-
1
-
-
80855144819
-
Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis
-
van der Linde D., Konings E.E., Slager M.A., Witsenburg M., Helbing W.A., Takkenberg J.J., Roos-Hesselink J.W. Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis. J Am Coll Cardiol 2011, 58:2241-2247.
-
(2011)
J Am Coll Cardiol
, vol.58
, pp. 2241-2247
-
-
van der Linde, D.1
Konings, E.E.2
Slager, M.A.3
Witsenburg, M.4
Helbing, W.A.5
Takkenberg, J.J.6
Roos-Hesselink, J.W.7
-
2
-
-
56049102822
-
Prevalence of congenital heart defects in metropolitan Atlanta, 1998-2005
-
Reller M.D., Strickland M.J., Riehle-Colarusso T., Mahle W.T., Correa A. Prevalence of congenital heart defects in metropolitan Atlanta, 1998-2005. J Pediatr 2008, 153:807-813.
-
(2008)
J Pediatr
, vol.153
, pp. 807-813
-
-
Reller, M.D.1
Strickland, M.J.2
Riehle-Colarusso, T.3
Mahle, W.T.4
Correa, A.5
-
3
-
-
78651515983
-
The changing epidemiology of congenital heart disease
-
van der Bom T., Zomer A.C., Zwinderman A.H., Meijboom F.J., Bouma B.J., Mulder B.J. The changing epidemiology of congenital heart disease. Nat Rev Cardiol 2011, 8:50-60.
-
(2011)
Nat Rev Cardiol
, vol.8
, pp. 50-60
-
-
van der Bom, T.1
Zomer, A.C.2
Zwinderman, A.H.3
Meijboom, F.J.4
Bouma, B.J.5
Mulder, B.J.6
-
4
-
-
78649980258
-
Myocardial lineage development
-
Evans S.M., Yelon D., Conlon F.L., Kirby M.L. Myocardial lineage development. Circ Res 2010, 107:1428-1444.
-
(2010)
Circ Res
, vol.107
, pp. 1428-1444
-
-
Evans, S.M.1
Yelon, D.2
Conlon, F.L.3
Kirby, M.L.4
-
5
-
-
0042911521
-
Functional genetic analysis of mouse chromosome 11
-
Kile B.T., Hentges K.E., Clark A.T., Nakamura H., Salinger A.P., Liu B., Box N., Stockton D.W., Johnson R.L., Behringer R.R., et al. Functional genetic analysis of mouse chromosome 11. Nature 2003, 425:81-86.
-
(2003)
Nature
, vol.425
, pp. 81-86
-
-
Kile, B.T.1
Hentges, K.E.2
Clark, A.T.3
Nakamura, H.4
Salinger, A.P.5
Liu, B.6
Box, N.7
Stockton, D.W.8
Johnson, R.L.9
Behringer, R.R.10
-
6
-
-
0032479573
-
Congenital heart disease caused by mutations in the transcription factor NKX2-5
-
Schott J.J., Benson D.W., Basson C.T., Pease W., Silberbach G.M., Moak J.P., Maron B.J., Seidman C.E., Seidman J.G. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 1998, 281:108-111.
-
(1998)
Science
, vol.281
, pp. 108-111
-
-
Schott, J.J.1
Benson, D.W.2
Basson, C.T.3
Pease, W.4
Silberbach, G.M.5
Moak, J.P.6
Maron, B.J.7
Seidman, C.E.8
Seidman, J.G.9
-
7
-
-
80054695658
-
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients
-
Guo T., McDonald-McGinn D., Blonska A., Shanske A., Bassett A.S., Chow E., Bowser M., Sheridan M., Beemer F., Devriendt K., et al. Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat 2011, 32:1278-1289.
-
(2011)
Hum Mutat
, vol.32
, pp. 1278-1289
-
-
Guo, T.1
McDonald-McGinn, D.2
Blonska, A.3
Shanske, A.4
Bassett, A.S.5
Chow, E.6
Bowser, M.7
Sheridan, M.8
Beemer, F.9
Devriendt, K.10
-
8
-
-
1842413728
-
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
-
Li Q.Y., Newbury-Ecob R.A., Terrett J.A., Wilson D.I., Curtis A.R., Yi C.H., Gebuhr T., Bullen P.J., Robson S.C., Strachan T., et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet 1997, 15:21-29.
-
(1997)
Nat Genet
, vol.15
, pp. 21-29
-
-
Li, Q.Y.1
Newbury-Ecob, R.A.2
Terrett, J.A.3
Wilson, D.I.4
Curtis, A.R.5
Yi, C.H.6
Gebuhr, T.7
Bullen, P.J.8
Robson, S.C.9
Strachan, T.10
-
9
-
-
84865250455
-
Left-right patterning: conserved and divergent mechanisms
-
Nakamura T., Hamada H. Left-right patterning: conserved and divergent mechanisms. Development 2012, 139:3257-3262.
-
(2012)
Development
, vol.139
, pp. 3257-3262
-
-
Nakamura, T.1
Hamada, H.2
-
10
-
-
84863403706
-
Proteomic analysis of mammalian primary cilia
-
Ishikawa H., Thompson J., Yates J.R., Marshall W.F. Proteomic analysis of mammalian primary cilia. Curr Biol 2012, 22:414-419.
-
(2012)
Curr Biol
, vol.22
, pp. 414-419
-
-
Ishikawa, H.1
Thompson, J.2
Yates, J.R.3
Marshall, W.F.4
-
11
-
-
33748335482
-
The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia
-
Gherman A., Davis E.E., Katsanis N. The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia. Nat Genet 2006, 38:961-962.
-
(2006)
Nat Genet
, vol.38
, pp. 961-962
-
-
Gherman, A.1
Davis, E.E.2
Katsanis, N.3
-
12
-
-
84860720930
-
High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy
-
Nakhleh N., Francis R., Giese R.A., Tian X., Li Y., Zariwala M.A., Yagi H., Khalifa O., Kureshi S., Chatterjee B., et al. High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. Circulation 2012, 125:2232-2242.
-
(2012)
Circulation
, vol.125
, pp. 2232-2242
-
-
Nakhleh, N.1
Francis, R.2
Giese, R.A.3
Tian, X.4
Li, Y.5
Zariwala, M.A.6
Yagi, H.7
Khalifa, O.8
Kureshi, S.9
Chatterjee, B.10
-
13
-
-
0025790051
-
Spectrum of heart malformations in mice with situs solitus, situs inversus, and associated visceral heterotaxy
-
Icardo J.M., Sanchez de Vega M.J. Spectrum of heart malformations in mice with situs solitus, situs inversus, and associated visceral heterotaxy. Circulation 1991, 84:2547-2558.
-
(1991)
Circulation
, vol.84
, pp. 2547-2558
-
-
Icardo, J.M.1
Sanchez de Vega, M.J.2
-
14
-
-
0035263599
-
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice
-
Lindsay E.A., Vitelli F., Su H., Morishima M., Huynh T., Pramparo T., Jurecic V., Ogunrinu G., Sutherland H.F., Scambler P.J., et al. Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature 2001, 410:97-101.
-
(2001)
Nature
, vol.410
, pp. 97-101
-
-
Lindsay, E.A.1
Vitelli, F.2
Su, H.3
Morishima, M.4
Huynh, T.5
Pramparo, T.6
Jurecic, V.7
Ogunrinu, G.8
Sutherland, H.F.9
Scambler, P.J.10
-
15
-
-
0035870854
-
Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region
-
Lindsay E.A., Baldini A. Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region. Hum Mol Genet 2001, 10:997-1002.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 997-1002
-
-
Lindsay, E.A.1
Baldini, A.2
-
16
-
-
84874230096
-
Genetics of congenital heart disease: the glass half empty
-
Fahed A.C., Gelb B.D., Seidman J.G., Seidman C.E. Genetics of congenital heart disease: the glass half empty. Circ Res 2013, 112:707-720.
-
(2013)
Circ Res
, vol.112
, pp. 707-720
-
-
Fahed, A.C.1
Gelb, B.D.2
Seidman, J.G.3
Seidman, C.E.4
-
17
-
-
0033582940
-
GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease
-
Pehlivan T., Pober B.R., Brueckner M., Garrett S., Slaugh R., Van Rheeden R., Wilson D.B., Watson M.S., Hing A.V. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease. Am J Med Genet 1999, 83:201-206.
-
(1999)
Am J Med Genet
, vol.83
, pp. 201-206
-
-
Pehlivan, T.1
Pober, B.R.2
Brueckner, M.3
Garrett, S.4
Slaugh, R.5
Van Rheeden, R.6
Wilson, D.B.7
Watson, M.S.8
Hing, A.V.9
-
18
-
-
84866070546
-
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease
-
Soemedi R., Wilson I.J., Bentham J., Darlay R., Topf A., Zelenika D., Cosgrove C., Setchfield K., Thornborough C., Granados-Riveron J., et al. Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. Am J Hum Genet 2012, 91:489-501.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 489-501
-
-
Soemedi, R.1
Wilson, I.J.2
Bentham, J.3
Darlay, R.4
Topf, A.5
Zelenika, D.6
Cosgrove, C.7
Setchfield, K.8
Thornborough, C.9
Granados-Riveron, J.10
-
19
-
-
84858257118
-
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
-
Soemedi R., Topf A., Wilson I.J., Darlay R., Rahman T., Glen E., Hall D., Huang N., Bentham J., Bhattacharya S., et al. Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. Hum Mol Genet 2012, 21:1513-1520.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 1513-1520
-
-
Soemedi, R.1
Topf, A.2
Wilson, I.J.3
Darlay, R.4
Rahman, T.5
Glen, E.6
Hall, D.7
Huang, N.8
Bentham, J.9
Bhattacharya, S.10
-
20
-
-
82355170520
-
Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies
-
Goldmuntz E., Paluru P., Glessner J., Hakonarson H., Biegel J.A., White P.S., Gai X., Shaikh T.H. Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies. Congenit Heart Dis 2011, 6:592-602.
-
(2011)
Congenit Heart Dis
, vol.6
, pp. 592-602
-
-
Goldmuntz, E.1
Paluru, P.2
Glessner, J.3
Hakonarson, H.4
Biegel, J.A.5
White, P.S.6
Gai, X.7
Shaikh, T.H.8
-
21
-
-
79952584346
-
Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning
-
Fakhro K.A., Choi M., Ware S.M., Belmont J.W., Towbin J.A., Lifton R.P., Khokha M.K., Brueckner M. Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proc Natl Acad Sci U S A 2011, 108:2915-2920.
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 2915-2920
-
-
Fakhro, K.A.1
Choi, M.2
Ware, S.M.3
Belmont, J.W.4
Towbin, J.A.5
Lifton, R.P.6
Khokha, M.K.7
Brueckner, M.8
-
22
-
-
84866915849
-
Rare copy number variants contribute to congenital left-sided heart disease
-
Hitz M.P., Lemieux-Perreault L.P., Marshall C., Feroz-Zada Y., Davies R., Yang S.W., Lionel A.C., D'Amours G., Lemyre E., Cullum R., et al. Rare copy number variants contribute to congenital left-sided heart disease. PLoS Genet 2012, 8:e1002903.
-
(2012)
PLoS Genet
, vol.8
-
-
Hitz, M.P.1
Lemieux-Perreault, L.P.2
Marshall, C.3
Feroz-Zada, Y.4
Davies, R.5
Yang, S.W.6
Lionel, A.C.7
D'Amours, G.8
Lemyre, E.9
Cullum, R.10
-
23
-
-
68149181705
-
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot
-
Greenway S.C., Pereira A.C., Lin J.C., DePalma S.R., Israel S.J., Mesquita S.M., Ergul E., Conta J.H., Korn J.M., McCarroll S.A., et al. De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genet 2009, 41:931-935.
-
(2009)
Nat Genet
, vol.41
, pp. 931-935
-
-
Greenway, S.C.1
Pereira, A.C.2
Lin, J.C.3
DePalma, S.R.4
Israel, S.J.5
Mesquita, S.M.6
Ergul, E.7
Conta, J.H.8
Korn, J.M.9
McCarroll, S.A.10
-
24
-
-
84861223064
-
Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects
-
Priest J.R., Girirajan S., Vu T.H., Olson A., Eichler E.E., Portman M.A. Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects. Am J Med Genet A 2012, 158A:1279-1284.
-
(2012)
Am J Med Genet A
, vol.158 A
, pp. 1279-1284
-
-
Priest, J.R.1
Girirajan, S.2
Vu, T.H.3
Olson, A.4
Eichler, E.E.5
Portman, M.A.6
-
25
-
-
79958074870
-
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism
-
Sanders S.J., Ercan-Sencicek A.G., Hus V., Luo R., Murtha M.T., Moreno-De-Luca D., Chu S.H., Moreau M.P., Gupta A.R., Thomson S.A., et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 2011, 70:863-885.
-
(2011)
Neuron
, vol.70
, pp. 863-885
-
-
Sanders, S.J.1
Ercan-Sencicek, A.G.2
Hus, V.3
Luo, R.4
Murtha, M.T.5
Moreno-De-Luca, D.6
Chu, S.H.7
Moreau, M.P.8
Gupta, A.R.9
Thomson, S.A.10
-
26
-
-
78049442656
-
NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD)
-
Reamon-Buettner S.M., Borlak J. NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD). Hum Mutat 2010, 31:1185-1194.
-
(2010)
Hum Mutat
, vol.31
, pp. 1185-1194
-
-
Reamon-Buettner, S.M.1
Borlak, J.2
-
27
-
-
77951566722
-
A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects
-
Posch M.G., Gramlich M., Sunde M., Schmitt K.R., Lee S.H., Richter S., Kersten A., Perrot A., Panek A.N., Al Khatib I.H., et al. A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects. J Med Genet 2010, 47:230-235.
-
(2010)
J Med Genet
, vol.47
, pp. 230-235
-
-
Posch, M.G.1
Gramlich, M.2
Sunde, M.3
Schmitt, K.R.4
Lee, S.H.5
Richter, S.6
Kersten, A.7
Perrot, A.8
Panek, A.N.9
Al Khatib, I.H.10
-
28
-
-
24644467759
-
Mutations in NOTCH1 cause aortic valve disease
-
Garg V., Muth A.N., Ransom J.F., Schluterman M.K., Barnes R., King I.N., Grossfeld P.D., Srivastava D. Mutations in NOTCH1 cause aortic valve disease. Nature 2005, 437:270-274.
-
(2005)
Nature
, vol.437
, pp. 270-274
-
-
Garg, V.1
Muth, A.N.2
Ransom, J.F.3
Schluterman, M.K.4
Barnes, R.5
King, I.N.6
Grossfeld, P.D.7
Srivastava, D.8
-
29
-
-
16944364984
-
X-linked situs abnormalities result from mutations in ZIC3
-
Gebbia M., Ferrero G.B., Pilia G., Bassi M.T., Aylsworth A., Penman-Splitt M., Bird L.M., Bamforth J.S., Burn J., Schlessinger D., et al. X-linked situs abnormalities result from mutations in ZIC3. Nat Genet 1997, 17:305-308.
-
(1997)
Nat Genet
, vol.17
, pp. 305-308
-
-
Gebbia, M.1
Ferrero, G.B.2
Pilia, G.3
Bassi, M.T.4
Aylsworth, A.5
Penman-Splitt, M.6
Bird, L.M.7
Bamforth, J.S.8
Burn, J.9
Schlessinger, D.10
-
30
-
-
68249099670
-
Recurrence of congenital heart defects in families
-
Oyen N., Poulsen G., Boyd H.A., Wohlfahrt J., Jensen P.K., Melbye M. Recurrence of congenital heart defects in families. Circulation 2009, 120:295-301.
-
(2009)
Circulation
, vol.120
, pp. 295-301
-
-
Oyen, N.1
Poulsen, G.2
Boyd, H.A.3
Wohlfahrt, J.4
Jensen, P.K.5
Melbye, M.6
-
31
-
-
84874248574
-
The Congenital Heart Disease Genetic Network Study: rationale, design, and early results
-
The Congenital Heart Disease Genetic Network Study: rationale, design, and early results. Circ Res 2013, 112:698-706.
-
(2013)
Circ Res
, vol.112
, pp. 698-706
-
-
-
32
-
-
84879001958
-
De novo mutations in histone-modifying genes in congenital heart disease
-
Zaidi S., Choi M., Wakimoto H., Ma L., Jiang J., Overton J.D., Romano-Adesman A., Bjornson R.D., Breitbart R.E., Brown K.K., et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature 2013, 448:220-223. 10.1038/nature12141.
-
(2013)
Nature
, vol.448
, pp. 220-223
-
-
Zaidi, S.1
Choi, M.2
Wakimoto, H.3
Ma, L.4
Jiang, J.5
Overton, J.D.6
Romano-Adesman, A.7
Bjornson, R.D.8
Breitbart, R.E.9
Brown, K.K.10
-
33
-
-
79955808192
-
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways
-
Sang L., Miller J.J., Corbit K.C., Giles R.H., Brauer M.J., Otto E.A., Baye L.M., Wen X., Scales S.J., Kwong M., et al. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 2011, 145:513-528.
-
(2011)
Cell
, vol.145
, pp. 513-528
-
-
Sang, L.1
Miller, J.J.2
Corbit, K.C.3
Giles, R.H.4
Brauer, M.J.5
Otto, E.A.6
Baye, L.M.7
Wen, X.8
Scales, S.J.9
Kwong, M.10
-
34
-
-
0027158027
-
Reversal of left-right asymmetry: a situs inversus mutation
-
(see comments)
-
Yokoyama T., Copeland N.G., Jenkins N.A., Montgomery C.A., Elder F.F., Overbeek P.A. Reversal of left-right asymmetry: a situs inversus mutation. Science 1993, 260:679-682. (see comments).
-
(1993)
Science
, vol.260
, pp. 679-682
-
-
Yokoyama, T.1
Copeland, N.G.2
Jenkins, N.A.3
Montgomery, C.A.4
Elder, F.F.5
Overbeek, P.A.6
-
35
-
-
43049150082
-
Transposition of the great vessels in a patient with a 2.9Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review
-
van Bon B.W., Koolen D.A., Pfundt R., van der Burgt I., de Leeuw N., de Vries B.B. Transposition of the great vessels in a patient with a 2.9Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review. Am J Med Genet A 2008, 146A:1225-1229.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 1225-1229
-
-
van Bon, B.W.1
Koolen, D.A.2
Pfundt, R.3
van der Burgt, I.4
de Leeuw, N.5
de Vries, B.B.6
-
36
-
-
41549092173
-
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia
-
Bergmann C., Fliegauf M., Bruchle N.O., Frank V., Olbrich H., Kirschner J., Schermer B., Schmedding I., Kispert A., Kranzlin B., et al. Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet 2008, 82:959-970.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 959-970
-
-
Bergmann, C.1
Fliegauf, M.2
Bruchle, N.O.3
Frank, V.4
Olbrich, H.5
Kirschner, J.6
Schermer, B.7
Schmedding, I.8
Kispert, A.9
Kranzlin, B.10
-
37
-
-
84862276120
-
NPHP4 variants are associated with pleiotropic heart malformations
-
French V.M., van de Laar I.M., Wessels M.W., Rohe C., Roos-Hesselink J.W., Wang G., Frohn-Mulder I.M., Severijnen L.A., de Graaf B.M., Schot R., et al. NPHP4 variants are associated with pleiotropic heart malformations. Circ Res 2012, 110:1564-1574.
-
(2012)
Circ Res
, vol.110
, pp. 1564-1574
-
-
French, V.M.1
van de Laar, I.M.2
Wessels, M.W.3
Rohe, C.4
Roos-Hesselink, J.W.5
Wang, G.6
Frohn-Mulder, I.M.7
Severijnen, L.A.8
de Graaf, B.M.9
Schot, R.10
-
38
-
-
84871869444
-
Loss of the ciliary kinase Nek8 causes left-right asymmetry defects
-
Manning D.K., Sergeev M., van Heesbeen R.G., Wong M.D., Oh J.H., Liu Y., Henkelman R.M., Drummond I., Shah J.V., Beier D.R. Loss of the ciliary kinase Nek8 causes left-right asymmetry defects. J Am Soc Nephrol 2013, 24:100-112.
-
(2013)
J Am Soc Nephrol
, vol.24
, pp. 100-112
-
-
Manning, D.K.1
Sergeev, M.2
van Heesbeen, R.G.3
Wong, M.D.4
Oh, J.H.5
Liu, Y.6
Henkelman, R.M.7
Drummond, I.8
Shah, J.V.9
Beier, D.R.10
-
39
-
-
84877905805
-
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression
-
Frank V., Habbig S., Bartram M.P., Eisenberger T., Veenstra-Knol H.E., Decker C., Boorsma R.A., Gobel H., Nurnberg G., Griessmann A., et al. Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression. Hum Mol Genet 2013, 22(11):2177-2185. 10.1093/hmg/ddt070.
-
(2013)
Hum Mol Genet
, vol.22
, Issue.11
, pp. 2177-2185
-
-
Frank, V.1
Habbig, S.2
Bartram, M.P.3
Eisenberger, T.4
Veenstra-Knol, H.E.5
Decker, C.6
Boorsma, R.A.7
Gobel, H.8
Nurnberg, G.9
Griessmann, A.10
-
40
-
-
84859647147
-
Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases
-
Hills C.B., Kochilas L., Schimmenti L.A., Moller J.H. Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. Pediatr Cardiol 2011, 32:977-982.
-
(2011)
Pediatr Cardiol
, vol.32
, pp. 977-982
-
-
Hills, C.B.1
Kochilas, L.2
Schimmenti, L.A.3
Moller, J.H.4
-
41
-
-
33845631572
-
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients
-
Tompson S.W., Ruiz-Perez V.L., Blair H.J., Barton S., Navarro V., Robson J.L., Wright M.J., Goodship J.A. Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. Hum Genet 2007, 120:663-670.
-
(2007)
Hum Genet
, vol.120
, pp. 663-670
-
-
Tompson, S.W.1
Ruiz-Perez, V.L.2
Blair, H.J.3
Barton, S.4
Navarro, V.5
Robson, J.L.6
Wright, M.J.7
Goodship, J.A.8
-
42
-
-
84868528041
-
Smoothened transduces Hedgehog signal by forming a complex with Evc/Evc2
-
Yang C., Chen W., Chen Y., Jiang J. Smoothened transduces Hedgehog signal by forming a complex with Evc/Evc2. Cell Res 2012, 22:1593-1604.
-
(2012)
Cell Res
, vol.22
, pp. 1593-1604
-
-
Yang, C.1
Chen, W.2
Chen, Y.3
Jiang, J.4
-
43
-
-
34247598971
-
Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia
-
Kennedy M.P., Omran H., Leigh M.W., Dell S., Morgan L., Molina P.L., Robinson B.V., Minnix S.L., Olbrich H., Severin T., et al. Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation 2007, 115:2814-2821.
-
(2007)
Circulation
, vol.115
, pp. 2814-2821
-
-
Kennedy, M.P.1
Omran, H.2
Leigh, M.W.3
Dell, S.4
Morgan, L.5
Molina, P.L.6
Robinson, B.V.7
Minnix, S.L.8
Olbrich, H.9
Severin, T.10
-
44
-
-
84861943636
-
Nek2 localises to the distal portion of the mother centriole/basal body and is required for timely cilium disassembly at the G2/M transition
-
Spalluto C., Wilson D.I., Hearn T. Nek2 localises to the distal portion of the mother centriole/basal body and is required for timely cilium disassembly at the G2/M transition. Eur J Cell Biol 2012, 91:675-686.
-
(2012)
Eur J Cell Biol
, vol.91
, pp. 675-686
-
-
Spalluto, C.1
Wilson, D.I.2
Hearn, T.3
-
45
-
-
84862780073
-
A size-exclusion permeability barrier and nucleoporins characterize a ciliary pore complex that regulates transport into cilia
-
Kee H.L., Dishinger J.F., Blasius T.L., Liu C.J., Margolis B., Verhey K.J. A size-exclusion permeability barrier and nucleoporins characterize a ciliary pore complex that regulates transport into cilia. Nat Cell Biol 2012, 14:431-437.
-
(2012)
Nat Cell Biol
, vol.14
, pp. 431-437
-
-
Kee, H.L.1
Dishinger, J.F.2
Blasius, T.L.3
Liu, C.J.4
Margolis, B.5
Verhey, K.J.6
-
46
-
-
78650723871
-
The Rho kinase Rock2b establishes anteroposterior asymmetry of the ciliated Kupffer's vesicle in zebrafish
-
Wang G., Cadwallader A.B., Jang D.S., Tsang M., Yost H.J., Amack J.D. The Rho kinase Rock2b establishes anteroposterior asymmetry of the ciliated Kupffer's vesicle in zebrafish. Development 2011, 138:45-54.
-
(2011)
Development
, vol.138
, pp. 45-54
-
-
Wang, G.1
Cadwallader, A.B.2
Jang, D.S.3
Tsang, M.4
Yost, H.J.5
Amack, J.D.6
-
47
-
-
84867073340
-
Dynamic and coordinated epigenetic regulation of developmental transitions in the cardiac lineage
-
Wamstad J.A., Alexander J.M., Truty R.M., Shrikumar A., Li F., Eilertson K.E., Ding H., Wylie J.N., Pico A.R., Capra J.A., et al. Dynamic and coordinated epigenetic regulation of developmental transitions in the cardiac lineage. Cell 2012, 151:206-220.
-
(2012)
Cell
, vol.151
, pp. 206-220
-
-
Wamstad, J.A.1
Alexander, J.M.2
Truty, R.M.3
Shrikumar, A.4
Li, F.5
Eilertson, K.E.6
Ding, H.7
Wylie, J.N.8
Pico, A.R.9
Capra, J.A.10
-
48
-
-
33646070846
-
A bivalent chromatin structure marks key developmental genes in embryonic stem cells
-
Bernstein B.E., Mikkelsen T.S., Xie X., Kamal M., Huebert D.J., Cuff J., Fry B., Meissner A., Wernig M., Plath K., et al. A bivalent chromatin structure marks key developmental genes in embryonic stem cells. Cell 2006, 125:315-326.
-
(2006)
Cell
, vol.125
, pp. 315-326
-
-
Bernstein, B.E.1
Mikkelsen, T.S.2
Xie, X.3
Kamal, M.4
Huebert, D.J.5
Cuff, J.6
Fry, B.7
Meissner, A.8
Wernig, M.9
Plath, K.10
-
49
-
-
77956642100
-
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
-
Ng S.B., Bigham A.W., Buckingham K.J., Hannibal M.C., McMillin M.J., Gildersleeve H.I., Beck A.E., Tabor H.K., Cooper G.M., Mefford H.C., et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010, 42:790-793.
-
(2010)
Nat Genet
, vol.42
, pp. 790-793
-
-
Ng, S.B.1
Bigham, A.W.2
Buckingham, K.J.3
Hannibal, M.C.4
McMillin, M.J.5
Gildersleeve, H.I.6
Beck, A.E.7
Tabor, H.K.8
Cooper, G.M.9
Mefford, H.C.10
-
50
-
-
84871607388
-
KDM6A point mutations cause Kabuki syndrome
-
Miyake N., Mizuno S., Okamoto N., Ohashi H., Shiina M., Ogata K., Tsurusaki Y., Nakashima M., Saitsu H., Niikawa N., et al. KDM6A point mutations cause Kabuki syndrome. Hum Mutat 2013, 34:108-110.
-
(2013)
Hum Mutat
, vol.34
, pp. 108-110
-
-
Miyake, N.1
Mizuno, S.2
Okamoto, N.3
Ohashi, H.4
Shiina, M.5
Ogata, K.6
Tsurusaki, Y.7
Nakashima, M.8
Saitsu, H.9
Niikawa, N.10
-
51
-
-
4444239112
-
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
-
Vissers L.E., van Ravenswaaij C.M., Admiraal R., Hurst J.A., de Vries B.B., Janssen I.M., van der Vliet W.A., Huys E.H., de Jong P.J., Hamel B.C., et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 2004, 36:955-957.
-
(2004)
Nat Genet
, vol.36
, pp. 955-957
-
-
Vissers, L.E.1
van Ravenswaaij, C.M.2
Admiraal, R.3
Hurst, J.A.4
de Vries, B.B.5
Janssen, I.M.6
van der Vliet, W.A.7
Huys, E.H.8
de Jong, P.J.9
Hamel, B.C.10
-
52
-
-
77952888699
-
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
-
Hoischen A., van Bon B.W., Gilissen C., Arts P., van Lier B., Steehouwer M., de Vries P., de Reuver R., Wieskamp N., Mortier G., et al. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet 2010, 42:483-485.
-
(2010)
Nat Genet
, vol.42
, pp. 483-485
-
-
Hoischen, A.1
van Bon, B.W.2
Gilissen, C.3
Arts, P.4
van Lier, B.5
Steehouwer, M.6
de Vries, P.7
de Reuver, R.8
Wieskamp, N.9
Mortier, G.10
-
53
-
-
20244368362
-
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome
-
Kleefstra T., Smidt M., Banning M.J., Oudakker A.R., Van Esch H., de Brouwer A.P., Nillesen W., Sistermans E.A., Hamel B.C., de Bruijn D., et al. Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. J Med Genet 2005, 42:299-306.
-
(2005)
J Med Genet
, vol.42
, pp. 299-306
-
-
Kleefstra, T.1
Smidt, M.2
Banning, M.J.3
Oudakker, A.R.4
Van Esch, H.5
de Brouwer, A.P.6
Nillesen, W.7
Sistermans, E.A.8
Hamel, B.C.9
de Bruijn, D.10
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