-
2
-
-
0000358890
-
Ein fall von symmetrischer monodactylie durch ulnadefekt mit symmetrischer flughautbildung in den ellenbeugen sowie anderen abnormalitaten (zwerghaftigkeit halsrippen behaarung)
-
Brachmann W. Ein fall von symmetrischer monodactylie durch ulnadefekt, mit symmetrischer flughautbildung in den ellenbeugen, sowie anderen abnormalitaten (zwerghaftigkeit, halsrippen, behaarung). Jahrbuch Kinderheilkd 1916; 84.
-
(1916)
Jahrbuch Kinderheilkd
, vol.84
-
-
Brachmann, W.1
-
3
-
-
0001547083
-
Sur un type nouveau de dégénération (typus Amstelodamensis) [ On a new type of degeneration (type Amsterdam)]
-
de Lange C. Sur un type nouveau de dégénération (typus Amstelodamensis) [On a new type of degeneration (type Amsterdam)]. Arch Méd Enfants 1933; 36.
-
(1933)
Arch Méd Enfants
, vol.36
-
-
De Lange, C.1
-
4
-
-
0028509933
-
Historical study: Cornelia C. de Lange (1871-1950)-A pioneer in clinical genetics
-
de Knecht-van Eekelen A, Hennekam RC. Historical study: Cornelia C. de Lange (1871-1950)-a pioneer in clinical genetics. Am J Med Genet 1994; 52:257-266.
-
(1994)
Am J Med Genet
, vol.52
, pp. 257-266
-
-
De Knecht-Van Eekelen, A.1
Hennekam, R.C.2
-
6
-
-
0027423908
-
Brachmann-de Lange syndrome. Delineation of the clinical phenotype
-
DOI 10.1002/ajmg.1320470705
-
Ireland M, Donnai D, Burn J. Brachmann-de Lange syndrome. Delineation of the clinical phenotype. Am J Med Genet 1993; 47:959-964. (Pubitemid 23323391)
-
(1993)
American Journal of Medical Genetics
, vol.47
, Issue.7
, pp. 959-964
-
-
Ireland, M.1
Donnai, D.2
Burn, J.3
-
7
-
-
0021970795
-
The Brachmann-de Lange syndrome
-
Opitz JM. The Brachmann-de Lange syndrome. Am J Med Genet 1985; 22:89-102.
-
(1985)
Am J Med Genet
, vol.22
, pp. 89-102
-
-
Opitz, J.M.1
-
8
-
-
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
-
9
-
-
0027366126
-
Clinical variability within Brachmann-de Lange syndrome: A proposed classification system
-
DOI 10.1002/ajmg.1320470704
-
Van Allen MI, Filippi G, Siegel-Bartelt J et al. Clinical variability within Brachmann-de Lange syndrome: A proposed classification system. Am J Med Genet 1993; 47:947-958. (Pubitemid 23323390)
-
(1993)
American Journal of Medical Genetics
, vol.47
, Issue.7
, pp. 947-958
-
-
Van Allen, M.I.1
Filippi, G.2
Siegel-Bartelt, J.3
Yong, S.-L.4
McGillivray, B.5
Zuker, R.M.6
Smith, C.R.7
Magee, J.F.8
Ritchie, S.9
Toi, A.10
Reynolds, J.F.11
-
10
-
-
0027429308
-
Variability of the Brachmann-de Lange syndrome
-
DOI 10.1002/ajmg.1320470708
-
Selicorni A, Lalatta F, Livini E et al. Variability of the Brachmann-de Lange syndrome. Am J Med Genet 1993; 47:977-982. (Pubitemid 23323394)
-
(1993)
American Journal of Medical Genetics
, vol.47
, Issue.7
, pp. 977-982
-
-
Selicorni, A.1
Lalatta, F.2
Livini, E.3
Briscioli, V.4
Piguzzi, T.5
Bagozzi, D.C.6
Mastroiacovo, P.7
Zampino, G.8
Gaeta, G.9
Pugliese, A.10
Cerutti-Mainaroli, P.11
Guala, A.12
Zelante, L.13
Stabile, M.14
Belli, S.15
Franceschini, P.16
Gianotti, A.17
Scarano, G.18
-
12
-
-
0030788742
-
De Lange syndrome: Subjective and objective comparison of the classical and mild phenotypes
-
Allanson JE, Hennekam RC, Ireland M. De Lange syndrome: Subjective and objective comparison of the classical and mild phenotypes. J Med Genet 1997; 34:645-650. (Pubitemid 27356882)
-
(1997)
Journal of Medical Genetics
, vol.34
, Issue.8
, pp. 645-650
-
-
Allanson, J.E.1
Hennekam, R.C.M.2
Ireland, M.3
-
13
-
-
0024576581
-
Mild Brachmann-de Lange syndrome: Changes of phenotype with age
-
DOI 10.1002/ajmg.1320320119
-
Greenberg F, Robinson LK. Mild Brachmann-de Lange syndrome: Changes of phenotype with age. Am J Med Genet 1989; 32:90-92. (Pubitemid 19049817)
-
(1989)
American Journal of Medical Genetics
, vol.32
, Issue.1
, pp. 90-92
-
-
Greenberg, F.1
Robinson, L.K.2
-
15
-
-
0035892937
-
Dominant paternal transmission of Cornelia de Lange syndrome: A new case and review of 25 previously reported familial recurrences
-
DOI 10.1002/ajmg.10066
-
Russell KL, Ming JE, Patel K et al. Dominant paternal transmission of Cornelia de Lange syndrome: A new case and review of 25 previously reported familial recurrences. Am J Med Genet 2001; 104:267-276. (Pubitemid 33131640)
-
(2001)
American Journal of Medical Genetics
, vol.104
, Issue.4
, pp. 267-276
-
-
Russell, K.L.1
Ming, J.E.2
Patel, K.3
Jukofsky, L.4
Magnusson, M.5
Krantz, I.D.6
-
16
-
-
34548070779
-
Natural history of aging in Cornelia de Lange syndrome
-
DOI 10.1002/ajmg.c.30137
-
Kline AD, Grados M, Sponseller P et al. Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet 2007; 145C:248-260. (Pubitemid 47291933)
-
(2007)
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
, vol.145
, Issue.3
, pp. 248-260
-
-
Kline, A.D.1
Grados, M.2
Sponseller, P.3
Levy, H.P.4
Blagowidow, N.5
Schoedel, C.6
Rampolla, J.7
Clemens, D.K.8
Krantz, I.9
Kimball, A.10
Pichard, C.11
Tuchman, D.12
-
17
-
-
48749120257
-
Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes
-
Moss JF, Oliver C, Berg K et al. Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes. Am J Ment Retard 2008; 113:278-291.
-
(2008)
Am J Ment Retard
, vol.113
, pp. 278-291
-
-
Moss, J.F.1
Oliver, C.2
Berg, K.3
-
18
-
-
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
-
19
-
-
33746943232
-
Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5 untranslated region of the NIPBL gene
-
DOI 10.1002/humu.20380
-
Borck G, Zarhrate M, Cluzeau C et al. Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene. Hum Mutat 2006; 27:731-735. (Pubitemid 44205065)
-
(2006)
Human Mutation
, vol.27
, Issue.8
, pp. 731-735
-
-
Borck, G.1
Zarhrate, M.2
Cluzeau, C.3
Bal, E.4
Bonnefont, J.-P.5
Munnich, A.6
Cormier-Daire, V.7
Colleaux, L.8
-
20
-
-
0032817937
-
Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies
-
DOI 10.1002/(SICI)1097-0223(199908)19:8<706::AID-PD613>3.0.CO;2-W
-
Aitken DA, Ireland M, Berry E et al. Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies. Prenatal Diagnosis 1999; 19:706-710. (Pubitemid 29385397)
-
(1999)
Prenatal Diagnosis
, vol.19
, Issue.8
, pp. 706-710
-
-
Aitken, D.A.1
Ireland, M.2
Berry, E.3
Crossley, J.A.4
Macri, J.N.5
Burn, J.6
Connor, J.M.7
-
21
-
-
0142041959
-
Low first-trimester pregnancy-associated plasma protein-A and Cornelia de Lange syndrome [3]
-
DOI 10.1002/pd.690
-
Arbuzova S, Nikolenko M, Krantz D et al. Low first-trimester pregnancy-associated plasma protein-A and Cornelia de Lange syndrome. Prenatal Diagnosis 2003; 23:864. (Pubitemid 37279877)
-
(2003)
Prenatal Diagnosis
, vol.23
, Issue.10
, pp. 864
-
-
Arbuzova, S.1
Nikolenko, M.2
Krantz, D.3
Hallahan, T.4
Macri, J.5
-
22
-
-
0020960519
-
Pregnancy-associated plasma protein A: A possible marker in the classification and prenatal diagnosis of Cornelia De Lange syndrome
-
DOI 10.1002/pd.1970030307
-
Westergaard JG, Chemnitz J, Teisner B et al. Pregnancy-associated plasma protein A: A possible marker in the classification and prenatal diagnosis of Cornelia de Lange syndrome. Prenatal Diagnosis 1983; 3:225-232. (Pubitemid 13001382)
-
(1983)
Prenatal Diagnosis
, vol.3
, Issue.3
, pp. 225-232
-
-
Westergaard, J.G.1
Chemnitz, J.2
Teisner, B.3
-
23
-
-
0036224610
-
Abnormal first-trimester fetal nuchal translucency and Cornelia de Lange syndrome
-
DOI 10.1016/S0029-7844(02)01982-8, PII S0029784402019828
-
Huang WH, Porto M. Abnormal first-trimester fetal nuchal translucency and Cornelia De Lange syndrome. Obstet Gynecol 2002; 99:956-958. (Pubitemid 34442435)
-
(2002)
Obstetrics and Gynecology
, vol.99
, Issue.5 SUPPL. 1
, pp. 956-958
-
-
Huang, W.H.1
Porto, M.2
-
25
-
-
34247119206
-
Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL
-
DOI 10.1097/GIM.0b013e31803183dd, PII 0012581720070300000008
-
Lalatta F, Russo S, Gentilin B et al. Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL. Genet Med 2007; 9:188-194. (Pubitemid 46597718)
-
(2007)
Genetics in Medicine
, vol.9
, Issue.3
, pp. 188-194
-
-
Lalatta, F.1
Russo, S.2
Gentilin, B.3
Spaccini, L.4
Boschetto, C.5
Cavalleri, F.6
Masciadri, M.7
Gervasini, C.8
Bentivegna, A.9
Castronovo, P.10
Larizza, L.11
-
26
-
-
1142298439
-
Prenatal Diagnosis of a 'Minor' Form of Brachmann-de Lange Syndrome by Three-Dimensional Sonography and Three-Dimensional Computed Tomography
-
DOI 10.1159/000075141
-
Le Vaillant C, Quere MP, David A et al. Prenatal diagnosis of a 'minor' form of Brachmann-de Lange syndrome by three-dimensional sonography and three-dimensional computed tomography. Fetal Diagn Ther 2004; 19:155-159. (Pubitemid 38209773)
-
(2004)
Fetal Diagnosis and Therapy
, vol.19
, Issue.2
, pp. 155-159
-
-
Le Vaillant, C.1
Quere, M.-P.2
David, A.3
Berlivet, M.4
Boog, G.5
-
27
-
-
0036191538
-
Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome
-
DOI 10.1002/pd.281
-
Marino T, Wheeler PG, Simpson LL et al. Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome. Prenatal Diagnosis 2002; 22:144-147. (Pubitemid 34193192)
-
(2002)
Prenatal Diagnosis
, vol.22
, Issue.2
, pp. 144-147
-
-
Marino, T.1
Wheeler, P.G.2
Simpson, L.L.3
Craigo, S.D.4
Bianchi, D.W.5
-
28
-
-
0028849899
-
Bilateral ulnar agenesis: Case report and review of the literature
-
Bozner P, Blackburn W, Cooley NR Jr. Bilateral ulnar agenesis: Case report and review of the literature. Pediatr Pathol Lab Med 1995; 15:895-913.
-
(1995)
Pediatr Pathol Lab Med
, vol.15
, pp. 895-913
-
-
Bozner, P.1
Blackburn, W.2
Cooley Jr., N.R.3
-
29
-
-
0027483693
-
Prenatal diagnosis of congenital diaphragmatic hernia not amenable to prenatal or neonatal repair: Brachmann-de Lange syndrome
-
DOI 10.1002/ajmg.1320470717
-
Jelsema RD, Isada NB, Kazzi NJ et al. Prenatal diagnosis of congenital diaphragmatic hernia not amenable to prenatal or neonatal repair: Brachmann-de Lange syndrome. Am J Med Genet 1993; 47:1022-1023. (Pubitemid 23323403)
-
(1993)
American Journal of Medical Genetics
, vol.47
, Issue.7
, pp. 1022-1023
-
-
Jelsema, R.D.1
Isada, N.B.2
Kazzi, N.J.3
Sargent, K.4
Harrison, M.R.5
Johnson, M.P.6
Evans, M.I.7
-
30
-
-
55049095560
-
Associated malformations in cases with congenital diaphragmatic hernia
-
(Geneva, Switzerland
-
Stoll C, Alembik Y, Dott B et al. Associated malformations in cases with congenital diaphragmatic hernia. Genetic counseling (Geneva, Switzerland) 2008; 19:331-339.
-
(2008)
Genetic Counseling
, vol.19
, pp. 331-339
-
-
Stoll, C.1
Alembik, Y.2
Dott, B.3
-
31
-
-
44849095262
-
Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome
-
DOI 10.1002/ajmg.a.32095
-
Baynam G, Goldblatt J, Walpole I. Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome. Am J Med Genet 2008; 146A:1565-1570. (Pubitemid 351792403)
-
(2008)
American Journal of Medical Genetics, Part A
, vol.146
, Issue.12
, pp. 1565-1570
-
-
Baynam, G.1
Goldblatt, J.2
Walpole, I.3
-
32
-
-
33751351635
-
Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome
-
Niu DM, Huang JY, Li HY et al. Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome. Prenatal Diagnosis 2006; 26:1054-1057.
-
(2006)
Prenatal Diagnosis
, vol.26
, pp. 1054-1057
-
-
Niu, D.M.1
Huang, J.Y.2
Li, H.Y.3
-
34
-
-
24344479481
-
Chromosome rearrangements in Cornelia de Lange Syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements
-
DOI 10.1002/ajmg.a.30857
-
DeScipio C, Kaur M, Yaeger D et al. Chromosome rearrangements in cornelia de Lange syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements. Am J Med Genet A 2005; 137:276-282. (Pubitemid 41262660)
-
(2005)
American Journal of Medical Genetics
, vol.137 A
, Issue.3
, pp. 276-282
-
-
DeScipio, C.1
Kaur, M.2
Yaeger, D.3
Innis, J.W.4
Spinner, N.B.5
Jackson, L.G.6
Krantz, I.D.7
-
35
-
-
11244302445
-
Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24-q26.31 with minimal overlap to the dup(3q) critical region
-
DOI 10.1002/ajmg.a.30384
-
Meins M, Hagh JK, Gerresheim F et al. Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24-q26.31 with minimal overlap to the dup(3q) critical region. Am J Med Genet A 2005; 132:84-89. (Pubitemid 40070568)
-
(2005)
American Journal of Medical Genetics
, vol.132 A
, Issue.1
, pp. 84-89
-
-
Meins, M.1
Hagh, J.K.2
Gerresheim, F.3
Einhoff, E.4
Olschewski, H.5
Strehl, H.6
Epplen, J.T.7
-
36
-
-
0030445512
-
Brachmann-de Lange syndrome: Autosomal dominant inheritance and male-to-male transmission
-
McKenney RR, Elder FF, Garcia J et al. Brachmann-de Lange syndrome: Autosomal dominant inheritance and male-to-male transmission. Am J Med Genet 1996; 66:449-452.
-
(1996)
Am J Med Genet
, vol.66
, pp. 449-452
-
-
McKenney, R.R.1
Elder, F.F.2
Garcia, J.3
-
37
-
-
0018563277
-
Trisomy in the distal end of the long arm of chromosome 3: A condition clinically similar to the Cornelia de Lange syndrome
-
Sciorra LJ, Bahng K, Lee ML. Trisomy in the distal end of the long arm of chromosome 3. A condition clinically similar to the Cornelia de Lange syndrome. Am J Dis Child 1979; 133:727-730. (Pubitemid 10094539)
-
(1979)
American Journal of Diseases of Children
, vol.133
, Issue.7
, pp. 727-730
-
-
Sciorra, L.J.1
Bahng, K.2
Lee, M.I.3
-
38
-
-
0017855091
-
The association of chromosome 3 duplication and the Cornelia de Lange syndrome
-
Wilson GN, Hieber VC, Schmickel RD. The association of chromosome 3 duplication and the Cornelia de Lange syndrome. J Pediatr 1978; 93:783-788. (Pubitemid 8397586)
-
(1978)
Journal of Pediatrics
, vol.93
, Issue.5
, pp. 783-788
-
-
Wilson, G.N.1
Hieber, V.C.2
Schmickel, R.D.3
-
39
-
-
0028158546
-
Partial trisomy 3q causing mild Cornelia de Lange phenotype
-
Holder SE, Grimsley LM, Palmer RW et al. Partial trisomy 3q causing mild Cornelia de Lange phenotype. J Med Genet 1994; 31:150-152. (Pubitemid 24056451)
-
(1994)
Journal of Medical Genetics
, vol.31
, Issue.2
, pp. 150-152
-
-
Holder, S.E.1
Grimsley, L.M.2
Palmer, R.W.3
Butler, L.J.4
Baraitser, M.5
-
40
-
-
0028939240
-
Duplication 3q syndrome: Molecular delineation of the critical region
-
Aqua MS, Rizzu P, Lindsay EA et al. Duplication 3q syndrome: Molecular delineation of the critical region. Am J Med Genet 1995; 55:33-37.
-
(1995)
Am J Med Genet
, vol.55
, pp. 33-37
-
-
Aqua, M.S.1
Rizzu, P.2
Lindsay, E.A.3
-
41
-
-
0029381763
-
Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype
-
Ireland M, English C, Cross I et al. Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype. J Med Genet 1995; 32:837-838.
-
(1995)
J Med Genet
, vol.32
, pp. 837-838
-
-
Ireland, M.1
English, C.2
Cross, I.3
-
42
-
-
0031037329
-
Delineation of a duplication map of chromosome 3q: A new case confirms the exclusion of 3q25-q26.2 from the duplication 3q syndrome critical region
-
DOI 10.1002/(SICI)1096-8628(19970211)68:4<428::AID-AJMG11>3.0.CO;2- U
-
Rizzu P, Haddad BR, Vallcorba I et al. Delineation of a duplication map of chromosome 3q: A new case confirms the exclusion of 3q25-q26.2 from the duplication 3q syndrome critical region. Am J Med Genet 1997; 68:428-432. (Pubitemid 27073711)
-
(1997)
American Journal of Medical Genetics
, vol.68
, Issue.4
, pp. 428-432
-
-
Rizzu, P.1
Haddad, B.R.2
Vallcorba, I.3
Alonso, A.4
Ferro, M.T.5
Garcia-Sagredo, J.M.6
Baldini, A.7
-
43
-
-
0032763778
-
Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes
-
DOI 10.1007/s004390051070
-
Smith M, Herrell S, Lusher M et al. Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes. Hum Genet 1999; 105:104-111. (Pubitemid 29396971)
-
(1999)
Human Genetics
, vol.105
, Issue.1-2
, pp. 104-111
-
-
Smith, M.1
Herrell, S.2
Lusher, M.3
Lako, L.4
Simpson, C.5
Wiestner, A.6
Skoda, R.7
Ireland, M.8
Strachan, T.9
-
44
-
-
0032478120
-
SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development
-
DOI 10.1073/pnas.95.5.2406
-
Blaschke RJ, Monaghan AP, Schiller S et al. SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart and limb development. Proc Natl Acad Sci USA 1998; 95:2406-2411. (Pubitemid 28145954)
-
(1998)
Proceedings of the National Academy of Sciences of the United States of America
, vol.95
, Issue.5
, pp. 2406-2411
-
-
Blaschke, R.J.1
Monaghan, A.P.2
Schiller, S.3
Schechinger, B.4
Rao, E.5
Padilla-Nash, H.6
Ried, T.7
Rappold, G.A.8
-
45
-
-
0031741114
-
A case of brachman de lange syndrome with cerebellar vermis hypoplasia [2]
-
Ozkinay F, Cogulu O, Gunduz C et al. A case of Brachman de Lange syndrome with cerebellar vermis hypoplasia. Clin Dysmorphol 1998; 7:303-305. (Pubitemid 28518766)
-
(1998)
Clinical Dysmorphology
, vol.7
, Issue.4
, pp. 303-305
-
-
Ozkinay, F.1
Cogulu, O.2
Gunduz, C.3
Levent, E.4
Ozkinay, C.5
-
46
-
-
3543047320
-
A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3
-
Tonkin ET, Smith M, Eichhorn P et al. A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. Hum Genet 2004; 115:139-148. (Pubitemid 39010928)
-
(2004)
Human Genetics
, vol.115
, Issue.2
, pp. 139-148
-
-
Tonkin, E.T.1
Smith, M.2
Eichhorn, P.3
Jones, S.4
Imamwerdi, B.5
Lindsay, S.6
Jackson, M.7
Wang, T.-J.8
Ireland, M.9
Burn, J.10
Krantz, I.D.11
Carr, P.12
Strachan, T.13
-
47
-
-
0035877214
-
Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange Syndrome
-
DOI 10.1002/1096-8628(20010615)101:2<120::AID-AJMG1319>3.0.CO;2-G
-
Krantz ID, Tonkin E, Smith M et al. Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome. Am J Med Genet 2001; 101:120-129. (Pubitemid 32520712)
-
(2001)
American Journal of Medical Genetics
, vol.101
, Issue.2
, pp. 120-129
-
-
Krantz, I.D.1
Tonkin, E.2
Smith, M.3
Devoto, M.4
Bottani, A.5
Simpson, C.6
Hofreiter, M.7
Abraham, V.8
Jukofsky, L.9
Conti, B.P.10
Strachan, T.11
Jackson, L.12
-
48
-
-
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..
-
49
-
-
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 et al. 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
-
50
-
-
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
-
51
-
-
0028950973
-
The DXS423E gene in Xp11.21 escapes X chromosome inactivation
-
Brown CJ, Miller AP, Carrel L et al. The DXS423E gene in Xp11.21 escapes X chromosome inactivation. Hum Mol Genet 1995; 4:251-255.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 251-255
-
-
Brown, C.J.1
Miller, A.P.2
Carrel, L.3
-
52
-
-
19444365725
-
Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation
-
DOI 10.1016/j.gde.2005.04.005, PII S0959437X05000572
-
Strachan T. Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation. Curr Opin Genet Dev 2005; 15:258-264. (Pubitemid 40726048)
-
(2005)
Current Opinion in Genetics and Development
, vol.15
, Issue.3 SPEC. ISS.
, pp. 258-264
-
-
Strachan, T.1
-
53
-
-
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
-
54
-
-
33745909174
-
Genotype-phenotype correlations of 39 patients with Cornelia de Lange syndrome: The Dutch experience
-
DOI 10.1136/jmg.2005.038240
-
Bhuiyan ZA, Klein M, Hammond P et al. Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: The Dutch experience. J Med Genet 2006; 43:568-575. (Pubitemid 44048763)
-
(2006)
Journal of Medical Genetics
, vol.43
, Issue.7
, pp. 568-575
-
-
Bhuiyan, Z.A.1
Klein, M.2
Hammond, P.3
Van Haeringen, A.4
Mannens, M.M.A.M.5
Van Berckelaer-Onnes, I.6
Hennekam, R.C.M.7
-
55
-
-
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
-
56
-
-
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
-
57
-
-
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
-
58
-
-
33847704182
-
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations
-
Borck G, Zarhrate M, Bonnefont JP et al. 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
-
59
-
-
33947676843
-
Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange Syndrome
-
DOI 10.1038/sj.ejhg.5201776, PII 5201776
-
Bhuiyan ZA, Stewart H, Redeker EJ et al. Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome. Eur J Hum Genet 2007; 15:505-508. (Pubitemid 46487708)
-
(2007)
European Journal of Human Genetics
, vol.15
, Issue.4
, pp. 505-508
-
-
Bhuiyan, Z.A.1
Stewart, H.2
Redeker, E.J.3
Mannens, M.M.A.M.4
Hennekam, R.C.M.5
-
60
-
-
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.138 A
, 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
-
61
-
-
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
-
62
-
-
0030899787
-
Nephrogenic rests and renal abnormalities in Brachmann-de Lange syndrome
-
DOI 10.1080/107710497174868
-
Charles AK, Porter HJ, Sams V et al. Nephrogenic rests and renal abnormalities in Brachmann-de Lange syndrome. Pediatr Pathol Lab Med 1997; 17:209-219. (Pubitemid 27133161)
-
(1997)
Pediatric Pathology and Laboratory Medicine
, vol.17
, Issue.2
, pp. 209-219
-
-
Charles, A.K.1
Porter, H.J.2
-
63
-
-
22244481613
-
The structure and function of SMC and kleisin complexes
-
DOI 10.1146/annurev.biochem.74.082803.133219
-
Nasmyth K, Haering CH. The structure and function of SMC and kleisin complexes. Annu Rev Biochem 2005; 74:595-648. (Pubitemid 40995519)
-
(2005)
Annual Review of Biochemistry
, vol.74
, pp. 595-648
-
-
Nasmyth, K.1
Haering, C.H.2
-
64
-
-
0034705293
-
Structural biology of Rad50 ATPase: ATP-driven conformational control in DNA double-strand break repair and the ABC-ATPase superfamily
-
Hopfner KP, Karcher A, Shin DS et al. Structural biology of Rad50 ATPase: ATP-driven conformational control in DNA double-strand break repair and the ABC-ATPase superfamily. Cell 2000; 101:789-800.
-
(2000)
Cell
, vol.101
, pp. 789-800
-
-
Hopfner, K.P.1
Karcher, A.2
Shin, D.S.3
-
65
-
-
0001607723
-
Distantly related sequences in the alpha- and beta-subunits of ATP synthase, myosin, kinases and other ATP-requiring enzymes and a common nucleotide binding fold
-
Walker JE, Saraste M, Runswick MJ et al. Distantly related sequences in the alpha- and beta-subunits of ATP synthase, myosin, kinases and other ATP-requiring enzymes and a common nucleotide binding fold. EMBO J 1982; 1:945-951.
-
(1982)
EMBO J
, vol.1
, pp. 945-951
-
-
Walker, J.E.1
Saraste, M.2
Runswick, M.J.3
-
66
-
-
0037459376
-
Chromosomal cohesin forms a ring
-
DOI 10.1016/S0092-8674(03)00162-4
-
Gruber S, Haering CH, Nasmyth K. Chromosomal cohesin forms a ring. Cell 2003; 112:765-777. (Pubitemid 36378881)
-
(2003)
Cell
, vol.112
, Issue.6
, pp. 765-777
-
-
Gruber, S.1
Haering, C.H.2
Nasmyth, K.3
-
67
-
-
0036242551
-
Molecular architecture of SMC proteins and the yeast cohesin complex
-
DOI 10.1016/S1097-2765(02)00515-4
-
Haering CH, Lowe J, Hochwagen A et al. Molecular architecture of SMC proteins and the yeast cohesin complex. Mol Cell 2002; 9:773-788. (Pubitemid 34460575)
-
(2002)
Molecular Cell
, vol.9
, Issue.4
, pp. 773-788
-
-
Haering, C.H.1
Lowe, J.2
Hochwagen, A.3
Nasmyth, K.4
-
68
-
-
4644244326
-
Structure and stability of cohesin's Smc1-kleisin interaction
-
DOI 10.1016/j.molcel.2004.08.030, PII S1097276504005179
-
Haering CH, Schoffnegger D, Nishino T et al. Structure and stability of cohesin's Smc1-kleisin interaction. Mol Cell 2004; 15:951-964. (Pubitemid 39277991)
-
(2004)
Molecular Cell
, vol.15
, Issue.6
, pp. 951-964
-
-
Haering, C.H.1
Schoffnegger, D.2
Nishino, T.3
Helmhart, W.4
Nasmyth, K.5
Lowe, J.6
-
69
-
-
33646177549
-
At the heart of the chromosome: SMC proteins in action
-
Hirano T. At the heart of the chromosome: SMC proteins in action. Nat Rev Mol Cell Biol 2006; 7:311-322.
-
(2006)
Nat Rev Mol Cell Biol
, vol.7
, pp. 311-322
-
-
Hirano, T.1
-
70
-
-
22344448705
-
Unzipped and loaded: The role of DNA helicases and RFC clamp-loading complexes in sister chromatid cohesion
-
DOI 10.1083/jcb.200503129
-
Skibbens RV. Unzipped and loaded: The role of DNA helicases and RFC clamp-loading complexes in sister chromatid cohesion. J Cell Biol 2005; 169:841-846. (Pubitemid 41002861)
-
(2005)
Journal of Cell Biology
, vol.169
, Issue.6
, pp. 841-846
-
-
Skibbens, R.V.1
-
71
-
-
19344366459
-
Genome-wide mapping of the cohesin complex in the yeast Saccharomyces cerevisiae
-
Glynn EF, Megee PC, Yu HG et al. Genome-wide mapping of the cohesin complex in the yeast Saccharomyces cerevisiae. PLoS Biol 2004; 2:E259.
-
(2004)
PLoS Biol
, vol.2
-
-
Glynn, E.F.1
Megee, P.C.2
Yu, H.G.3
-
72
-
-
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
-
73
-
-
0036792914
-
Cis-acting DNA from fission yeast centromeres mediates histone H3 methylation and recruitment of silencing factors and cohesin to an ectopic site
-
DOI 10.1016/S0960-9822(02)01177-6, PII S0960982202011776
-
Partridge JF, Scott KS, Bannister AJ et al. cis-acting DNA from fission yeast centromeres mediates histone H3 methylation and recruitment of silencing factors and cohesin to an ectopic site. Curr Biol 2002; 12:1652-1660. (Pubitemid 35161918)
-
(2002)
Current Biology
, vol.12
, Issue.19
, pp. 1652-1660
-
-
Partridge, J.F.1
Scott, K.S.C.2
Bannister, A.J.3
Kouzarides, T.4
Allshire, R.C.5
-
74
-
-
0035930750
-
Requirement of heterochromatin for cohesion at centromeres
-
DOI 10.1126/science.1064027
-
Bernard P, Maure JF, Partridge JF et al. Requirement of heterochromatin for cohesion at centromeres. Science 2001; 294:2539-2542. (Pubitemid 34027292)
-
(2001)
Science
, vol.294
, Issue.5551
, pp. 2539-2542
-
-
Bernard, P.1
Maure, J.-F.2
Partridge, J.F.3
Genier, S.4
Javerzat, J.-P.5
Allshire, R.C.6
-
75
-
-
29144519877
-
Targeting of cohesin by transcriptionally silent chromatin
-
DOI 10.1101/gad.1356305
-
Chang CR, Wu CS, Hom Y et al. Targeting of cohesin by transcriptionally silent chromatin. Genes Dev 2005; 19:3031-3042. (Pubitemid 41798118)
-
(2005)
Genes and Development
, vol.19
, Issue.24
, pp. 3031-3042
-
-
Chang, C.-R.1
Wu, C.-S.2
Hom, Y.3
Gartenberg, M.R.4
-
76
-
-
10944262393
-
DNA damage response pathway uses histone modification to assemble a double-strand break-specific cohesin domain
-
DOI 10.1016/j.molcel.2004.11.027, PII S1097276504007191
-
Unal E, Arbel-Eden A, Sattler U et al. DNA damage response pathway uses histone modification to assemble a double-strand break-specific cohesin domain. Mol Cell 2004; 16:991-1002. (Pubitemid 40018408)
-
(2004)
Molecular Cell
, vol.16
, Issue.6
, pp. 991-1002
-
-
Unal, E.1
Arbel-Eden, A.2
Sattler, U.3
Shroff, R.4
Lichten, M.5
Haber, J.E.6
Koshland, D.7
-
77
-
-
0036209010
-
The dissociation of cohesin from chromosomes in prophase is regulated by polo-like kinase
-
DOI 10.1016/S1097-2765(02)00473-2
-
Sumara I, Vorlaufer E, Stukenberg PT et al. The dissociation of cohesin from chromosomes in prophase is regulated by Polo-like kinase. Mol Cell 2002; 9:515-525. (Pubitemid 34273783)
-
(2002)
Molecular Cell
, vol.9
, Issue.3
, pp. 515-525
-
-
Sumara, I.1
Vorlaufer, E.2
Stukenberg P.Todd3
Kelm, O.4
Redemann, N.5
Nigg, E.A.6
Peters, J.-M.7
-
78
-
-
33751237384
-
Wapl Controls the Dynamic Association of Cohesin with Chromatin
-
DOI 10.1016/j.cell.2006.09.040, PII S0092867406013468
-
Kueng S, Hegemann B, Peters BH et al. Wapl controls the dynamic association of cohesin with chromatin. Cell 2006; 127:955-967. (Pubitemid 44792249)
-
(2006)
Cell
, vol.127
, Issue.5
, pp. 955-967
-
-
Kueng, S.1
Hegemann, B.2
Peters, B.H.3
Lipp, J.J.4
Schleiffer, A.5
Mechtler, K.6
Peters, J.-M.7
-
79
-
-
18044393595
-
Dissociation of cohesin from chromosome arms and loss of arm cohesion during early mitosis depends on phosphorylation of SA2
-
Hauf S, Roitinger E, Koch B et al. Dissociation of cohesin from chromosome arms and loss of arm cohesion during early mitosis depends on phosphorylation of SA2. PLoS Biol 2005; 3:e69.
-
(2005)
PLoS Biol
, vol.3
-
-
Hauf, S.1
Roitinger, E.2
Koch, B.3
-
80
-
-
18044394368
-
Shugoshin prevents dissociation of cohesin from centromeres during mitosis in vertebrate cells
-
McGuinness BE, Hirota T, Kudo NR et al. Shugoshin prevents dissociation of cohesin from centromeres during mitosis in vertebrate cells. PLoS Biol 2005; 3:e86.
-
(2005)
PLoS Biol
, vol.3
-
-
McGuinness, B.E.1
Hirota, T.2
Kudo, N.R.3
-
81
-
-
33947669828
-
Sororin Is Required for Stable Binding of Cohesin to Chromatin and for Sister Chromatid Cohesion in Interphase
-
DOI 10.1016/j.cub.2007.02.029, PII S0960982207010068
-
Schmitz J, Watrin E, Lenart P et al. Sororin is required for stable binding of cohesin to chromatin and for sister chromatid cohesion in interphase. Curr Biol 2007; 17:630-636. (Pubitemid 46497795)
-
(2007)
Current Biology
, vol.17
, Issue.7
, pp. 630-636
-
-
Schmitz, J.1
Watrin, E.2
Lenart, P.3
Mechtler, K.4
Peters, J.-M.5
-
82
-
-
21044435063
-
Functional contribution of Pds5 to cohesin-mediated cohesion in human cells and Xenopus egg extracts
-
DOI 10.1242/jcs.02355
-
Losada A, Yokochi T, Hirano T. Functional contribution of Pds5 to cohesin-mediated cohesion in human cells and Xenopus egg extracts. J Cell Sci 2005; 118:2133-2141. (Pubitemid 40872836)
-
(2005)
Journal of Cell Science
, vol.118
, Issue.10
, pp. 2133-2141
-
-
Losada, A.1
Yokochi, T.2
Hirano, T.3
-
83
-
-
0033168496
-
Sister-chromatid separation at anaphase onset is promoted by cleavage of the cohesin subunit Scc1
-
DOI 10.1038/21831
-
Uhlmann F, Lottspeich F, Nasmyth K. Sister-chromatid separation at anaphase onset is promoted by cleavage of the cohesin subunit Scc1. Nature 1999; 400:37-42. (Pubitemid 29315102)
-
(1999)
Nature
, vol.400
, Issue.6739
, pp. 37-42
-
-
Uhlmann, F.1
Lottspelch, F.2
Nasmyth, K.3
-
84
-
-
0032511150
-
An ESP1/PDS1 complex regulates loss of sister chromatid cohesion at the metaphase to anaphase transition in yeast
-
DOI 10.1016/S0092-8674(00)81211-8
-
Ciosk R, Zachariae W, Michaelis C et al. An ESP1/PDS1 complex regulates loss of sister chromatid cohesion at the metaphase to anaphase transition in yeast. Cell 1998; 93:1067-1076. (Pubitemid 28280799)
-
(1998)
Cell
, vol.93
, Issue.6
, pp. 1067-1076
-
-
Ciosk, R.1
Zachariae, W.2
Michaelis, C.3
Shevchenko, A.4
Mann, M.5
Nasmyth, K.6
-
85
-
-
34250730729
-
Sister chromatid cohesion: The cohesin cleavage model does not ring true
-
DOI 10.1111/j.1365-2443.2007.01093.x
-
Guacci V. Sister chromatid cohesion: The cohesin cleavage model does not ring true. Genes Cells 2007; 12:693-708. (Pubitemid 46952544)
-
(2007)
Genes to Cells
, vol.12
, Issue.6
, pp. 693-708
-
-
Guacci, V.1
-
86
-
-
20644467986
-
Sister chromatid cohesion along arms and at centromeres
-
DOI 10.1016/j.tig.2005.05.009, PII S0168952505001393
-
Watanabe Y. Sister chromatid cohesion along arms and at centromeres. Trends Genet 2005; 21:405-412. (Pubitemid 40835727)
-
(2005)
Trends in Genetics
, vol.21
, Issue.7
, pp. 405-412
-
-
Watanabe, Y.1
-
87
-
-
0035234319
-
The cohesin complex: Sequence homologies, interaction networks and shared motifs
-
RESEARCH0009
-
Jones S, Sgouros J. The cohesin complex: Sequence homologies, interaction networks and shared motifs. Genome Biol 2001; 2:RESEARCH0009.
-
(2001)
Genome Biol
, vol.2
-
-
Jones, S.1
Sgouros, J.2
-
88
-
-
0034312307
-
Characterization of fission yeast cohesin: Essential anaphase proteolysis of Rad21 phosphorylated in the S phase
-
DOI 10.1101/gad.832000
-
Tomonaga T, Nagao K, Kawasaki Y et al. Characterization of fission yeast cohesin: Essential anaphase proteolysis of Rad21 phosphorylated in the S phase. Genes Dev 2000; 14:2757-2770. (Pubitemid 32531202)
-
(2000)
Genes and Development
, vol.14
, Issue.21
, pp. 2757-2770
-
-
Tomonaga, T.1
Nagao, K.2
Kawasaki, Y.3
Furuya, K.4
Murakaini, A.5
Morishita, J.6
Yuasa, T.7
Sutani, T.8
Kearsey, S.E.9
Uhlmann, F.10
Nasmyth, K.11
Yanagida, M.12
-
89
-
-
51149106585
-
Sister chromatid cohesion: A simple concept with a complex reality
-
Onn I, Heidinger-Pauli JM, Guacci V et al. Sister chromatid cohesion: A simple concept with a complex reality. Annu Rev Cell Dev Biol 2008; 24:105-129.
-
(2008)
Annu Rev Cell Dev Biol
, vol.24
, pp. 105-129
-
-
Onn, I.1
Heidinger-Pauli, J.M.2
Guacci, V.3
-
90
-
-
0037194787
-
A chromatin remodelling complex that loads cohesin onto human chromosomes
-
DOI 10.1038/nature01024
-
Hakimi MA, Bochar DA, Schmiesing JA et al. A chromatin remodelling complex that loads cohesin onto human chromosomes. Nature 2002; 418:994-998. (Pubitemid 34976036)
-
(2002)
Nature
, vol.418
, Issue.6901
, pp. 994-998
-
-
Hakimi, M.-A.1
Bochar, D.A.2
Schmiesing, J.A.3
Dong, Y.4
Barak, O.G.5
Spelcher, D.W.6
Yokomori, K.7
Shiekhattar, R.8
-
91
-
-
19344370237
-
The kinetochore is an enhancer of pericentric cohesin binding
-
Weber SA, Gerton JL, Polancic JE et al. The kinetochore is an enhancer of pericentric cohesin binding. PLoS Biol 2004; 2:E260.
-
(2004)
PLoS Biol
, vol.2
-
-
Weber, S.A.1
Gerton, J.L.2
Polancic, J.E.3
-
92
-
-
2942628215
-
Mutations in a partitioning protein and altered chromatin structure at the partitioning locus prevent cohesin recruitment by the Saccharomyces cerevisiae plasmid and cause plasmid missegregation
-
DOI 10.1128/MCB.24.12.5290-5303.2004
-
Yang XM, Mehta S, Uzri D et al. Mutations in a partitioning protein and altered chromatin structure at the partitioning locus prevent cohesin recruitment by the Saccharomyces cerevisiae plasmid and cause plasmid missegregation. Mol Cell Biol 2004; 24:5290-5303. (Pubitemid 38738164)
-
(2004)
Molecular and Cellular Biology
, vol.24
, Issue.12
, pp. 5290-5303
-
-
Yang, X.-M.1
Mehta, S.2
Uzri, D.3
Jayaram, M.4
Velmurugan, S.5
-
93
-
-
33751087042
-
Condensin is required for chromosome arm cohesion during mitosis
-
DOI 10.1101/gad.1468806
-
Lam WW, Peterson EA, Yeung M et al. Condensin is required for chromosome arm cohesion during mitosis. Genes Dev 2006; 20:2973-2984. (Pubitemid 44771732)
-
(2006)
Genes and Development
, vol.20
, Issue.21
, pp. 2973-2984
-
-
Lam, W.W.1
Peterson, E.A.2
Yeung, M.3
Lavoie, B.D.4
-
94
-
-
33846000328
-
The Origin Recognition Complex Functions in Sister-Chromatid Cohesion in Saccharomyces cerevisiae
-
DOI 10.1016/j.cell.2006.11.045, PII S0092867406016096
-
Shimada K, Gasser SM. The origin recognition complex functions in sister-chromatid cohesion in Saccharomyces cerevisiae. Cell 2007; 128:85-99. (Pubitemid 46048893)
-
(2007)
Cell
, vol.128
, Issue.1
, pp. 85-99
-
-
Shimada, K.1
Gasser, S.M.2
-
95
-
-
33846694771
-
Kinetochore Orientation during Meiosis Is Controlled by Aurora B and the Monopolin Complex
-
DOI 10.1016/j.cell.2006.12.040, PII S0092867407001122
-
Monje-Casas F, Prabhu VR, Lee BH et al. Kinetochore orientation during meiosis is controlled by Aurora B and the monopolin complex. Cell 2007; 128:477-490. (Pubitemid 46198898)
-
(2007)
Cell
, vol.128
, Issue.3
, pp. 477-490
-
-
Monje-Casas, F.1
Prabhu, V.R.2
Lee, B.H.3
Boselli, M.4
Amon, A.5
-
96
-
-
54949126326
-
PIASgamma is required for faithful chromosome segregation in human cells
-
Diaz-Martinez LA, Gimenez-Abian JF, Azuma Y et al. PIASgamma is required for faithful chromosome segregation in human cells. PLoS ONE 2006; 1:e53.
-
(2006)
PLoS ONE
, vol.1
-
-
Diaz-Martinez, L.A.1
Gimenez-Abian, J.F.2
Azuma, Y.3
-
97
-
-
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
-
98
-
-
28044453063
-
Effects of sister chromatid cohesion proteins on cut gene expression during wing development in Drosophila
-
DOI 10.1242/dev.02064
-
Dorsett D, Eissenberg JC, Misulovin Z et al. Effects of sister chromatid cohesion proteins on cut gene expression during wing development in Drosophila. Development 2005; 132:4743-4753. (Pubitemid 41685284)
-
(2005)
Development
, vol.132
, Issue.21
, pp. 4743-4753
-
-
Dorsett, D.1
Eissenberg, J.C.2
Misulovin, Z.3
Martens, A.4
Redding, B.5
McKim, K.6
-
99
-
-
1842557791
-
Drosophila Nipped-B Protein Supports Sister Chromatid Cohesion and Opposes the Stromalin/Scc3 Cohesion Factor to Facilitate Long-Range Activation of the cut Gene
-
DOI 10.1128/MCB.24.8.3100-3111.2004
-
Rollins RA, Korom M, Aulner N et al. Drosophila nipped-B protein supports sister chromatid cohesion and opposes the stromalin/Scc3 cohesion factor to facilitate long-range activation of the cut gene. Mol Cell Biol 2004; 24:3100-3111. (Pubitemid 38452056)
-
(2004)
Molecular and Cellular Biology
, vol.24
, Issue.8
, pp. 3100-3111
-
-
Rollins, R.A.1
Korom, M.2
Aulner, N.3
Martens, A.4
Dorsett, D.5
-
100
-
-
4644296379
-
Adherin: Key to the cohesin ring and cornelia de lange syndrome
-
DOI 10.1016/j.cub.2004.09.035, PII S0960982204007183
-
Dorsett D. Adherin: Key to the cohesin ring and cornelia de Lange syndrome. Curr Biol 2004; 14:R834-836. (Pubitemid 39301150)
-
(2004)
Current Biology
, vol.14
, Issue.19
-
-
Dorsett, D.1
-
101
-
-
0345600247
-
A Protein Interaction Map of Drosophila melanogaster
-
DOI 10.1126/science.1090289
-
Giot L, Bader JS, Brouwer C et al. A protein interaction map of Drosophila melanogaster. Science 2003; 302:1727-1736. (Pubitemid 37505730)
-
(2003)
Science
, vol.302
, Issue.5651
, pp. 1727-1736
-
-
Giot, L.1
Bader, J.S.2
Brouwer, C.3
Chaudhuri, A.4
Kuang, B.5
Li, Y.6
Hao, Y.L.7
Ooi, C.E.8
Godwin, B.9
Vitols, E.10
Vijayadamodar, G.11
Pochart, P.12
Machineni, H.13
Welsh, M.14
Kong, Y.15
Zerhusen, B.16
Malcolm, R.17
Varrone, Z.18
Collis, A.19
Minto, M.20
Burgess, S.21
McDaniel, L.22
Stimpson, E.23
Spriggs, F.24
Williams, J.25
Neurath, K.26
Ioime, N.27
Agee, M.28
Voss, E.29
Furtak, K.30
Renzulli, R.31
Aanensen, N.32
Carrolla, S.33
Bickelhaupt, E.34
Lazovatsky, Y.35
DaSilva, A.36
Zhong, J.37
Stanyon, C.A.38
Finley Jr., R.L.39
White, K.P.40
Braverman, M.41
Jarvie, T.42
Gold, S.43
Leach, M.44
Knight, J.45
Shimkets, R.A.46
McKenna, M.P.47
Chant, J.48
Rothberg, J.M.49
more..
-
102
-
-
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:e242.
-
(2006)
PLoS Biol
, vol.4
-
-
Seitan, V.C.1
Banks, P.2
Laval, S.3
-
103
-
-
38849130750
-
PiggyBac-Based Mosaic Screen Identifies a Postmitotic Function for Cohesin in Regulating Developmental Axon Pruning
-
DOI 10.1016/j.devcel.2007.11.001, PII S1534580707004194
-
Schuldiner O, Berdnik D, Levy JM et al. piggyBac-based mosaic screen identifies a postmitotic function for cohesin in regulating developmental axon pruning. Dev Cell 2008; 14:227-238. (Pubitemid 351189171)
-
(2008)
Developmental Cell
, vol.14
, Issue.2
, pp. 227-238
-
-
Schuldiner, O.1
Berdnik, D.2
Levy, J.M.3
Wu, J.S.4
Luginbuhl, D.5
Gontang, A.C.6
Luo, L.7
-
104
-
-
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
-
105
-
-
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
-
106
-
-
1342325423
-
Evidence of a Transcriptional Co-activator Function of Cohesin STAG/SA/Scc3
-
DOI 10.1074/jbc.M307663200
-
Lara-Pezzi E, Pezzi N, Prieto I et al. Evidence of a transcriptional co-activator function of cohesin STAG/SA/Scc3. J Biol Chem 2004; 279:6553-6559. (Pubitemid 38248791)
-
(2004)
Journal of Biological Chemistry
, vol.279
, Issue.8
, pp. 6553-6559
-
-
Lara-Pezzi, E.1
Pezzi, N.2
Prieto, I.3
Barthelemy, I.4
Carreiro, C.5
Martinez, A.6
Maldonado-Rodriguez, A.7
Lopez-Cabrera, M.8
Barbero, J.L.9
-
107
-
-
34848911616
-
Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome
-
DOI 10.1242/dev.005884
-
Zhang B, Jain S, Song H et al. Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome. Development 2007; 134:3191-3201. (Pubitemid 47506157)
-
(2007)
Development
, vol.134
, Issue.17
, pp. 3191-3201
-
-
Zhang, B.1
Jain, S.2
Song, H.3
Fu, M.4
Heuckeroth, R.O.5
Erlich, J.M.6
Jay, P.Y.7
Milbrandt, J.8
-
108
-
-
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
-
109
-
-
38849121606
-
Cohesins functionally associate with CTCF on mammalian chromosome arms
-
Parelho V, Hadjur S, Spivakov M et al. Cohesins functionally associate with CTCF on mammalian chromosome arms. Cell 2008; 132:422-433.
-
(2008)
Cell
, vol.132
, pp. 422-433
-
-
Parelho, V.1
Hadjur, S.2
Spivakov, M.3
-
110
-
-
39449111307
-
Cohesins localize with CTCF at the KSHV latency control region and at cellular c-myc and H19/Igf2 insulators
-
DOI 10.1038/emboj.2008.1, PII EMBOJ20081
-
Stedman W, Kang H, Lin S et al. Cohesins localize with CTCF at the KSHV latency control region and at cellular c-myc and H19/Igf2 insulators. EMBO J 2008; 27:654-666. (Pubitemid 351273124)
-
(2008)
EMBO Journal
, vol.27
, Issue.4
, pp. 654-666
-
-
Stedman, W.1
Kang, H.2
Lin, S.3
Kissil, J.L.4
Bartolomei, M.S.5
Lieberman, P.M.6
-
111
-
-
0842310349
-
CTCF Tethers an Insulator to Subnuclear Sites, Suggesting Shared Insulator Mechanisms across Species
-
DOI 10.1016/S1097-2765(04)00029-2
-
Yusufzai TM, Tagami H, Nakatani Y et al. CTCF tethers an insulator to subnuclear sites, suggesting shared insulator mechanisms across species. Mol Cell 2004; 13:291-298. (Pubitemid 38183274)
-
(2004)
Molecular Cell
, vol.13
, Issue.2
, pp. 291-298
-
-
Yusufzai, T.M.1
Tagami, H.2
Nakatani, Y.3
Felsenfeld, G.4
-
112
-
-
38849103926
-
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 2007.
-
(2007)
Chromosoma
-
-
Misulovin, Z.1
Schwartz, Y.B.2
Li, X.Y.3
-
113
-
-
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
-
114
-
-
38349164450
-
Functional links between Drosophila Nipped-B and cohesin in somatic and meiotic cells
-
Gause M, Webber HA, Misulovin Z et al. Functional links between Drosophila Nipped-B and cohesin in somatic and meiotic cells. Chromosoma 2008; 117:51-66.
-
(2008)
Chromosoma
, vol.117
, pp. 51-66
-
-
Gause, M.1
Webber, H.A.2
Misulovin, Z.3
-
115
-
-
58149158042
-
On the molecular etiology of Cornelia de Lange syndrome
-
Dorsett D, Krantz ID. On the molecular etiology of Cornelia de Lange syndrome. Ann N Y Acad Sci 2009; 1151:22-37.
-
(2009)
Ann N Y Acad Sci
, vol.1151
, pp. 22-37
-
-
Dorsett, D.1
Krantz, I.D.2
-
116
-
-
58749104967
-
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA
-
Revenkova E, Focarelli ML, Susani L et al. Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. Hum Mol Genet 2009; 18:418-427.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 418-427
-
-
Revenkova, E.1
Focarelli, M.L.2
Susani, L.3
-
117
-
-
0037202382
-
Structure, function and DNA composition of Saccharomyces cerevisiae chromatin loops
-
DOI 10.1016/S0378-1119(02)00848-X, PII S037811190200848X
-
Filipski J, Mucha M. Structure, function and DNA composition of Saccharomyces cerevisiae chromatin loops. Gene 2002; 300:63-68. (Pubitemid 35441161)
-
(2002)
Gene
, vol.300
, Issue.1-2
, pp. 63-68
-
-
Filipski, J.1
Mucha, M.2
-
118
-
-
2342666131
-
SIR2 regulates recombination between different rDNA repeats, but not recombination within individual rRNA genes in yeast
-
DOI 10.1016/S0092-8674(04)00414-3, PII S0092867404004143
-
Kobayashi T, Horiuchi T, Tongaonkar P et al. SIR2 regulates recombination between different rDNA repeats, but not recombination within individual rRNA genes in yeast. Cell 2004; 117:441-453. (Pubitemid 38610230)
-
(2004)
Cell
, vol.117
, Issue.4
, pp. 441-453
-
-
Kobayashi, T.1
Horiuchi, T.2
Tongaonkar, P.3
Vu, L.4
Nomura, M.5
-
119
-
-
18844432121
-
The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain
-
DOI 10.1016/j.bbrc.2005.04.016, PII S0006291X0500776X
-
Lechner MS, Schultz DC, Negorev D et al. The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain. Biochem Biophys Res Commun 2005; 331:929-937. (Pubitemid 40692450)
-
(2005)
Biochemical and Biophysical Research Communications
, vol.331
, Issue.4
, pp. 929-937
-
-
Lechner, M.S.1
Schultz, D.C.2
Negorev, D.3
Maul, G.G.4
Rauscher III, F.J.5
-
120
-
-
20944444999
-
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion
-
DOI 10.1038/ng1548
-
Vega H, Waisfisz Q, Gordillo M et al. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nat Genet 2005; 37:468-470. (Pubitemid 40617273)
-
(2005)
Nature Genetics
, vol.37
, Issue.5
, pp. 468-470
-
-
Vega, H.1
Waisfisz, Q.2
Gordillo, M.3
Sakai, N.4
Yanagihara, I.5
Yamada, M.6
Van Gosliga, D.7
Kayserili, H.8
Xu, C.9
Ozono, K.10
Jabs, E.W.11
Inui, K.12
Joenje, H.13
-
121
-
-
0032939991
-
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
-
DOI 10.1038/8788
-
Kitao S, Shimamoto A, Goto M et al. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet 1999; 22:82-84. (Pubitemid 29214810)
-
(1999)
Nature Genetics
, vol.22
, Issue.1
, pp. 82-84
-
-
Kitao, S.1
Shimamoto, A.2
Goto, M.3
Miller, R.W.4
Smithson, W.A.5
Lindor, N.M.6
Furuichi, Y.7
-
122
-
-
2442683158
-
Expression of a novel human gene, human wings apart-like (hWAPL), is associated with cervical carcinogenesis and tumor progression
-
DOI 10.1158/0008-5472.CAN-03-3822
-
Oikawa K, Ohbayashi T, Kiyono T et al. Expression of a novel human gene, human wings apart-like (hWAPL), is associated with cervical carcinogenesis and tumor progression. Cancer Res 2004; 64:3545-3549. (Pubitemid 38657930)
-
(2004)
Cancer Research
, vol.64
, Issue.10
, pp. 3545-3549
-
-
Oikawa, K.1
Ohbayashi, T.2
Kiyono, T.3
Nishi, H.4
Isaka, K.5
Umezawa, A.6
Kuroda, M.7
Mukai, K.8
-
123
-
-
40849149557
-
Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers
-
DOI 10.1073/pnas.0712384105
-
Barber TD, McManus K, Yuen KW et al. Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers. Proc Natl Acad Sci USA 2008; 105:3443-3448. (Pubitemid 351723572)
-
(2008)
Proceedings of the National Academy of Sciences of the United States of America
, vol.105
, Issue.9
, pp. 3443-3448
-
-
Barber, T.D.1
McManus, K.2
Yuen, K.W.Y.3
Reis, M.4
Parmigiani, G.5
Shen, D.6
Barrett, I.7
Nouhi, Y.8
Spencer, F.9
Markowitz, S.10
Velculescu, V.E.11
Kinzler, K.W.12
Vogelstein, B.13
Lengauer, C.14
Hieter, P.15
|