaleva M, Virtanen HE (2001) Trends in the incidence of cryptorchidism and hypospadias, and methodological limitations of registry-based data. Hum Reprod Update 7(3):282-286
-
(2001)
Hum Reprod Update
, vol.7
, Issue.3
, pp. 282-286
-
-
Toppari, J.1
Kaleva, M.2
Virtanen, H.E.3
-
35
-
-
0028884945
-
Upregulation of heparin-affin regulatory peptide by androgen
-
Vacherot F, Laaroubi K, Caruelle D, Delbe J, Barritault D, Caruelle JP, Courty J (1995) Upregulation of heparin-affin regulatory peptide by androgen. In Vitro Cell Dev Biol Anim 31(9):647-648
-
(1995)
In Vitro Cell Dev Biol Anim
, vol.31
, Issue.9
, pp. 647-648
-
-
Vacherot, F.1
Laaroubi, K.2
Caruelle, D.3
Delbe, J.4
Barritault, D.5
Caruelle, J.P.6
Courty, J.7
-
36
-
-
0026728088
-
Cellular distribution of the new growth factor pleiotrophin (HB-GAM) mRNA in developing and adult rat tissues
-
Vanderwinden JM, Mailleux P, Schiffmann SN, Vanderhaeghen JJ (1992) Cellular distribution of the new growth factor pleiotrophin (HB-GAM) mRNA in developing and adult rat tissues. Anat Embryol 186(4):387-406
-
(1992)
Anat Embryol
, vol.186
, Issue.4
, pp. 387-406
-
-
Vanderwinden, J.M.1
Mailleux, P.2
Schiffmann, S.N.3
Vanderhaeghen, J.J.4
-
37
-
-
34147197014
-
Upregulation of estrogen responsive genes in hypospadias: Microarray analysis
-
Wang Z, Liu BC, Lin GT, Lue TF, Willingham E, Baskin LS (2007) Upregulation of estrogen responsive genes in hypospadias: Microarray analysis. J Urol 177(5):1939-1946
-
(2007)
J Urol
, vol.177
, Issue.5
, pp. 1939-1946
-
-
Wang, Z.1
Liu, B.C.2
Lin, G.T.3
Lue, T.F.4
Willingham, E.5
Baskin, L.S.6
-
38
-
-
34447093955
-
Haplotype analysis of the estrogen receptor 1 gene in male genital and reproductive abnormalities
-
Watanabe M, Yoshida R, Ueoka K, Aoki K, Sasagawa I, Hasegawa T, Sueoka K, Kamatani N, Yoshimura Y, Ogata T (2007) Haplotype analysis of the estrogen receptor 1 gene in male genital and reproductive abnormalities. Hum Reprod 22(5):1279-1284
-
(2007)
Hum Reprod
, vol.22
, Issue.5
, pp. 1279-1284
-
-
Watanabe, M.1
Yoshida, R.2
Ueoka, K.3
Aoki, K.4
Sasagawa, I.5
Hasegawa, T.6
Sueoka, K.7
Kamatani, N.8
Yoshimura, Y.9
Ogata, T.10
-
39
-
-
0032874438
-
Risk factors for cryptorchidism and hypospadias
-
Weidner IS, Møller H, Jensen TK, Skakkebaek NE (1999) Risk factors for cryptorchidism and hypospadias. J Urol 161(5):1606-1609
-
(1999)
J Urol
, vol.161
, Issue.5
, pp. 1606-1609
-
-
Weidner, I.S.1
Møller, H.2
Jensen, T.K.3
Skakkebaek, N.E.4
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