-
1
-
-
70449629175
-
Cleft lip and palate
-
Mossey, P.A., Little, J., Munger, R.G., Dixon, M. and Shaw, W.C. (2009) Cleft lip and palate. Lancet, 374, 1773-1785.
-
(2009)
Lancet
, vol.374
, pp. 1773-1785
-
-
Mossey, P.A.1
Little, J.2
Munger, R.G.3
Dixon, M.4
Shaw, W.C.5
-
2
-
-
84871493675
-
Africa has unique and urgent barriers to cleft care: Lessons from practitioners at the Pan-African Congress on cleft lip and palate
-
Adetayo, O., Ford, R. and Martin, M. (2012) Africa has unique and urgent barriers to cleft care: lessons from practitioners at the Pan-African Congress on cleft lip and palate. Pan Afr. Med. J., 12, 15.
-
(2012)
Pan Afr. Med. J.
, vol.12
, pp. 15
-
-
Adetayo, O.1
Ford, R.2
Martin, M.3
-
3
-
-
84958590707
-
Quality of life of family caregivers of children with orofacial clefts in Nigeria: A mixed-methods study
-
Awoyale, T.A., Onajole, A.T., Ogunnowo, B.E., Adeyemo, W.L., Wanyonyi, K.L. and Butali, A. (2015) Quality of life of family caregivers of children with orofacial clefts in Nigeria: a mixed-methods study. Oral Dis., 22, 116-122.
-
(2015)
Oral Dis.
, vol.22
, pp. 116-122
-
-
Awoyale, T.A.1
Onajole, A.T.2
Ogunnowo, B.E.3
Adeyemo, W.L.4
Wanyonyi, K.L.5
Butali, A.6
-
4
-
-
79951800135
-
Cleft lip and palate: Understanding genetic and environmental influences
-
Dixon, M.J., Marazita, M.L., Beaty, T.H. and Murray, J.C. (2011) Cleft lip and palate: understanding genetic and environmental influences. Nat. Rev. Genet., 12, 167-178.
-
(2011)
Nat. Rev. Genet.
, vol.12
, pp. 167-178
-
-
Dixon, M.J.1
Marazita, M.L.2
Beaty, T.H.3
Murray, J.C.4
-
5
-
-
63449105241
-
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
-
Birnbaum, S., Ludwig, K.U., Reutter, H., Herms, S., Steffens, M., Rubini, M., Baluardo, C., Ferrian, M., Almeida de Assis, N., Alblas, M.A. et al. (2011) Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat. Genet., 41, 473-477.
-
(2011)
Nat. Genet.
, vol.41
, pp. 473-477
-
-
Birnbaum, S.1
Ludwig, K.U.2
Reutter, H.3
Herms, S.4
Steffens, M.5
Rubini, M.6
Baluardo, C.7
Ferrian, M.8
Almeida-De-Assis, N.9
Alblas, M.A.10
-
6
-
-
73949148687
-
A genome-wide association study identifies a locus for non-syndromic cleft lip with or without cleft palate on 8q24
-
Grant, S.F., Wang, K., Zhang, H., Glaberson, W., Annaiah, K., Kim, C.E., Bradfield, J.P., Glessner, J.T., Thomas, K.A., Garris, M. et al. (2009) A genome-wide association study identifies a locus for non-syndromic cleft lip with or without cleft palate on 8q24. J. Pediatr., 155, 909-913.
-
(2009)
J. Pediatr.
, vol.155
, pp. 909-913
-
-
Grant, S.F.1
Wang, K.2
Zhang, H.3
Glaberson, W.4
Annaiah, K.5
Kim, C.E.6
Bradfield, J.P.7
Glessner, J.T.8
Thomas, K.A.9
Garris, M.10
-
7
-
-
73349086542
-
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate
-
Mangold, E., Ludwig, K.U., Birnbaum, S., Baluardo, C., Ferrian, M., Herms, S., Reutter, H., de Assis, N.A., Chawa, T.A., Mattheisen, M. et al. (2009) Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat. Genet., 42, 24-26.
-
(2009)
Nat. Genet.
, vol.42
, pp. 24-26
-
-
Mangold, E.1
Ludwig, K.U.2
Birnbaum, S.3
Baluardo, C.4
Ferrian, M.5
Herms, S.6
Reutter, H.7
De-Assis, N.A.8
Chawa, T.A.9
Mattheisen, M.10
-
8
-
-
77952886672
-
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
-
Beaty, T.H., Murray, J.C., Marazita, M.L., Munger, R.G., Ruczinski, I., Hetmanski, J.B., Liang, K.Y., Wu, T., Murray, T., Fallin, M.D. et al. (2010) A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat. Genet., 42, 525-529.
-
(2010)
Nat. Genet.
, vol.42
, pp. 525-529
-
-
Beaty, T.H.1
Murray, J.C.2
Marazita, M.L.3
Munger, R.G.4
Ruczinski, I.5
Hetmanski, J.B.6
Liang, K.Y.7
Wu, T.8
Murray, T.9
Fallin, M.D.10
-
9
-
-
84865685465
-
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci
-
Ludwig, K.U., Mangold, E., Herms, S., Nowak, S., Reutter, H., Paul, A., Becker, J., Herberz, R., Aichawa, T., Nasser, E. et al. (2012) Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. Nat. Genet., 44, 968-971.
-
(2012)
Nat. Genet.
, vol.44
, pp. 968-971
-
-
Ludwig, K.U.1
Mangold, E.2
Herms, S.3
Nowak, S.4
Reutter, H.5
Paul, A.6
Becker, J.7
Herberz, R.8
Aichawa, T.9
Nasser, E.10
-
10
-
-
84928478220
-
Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate
-
Sun, Y., Huang, Y., Yin, A., Pan, Y., Wang, Y., Wang, C., Du, Y., Wang, M., Lan, F., Hu, Z. et al. (2015) Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate. Nat. Commun., 6, 6414.
-
(2015)
Nat. Commun.
, vol.6
, pp. 6414
-
-
Sun, Y.1
Huang, Y.2
Yin, A.3
Pan, Y.4
Wang, Y.5
Wang, C.6
Du, Y.7
Wang, M.8
Lan, F.9
Hu, Z.10
-
11
-
-
85016059513
-
A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13
-
Leslie, E.J., Carlson, J.C., Shaffer, J.R., Feingold, E., Wehby, G., Laurie, C.A., Jain, D., Laurie, C.C., Doheny, K.F., McHenry, T. et al. (2016) A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13. Hum. Mol. Genet., 25, 2862-2872.
-
(2016)
Hum. Mol. Genet.
, vol.25
, pp. 2862-2872
-
-
Leslie, E.J.1
Carlson, J.C.2
Shaffer, J.R.3
Feingold, E.4
Wehby, G.5
Laurie, C.A.6
Jain, D.7
Laurie, C.C.8
Doheny, K.F.9
McHenry, T.10
-
12
-
-
84964895172
-
A genome-wide association study of nonsyndromic cleft palate identifies an etiologic missense variant in GRHL3
-
Leslie, E.J., Liu, H., Carlson, J.C., Shaffer, J.R., Feingold, E., Wehby, G., Laurie, C.A., Jain, D., Laurie, C.C., Doheny, K.F. et al. (2016) A genome-wide association study of nonsyndromic cleft palate identifies an etiologic missense variant in GRHL3. Am. J. Hum. Genet., 98, 744-754.
-
(2016)
Am. J. Hum. Genet.
, vol.98
, pp. 744-754
-
-
Leslie, E.J.1
Liu, H.2
Carlson, J.C.3
Shaffer, J.R.4
Feingold, E.5
Wehby, G.6
Laurie, C.A.7
Jain, D.8
Laurie, C.C.9
Doheny, K.F.10
-
13
-
-
84964894086
-
Sequencing the GRHL3 coding region reveals rare truncating mutations and a common susceptibility variant for nonsyndromic cleft palate
-
Mangold, E., Bohmer, A.C., Ishorst, N., Hoebel, A.K., Gultepe, P., Schuenke, H., Klamt, J., Hofmann, A., Golz, L., Raff, R. et al. (2016) Sequencing the GRHL3 coding region reveals rare truncating mutations and a common susceptibility variant for nonsyndromic cleft palate. Am. J. Hum. Genet., 98, 755-762.
-
(2016)
Am. J. Hum. Genet.
, vol.98
, pp. 755-762
-
-
Mangold, E.1
Bohmer, A.C.2
Ishorst, N.3
Hoebel, A.K.4
Gultepe, P.5
Schuenke, H.6
Klamt, J.7
Hofmann, A.8
Golz, L.9
Raff, R.10
-
14
-
-
85008182706
-
Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate
-
Leslie, E.J., Carlson, J.C., Shaffer, J.R., Butali, A., Buxo, C.J., Castilla, E.E., Christensen, K., Deleyiannis, F.W., Leigh Field, L., Hecht, J.T. et al. (2017) Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. Hum. Genet., 136, 275-286.
-
(2017)
Hum. Genet.
, vol.136
, pp. 275-286
-
-
Leslie, E.J.1
Carlson, J.C.2
Shaffer, J.R.3
Butali, A.4
Buxo, C.J.5
Castilla, E.E.6
Christensen, K.7
Deleyiannis, F.W.8
Leigh-Field, L.9
Hecht, J.T.10
-
15
-
-
84962446651
-
Meta-analysis reveals genome-wide significance at 15q13 for nonsyndromic clefting of both the lip and the palate, and functional analyses implicate GREM1 as a plausible causative gene
-
Ludwig, K.U., Ahmed, S.T., Bohmer, A.C., Sangani, N.B., Varghese, S., Klamt, J., Schuenke, H., Gultepe, P., Hofmann, A., Rubini, M. et al. (2016) Meta-analysis reveals genome-wide significance at 15q13 for nonsyndromic clefting of both the lip and the palate, and functional analyses implicate GREM1 as a plausible causative gene. PLoS Genet., 12, e1005914.
-
(2016)
PLoS Genet.
, vol.12
-
-
Ludwig, K.U.1
Ahmed, S.T.2
Bohmer, A.C.3
Sangani, N.B.4
Varghese, S.5
Klamt, J.6
Schuenke, H.7
Gultepe, P.8
Hofmann, A.9
Rubini, M.10
-
16
-
-
85013747384
-
Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity
-
Yu, Y., Zuo, X., He, M., Gao, J., Fu, Y., Qin, C., Meng, L., Wang, W., Song, Y., Cheng, Y. et al. (2017) Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. Nat. Commun., 8, 14364.
-
(2017)
Nat. Commun.
, vol.8
, pp. 14364
-
-
Yu, Y.1
Zuo, X.2
He, M.3
Gao, J.4
Fu, Y.5
Qin, C.6
Meng, L.7
Wang, W.8
Song, Y.9
Cheng, Y.10
-
17
-
-
0037370384
-
The application of molecular genetic approaches to the study of human evolution
-
Cavalli-Sforza, L.L. and Feldman, M.W. (2003) The application of molecular genetic approaches to the study of human evolution. Nat. Genet., 33, 266-275.
-
(2003)
Nat. Genet.
, vol.33
, pp. 266-275
-
-
Cavalli-Sforza, L.L.1
Feldman, M.W.2
-
18
-
-
84856035196
-
Africa: The next frontier for human disease gene discovery
-
Ramsay, M., Tiemessen, C.T., Choudhury, A. and Soodyall, H. (2011) Africa: the next frontier for human disease gene discovery. Hum. Mol. Genet., 20, R214-R220.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. R214-R220
-
-
Ramsay, M.1
Tiemessen, C.T.2
Choudhury, A.3
Soodyall, H.4
-
19
-
-
77955270907
-
Novel insight into the function and regulation of αn-catenin by Snail2 during chick neural crest cell migration
-
Jhingory, S., Wu, C.Y. and Taneyhill, L.A. (2010) Novel insight into the function and regulation of αN-catenin by Snail2 during chick neural crest cell migration. Dev. Biol., 344, 896-910.
-
(2010)
Dev. Biol.
, vol.344
, pp. 896-910
-
-
Jhingory, S.1
Wu, C.Y.2
Taneyhill, L.A.3
-
20
-
-
84970015769
-
FINEMAP: Efficient variable selection using summary data from genome-wide association studies
-
Benner, C., Spencer, C.C., Havulinna, A.S., Salomaa, V., Ripatti, S. and Pirinen, M. (2016) FINEMAP: efficient variable selection using summary data from genome-wide association studies. Bioinformatics, 32, 1493-1501.
-
(2016)
Bioinformatics
, vol.32
, pp. 1493-1501
-
-
Benner, C.1
Spencer, C.C.2
Havulinna, A.S.3
Salomaa, V.4
Ripatti, S.5
Pirinen, M.6
-
21
-
-
0034264489
-
Establishment of a human polyclonal oral epithelial cell line
-
Gilchrist, E.P., Moyer, M.P., Shillitoe, E.J., Clare, N. and Murrah, V.A. (2000) Establishment of a human polyclonal oral epithelial cell line. Oral Surg. Oral Med. Oral Pathol. Oral Radiol. Endod., 90, 340-347.
-
(2000)
Oral Surg. Oral Med. Oral Pathol. Oral Radiol. Endod.
, vol.90
, pp. 340-347
-
-
Gilchrist, E.P.1
Moyer, M.P.2
Shillitoe, E.J.3
Clare, N.4
Murrah, V.A.5
-
22
-
-
0019859071
-
Interaction between glucocorticoids and epidermal growth factor in vitro in the growth of palatal mesenchymal cells from the human embryo
-
Yoneda, T. and Pratt, R.M. (1981) Interaction between glucocorticoids and epidermal growth factor in vitro in the growth of palatal mesenchymal cells from the human embryo. Differentiation, 19, 194-198.
-
(1981)
Differentiation
, vol.19
, pp. 194-198
-
-
Yoneda, T.1
Pratt, R.M.2
-
23
-
-
85163248579
-
Figure 11.14: Model of attachment of actin filaments to catenin-cadherin complexes
-
2nd edn. Sinauer Associates, Sunderland, Massachusetts
-
Cooper, G.M. (2000) Figure 11.14: model of attachment of actin filaments to catenin-cadherin complexes. In The Cell: A Molecular Approach, 2nd edn. Sinauer Associates, Sunderland, Massachusetts.
-
(2000)
The Cell: A Molecular Approach
-
-
Cooper, G.M.1
-
24
-
-
84904246196
-
Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts
-
Bureau, A., Parker, M.M., Ruczinski, I., Taub, M.A., Marazita, M.L., Murray, J.C., Mangold, E., Noethen, M.M., Ludwig, K.U. and Hetmanski, J.B. (2014) Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts. Genetics, 197, 1039-1044.
-
(2014)
Genetics
, vol.197
, pp. 1039-1044
-
-
Bureau, A.1
Parker, M.M.2
Ruczinski, I.3
Taub, M.A.4
Marazita, M.L.5
Murray, J.C.6
Mangold, E.7
Noethen, M.M.8
Ludwig, K.U.9
Hetmanski, J.B.10
-
25
-
-
84944156790
-
Rare variants in the epithelial cadherin gene underlying the genetic etiology of nonsyndromic cleft lip with or without cleft palate
-
Brito, L.A., Yamamoto, G.L., Melo, S., Malcher, C., Ferreira, S.G., Figueiredo, J., Alvizi, L., Kobayashi, G.S., Naslavsky, M.S., Alonso, N. et al. (2015) Rare variants in the epithelial cadherin gene underlying the genetic etiology of nonsyndromic cleft lip with or without cleft palate. Hum. Mutat., 36, 1029-1033.
-
(2015)
Hum. Mutat.
, vol.36
, pp. 1029-1033
-
-
Brito, L.A.1
Yamamoto, G.L.2
Melo, S.3
Malcher, C.4
Ferreira, S.G.5
Figueiredo, J.6
Alvizi, L.7
Kobayashi, G.S.8
Naslavsky, M.S.9
Alonso, N.10
-
26
-
-
85016952364
-
Clinical relevance of breast and gastric cancer-associated polymorphisms as potential susceptibility markers for oral clefts in the Brazilian population
-
Machado, R.A., de Freitas, E.M., de Aquino, S.N., Martelli, D.R., Swerts, M.S., Reis, S.R., Persuhn, D.C., Moreira, H.S., Dias, V.O., Coletta, R.D. et al. (2017) Clinical relevance of breast and gastric cancer-associated polymorphisms as potential susceptibility markers for oral clefts in the Brazilian population. BMC Med. Genet., 18, 39.
-
(2017)
BMC Med. Genet.
, vol.18
, pp. 39
-
-
Machado, R.A.1
De-Freitas, E.M.2
De-Aquino, S.N.3
Martelli, D.R.4
Swerts, M.S.5
Reis, S.R.6
Persuhn, D.C.7
Moreira, H.S.8
Dias, V.O.9
Coletta, R.D.10
-
27
-
-
85013226646
-
Association of single-nucleotide polymorphisms of CDH1 with nonsyndromic cleft lip with or without cleft palate in a northern Chinese Han population
-
Song, H., Wang, X., Yan, J., Mi, N., Jiao, X., Hao, Y., Zhang, W. and Gao, Y. (2017) Association of single-nucleotide polymorphisms of CDH1 with nonsyndromic cleft lip with or without cleft palate in a northern Chinese Han population. Medicine (Baltimore), 96, e5574.
-
(2017)
Medicine (Baltimore)
, vol.96
-
-
Song, H.1
Wang, X.2
Yan, J.3
Mi, N.4
Jiao, X.5
Hao, Y.6
Zhang, W.7
Gao, Y.8
-
28
-
-
85047177490
-
Mutations in the epithelial cadherin-p120- catenin complex cause Mendelian non-syndromic cleft lip with or without cleft palate
-
Cox, L.L., Cox, T.C., Moreno Uribe, L.M., Zhu, Y., Richter, C.T., Nidey, N., Standley, J.M., Deng, M., Blue, E., Chong, J.X. et al. (2018) Mutations in the epithelial cadherin-p120- catenin complex cause Mendelian non-syndromic cleft lip with or without cleft palate. Am. J. Hum. Genet., 102, 1143-1157.
-
(2018)
Am. J. Hum. Genet.
, vol.102
, pp. 1143-1157
-
-
Cox, L.L.1
Cox, T.C.2
Moreno-Uribe, L.M.3
Zhu, Y.4
Richter, C.T.5
Nidey, N.6
Standley, J.M.7
Deng, M.8
Blue, E.9
Chong, J.X.10
-
29
-
-
0027525105
-
Identification of human activin and TGF beta type i receptors that form heteromeric kinase complexes with type II receptors
-
Attisano, L., Carcamo, J., Ventura, F., Weis, F.M., Massague, J. and Wrana, J.L. (1993) Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors. Cell, 75, 671-680.
-
(1993)
Cell
, vol.75
, pp. 671-680
-
-
Attisano, L.1
Carcamo, J.2
Ventura, F.3
Weis, F.M.4
Massague, J.5
Wrana, J.L.6
-
30
-
-
0028929864
-
Different phenotypes for mice deficient in either activins or activin receptor type II
-
Matzuk, M.M., Kumar, T.R. and Bradley, A. (1995) Different phenotypes for mice deficient in either activins or activin receptor type II. Nature, 374, 356-360.
-
(1995)
Nature
, vol.374
, pp. 356-360
-
-
Matzuk, M.M.1
Kumar, T.R.2
Bradley, A.3
-
31
-
-
84886245599
-
Developmental and genetic perspectives on Pierre Robin sequence
-
Tan, T.Y., Kilpatrick, N. and Farlie, P.G. (2013) Developmental and genetic perspectives on Pierre Robin sequence. Am. J. Med. Genet. C Semin. Med. Genet., 163C, 295-305.
-
(2013)
Am. J. Med. Genet. C Semin. Med. Genet.
, vol.163 C
, pp. 295-305
-
-
Tan, T.Y.1
Kilpatrick, N.2
Farlie, P.G.3
-
32
-
-
37349025741
-
Activin subunit and receptor expression in normal and cleft human fetal palate tissues
-
Lambert-Messerlian, G., Eklund, E., Pinar, H., Tantravahi, U. and Schneyer, A.L. (2007) Activin subunit and receptor expression in normal and cleft human fetal palate tissues. Pediatr. Dev. Pathol., 10, 436-445.
-
(2007)
Pediatr. Dev. Pathol.
, vol.10
, pp. 436-445
-
-
Lambert-Messerlian, G.1
Eklund, E.2
Pinar, H.3
Tantravahi, U.4
Schneyer, A.L.5
-
33
-
-
9144235935
-
DACH1 inhibits transforming growth factor-beta signaling through binding Smad4
-
Wu, K., Yang, Y., Wang, C., Davoli, M.A., D'Amico, M., Li, A., Cveklova, K., Kozmik, Z., Lisanti, M.P., Russell, R.G. et al. (2003) DACH1 inhibits transforming growth factor-beta signaling through binding Smad4. J. Biol. Chem., 278, 51673-51684.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 51673-51684
-
-
Wu, K.1
Yang, Y.2
Wang, C.3
Davoli, M.A.4
D'Amico, M.5
Li, A.6
Cveklova, K.7
Kozmik, Z.8
Lisanti, M.P.9
Russell, R.G.10
-
34
-
-
0035135340
-
Dach1 mutant mice bear no gross abnormalities in eye, limb, and brain development and exhibit postnatal lethality
-
Davis, R.J., Shen, W., Sandler, Y.I., Amoui, M., Purcell, P., Maas, R., Ou, C.N., Vogel, H., Beaudet, A.L. and Mardon, G. (2001) Dach1 mutant mice bear no gross abnormalities in eye, limb, and brain development and exhibit postnatal lethality. Mol. Cell. Biol., 21, 1484-1490.
-
(2001)
Mol. Cell. Biol.
, vol.21
, pp. 1484-1490
-
-
Davis, R.J.1
Shen, W.2
Sandler, Y.I.3
Amoui, M.4
Purcell, P.5
Maas, R.6
Ou, C.N.7
Vogel, H.8
Beaudet, A.L.9
Mardon, G.10
-
35
-
-
0024454130
-
X-linkedmegalocornea: Close linkage to DXS87 and DXS94
-
Chen, J.D., Mackey, D., Fuller, H., Serravalle, S., Olsson, J. and Denton, M.J. (1989) X-linkedmegalocornea: close linkage to DXS87 and DXS94. Hum. Genet., 83, 292-294.
-
(1989)
Hum. Genet.
, vol.83
, pp. 292-294
-
-
Chen, J.D.1
Mackey, D.2
Fuller, H.3
Serravalle, S.4
Olsson, J.5
Denton, M.J.6
-
36
-
-
0026025786
-
Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31
-
Miles, J.H. and Carpenter, N.J. (1991) Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31. Am. J. Med. Genet., 38, 215-223.
-
(1991)
Am. J. Med. Genet.
, vol.38
, pp. 215-223
-
-
Miles, J.H.1
Carpenter, N.J.2
-
37
-
-
0026647270
-
Allan-Herndon-Dudley syndrome: Clinical and linkage studies on a second family
-
Bialer, M.G., Lawrence, L., Stevenson, R.E., Silverberg, G., Williams, M.K., Arena, J.F., Lubs, H.A. and Schwartz, C.E. (1992) Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family. Am. J. Med. Genet., 43, 491-497.
-
(1992)
Am. J. Med. Genet.
, vol.43
, pp. 491-497
-
-
Bialer, M.G.1
Lawrence, L.2
Stevenson, R.E.3
Silverberg, G.4
Williams, M.K.5
Arena, J.F.6
Lubs, H.A.7
Schwartz, C.E.8
-
38
-
-
0028957591
-
Refinement of the X-linked cleft palate and ankyloglossia (CPX) localisation by genetic mapping in an Icelandic kindred
-
Forbes, S.A., Richardson, M., Brennan, L., Arnason, A., Bjornsson, A., Campbell, L., Moore, G. and Stanier, P. (1995) Refinement of the X-linked cleft palate and ankyloglossia (CPX) localisation by genetic mapping in an Icelandic kindred. Hum. Genet., 95, 342-346.
-
(1995)
Hum. Genet.
, vol.95
, pp. 342-346
-
-
Forbes, S.A.1
Richardson, M.2
Brennan, L.3
Arnason, A.4
Bjornsson, A.5
Campbell, L.6
Moore, G.7
Stanier, P.8
-
39
-
-
84907598551
-
Novel sonic hedgehog mutation in a couple with variable expression of holoprosencephaly
-
Aguinaga, M., Llano, I., Zenteno, J.C. and Kofman, A.S. (2011) Novel sonic hedgehog mutation in a couple with variable expression of holoprosencephaly. Case Rep. Genet., 703497.
-
(2011)
Case Rep. Genet.
, pp. 703497
-
-
Aguinaga, M.1
Llano, I.2
Zenteno, J.C.3
Kofman, A.S.4
-
40
-
-
81055157789
-
New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases
-
Mercier, S., Dubourg, C., Garcelon, N., Campillo-Gimenez, B., Gicquel, I., Belleguic, M., Ratie, L., Pasquier, L., Loget, P. et al. (2011) New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases. J. Med. Genet., 48, 752-760.
-
(2011)
J. Med. Genet.
, vol.48
, pp. 752-760
-
-
Mercier, S.1
Dubourg, C.2
Garcelon, N.3
Campillo-Gimenez, B.4
Gicquel, I.5
Belleguic, M.6
Ratie, L.7
Pasquier, L.8
Loget, P.9
-
41
-
-
0037082945
-
Mutational analysis of the sonic hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) population
-
Orioli, I.M., Vieira, A.R., Castilla, E.E., Ming, J.E. and Muenke, M. (2002) Mutational analysis of the sonic hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) population. Am. J. Med. Genet., 108, 12-15.
-
(2002)
Am. J. Med. Genet.
, vol.108
, pp. 12-15
-
-
Orioli, I.M.1
Vieira, A.R.2
Castilla, E.E.3
Ming, J.E.4
Muenke, M.5
-
42
-
-
84955646174
-
A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population
-
de Araujo, T.K., Secolin, R., Felix, T.M., de Souza, L.T., Fontes, M.I., Monlleo, I.L., de Souza, J., Fett-Conte, A.C., Ribeiro, E.M. et al. (2016) A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population. J. Craniomaxillofac. Surg., 44, 16-20.
-
(2016)
J. Craniomaxillofac. Surg.
, vol.44
, pp. 16-20
-
-
De-Araujo, T.K.1
Secolin, R.2
Felix, T.M.3
De-Souza, L.T.4
Fontes, M.I.5
Monlleo, I.L.6
De-Souza, J.7
Fett-Conte, A.C.8
Ribeiro, E.M.9
-
43
-
-
15844381336
-
Human homolog of patched, a candidate gene for the basal cell nevus syndrome
-
Johnson, R.L., Rothman, A.L., Xie, J., Goodrich, L.V., Bare, J.W., Bonifas, J.M., Quinn, A.G., Myers, R.M., Cox, D.R., Epstein, E.H. Jr. et al. (1996) Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science, 272, 1668-1671.
-
(1996)
Science
, vol.272
, pp. 1668-1671
-
-
Johnson, R.L.1
Rothman, A.L.2
Xie, J.3
Goodrich, L.V.4
Bare, J.W.5
Bonifas, J.M.6
Quinn, A.G.7
Myers, R.M.8
Cox, D.R.9
Epstein, E.H.10
-
44
-
-
15844382075
-
A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities
-
Hahn Christiansen, J., Wicking, C., Zaphiropoulos, P.G., Chidambaram, A., Gerrard, B., Vorechovsky, I., Bale, A.E., Toftgard, R., Dean, M. et al. (1996) A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities. J. Biol. Chem., 271, 12125-12128.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 12125-12128
-
-
Hahn-Christiansen, J.1
Wicking, C.2
Zaphiropoulos, P.G.3
Chidambaram, A.4
Gerrard, B.5
Vorechovsky, I.6
Bale, A.E.7
Toftgard, R.8
Dean, M.9
-
45
-
-
0033754122
-
The sonic hedgehog-patched-gli pathway in human development and disease
-
Villavicencio, E.H., Walterhouse, D.O. and Iannaccone, P.M. (2000) The sonic hedgehog-patched-gli pathway in human development and disease. Am. J. Hum. Genet., 67, 1047-1054.
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 1047-1054
-
-
Villavicencio, E.H.1
Walterhouse, D.O.2
Iannaccone, P.M.3
-
46
-
-
0034753859
-
A mouse model for medulloblastoma and basal cell nevus syndrome
-
Corcoran, R.B. and Scott, M.P. (2002) A mouse model for medulloblastoma and basal cell nevus syndrome. J. Neurooncol., 53, 307-318.
-
(2002)
J. Neurooncol.
, vol.53
, pp. 307-318
-
-
Corcoran, R.B.1
Scott, M.P.2
-
47
-
-
32044471933
-
Contributions of PTCH gene variants to isolated cleft lip and palate
-
Mansilla, M.A., Cooper, M.E., Goldstein, T., Castilla, E.E., Lopez Camelo, J.S., Marazita, M.L. and Murray, J.C. (2017) Contributions of PTCH gene variants to isolated cleft lip and palate. Cleft Palate Craniofac. J., 43, 21-29.
-
(2017)
Cleft Palate Craniofac. J.
, vol.43
, pp. 21-29
-
-
Mansilla, M.A.1
Cooper, M.E.2
Goldstein, T.3
Castilla, E.E.4
Lopez-Camelo, J.S.5
Marazita, M.L.6
Murray, J.C.7
-
48
-
-
70450191205
-
FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate
-
Moreno, L.M., Mansilla, M.A., Bullard, S.A., Cooper, M.E., Busch, T.D., Machida, J., Johnson, M.K., Brauer, D., Krahn, K., Daack-Hirsch, S. et al. (2009) FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate. Hum. Mol. Genet., 18, 4879-4896.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 4879-4896
-
-
Moreno, L.M.1
Mansilla, M.A.2
Bullard, S.A.3
Cooper, M.E.4
Busch, T.D.5
Machida, J.6
Johnson, M.K.7
Brauer, D.8
Krahn, K.9
Daack-Hirsch, S.10
-
49
-
-
84988489513
-
Association studies and direct DNA sequencing implicate genetic susceptibility loci in the etiology of nonsyndromic orofacial clefts in sub-Saharan African populations
-
Gowans, L.J., Adeyemo, W.L., Eshete, M., Mossey, P.A., Busch, T., Aregbesola, B., Donkor, P., Arthur, F.K., Bello, S.A., Martinez, A. et al. (2016) Association studies and direct DNA sequencing implicate genetic susceptibility loci in the etiology of nonsyndromic orofacial clefts in sub-Saharan African populations. J. Dent. Res., 95, 1245-1256.
-
(2016)
J. Dent. Res.
, vol.95
, pp. 1245-1256
-
-
Gowans, L.J.1
Adeyemo, W.L.2
Eshete, M.3
Mossey, P.A.4
Busch, T.5
Aregbesola, B.6
Donkor, P.7
Arthur, F.K.8
Bello, S.A.9
Martinez, A.10
-
50
-
-
62049084378
-
Research electronic data capture (REDCap)-A metadata-driven methodology and workflow process for providing translational research informatics support
-
Harris, P.A., Taylor, R., Thielke, R., Payne, J., Gonzalez, N. and Conde, J.G. (2009) Research electronic data capture (REDCap)-a metadata-driven methodology and workflow process for providing translational research informatics support. J. Biomed. Inform., 42, 377-381.
-
(2009)
J. Biomed. Inform.
, vol.42
, pp. 377-381
-
-
Harris, P.A.1
Taylor, R.2
Thielke, R.3
Payne, J.4
Gonzalez, N.5
Conde, J.G.6
-
51
-
-
85052470057
-
Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts
-
Oseni, G.O., Jain, D., Mossey, P.A., Busch, T.D., Gowans, L.J.J., Eshete, M.A., Adeyemo, W.L., Laurie, C.A., Laurie, C.C., Owais, A. et al. (2018) Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts. Mol. Genet. Genomic. Med., doi:10.1002/mgg3.459.
-
(2018)
Mol. Genet. Genomic. Med.
-
-
Oseni, G.O.1
Jain, D.2
Mossey, P.A.3
Busch, T.D.4
Gowans, L.J.J.5
Eshete, M.A.6
Adeyemo, W.L.7
Laurie, C.A.8
Laurie, C.C.9
Owais, A.10
-
52
-
-
77956242566
-
Quality control and quality assurance in genotypic data for genome-wide association studies
-
Laurie, C.C., Doheny, K.F., Mirel, D.B., Pugh, E.W., Bierut, L.J., Bhangale, T., Boehm, F., Caporaso, N.E., Cornelis, M.C., Edenberg, H.J. et al. (2010) Quality control and quality assurance in genotypic data for genome-wide association studies. Genet. Epidemiol., 34, 591-602.
-
(2010)
Genet. Epidemiol.
, vol.34
, pp. 591-602
-
-
Laurie, C.C.1
Doheny, K.F.2
Mirel, D.B.3
Pugh, E.W.4
Bierut, L.J.5
Bhangale, T.6
Boehm, F.7
Caporaso, N.E.8
Cornelis, M.C.9
Edenberg, H.J.10
-
53
-
-
84870844464
-
GWASTools: An R/Bioconductor package for quality control and analysis of genome-wide association studies
-
Gogarten, S.M., Bhangale, T., Conomos, M.P., Laurie, C.A., CP, M.H., Painter, I., Zheng, X., Crosslin, D.R., Levine, D., Lumley, T. et al. (2012) GWASTools: an R/Bioconductor package for quality control and analysis of genome-wide association studies. Bioinformatics, 28, 3329-3331.
-
(2012)
Bioinformatics
, vol.28
, pp. 3329-3331
-
-
Gogarten, S.M.1
Bhangale, T.2
Conomos, M.P.3
Laurie, C.A.4
Painter, I.5
Zheng, X.6
Crosslin, D.R.7
Levine, D.8
Lumley, T.9
-
54
-
-
84870820953
-
A high-performance computing toolset for relatedness and principal component analysis of SNP data
-
Zheng, X., Levine, D., Shen, J., Gogarten, S.M., Laurie, C. and Weir, B.S. (2012) A high-performance computing toolset for relatedness and principal component analysis of SNP data. Bioinformatics, 28, 3326-3328.
-
(2012)
Bioinformatics
, vol.28
, pp. 3326-3328
-
-
Zheng, X.1
Levine, D.2
Shen, J.3
Gogarten, S.M.4
Laurie, C.5
Weir, B.S.6
-
56
-
-
58149345887
-
Practical aspects of imputation-driven meta-analysis of genome-wide association studies
-
de Bakker, P.I., Ferreira, M.A., Jia, X., Neale, B.M., Raychaudhuri, S. and Voight, B.F. (2008) Practical aspects of imputation-driven meta-analysis of genome-wide association studies. Hum. Mol. Genet., 17, R122-R128.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. R122-R128
-
-
De-Bakker, P.I.1
Ferreira, M.A.2
Jia, X.3
Neale, B.M.4
Raychaudhuri, S.5
Voight, B.F.6
-
57
-
-
84864417548
-
Fast and accurate genotype imputation in genome-wide association studies through prephasing
-
Howie, B., Fuchsberger, C., Stephens, M., Marchini, J. and Abecasis, G.R. (2012) Fast and accurate genotype imputation in genome-wide association studies through prephasing. Nat. Genet., 44, 955-959.
-
(2012)
Nat. Genet.
, vol.44
, pp. 955-959
-
-
Howie, B.1
Fuchsberger, C.2
Stephens, M.3
Marchini, J.4
Abecasis, G.R.5
-
58
-
-
84964829120
-
Control for population structure and relatedness for binary traits in genetic association studies via logisticmixed models
-
Chen, H., Wang, C., Conomos, M.P., Stilp, A.M., Li, Z., Sofer, T., Szpiro, A.A., Chen, W., Brehm, J.M., Celedon, J.C. et al. (2016) Control for population structure and relatedness for binary traits in genetic association studies via logisticmixed models. Am. J. Hum. Genet., 98, 653-666.
-
(2016)
Am. J. Hum. Genet.
, vol.98
, pp. 653-666
-
-
Chen, H.1
Wang, C.2
Conomos, M.P.3
Stilp, A.M.4
Li, Z.5
Sofer, T.6
Szpiro, A.A.7
Chen, W.8
Brehm, J.M.9
Celedon, J.C.10
-
59
-
-
77955894071
-
METAL: Fast and efficient meta-analysis of genome-wide association scans
-
Willer, C.J., Li, Y. and Abecasis, G.R. (2010) METAL: fast and efficient meta-analysis of genome-wide association scans. Bioinformatics, 26, 2190-2191.
-
(2010)
Bioinformatics
, vol.26
, pp. 2190-2191
-
-
Willer, C.J.1
Li, Y.2
Abecasis, G.R.3
-
60
-
-
18444369013
-
The structure of haplotype blocks in the human genome
-
Gabriel, S.B., Schaffner, S.F., Nguyen, H., Moore, J.M., Roy, J., Blumenstiel, B., Higgins, J., De Felice, M., Lochner, A., Faggart, M. et al. (2002) The structure of haplotype blocks in the human genome. Science., 296, 2225-2229.
-
(2002)
Science.
, vol.296
, pp. 2225-2229
-
-
Gabriel, S.B.1
Schaffner, S.F.2
Nguyen, H.3
Moore, J.M.4
Roy, J.5
Blumenstiel, B.6
Higgins, J.7
De-Felice, M.8
Lochner, A.9
Faggart, M.10
-
61
-
-
34548292504
-
PLINK: A tool set for whole-genome association and population-based linkage analyses
-
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M.A., Bender, D., Maller, J., Sklar, P., de Bakker, P.I., Daly, M.J. et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet., 81, 559-575.
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
Thomas, L.4
Ferreira, M.A.5
Bender, D.6
Maller, J.7
Sklar, P.8
De-Bakker, P.I.9
Daly, M.J.10
-
62
-
-
78650856517
-
GCTA: A tool for genome-wide complex trait analysis
-
Yang, J., Lee, S.H., Goddard, M.E. and Visscher, P.M. (2011) GCTA: a tool for genome-wide complex trait analysis. Am. J. Hum. Genet., 88, 76-82.
-
(2011)
Am. J. Hum. Genet.
, vol.88
, pp. 76-82
-
-
Yang, J.1
Lee, S.H.2
Goddard, M.E.3
Visscher, P.M.4
-
63
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei, I.A., Schmidt, S., Peshkin, L., Ramensky, V.E., Gerasimova, A., Bork, P., Kondrashov, A.S., Sunyaev, S.R. et al. (2010) A method and server for predicting damaging missense mutations. Nat. Methods., 7, 248-249.
-
(2010)
Nat. Methods.
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
Kondrashov, A.S.7
Sunyaev, S.R.8
-
64
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar, P., Henikoff, S. and Ng, P.C. (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc., 4, 1073-1081.
-
(2009)
Nat. Protoc.
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
65
-
-
78049484011
-
Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces
-
Venselaar, H., Te Beek, T.A., Kuipers, R.K., Hekkelman, M.L. and Vriend, G. (2010) Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces. BMC Bioinformatics, 11, 548.
-
(2010)
BMC Bioinformatics
, vol.11
, pp. 548
-
-
Venselaar, H.1
Te-Beek, T.A.2
Kuipers, R.K.3
Hekkelman, M.L.4
Vriend, G.5
-
66
-
-
84995653314
-
Sox2 and Lef-1 interact with Pitx2 to regulate incisor development and stem cell renewal
-
Sun, Z., Yu, W., Sanz Navarro, M., Sweat, M., Eliason, S., Sharp, T., Liu, H., Seidel, K., Zhang, L., Moreno, M. et al. (2016) Sox2 and Lef-1 interact with Pitx2 to regulate incisor development and stem cell renewal. Development, 143, 4115-4126.
-
(2016)
Development
, vol.143
, pp. 4115-4126
-
-
Sun, Z.1
Yu, W.2
Sanz-Navarro, M.3
Sweat, M.4
Eliason, S.5
Sharp, T.6
Liu, H.7
Seidel, K.8
Zhang, L.9
Moreno, M.10
-
67
-
-
84995641722
-
In situ hybridization to identify gut stem cells
-
Gregorieff, A. and Clevers, H. (2015) In situ hybridization to identify gut stem cells. Curr. Protoc. Stem Cell Biol., 34, 2F.1.1-2F.1.11.
-
(2015)
Curr. Protoc. Stem Cell Biol.
, vol.34
, pp. 1-11
-
-
Gregorieff, A.1
Clevers, H.2
|