-
1
-
-
34249904394
-
Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance
-
DOI 10.1002/ajmg.a.31757
-
Kline AD, Krantz ID, Sommer A et al: Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A 2007; 143: 1287-1296. (Pubitemid 46870094)
-
(2007)
American Journal of Medical Genetics, Part A
, vol.143
, Issue.12
, pp. 1287-1296
-
-
Kline, A.D.1
Krantz, I.D.2
Sommer, A.3
Kliewer, M.4
Jackson, L.G.5
FitzPatrick, D.R.6
Levin, A.V.7
Selicorni, A.8
-
2
-
-
0001781268
-
Cornelia de Lange syndrome: Clinical features, common complications and long-term prognosis
-
Ireland M: Cornelia de Lange syndrome: clinical features, common complications and long-term prognosis. Curr Paediatr 1996; 6: 69-73. (Pubitemid 126691354)
-
(1996)
Current Paediatrics
, vol.6
, Issue.2
, pp. 69-73
-
-
Ireland, M.1
-
3
-
-
0027503882
-
Developmental data on individuals with the Brachmann-de Lange syndrome
-
DOI 10.1002/ajmg.1320470724
-
Kline AD, Stanley C, Belevich J, Brodsky K, Barr M, Jackson LG: Developmental data on individuals with the Brachmann-de Lange syndrome. Am J Med Genet 1993; 47: 1053-1058. (Pubitemid 23323410)
-
(1993)
American Journal of Medical Genetics
, vol.47
, Issue.7
, pp. 1053-1058
-
-
Kline, A.D.1
Stanley, C.2
Belevich, J.3
Brodsky, K.4
Barr, M.5
Jackson, L.G.6
-
4
-
-
33745909174
-
Genotype-Phenotype correlations of 39 patients with Cornelia de Lange syndrome: The Dutch experience
-
Bhuiyan Z, Klein M, Hammond P et al: Genotype-Phenotype correlations of 39 patients with Cornelia de Lange syndrome: the Dutch experience. J Med Genet 2005; 43: 568-575.
-
(2005)
J Med Genet
, vol.43
, pp. 568-575
-
-
Bhuiyan, Z.1
Klein, M.2
Hammond, P.3
-
5
-
-
4544253309
-
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations
-
DOI 10.1086/424698
-
Gillis LA, McCallum J, Kaur M et al: NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet 2004; 75: 610-623. (Pubitemid 39244775)
-
(2004)
American Journal of Human Genetics
, vol.75
, Issue.4
, pp. 610-623
-
-
Gillis, L.A.1
McCallum, J.2
Kaur, M.3
DeScipio, C.4
Yaeger, D.5
Mariani, A.6
Kline, A.D.7
Li, H.-H.8
Devoto, M.9
Jackson, L.G.10
Krantz, I.D.11
-
6
-
-
2642542322
-
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
-
DOI 10.1038/ng1364
-
Krantz ID, McCallum J, DeScipio C et al: Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 2004; 36: 631-635. (Pubitemid 38715992)
-
(2004)
Nature Genetics
, vol.36
, Issue.6
, pp. 631-635
-
-
Krantz, I.D.1
McCallum, J.2
DeScipio, C.3
Kaur, M.4
Gillis, L.A.5
Yaeger, D.6
Jukofsky, L.7
Wasserman, N.8
Bottani, A.9
Morris, C.A.10
Nowaczyk, M.J.M.11
Toriello, H.12
Bamshad, M.J.13
Carey, J.C.14
Rappaport, E.15
Kawauchi, S.16
Lander, A.D.17
Calof, A.L.18
Li, H.-H.19
Devoto, M.20
Jackson, L.G.21
more..
-
7
-
-
2642565901
-
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
-
DOI 10.1038/ng1363
-
Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T: NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 2004; 36: 636-641. (Pubitemid 38715993)
-
(2004)
Nature Genetics
, vol.36
, Issue.6
, pp. 636-641
-
-
Tonkin, E.T.1
Wang, T.-J.2
Lisgo, S.3
Bamshad, M.J.4
Strachan, T.5
-
8
-
-
33745600166
-
Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome
-
DOI 10.1002/ajmg.a.31305
-
Yan J, Saifi GM, Wierzba TH et al: Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome. Am J Med Genet A 2006; 140: 1531-1541. (Pubitemid 43993112)
-
(2006)
American Journal of Medical Genetics, Part A
, vol.140
, Issue.14
, pp. 1531-1541
-
-
Yan, J.1
Saifi, G.M.2
Wierzba, T.H.3
Withers, M.4
Bien-Willner, G.A.5
Limon, J.6
Stankiewicz, P.7
Lupski, J.R.8
Wierzba, J.9
-
9
-
-
34249864290
-
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation
-
DOI 10.1111/j.1399-0004.2007.00832.x
-
Selicorni A, Russo S, Gervasini C et al: Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. Clin Genet 2007; 72: 98-108. (Pubitemid 47262079)
-
(2007)
Clinical Genetics
, vol.72
, Issue.2
, pp. 98-108
-
-
Selicorni, A.1
Russo, S.2
Gervasini, C.3
Castronovo, P.4
Milani, D.5
Cavalleri, F.6
Bentivegna, A.7
Masciadri, M.8
Domi, A.9
Divizia, M.T.10
Sforzini, C.11
Tarantino, E.12
Memo, L.13
Scarano, G.14
Larizza, L.15
-
10
-
-
77950443282
-
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome
-
Pie J, Gil-Rodriguez MC, Ciero M et al: Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. Am J Med Genet A 2010; 152A: 924-929.
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 924-929
-
-
Pie, J.1
Gil-Rodriguez, M.C.2
Ciero, M.3
-
11
-
-
33847704182
-
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations
-
Borck G, Zarhrate M, Bonnefont JP, Munnich A, Cormier-Daire V, Colleaux L: Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. Hum Mutat 2007; 28: 205-206.
-
(2007)
Hum Mutat
, vol.28
, pp. 205-206
-
-
Borck, G.1
Zarhrate, M.2
Bonnefont, J.P.3
Munnich, A.4
Cormier-Daire, V.5
Colleaux, L.6
-
12
-
-
33847196427
-
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation
-
Deardorff MA, Kaur M, Yaeger D et al: Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet 2007; 80: 485-494.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 485-494
-
-
Deardorff, M.A.1
Kaur, M.2
Yaeger, D.3
-
13
-
-
70350702802
-
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome
-
Liu J, Feldman R, Zhang Z et al: SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Hum Mutat 2009.
-
(2009)
Hum Mutat
-
-
Liu, J.1
Feldman, R.2
Zhang, Z.3
-
14
-
-
33646379870
-
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
-
Musio A, Selicorni A, Focarelli ML et al: X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 2006; 38: 528-530.
-
(2006)
Nat Genet
, vol.38
, pp. 528-530
-
-
Musio, A.1
Selicorni, A.2
Focarelli, M.L.3
-
15
-
-
4544326520
-
A novel gene is disrupted by a Cornelia de Lange-associated translocation breakpoint at 3q26 .3
-
Tonkin E, Smith M, Eichhorn P et al: A novel gene is disrupted by a Cornelia de Lange-associated translocation breakpoint at 3q26 .3. Am J Hum Genet 2001; 69: A618.
-
(2001)
Am J Hum Genet
, vol.69
-
-
Tonkin, E.1
Smith, M.2
Eichhorn, P.3
-
16
-
-
0033018842
-
Nipped-B, a Drosophila homologue of chromosomal adherins, participates in activation by remote enhancers in the cut and Ultrabithorax genes
-
Rollins RA, Morcillo P, Dorsett D: Nipped-B, a Drosophila homologue of chromosomal adherins, participates in activation by remote enhancers in the cut and Ultrabithorax genes. Genetics 1999; 152: 577-593. (Pubitemid 29272711)
-
(1999)
Genetics
, vol.152
, Issue.2
, pp. 577-593
-
-
Rollins, R.A.1
Morcillo, P.2
Dorsett, D.3
-
17
-
-
0033859660
-
Cohesin's binding to chromosomes depends on a separate complex consisting of Scc2 and Scc4 proteins
-
Ciosk R, Shirayama M, Shevchenko A, Tanaka T, Toth A, Nasmyth K: Cohesin's binding to chromosomes depends on a separate complex consisting of Scc2 and Scc4 proteins. Mol Cell 2000; 5: 243-254. (Pubitemid 30628083)
-
(2000)
Molecular Cell
, vol.5
, Issue.2
, pp. 243-254
-
-
Ciosk, R.1
Shirayama, M.2
Shevchenko, A.3
Tanaka, T.4
Toth, A.5
Shevchenko, A.6
Nasmyth, K.7
-
18
-
-
4644280172
-
Scc2 couples replication licensing to sister chromatid cohesion in Xenopus egg extracts
-
DOI 10.1016/j.cub.2004.07.053, PII S0960982204005603
-
Gillespie PJ, Hirano T: Scc2 couples replication licensing to sister chromatid cohesion in Xenopus egg extracts. Curr Biol 2004; 14: 1598-1603. (Pubitemid 39290060)
-
(2004)
Current Biology
, vol.14
, Issue.17
, pp. 1598-1603
-
-
Gillespie, P.J.1
Hirano, T.2
-
19
-
-
5444220661
-
Recruitment of Xenopus Scc2 and cohesin to chromatin requires the pre-replication complex
-
DOI 10.1038/ncb1177
-
Takahashi TS, Yiu P, Chou MF, Gygi S, Walter JC: Recruitment of Xenopus Scc2 and cohesin to chromatin requires the pre-replication complex. Nat Cell Biol 2004; 6: 991-996. (Pubitemid 39359852)
-
(2004)
Nature Cell Biology
, vol.6
, Issue.10
, pp. 991-996
-
-
Takahashi, T.S.1
Yiu, P.2
Chou, M.F.3
Gygi, S.4
Walter, J.C.5
-
20
-
-
73349127026
-
Cohesin: Its roles and mechanisms
-
Nasmyth K, Haering CH: Cohesin: its roles and mechanisms. Annu Rev Genet 2009; 43: 525-558.
-
(2009)
Annu Rev Genet
, vol.43
, pp. 525-558
-
-
Nasmyth, K.1
Haering, C.H.2
-
21
-
-
34447309048
-
Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: Evidence for impaired recombinational repair
-
DOI 10.1093/hmg/ddm098
-
Vrouwe MG, Elghalbzouri-Maghrani E, Meijers M et al: Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair. Hum Mol Genet 2007; 16: 1478-1487. (Pubitemid 47055119)
-
(2007)
Human Molecular Genetics
, vol.16
, Issue.12
, pp. 1478-1487
-
-
Vrouwe, M.G.1
Elghalbzouri-Maghrani, E.2
Meijers, M.3
Schouten, P.4
Godthelp, B.C.5
Bhuiyan, Z.A.6
Redeker, E.J.7
Mannens, M.M.8
Mullenders, L.H.F.9
Pastink, A.10
Darroudi, F.11
-
22
-
-
14044258550
-
SMC1 involvement in fragile site expression
-
DOI 10.1093/hmg/ddi049
-
Musio A, Montagna C, Mariani T et al: SMC1 involvement in fragile site expression. Hum Mol Genet 2005; 14: 525-533. (Pubitemid 40277468)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.4
, pp. 525-533
-
-
Musio, A.1
Montagna, C.2
Mariani, T.3
Tilenni, M.4
Focarelli, M.L.5
Brait, L.6
Indino, E.7
Benedetti, P.A.8
Chessa, L.9
Albertini, A.10
Reid, T.11
Vezzoni, P.12
-
23
-
-
56649123545
-
The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications
-
Jahnke P, Xu W, Wulling M et al: The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications. Nucleic Acids Res 2008; 36: 6450-6458.
-
(2008)
Nucleic Acids Res
, vol.36
, pp. 6450-6458
-
-
Jahnke, P.1
Xu, W.2
Wulling, M.3
-
24
-
-
76149096854
-
Cohesinopathy mutations disrupt the subnuclear organization of chromatin
-
Gard S, Light W, Xiong B et al: Cohesinopathy mutations disrupt the subnuclear organization of chromatin. J Cell Biol 2009; 187: 455-462.
-
(2009)
J Cell Biol
, vol.187
, pp. 455-462
-
-
Gard, S.1
Light, W.2
Xiong, B.3
-
25
-
-
78049391383
-
Dosage-sensitive regulation of cohesin chromosome binding and dynamics by Nipped-B, Pds5, and Wapl
-
Gause M, Misulovin Z, Bilyeu A, Dorsett D: Dosage-sensitive regulation of cohesin chromosome binding and dynamics by Nipped-B, Pds5, and Wapl. Mol Cell Biol 2010; 30: 4940-4951.
-
(2010)
Mol Cell Biol
, vol.30
, pp. 4940-4951
-
-
Gause, M.1
Misulovin, Z.2
Bilyeu, A.3
Dorsett, D.4
-
26
-
-
38349177548
-
Association of cohesin and Nipped-B with transcriptionally active regions of the Drosophila melanogaster genome
-
Misulovin Z, Schwartz YB, Li XY et al: Association of cohesin and Nipped-B with transcriptionally active regions of the Drosophila melanogaster genome. Chromosoma 2008; 117: 89-102.
-
(2008)
Chromosoma
, vol.117
, pp. 89-102
-
-
Misulovin, Z.1
Schwartz, Y.B.2
Li, X.Y.3
-
27
-
-
38849173178
-
Cell-type-specific tev protease cleavage reveals cohesin functions in drosophila neurons
-
DOI 10.1016/j.devcel.2007.12.009, PII S1534580707004868
-
Pauli A, Althoff F, Oliveira RA et al: Cell-type-specific TEV protease cleavage reveals cohesin functions in Drosophila neurons. Dev Cell 2008; 14: 239-251. (Pubitemid 351189182)
-
(2008)
Developmental Cell
, vol.14
, Issue.2
, pp. 239-251
-
-
Pauli, A.1
Althoff, F.2
Oliveira, R.A.3
Heidmann, S.4
Schuldiner, O.5
Lehner, C.F.6
Dickson, B.J.7
Nasmyth, K.8
-
28
-
-
63049139061
-
Cohesin, gene expression and development: Lessons from Drosophila
-
Dorsett D: Cohesin, gene expression and development: lessons from Drosophila. Chromosome Res 2009; 17: 185-200.
-
(2009)
Chromosome Res
, vol.17
, pp. 185-200
-
-
Dorsett, D.1
-
29
-
-
77955267029
-
Positive regulation of c-Myc by cohesin is direct, and evolutionarily conserved
-
Rhodes JM, Bentley FK, Print CG et al: Positive regulation of c-Myc by cohesin is direct, and evolutionarily conserved. Dev Biol 2010; 344: 637-649.
-
(2010)
Dev Biol
, vol.344
, pp. 637-649
-
-
Rhodes, J.M.1
Bentley, F.K.2
Print, C.G.3
-
30
-
-
34547762839
-
Cohesin-dependent regulation of Runx genes
-
DOI 10.1242/dev.002485
-
Horsfield JA, Anagnostou SH, Hu JK et al: Cohesin-dependent regulation of Runx genes. Development 2007; 134: 2639-2649. (Pubitemid 47225960)
-
(2007)
Development
, vol.134
, Issue.14
, pp. 2639-2649
-
-
Horsfield, J.A.1
Anagnostou, S.H.2
Hu, J.K.-H.3
Cho, K.H.Y.4
Geisler, R.5
Lieschke, G.6
Crosier, K.E.7
Crosier, P.S.8
-
31
-
-
70349690201
-
Multiple organ system defects and transcriptional dysregulation in the Nipbl(f/r) mouse a model of Cornelia de Lange Syndrome
-
Kawauchi S, Calof AL, Santos R et al: Multiple organ system defects and transcriptional dysregulation in the Nipbl(f/r) mouse, a model of Cornelia de Lange Syndrome. PLoS Genet 2009; 5: e1000650.
-
(2009)
PLoS Genet
, vol.5
-
-
Kawauchi, S.1
Calof, A.L.2
Santos, R.3
-
32
-
-
77957139539
-
Mediator and cohesin connect gene expression and chromatin architecture
-
Kagey MH, Newman JJ, Bilodeau S et al: Mediator and cohesin connect gene expression and chromatin architecture. Nature 2010; 467: 430-435.
-
(2010)
Nature
, vol.467
, pp. 430-435
-
-
Kagey, M.H.1
Newman, J.J.2
Bilodeau, S.3
-
33
-
-
66249144416
-
Transcriptional dysregulation in NIPBL and cohesin mutant human cells
-
Liu J, Zhang Z, Bando M et al: Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol 2009; 7: e1000119.
-
(2009)
PLoS Biol
, vol.7
-
-
Liu, J.1
Zhang, Z.2
Bando, M.3
-
34
-
-
39149121436
-
Cohesin mediates transcriptional insulation by CCCTC-binding factor
-
DOI 10.1038/nature06634, PII NATURE06634
-
Wendt KS, Yoshida K, Itoh T et al: Cohesin mediates transcriptional insulation by CCCTC-binding factor. Nature 2008; 451: 796-801. (Pubitemid 351253176)
-
(2008)
Nature
, vol.451
, Issue.7180
, pp. 796-801
-
-
Wendt, K.S.1
Yoshida, K.2
Itoh, T.3
Bando, M.4
Koch, B.5
Schirghuber, E.6
Tsutsumi, S.7
Nagae, G.8
Ishihara, K.9
Mishiro, T.10
Yahata, K.11
Imamoto, F.12
Aburatani, H.13
Nakao, M.14
Imamoto, N.15
Maeshima, K.16
Shirahige, K.17
Peters, J.-M.18
-
35
-
-
70349613201
-
The Scc2/Scc4 cohesin loader determines the distribution of cohesin on budding yeast chromosomes
-
Kogut I, Wang J, Guacci V, Mistry RK, Megee PC: The Scc2/Scc4 cohesin loader determines the distribution of cohesin on budding yeast chromosomes. Genes Dev 2009; 23: 2345-2357.
-
(2009)
Genes Dev
, vol.23
, pp. 2345-2357
-
-
Kogut, I.1
Wang, J.2
Guacci, V.3
Mistry, R.K.4
Megee, P.C.5
-
36
-
-
33646199189
-
Human Scc4 is required for cohesin binding to chromatin, sister-chromatid cohesion, and mitotic progression
-
Watrin E, Schleiffer A, Tanaka K, Eisenhaber F, Nasmyth K, Peters JM: Human Scc4 is required for cohesin binding to chromatin, sister-chromatid cohesion, and mitotic progression. Curr Biol 2006; 16: 863-874.
-
(2006)
Curr Biol
, vol.16
, pp. 863-874
-
-
Watrin, E.1
Schleiffer, A.2
Tanaka, K.3
Eisenhaber, F.4
Nasmyth, K.5
Peters, J.M.6
-
37
-
-
33747368147
-
Metazoan Scc4 Homologs link sister chromatid cohesion to cell and axon migration Guidance
-
Seitan VC, Banks P, Laval S et al: Metazoan Scc4 Homologs link sister chromatid cohesion to cell and axon migration Guidance. PLoS Biol 2006; 4: 1411-1425.
-
(2006)
PLoS Biol
, vol.4
, pp. 1411-1425
-
-
Seitan, V.C.1
Banks, P.2
Laval, S.3
-
38
-
-
47549096990
-
Cdc7-Drf1 kinase links chromosome cohesion to the initiation of DNA replication in Xenopus egg extracts
-
DOI 10.1101/gad.1683308
-
Takahashi TS, Basu A, Bermudez V, Hurwitz J, Walter JC: Cdc7-Drf1 kinase links chromosome cohesion to the initiation of DNA replication in Xenopus egg extracts. Genes Dev 2008; 22: 1894-1905. (Pubitemid 352008638)
-
(2008)
Genes and Development
, vol.22
, Issue.14
, pp. 1894-1905
-
-
Takahashi, T.S.1
Basu, A.2
Bermudez, V.3
Hurwitz, J.4
Walter, J.C.5
-
39
-
-
12344302590
-
Mau-2 acts cell-autonomously to guide axonal migrations in Caenorhabditis elegans
-
DOI 10.1242/dev.01433
-
Benard CY, Kebir H, Takagi S, Hekimi S: mau-2 acts cell-autonomously to guide axonal migrations in Caenorhabditis elegans. Development 2004; 131: 5947-5958. (Pubitemid 40123910)
-
(2004)
Development
, vol.131
, Issue.23
, pp. 5947-5958
-
-
Benard, C.Y.1
Kebir, H.2
Takagi, S.3
Hekimi, S.4
-
40
-
-
3242880374
-
Cohesin relocation from sites of chromosomal loading to places of convergent transcription
-
DOI 10.1038/nature02742
-
Lengronne A, Katou Y, Mori S et al: Cohesin relocation from sites of chromosomal loading to places of convergent transcription. Nature 2004; 430: 573-578. (Pubitemid 38998632)
-
(2004)
Nature
, vol.430
, Issue.6999
, pp. 573-578
-
-
Lengronne, A.1
Katou, Y.2
Mori, S.3
Yokabayashi, S.4
Kelly, G.P.5
Ito, T.6
Watanabe, Y.7
Shirahige, K.8
Uhlmann, F.9
-
41
-
-
33847407062
-
Mutation scanning the GJB1 gene with high-resolution melting analysis: Implications for mutation scanning of genes for Charcot-Marie-Tooth disease
-
DOI 10.1373/clinchem.2006.080010
-
Kennerson ML, Warburton T, Nelis E et al: Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. Clin Chem 2007; 53: 349-352. (Pubitemid 46338281)
-
(2007)
Clinical Chemistry
, vol.53
, Issue.2
, pp. 349-352
-
-
Kennerson, M.M.1
Warburton, T.2
Nelis, E.3
Brewer, M.4
Polly, P.5
De Jonghe, P.6
Timmerman, V.7
Nicholson, G.A.8
-
42
-
-
24344440548
-
Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome
-
DOI 10.1002/ajmg.a.30919
-
Kaur M, DeScipio C, McCallum J et al: Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. Am J Med Genet A 2005; 138: 27-31. (Pubitemid 41262640)
-
(2005)
American Journal of Medical Genetics
, vol.A138
, Issue.1
, pp. 27-31
-
-
Kaur, M.1
DeScipio, C.2
McCallum, J.3
Yaeger, D.4
Devoto, M.5
Jackson, L.G.6
Spinner, N.B.7
Krantz, I.D.8
-
43
-
-
0033987736
-
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
-
DOI 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N
-
den Dunnen JT, Antonarakis SE: Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000; 15: 7-12. (Pubitemid 30036162)
-
(2000)
Human Mutation
, vol.15
, Issue.1
, pp. 7-12
-
-
Den Dunnen, J.T.1
Antonarakis, S.E.2
-
44
-
-
34848904050
-
Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation
-
DOI 10.1086/521274
-
Wagenstaller J, Spranger S, Lorenz-Depiereux B et al: Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. Am J Hum Genet 2007; 81: 768-779. (Pubitemid 47596544)
-
(2007)
American Journal of Human Genetics
, vol.81
, Issue.4
, pp. 768-779
-
-
Wagenstaller, J.1
Spranger, S.2
Lorenz-Depiereux, B.3
Kazmierczak, B.4
Nathrath, M.5
Wahl, D.6
Heye, B.7
Glaser, D.8
Liebscher, V.9
Meitinger, T.10
Strom, T.M.11
-
45
-
-
21144443363
-
NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome
-
Borck G, Redon R, Sanlaville D et al: NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome. J Med Genet 2004; 41: e128.
-
(2004)
J Med Genet
, vol.41
-
-
Borck, G.1
Redon, R.2
Sanlaville, D.3
-
46
-
-
33846300688
-
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients
-
DOI 10.1038/sj.ejhg.5201737, PII 5201737
-
Schoumans J, Wincent J, Barbaro M et al: Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients. Eur J Hum Genet 2007; 15: 143-149. (Pubitemid 46111851)
-
(2007)
European Journal of Human Genetics
, vol.15
, Issue.2
, pp. 143-149
-
-
Schoumans, J.1
Wincent, J.2
Barbaro, M.3
Djureinovic, T.4
Maguire, P.5
Forsberg, L.6
Staaf, J.7
Thuresson, A.C.8
Borg, A.9
Nordgren, A.10
Malm, G.11
Anderlid, B.M.12
-
47
-
-
37649006830
-
Descriptive epidemiology of Cornelia de Lange syndrome in Europe
-
Barisic I, Tokic V, Loane M et al: Descriptive epidemiology of Cornelia de Lange syndrome in Europe. Am J Med Genet A 2008; 146A: 51-59.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 51-59
-
-
Barisic, I.1
Tokic, V.2
Loane, M.3
-
48
-
-
70349878942
-
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome
-
Castronovo P, Gervasini C, Cereda A et al: Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome. Chromosome Res 2009; 17: 763-771.
-
(2009)
Chromosome Res
, vol.17
, pp. 763-771
-
-
Castronovo, P.1
Gervasini, C.2
Cereda, A.3
-
49
-
-
58149158042
-
On the molecular etiology of Cornelia de Lange syndrome
-
Dorsett D, Krantz ID: On the molecular etiology of Cornelia de Lange syndrome. Ann NY Acad Sci 2009; 1151: 22-37.
-
(2009)
Ann NY Acad Sci
, vol.1151
, pp. 22-37
-
-
Dorsett, D.1
Krantz, I.D.2
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