-
1
-
-
70449629175
-
Cleft lip and palate
-
Mossey PA, Little J, Munger RG, Dixon MJ, Shaw WC. Cleft lip and palate. Lancet. 2009;374:1773–1785.
-
(2009)
Lancet
, vol.374
, pp. 1773-1785
-
-
Mossey, P.A.1
Little, J.2
Munger, R.G.3
Dixon, M.J.4
Shaw, W.C.5
-
2
-
-
0037675817
-
Socio-economic status and risk of conotruncal heart defects and orofacial clefts
-
Carmichael SL, Nelson V, Shaw GM, Wasserman CR, Croen LA. Socio-economic status and risk of conotruncal heart defects and orofacial clefts. Paediatr Perinat Epidemiol. 2003;17:264–271.
-
(2003)
Paediatr Perinat Epidemiol
, vol.17
, pp. 264-271
-
-
Carmichael, S.L.1
Nelson, V.2
Shaw, G.M.3
Wasserman, C.R.4
Croen, L.A.5
-
3
-
-
84872450566
-
The evolution of human genetic studies of cleft lip and cleft palate
-
Marazita ML. The evolution of human genetic studies of cleft lip and cleft palate. Annu Rev Genomics Hum Genet. 2012;13:263–283.
-
(2012)
Annu Rev Genomics Hum Genet
, vol.13
, pp. 263-283
-
-
Marazita, M.L.1
-
4
-
-
79951800135
-
Cleft lip and palate: understanding genetic and environmental influences
-
Dixon MJ, Marazita ML, Beaty TH, Murray JC. Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet. 2011;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
-
-
84855912818
-
Breakthroughs in the genetics of orofacial clefting
-
Mangold E, Ludwig KU, Nöthen MM. Breakthroughs in the genetics of orofacial clefting. Trends Mol Med. 2011;17:725–733.
-
(2011)
Trends Mol Med
, vol.17
, pp. 725-733
-
-
Mangold, E.1
Ludwig, K.U.2
Nöthen, M.M.3
-
6
-
-
55049105999
-
Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip
-
Rahimov F, Marazita ML, Visel A, et al. Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat Genet. 2008;40:1341–1347.
-
(2008)
Nat Genet
, vol.40
, pp. 1341-1347
-
-
Rahimov, F.1
Marazita, M.L.2
Visel, A.3
-
7
-
-
0036303545
-
Facial clefting and psychiatric diseases: a follow-up of the Danish 1936-1987 Facial Cleft cohort
-
Christensen K, Mortensen PB. Facial clefting and psychiatric diseases: a follow-up of the Danish 1936-1987 Facial Cleft cohort. Cleft Palate Craniofac J. 2002;39:392–396.
-
(2002)
Cleft Palate Craniofac J
, vol.39
, pp. 392-396
-
-
Christensen, K.1
Mortensen, P.B.2
-
8
-
-
2942705950
-
Long term follow up study of survival associated with cleft lip and palate at birth
-
Christensen K, Juel K, Herskind AM, Murray JC. Long term follow up study of survival associated with cleft lip and palate at birth. BMJ. 2004;328:1405.
-
(2004)
BMJ
, vol.328
, pp. 1405
-
-
Christensen, K.1
Juel, K.2
Herskind, A.M.3
Murray, J.C.4
-
9
-
-
19544379183
-
Cancer risk in persons with oral cleft--a population-based study of 8,093 cases
-
Bille C, Winther JF, Bautz A, Murray JC, Olsen J, Christensen K. Cancer risk in persons with oral cleft--a population-based study of 8,093 cases. Am J Epidemiol. 2005;161:1047–1055.
-
(2005)
Am J Epidemiol
, vol.161
, pp. 1047-1055
-
-
Bille, C.1
Winther, J.F.2
Bautz, A.3
Murray, J.C.4
Olsen, J.5
Christensen, K.6
-
11
-
-
63449105241
-
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
-
Birnbaum S, Ludwig KU, Reutter H, et al. Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet. 2009;41:473–477.
-
(2009)
Nat Genet
, vol.41
, pp. 473-477
-
-
Birnbaum, S.1
Ludwig, K.U.2
Reutter, H.3
-
12
-
-
73949148687
-
A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24
-
Grant SF, Wang K, Zhang H, et al. A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24. J Pediatr. 2009;155:909–913.
-
(2009)
J Pediatr
, vol.155
, pp. 909-913
-
-
Grant, S.F.1
Wang, K.2
Zhang, H.3
-
13
-
-
77952886672
-
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
-
Beaty TH, Murray JC, Marazita ML, et al. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet. 2010;42:525–529.
-
(2010)
Nat Genet
, vol.42
, pp. 525-529
-
-
Beaty, T.H.1
Murray, J.C.2
Marazita, M.L.3
-
14
-
-
73349086542
-
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate
-
Mangold E, Ludwig KU, Birnbaum S, et al. Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet. 2010;42:24–26.
-
(2010)
Nat Genet
, vol.42
, pp. 24-26
-
-
Mangold, E.1
Ludwig, K.U.2
Birnbaum, S.3
-
15
-
-
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, et al. Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate. Nat Commun. 2015;6:6414.
-
(2015)
Nat Commun
, vol.6
, pp. 6414
-
-
Sun, Y.1
Huang, Y.2
Yin, A.3
-
16
-
-
84926327004
-
Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate
-
Wolf ZT, Brand HA, Shaffer JR, et al. Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate. PLoS Genet. 2015;11:e1005059.
-
(2015)
PLoS Genet
, vol.11
-
-
Wolf, Z.T.1
Brand, H.A.2
Shaffer, J.R.3
-
17
-
-
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 EJ, Carlson JC, Shaffer JR, et al. 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. 2016;25:2862–2872.
-
(2016)
Hum Mol Genet
, vol.25
, pp. 2862-2872
-
-
Leslie, E.J.1
Carlson, J.C.2
Shaffer, J.R.3
-
18
-
-
84865685465
-
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci
-
Ludwig KU, Mangold E, Herms S, et al. Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. Nat Genet. 2012;44:968–971.
-
(2012)
Nat Genet
, vol.44
, pp. 968-971
-
-
Ludwig, K.U.1
Mangold, E.2
Herms, S.3
-
19
-
-
0029819449
-
Dlg protein is required for junction structure, cell polarity, and proliferation control in Drosophila epithelia
-
Woods DF, Hough C, Peel D, Callaini G, Bryant PJ. Dlg protein is required for junction structure, cell polarity, and proliferation control in Drosophila epithelia. J Cell Biol. 1996;134:1469–1482.
-
(1996)
J Cell Biol
, vol.134
, pp. 1469-1482
-
-
Woods, D.F.1
Hough, C.2
Peel, D.3
Callaini, G.4
Bryant, P.J.5
-
20
-
-
52049122800
-
Role of Lgl/Dlg/Scribble in the regulation of epithelial junction, polarity and growth
-
Yamanaka T, Ohno S. Role of Lgl/Dlg/Scribble in the regulation of epithelial junction, polarity and growth. Front Biosci. 2008;13:6693–6707.
-
(2008)
Front Biosci
, vol.13
, pp. 6693-6707
-
-
Yamanaka, T.1
Ohno, S.2
-
21
-
-
84951734214
-
Searching for new genes and loci involved in cleft lip and palate in the Polish population—genome-wide association study
-
Mostowska A, Hozyasz KK, Wójcicki P, et al. Searching for new genes and loci involved in cleft lip and palate in the Polish population—genome-wide association study. J Med Sci. 2014;83:265–268.
-
(2014)
J Med Sci
, vol.83
, pp. 265-268
-
-
Mostowska, A.1
Hozyasz, K.K.2
Wójcicki, P.3
-
22
-
-
79959524146
-
A haplotype map of the human genome
-
International HapMap Consortium. A haplotype map of the human genome. Nature. 2005;437:1299–1320.
-
(2005)
Nature
, vol.437
, pp. 1299-1320
-
-
-
23
-
-
34548292504
-
PLINK: a tool set for whole-genome association and population-based linkage analyses
-
Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81:559–575.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
-
24
-
-
35348817330
-
Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering
-
Browning SR, Browning BL. Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. Am J Hum Genet. 2007;81:1084–1097.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 1084-1097
-
-
Browning, S.R.1
Browning, B.L.2
-
25
-
-
77956586071
-
LocusZoom: regional visualization of genome-wide association scan results
-
Pruim RJ, Welch RP, Sanna S, et al. LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics. 2010;26:2336–2337.
-
(2010)
Bioinformatics
, vol.26
, pp. 2336-2337
-
-
Pruim, R.J.1
Welch, R.P.2
Sanna, S.3
-
26
-
-
0035134869
-
Craniofacial dysmorphogenesis including cleft palate in mice with an insertional mutation in the discs large gene
-
Caruana G, Bernstein A. Craniofacial dysmorphogenesis including cleft palate in mice with an insertional mutation in the discs large gene. Mol Cell Biol. 2001;21:1475–1483.
-
(2001)
Mol Cell Biol
, vol.21
, pp. 1475-1483
-
-
Caruana, G.1
Bernstein, A.2
-
27
-
-
34248995046
-
Abnormal development of urogenital organs in Dlgh1-deficient mice
-
Iizuka-Kogo A, Ishidao T, Akiyama T, Senda T. Abnormal development of urogenital organs in Dlgh1-deficient mice. Development. 2007;134:1799–1807.
-
(2007)
Development
, vol.134
, pp. 1799-1807
-
-
Iizuka-Kogo, A.1
Ishidao, T.2
Akiyama, T.3
Senda, T.4
-
28
-
-
84929492832
-
Requirement of DLG1 for cardiovascular development and tissue elongation during cochlear, enteric, and skeletal development: possible role in convergent extension
-
Iizuka-Kogo A, Senda T, Akiyama T, et al. Requirement of DLG1 for cardiovascular development and tissue elongation during cochlear, enteric, and skeletal development: possible role in convergent extension. PLoS One. 2015;10:e0123965.
-
(2015)
PLoS One
, vol.10
-
-
Iizuka-Kogo, A.1
Senda, T.2
Akiyama, T.3
-
29
-
-
84872786747
-
Requirement for Dlgh-1 in planar cell polarity and skeletogenesis during vertebrate development
-
Rivera C, Simonson SJ, Yamben IF, et al. Requirement for Dlgh-1 in planar cell polarity and skeletogenesis during vertebrate development. PLoS One. 2013;8:e54410.
-
(2013)
PLoS One
, vol.8
-
-
Rivera, C.1
Simonson, S.J.2
Yamben, I.F.3
-
30
-
-
34249664330
-
Wnt5a functions in planar cell polarity regulation in mice
-
Qian D, Jones C, Rzadzinska A, et al. Wnt5a functions in planar cell polarity regulation in mice. Dev Biol. 2007;306:121–133.
-
(2007)
Dev Biol
, vol.306
, pp. 121-133
-
-
Qian, D.1
Jones, C.2
Rzadzinska, A.3
-
31
-
-
59749093869
-
Wnt5a regulates directional cell migration and cell proliferation via Ror2-mediated noncanonical pathway in mammalian palate development
-
He F, Xiong W, Yu X, et al. Wnt5a regulates directional cell migration and cell proliferation via Ror2-mediated noncanonical pathway in mammalian palate development. Development. 2008;135:3871–3879.
-
(2008)
Development
, vol.135
, pp. 3871-3879
-
-
He, F.1
Xiong, W.2
Yu, X.3
-
32
-
-
20544435269
-
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome
-
Willatt L, Cox J, Barber J, et al. 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet. 2005;77:154–160.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 154-160
-
-
Willatt, L.1
Cox, J.2
Barber, J.3
-
33
-
-
84961218272
-
Unique Rare Chromosome Disorder Support Group. Novel features of 3q29 deletion syndrome: Results from the 3q29 registry
-
Glassford MR, Rosenfeld JA, Freedman AA, Zwick ME, Mulle JG. Unique Rare Chromosome Disorder Support Group. Novel features of 3q29 deletion syndrome: Results from the 3q29 registry. Am J Med Genet A. 2016;170A:999–1006.
-
(2016)
Am J Med Genet A
, vol.170A
, pp. 999-1006
-
-
Glassford, M.R.1
Rosenfeld, J.A.2
Freedman, A.A.3
Zwick, M.E.4
Mulle, J.G.5
-
34
-
-
77957895378
-
Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review
-
Quintero-Rivera F, Sharifi-Hannauer P, Martinez-Agosto JA. Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review. Am J Med Genet A. 2010;152A:2459–2467.
-
(2010)
Am J Med Genet A
, vol.152A
, pp. 2459-2467
-
-
Quintero-Rivera, F.1
Sharifi-Hannauer, P.2
Martinez-Agosto, J.A.3
-
35
-
-
84931346687
-
A clinical case report and literature review of the 3q29 microdeletion syndrome
-
Cox DM, Butler MG. A clinical case report and literature review of the 3q29 microdeletion syndrome. Clin Dysmorphol. 2015;24:89–94.
-
(2015)
Clin Dysmorphol
, vol.24
, pp. 89-94
-
-
Cox, D.M.1
Butler, M.G.2
-
36
-
-
84979628379
-
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes
-
Pengelly RJ, Arias L, Martínez J, et al. Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes. Sci Rep. 2016;6:30457.
-
(2016)
Sci Rep
, vol.6
, pp. 30457
-
-
Pengelly, R.J.1
Arias, L.2
Martínez, J.3
-
37
-
-
50649124440
-
An association analysis of synapse-associated protein 97 (SAP97) gene in schizophrenia
-
Sato J, Shimazu D, Yamamoto N, Nishikawa T. An association analysis of synapse-associated protein 97 (SAP97) gene in schizophrenia. J Neural Transm (Vienna). 2008;115:1355–1365.
-
(2008)
J Neural Transm (Vienna)
, vol.115
, pp. 1355-1365
-
-
Sato, J.1
Shimazu, D.2
Yamamoto, N.3
Nishikawa, T.4
-
38
-
-
77955568656
-
Microdeletions of 3q29 confer high risk for schizophrenia
-
Mulle JG, Dodd AF, McGrath JA, et al. Microdeletions of 3q29 confer high risk for schizophrenia. Am J Hum Genet. 2010;87:229–236.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 229-236
-
-
Mulle, J.G.1
Dodd, A.F.2
McGrath, J.A.3
-
39
-
-
84903317884
-
Exome sequencing identifies DLG1 as a novel gene for potential susceptibility to Crohn's disease in a Chinese family study
-
Xu S, Zhou F, Tao J, et al. Exome sequencing identifies DLG1 as a novel gene for potential susceptibility to Crohn's disease in a Chinese family study. PLoS One. 2014;9:e99807.
-
(2014)
PLoS One
, vol.9
-
-
Xu, S.1
Zhou, F.2
Tao, J.3
-
41
-
-
84866424985
-
The PDZ protein discs-large (DLG): the 'Jekyll and Hyde' of the epithelial polarity proteins
-
Roberts S, Delury C, Marsh E. The PDZ protein discs-large (DLG): the 'Jekyll and Hyde' of the epithelial polarity proteins. FEBS J. 2012;279:3549–3558.
-
(2012)
FEBS J
, vol.279
, pp. 3549-3558
-
-
Roberts, S.1
Delury, C.2
Marsh, E.3
-
43
-
-
24644472515
-
Antisense transcription in the mammalian transcriptome
-
Katayama S, Tomaru Y, Kasukawa T, et al. Antisense transcription in the mammalian transcriptome. Science. 2005;309:1564–1566.
-
(2005)
Science
, vol.309
, pp. 1564-1566
-
-
Katayama, S.1
Tomaru, Y.2
Kasukawa, T.3
-
44
-
-
44349144551
-
Comparative expression analysis uncovers novel features of endogenous antisense transcription
-
Okada Y, Tashiro C, Numata K, et al. Comparative expression analysis uncovers novel features of endogenous antisense transcription. Hum Mol Genet. 2008;17:1631–1640.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 1631-1640
-
-
Okada, Y.1
Tashiro, C.2
Numata, K.3
-
45
-
-
69249217649
-
Regulatory roles of natural antisense transcripts
-
Faghihi MA, Wahlestedt C. Regulatory roles of natural antisense transcripts. Nat Rev Mol Cell Biol. 2009;10:637–643.
-
(2009)
Nat Rev Mol Cell Biol
, vol.10
, pp. 637-643
-
-
Faghihi, M.A.1
Wahlestedt, C.2
-
46
-
-
84887995915
-
Gene regulation by antisense transcription
-
Pelechano V, Steinmetz LM. Gene regulation by antisense transcription. Nat Rev Genet. 2013;14:880–893.
-
(2013)
Nat Rev Genet
, vol.14
, pp. 880-893
-
-
Pelechano, V.1
Steinmetz, L.M.2
-
47
-
-
84875200257
-
Long noncoding RNAs: cellular address codes in development and disease
-
Batista PJ, Chang HY. Long noncoding RNAs: cellular address codes in development and disease. Cell. 2013;152:1298–1307.
-
(2013)
Cell
, vol.152
, pp. 1298-1307
-
-
Batista, P.J.1
Chang, H.Y.2
-
48
-
-
84943643207
-
Long noncoding RNAs in development and cancer: potential biomarkers and therapeutic targets
-
Fatima R, Akhade VS, Pal D, Rao SM. Long noncoding RNAs in development and cancer: potential biomarkers and therapeutic targets. Mol Cell Ther. 2015;3:5.
-
(2015)
Mol Cell Ther
, vol.3
, pp. 5
-
-
Fatima, R.1
Akhade, V.S.2
Pal, D.3
Rao, S.M.4
-
49
-
-
64549083268
-
INK4/ARF transcript expression is associated with chromosome 9p21 variants linked to atherosclerosis
-
Liu Y, Sanoff HK, Cho H, et al. INK4/ARF transcript expression is associated with chromosome 9p21 variants linked to atherosclerosis. PLoS One. 2009;4:e5027.
-
(2009)
PLoS One
, vol.4
-
-
Liu, Y.1
Sanoff, H.K.2
Cho, H.3
-
50
-
-
79551623370
-
ANRIL, a long, noncoding RNA, is an unexpected major hotspot in GWAS
-
Pasmant E, Sabbagh A, Vidaud M, Bièche I. ANRIL, a long, noncoding RNA, is an unexpected major hotspot in GWAS. FASEB J. 2011;25:444–448.
-
(2011)
FASEB J
, vol.25
, pp. 444-448
-
-
Pasmant, E.1
Sabbagh, A.2
Vidaud, M.3
Bièche, I.4
-
51
-
-
84908318087
-
Genetic variation in the non-coding genome: Involvement of micro-RNAs and long non-coding RNAs in disease
-
Hrdlickova B, de Almeida RC, Borek Z, Withoff S. Genetic variation in the non-coding genome: Involvement of micro-RNAs and long non-coding RNAs in disease. Biochim Biophys Acta. 2014;1842:1910–1922.
-
(2014)
Biochim Biophys Acta
, vol.1842
, pp. 1910-1922
-
-
Hrdlickova, B.1
de Almeida, R.C.2
Borek, Z.3
Withoff, S.4
|