-
1
-
-
0035888110
-
Descriptive epidemiology of isolated anal anomalies: a survey of 4 6 million births in Europe
-
Cuschieri, A. (2001) Descriptive epidemiology of isolated anal anomalies: a survey of 4.6 million births in Europe. Am. J. Med. Genet., 103, 207-215.
-
(2001)
Am. J. Med. Genet.
, vol.103
, pp. 207-215
-
-
Cuschieri, A.1
-
2
-
-
33646105372
-
Neonatal management of trisomy 18 clinical details of 24 patients receiving intensive treatment
-
Kosho, T., Nakamura, T., Kawame, H., Baba, A., Tamura, M. and Fukushima, Y. (2006) Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment. Am. J. Med. Genet. A., 140, 937-944.
-
(2006)
Am. J. Med. Genet. A.
, vol.140
, pp. 937-944
-
-
Kosho, T.1
Nakamura, T.2
Kawame, H.3
Baba, A.4
Tamura, M.5
Fukushima, Y.6
-
3
-
-
33646095780
-
Clinical characteristics and survival of trisomy 18 in a medical center in Taipei 1988-2004
-
Lin, H.Y., Lin, S.P., Chen, Y.J., Hung, H.Y., Kao, H.A., Hsu, C.H., Chen, M.R., Chang, J.H., Ho, C.S., Huang, F.Y. et al. (2006) Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004. Am. J. Med. Genet. A., 140, 945-951.
-
(2006)
Am. J. Med. Genet. A.
, vol.140
, pp. 945-951
-
-
Lin, H.Y.1
Lin, S.P.2
Chen, Y.J.3
Hung, H.Y.4
Kao, H.A.5
Hsu, C.H.6
Chen, M.R.7
Chang, J.H.8
Ho, C.S.9
Huang, F.Y.10
-
4
-
-
60149085729
-
Anorectal malformation and Down's syndrome in monozygotic twins
-
de Buys Roessingh, A.S., Mueller, C., Wiesenauer, C., Bensoussan, A.L. and Beaunoyer, M. (2009) Anorectal malformation and Down's syndrome in monozygotic twins. J. Pediatr. Surg., 44, e13-e16.
-
(2009)
J. Pediatr. Surg.
, vol.44
-
-
de Buys Roessingh, A.S.1
Mueller, C.2
Wiesenauer, C.3
Bensoussan, A.L.4
Beaunoyer, M.5
-
6
-
-
34447294806
-
Associated malformations in patients with anorectal anomalies
-
Stoll, C., Alembik, Y., Dott, B. and Roth, M.P. (2007) Associated malformations in patients with anorectal anomalies. Eur. J. Med. Genet., 50, 281-290.
-
(2007)
Eur. J. Med. Genet.
, vol.50
, pp. 281-290
-
-
Stoll, C.1
Alembik, Y.2
Dott, B.3
Roth, M.P.4
-
7
-
-
79959731575
-
Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature
-
Schramm, C., Draaken, M., Tewes, G., Bartels, E., Schmiedeke, E., Marzheuser, S., Grasshoff-Derr, S., Hosie, S., Holland-Cunz, S., Priebe, L. et al. (2011) Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature. Eur. J. Pediatr., 170, 741-746.
-
(2011)
Eur. J. Pediatr.
, vol.170
, pp. 741-746
-
-
Schramm, C.1
Draaken, M.2
Tewes, G.3
Bartels, E.4
Schmiedeke, E.5
Marzheuser, S.6
Grasshoff-Derr, S.7
Hosie, S.8
Holland-Cunz, S.9
Priebe, L.10
-
8
-
-
0009413023
-
Sex-linked imperforate anus
-
Weinstein, E.D. (1965) Sex-linked imperforate anus. Pediatrics, 35, 715-718.
-
(1965)
Pediatrics
, vol.35
, pp. 715-718
-
-
Weinstein, E.D.1
-
9
-
-
0008113476
-
Familial anorectal anomalies
-
Vangelder, D.W. and Kloepfer, H.W. (1961) Familial anorectal anomalies. Pediatrics, 27, 334-336.
-
(1961)
Pediatrics
, vol.27
, pp. 334-336
-
-
Vangelder, D.W.1
Kloepfer, H.W.2
-
10
-
-
0021274031
-
Familial incidence of congenital anorectal anomalies
-
Schwoebel, M.G., Hirsig, J., Schinzel, A. and Stauffer, U.G. (1984) Familial incidence of congenital anorectal anomalies. J. Pediatr. Surg., 19, 179-182.
-
(1984)
J. Pediatr. Surg.
, vol.19
, pp. 179-182
-
-
Schwoebel, M.G.1
Hirsig, J.2
Schinzel, A.3
Stauffer, U.G.4
-
11
-
-
0031452757
-
Risk factors in congenital anal atresias
-
Stoll, C., Alembik, Y., Roth, M.P. and Dott, B. (1997) Risk factors in congenital anal atresias. Ann.Genet., 40, 197-204.
-
(1997)
Ann. Genet.
, vol.40
, pp. 197-204
-
-
Stoll, C.1
Alembik, Y.2
Roth, M.P.3
Dott, B.4
-
12
-
-
79960115310
-
Wnt5a expression in the hindgut of fetal rats with chemically induced anorectal malformations-studies in the ETU rat model
-
Jia, H., Chen, Q., Zhang, T., Bai, Y., Yuan, Z. and Wang, W. (2011) Wnt5a expression in the hindgut of fetal rats with chemically induced anorectal malformations-studies in the ETU rat model. Int. J. Colorectal. Dis., 26, 493-499.
-
(2011)
Int. J. Colorectal. Dis.
, vol.26
, pp. 493-499
-
-
Jia, H.1
Chen, Q.2
Zhang, T.3
Bai, Y.4
Yuan, Z.5
Wang, W.6
-
13
-
-
70249088658
-
Wnt5a knock-out mouse as a new model of anorectal malformation
-
Tai, C.C., Sala, F.G., Ford, H.R., Wang, K.S., Li, C., Minoo, P., Grikscheit, T.C. and Bellusci, S. (2009) Wnt5a knock-out mouse as a new model of anorectal malformation. J. Surg. Res., 156, 278-282.
-
(2009)
J. Surg. Res.
, vol.156
, pp. 278-282
-
-
Tai, C.C.1
Sala, F.G.2
Ford, H.R.3
Wang, K.S.4
Li, C.5
Minoo, P.6
Grikscheit, T.C.7
Bellusci, S.8
-
14
-
-
34347353237
-
Copy-number variation and association studies of human disease
-
McCarroll, S.A. and Altshuler, D.M. (2007) Copy-number variation and association studies of human disease. Nat. Genet., 39, S37-S42.
-
(2007)
Nat. Genet.
, vol.39
-
-
McCarroll, S.A.1
Altshuler, D.M.2
-
15
-
-
77950405093
-
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3 000 shared controls
-
Craddock, N., Hurles, M.E., Cardin, N., Pearson, R.D., Plagnol, V., Robson, S., Vukcevic, D., Barnes, C., Conrad, D.F., Giannoulatou, E. et al. (2010) Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature, 464, 713-720.
-
(2010)
Nature
, vol.464
, pp. 713-720
-
-
Craddock, N.1
Hurles, M.E.2
Cardin, N.3
Pearson, R.D.4
Plagnol, V.5
Robson, S.6
Vukcevic, D.7
Barnes, C.8
Conrad, D.F.9
Giannoulatou, E.10
-
16
-
-
79951946271
-
De novo microduplication at 22q11 21 in a patient with VACTERL association.
-
Schramm, C., Draaken, M., Bartels, E., Boemers, T.M., Aretz, S., Brockschmidt, F.F., Nothen, M.M., Ludwig, M. and Reutter, H. (2011) De novo microduplication at 22q11.21 in a patient with VACTERL association. Eur. J. Med. Genet., 54, 9-13.
-
(2011)
Eur. J. Med. Genet.
, vol.54
, pp. 9-13
-
-
Schramm, C.1
Draaken, M.2
Bartels, E.3
Boemers, T.M.4
Aretz, S.5
Brockschmidt, F.F.6
Nothen, M.M.7
Ludwig, M.8
Reutter, H.9
-
17
-
-
0031904734
-
Phenotypic discordance in monozygotic twins with 22q11 2 deletion
-
Yamagishi, H., Ishii, C., Maeda, J., Kojima, Y., Matsuoka, R., Kimura, M., Takao, A., Momma, K. and Matsuo, N. (1998) Phenotypic discordance in monozygotic twins with 22q11.2 deletion. Am. J. Med. Genet., 78, 319-321.
-
(1998)
Am. J. Med. Genet.
, vol.78
, pp. 319-321
-
-
Yamagishi, H.1
Ishii, C.2
Maeda, J.3
Kojima, Y.4
Matsuoka, R.5
Kimura, M.6
Takao, A.7
Momma, K.8
Matsuo, N.9
-
18
-
-
0031035511
-
Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome? J
-
Worthington, S., Colley, A., Fagan, K., Dai, K. and Lipson, A.H. (1997) Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome? J. Med. Genet., 34, 79-82.
-
(1997)
Med. Genet.
, vol.34
, pp. 79-82
-
-
Worthington, S.1
Colley, A.2
Fagan, K.3
Dai, K.4
Lipson, A.H.5
-
19
-
-
0035313919
-
Misclassification risk of patients with bilateral cleft lip and palate and manifestations of median facial dysplasia: a new variant of del(22q11 2) syndrome?
-
Schulze, B.R., Tariverdian, G., Komposch, G. and Stellzig, A. (2001) Misclassification risk of patients with bilateral cleft lip and palate and manifestations of median facial dysplasia: a new variant of del(22q11.2) syndrome? Am. J. Med. Genet., 99, 280-285.
-
(2001)
Am. J. Med. Genet.
, vol.99
, pp. 280-285
-
-
Schulze, B.R.1
Tariverdian, G.2
Komposch, G.3
Stellzig, A.4
-
20
-
-
80054892453
-
Chromosomal anomalies in the etiology of anorectal malformations: a review
-
Marcelis, C., de Blaauw, I. and Brunner, H. (2011) Chromosomal anomalies in the etiology of anorectal malformations: a review. Am. J. Med. Genet. A, 155, 2692-2704.
-
(2011)
Am. J. Med. Genet. A
, vol.155
, pp. 2692-2704
-
-
Marcelis, C.1
de Blaauw, I.2
Brunner, H.3
-
21
-
-
0034880142
-
Anorectal malformations caused by defects in sonic hedgehog signaling
-
Mo, R., Kim, J.H., Zhang, J., Chiang, C., Hui, C.C. and Kim, P.C. (2001) Anorectal malformations caused by defects in sonic hedgehog signaling. Am. J. Pathol., 159, 765-774.
-
(2001)
Am. J. Pathol.
, vol.159
, pp. 765-774
-
-
Mo, R.1
Kim, J.H.2
Zhang, J.3
Chiang, C.4
Hui, C.C.5
Kim, P.C.6
-
22
-
-
77951234510
-
Loss of Dact1 disrupts planar cell polarity signaling by altering dishevelled activity and leads to posterior malformation in mice
-
Wen, J., Chiang, Y.J., Gao, C., Xue, H., Xu, J., Ning, Y., Hodes, R.J., Gao, X. and Chen, Y.G. (2010) Loss of Dact1 disrupts planar cell polarity signaling by altering dishevelled activity and leads to posterior malformation in mice. J. Biol. Chem., 285, 11023-11030.
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 11023-11030
-
-
Wen, J.1
Chiang, Y.J.2
Gao, C.3
Xue, H.4
Xu, J.5
Ning, Y.6
Hodes, R.J.7
Gao, X.8
Chen, Y.G.9
-
23
-
-
33644624937
-
Ciliogenesis defects in embryos lacking inturned or fuzzy function are associated with failure of planar cell polarity and Hedgehog signaling
-
Park, T.J., Haigo, S.L. and Wallingford, J.B. (2006) Ciliogenesis defects in embryos lacking inturned or fuzzy function are associated with failure of planar cell polarity and Hedgehog signaling. Nat. Genet., 38, 303-311.
-
(2006)
Nat. Genet.
, vol.38
, pp. 303-311
-
-
Park, T.J.1
Haigo, S.L.2
Wallingford, J.B.3
-
24
-
-
77955601624
-
The relationship between sonic Hedgehog signaling, cilia, and neural tube defects
-
Murdoch, J.N. and Copp, A.J. (2010) The relationship between sonic Hedgehog signaling, cilia, and neural tube defects. Birth Defects Res. A. Clin. Mol. Teratol., 88, 633-652.
-
(2010)
Birth Defects Res. A. Clin. Mol. Teratol.
, vol.88
, pp. 633-652
-
-
Murdoch, J.N.1
Copp, A.J.2
-
25
-
-
77149146791
-
PCP effector gene Inturned is an important regulator of cilia formation and embryonic development in mammals
-
Zeng, H., Hoover, A.N. and Liu, A. (2010) PCP effector gene Inturned is an important regulator of cilia formation and embryonic development in mammals. Dev. Biol., 339, 418-428.
-
(2010)
Dev. Biol.
, vol.339
, pp. 418-428
-
-
Zeng, H.1
Hoover, A.N.2
Liu, A.3
-
26
-
-
76049114315
-
Gli2 trafficking links Hedgehog-dependent activation of Smoothened in the primary cilium to transcriptional activation in the nucleus
-
Kim, J., Kato, M. and Beachy, P.A. (2009) Gli2 trafficking links Hedgehog-dependent activation of Smoothened in the primary cilium to transcriptional activation in the nucleus. Proc. Natl Acad. Sci. USA, 106, 21666-21671.
-
(2009)
Proc. Natl Acad. Sci. USA
, vol.106
, pp. 21666-21671
-
-
Kim, J.1
Kato, M.2
Beachy, P.A.3
-
27
-
-
77951101203
-
The primary cilium: a signalling centre during vertebrate development
-
Goetz, S.C. and Anderson, K.V. (2010) The primary cilium: a signalling centre during vertebrate development. Nat. Rev. Genet., 11, 331-344.
-
(2010)
Nat. Rev. Genet.
, vol.11
, pp. 331-344
-
-
Goetz, S.C.1
Anderson, K.V.2
-
28
-
-
77953662946
-
The primary cilium as a Hedgehog signal transduction machine
-
Goetz, S.C., Ocbina, P.J. and Anderson, K.V. (2009) The primary cilium as a Hedgehog signal transduction machine. Methods Cell Biol., 94, 199-222.
-
(2009)
Methods Cell Biol
, vol.94
, pp. 199-222
-
-
Goetz, S.C.1
Ocbina, P.J.2
Anderson, K.V.3
-
29
-
-
33845359084
-
Function and biological roles of the Dickkopf family of Wnt modulators
-
Niehrs, C. (2006) Function and biological roles of the Dickkopf family of Wnt modulators. Oncogene, 25, 7469-7481.
-
(2006)
Oncogene
, vol.25
, pp. 7469-7481
-
-
Niehrs, C.1
-
30
-
-
70349912193
-
Induction of Wnt5a-expressing mesenchymal cells adjacent to the cloacal plate is an essential process for its proximodistal elongation and subsequent anorectal development
-
Nakata, M., Takada, Y., Hishiki, T., Saito, T., Terui, K., Sato, Y., Koseki, H. and Yoshida, H. (2009) Induction of Wnt5a-expressing mesenchymal cells adjacent to the cloacal plate is an essential process for its proximodistal elongation and subsequent anorectal development. Pediatr. Res., 66, 149-154.
-
(2009)
Pediatr. Res.
, vol.66
, pp. 149-154
-
-
Nakata, M.1
Takada, Y.2
Hishiki, T.3
Saito, T.4
Terui, K.5
Sato, Y.6
Koseki, H.7
Yoshida, H.8
-
31
-
-
31144469134
-
Structural variation in the human genome
-
Feuk, L., Carson, A.R. and Scherer, S.W. (2006) Structural variation in the human genome. Nat. Rev. Genet., 7, 85-97.
-
(2006)
Nat. Rev. Genet.
, vol.7
, pp. 85-97
-
-
Feuk, L.1
Carson, A.R.2
Scherer, S.W.3
-
32
-
-
77950461601
-
Origins and functional impact of copy number variation in the human genome
-
Conrad, D.F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y., Aerts, J., Andrews, T.D., Barnes, C., Campbell, P. et al. (2010) Origins and functional impact of copy number variation in the human genome. Nature, 464, 704-712.
-
(2010)
Nature
, vol.464
, pp. 704-712
-
-
Conrad, D.F.1
Pinto, D.2
Redon, R.3
Feuk, L.4
Gokcumen, O.5
Zhang, Y.6
Aerts, J.7
Andrews, T.D.8
Barnes, C.9
Campbell, P.10
-
33
-
-
80755187820
-
Human copy number variation and complex genetic disease
-
Girirajan, S., Campbell, C.D. and Eichler, E.E. (2011) Human copy number variation and complex genetic disease. Ann. Rev. Genet., 45, 203-226.
-
(2011)
Ann. Rev. Genet.
, vol.45
, pp. 203-226
-
-
Girirajan, S.1
Campbell, C.D.2
Eichler, E.E.3
-
34
-
-
34347361618
-
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
-
Lee, C., Iafrate, A.J. and Brothman, A.R. (2007) Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat. Genet., 39, S48-S54.
-
(2007)
Nat. Genet.
, vol.39
-
-
Lee, C.1
Iafrate, A.J.2
Brothman, A.R.3
-
35
-
-
34347348166
-
Challenges and standards in integrating surveys of structural variation
-
Scherer, S.W., Lee, C., Birney, E., Altshuler, D.M., Eichler, E.E., Carter, N.P., Hurles, M.E. and Feuk, L. (2007) Challenges and standards in integrating surveys of structural variation. Nat. Genet., 39, S7-15.
-
(2007)
Nat. Genet.
, vol.39
-
-
Scherer, S.W.1
Lee, C.2
Birney, E.3
Altshuler, D.M.4
Eichler, E.E.5
Carter, N.P.6
Hurles, M.E.7
Feuk, L.8
-
36
-
-
52249090865
-
Mutational analysis of SHH and GLI3 in anorectal malformations
-
Garcia-Barcelo, M.M., Chi-Hang Lui, V., Miao, X., So, M.T., Yuk-yu Leon, T., Yuan, Z.W., Li, L., Liu, L., Wang, B., Sun, X.B. et al. (2008) Mutational analysis of SHH and GLI3 in anorectal malformations. Birth Defects Res. A. Clin. Mol. Teratol., 82, 644-648.
-
(2008)
Birth Defects Res. A. Clin. Mol. Teratol.
, vol.82
, pp. 644-648
-
-
Garcia-Barcelo, M.M.1
Chi-Hang Lui, V.2
Miao, X.3
So, M.T.4
Yuk-yu Leon, T.5
Yuan, Z.W.6
Li, L.7
Liu, L.8
Wang, B.9
Sun, X.B.10
-
37
-
-
73949088537
-
Wnt won the war: antagonistic role of Wnt over Shh controls dorso-ventral patterning of the vertebrate neural tube
-
Ulloa, F. and Marti, E. (2010) Wnt won the war: antagonistic role of Wnt over Shh controls dorso-ventral patterning of the vertebrate neural tube. Dev Dyn, 239, 69-76.
-
(2010)
Dev Dyn
, vol.239
, pp. 69-76
-
-
Ulloa, F.1
Marti, E.2
-
38
-
-
0037097359
-
Anorectal anomalies associated with or as part of other anomalies
-
Cuschieri, A. (2002) Anorectal anomalies associated with or as part of other anomalies. Am. J. Med. Genet., 110, 122-130.
-
(2002)
Am. J. Med. Genet.
, vol.110
, pp. 122-130
-
-
Cuschieri, A.1
-
39
-
-
84863173053
-
A genome-wide linkage and association scan reveals novel loci for hypertension and blood pressure traits
-
Guo, Y., Tomlinson, B., Chu, T., Fang, Y.J., Gui, H., Tang, C.S., Yip, B.H., Cherny, S.S., Hur, Y.M., Sham, P.C. et al. (2012) A genome-wide linkage and association scan reveals novel loci for hypertension and blood pressure traits. PloS One, 7, e31489.
-
(2012)
PloS One
, vol.7
-
-
Guo, Y.1
Tomlinson, B.2
Chu, T.3
Fang, Y.J.4
Gui, H.5
Tang, C.S.6
Yip, B.H.7
Cherny, S.S.8
Hur, Y.M.9
Sham, P.C.10
-
40
-
-
84863012719
-
Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese
-
Guo, Y., Baum, L.W., Sham, P.C., Wong, V., Ng, P.W., Lui, C.H., Sin, N.C., Tsoi, T.H., Tang, C.S., Kwan, J.S. et al. (2012) Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese. Hum. Mol. Genet., 21, 1184-1189.
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 1184-1189
-
-
Guo, Y.1
Baum, L.W.2
Sham, P.C.3
Wong, V.4
Ng, P.W.5
Lui, C.H.6
Sin, N.C.7
Tsoi, T.H.8
Tang, C.S.9
Kwan, J.S.10
-
41
-
-
77649206245
-
Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus
-
Yang, W., Shen, N., Ye, D.Q., Liu, Q., Zhang, Y., Qian, X.X., Hirankarn, N., Ying, D., Pan, H.F., Mok, C.C. et al. (2010) Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus. PLoS Genet., 6, e1000841.
-
(2010)
PLoS Genet
, vol.6
-
-
Yang, W.1
Shen, N.2
Ye, D.Q.3
Liu, Q.4
Zhang, Y.5
Qian, X.X.6
Hirankarn, N.7
Ying, D.8
Pan, H.F.9
Mok, C.C.10
-
42
-
-
76249108602
-
Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies
-
Kung, A.W., Xiao, S.M., Cherny, S., Li, G.H., Gao, Y., Tso, G., Lau, K.S., Luk, K.D., Liu, J.M., Cui, B. et al. (2010) Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies. Am. J. Hum. Genet., 86, 229-239.
-
(2010)
Am. J. Hum. Genet.
, vol.86
, pp. 229-239
-
-
Kung, A.W.1
Xiao, S.M.2
Cherny, S.3
Li, G.H.4
Gao, Y.5
Tso, G.6
Lau, K.S.7
Luk, K.D.8
Liu, J.M.9
Cui, B.10
-
43
-
-
35948984173
-
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
-
Wang, K., Li, M., Hadley, D., Liu, R., Glessner, J., Grant, S.F., Hakonarson, H. and Bucan, M. (2007) PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res., 17, 1665-1674.
-
(2007)
Genome Res
, vol.17
, pp. 1665-1674
-
-
Wang, K.1
Li, M.2
Hadley, D.3
Liu, R.4
Glessner, J.5
Grant, S.F.6
Hakonarson, H.7
Bucan, M.8
-
44
-
-
34247877877
-
QuantiSNP: an objective Bayes hidden-Markov model to detect and accurately map copy number variation using SNP genotyping data
-
Colella, S., Yau, C., Taylor, J.M., Mirza, G., Butler, H., Clouston, P., Bassett, A.S., Seller, A., Holmes, C.C. and Ragoussis, J. (2007) QuantiSNP: an objective Bayes hidden-Markov model to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Res., 35, 2013-2025.
-
(2007)
Nucleic Acids Res
, vol.35
, pp. 2013-2025
-
-
Colella, S.1
Yau, C.2
Taylor, J.M.3
Mirza, G.4
Butler, H.5
Clouston, P.6
Bassett, A.S.7
Seller, A.8
Holmes, C.C.9
Ragoussis, J.10
-
45
-
-
77953974065
-
Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays
-
Dellinger, A.E., Saw, S.M., Goh, L.K., Seielstad, M., Young, T.L. and Li, Y.J. (2010) Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays. Nucleic Acids Res., 38, e105.
-
(2010)
Nucleic Acids Res
, vol.38
-
-
Dellinger, A.E.1
Saw, S.M.2
Goh, L.K.3
Seielstad, M.4
Young, T.L.5
Li, Y.J.6
-
46
-
-
79958162661
-
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
-
Pinto, D., Darvishi, K., Shi, X., Rajan, D., Rigler, D., Fitzgerald, T., Lionel, A.C., Thiruvahindrapuram, B., Macdonald, J.R., Mills, R. et al. (2011) Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat. Biotechnol., 29, 512-520.
-
(2011)
Nat. Biotechnol.
, vol.29
, pp. 512-520
-
-
Pinto, D.1
Darvishi, K.2
Shi, X.3
Rajan, D.4
Rigler, D.5
Fitzgerald, T.6
Lionel, A.C.7
Thiruvahindrapuram, B.8
Macdonald, J.R.9
Mills, R.10
-
47
-
-
70350452178
-
Estrogen effects on fetal penile and urethral development in organotypic mouse genital tubercle culture
-
Ma, L.M., Wang, Z., Wang, H., Li, R.S., Zhou, J., Liu, B.C. and Baskin, L.S. (2009) Estrogen effects on fetal penile and urethral development in organotypic mouse genital tubercle culture. J. Urol., 182, 2511-2517.
-
(2009)
J. Urol.
, vol.182
, pp. 2511-2517
-
-
Ma, L.M.1
Wang, Z.2
Wang, H.3
Li, R.S.4
Zhou, J.5
Liu, B.C.6
Baskin, L.S.7
|