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CdLS Research Articles

CdLS Research Articles

The CdLS Foundation provides information on a range of research articles, most of which are accessible through PubMed, an online portal of research publications.

Articles related to CdLS go back to the 1980s and are divided by topic. To access a summary of an article, go to PubMed, then type the PMID code (indicated below after each article) in the Search for function at the top of the page.

Anesthesia

  • August DA, Sorhabi S. 2009. Is a difficult airway predictable in Cornelia de Lange syndrome? Paediatr Anaesth 19:707-9. PMID: 19638123

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Behavior & Communication

  • Arron K, Oliver C, Hall S, Sloneem J, Forman D, McClintock K. 2006. Effects of social context on social interaction and self-injurious behavior in Cornelia de Lange syndrome. Am J Ment Retardation 111:184-92. Erratum in: Am J Ment Retard. 2006 111:298. PMID: 16597185
  • Goodban MT. 1993. Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome. Am J Med Genet 47:1059-63. PMID: 8291523
  • Hyman P, Oliver C. 2001. Causal explanations, concern and optimism regarding self-injurious behaviour displayed by individuals with Cornelia de Lange syndrome: the parents' perspective. J Intellect Disabil Res 45:326-34. PMID: 11489054
  • Hyman P, Oliver C, Hall S. 2002. Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome. Am J Ment Retardation 107:146-54. PMID: 11853532
  • Sarimski K. 2002. Analysis of intentional communication in severely handicapped children with Cornelia-de-Lange syndrome. J Commun Disord 35:483-500. PMID: 12443049
  • Basile E, Villa L, Selicorni A, Molteni M. 2007. The behavioural phenotype of Cornelia de Lange Syndrome: a study of 56 individuals. J Intellect Disabil Res 51:671-81. PMID: 17845236
  • Collis L, Moss J, Jutley J, Cornish K, Oliver C. 2008. Facial expression of affect in children with Cornelia de Lange syndrome. J Intellect Disabil Res 52:207-15. PMID: 18261020
  • Hall SS, Arron K, Sloneem J, Oliver C. 2008. Health and sleep problems in Cornelia de Lange Syndrome: a case control study. J Intellect Disabil Res 52:458-68. PMID: 18341525
  • Oliver C, Sloneem J, Hall S, Arron K. 2009. Self-injurious behaviour in Cornelia de Lange syndrome: 1. Prevalence and phenomenology. J Intellect Disabil Res 53:575-89. PMID: 19522788
  • Oliver C, Arron K, Sloneem J, Hall S. 2008. Behavioural phenotype of Cornelia de Lange syndrome: case-control study. Br J Psychiatry 193:466-70. PMID: 19043149
  • Sloneem J, Arron K, Hall SS, Oliver C. 2009. Self-injurious behaviour in Cornelia de Lange syndrome: 2. Association with environmental events. J Intellect Disabil Res 53:590-603. PMID: 19533839
  • Richards C, Moss J, O'Farrell L, Kaur G, Oliver C. 2009. Social anxiety in Cornelia de Lange syndrome. J Autism Dev Disord 39:1155-62. PMID: 19330433
  • Richman D, Belmont J, Kim M, Slavin C, Hayner A. 2009. Parenting Stress in Families of Children with Cornelia de Lange Syndrome and Down Syndrome. J Dev Phys Disabil, DOI 10.1007/s10882-009-9156-6.

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Clinical Features

  • Hawley PP, Jackson LG, Kurnit DM. 1985. Sixty-four patients with Brachmann-de Lange syndrome: a survey. Am J Med Genet 20:453-9. PMID: 3993674
  • Opitz JM. 1985. The Brachmann-de Lange syndrome. Am J Med Genet 22:89-102. PMID: 3901753
  • Ireland M, Donnai D, Burn J. 1993. Brachmann–de Lange syndrome. Delineation of the clinical phenotype. Am J Med Genet 47:959–63. PMID: 8291539
  • Jackson L, Kline AD, Barr MA, Koch S.1993. de Lange syndrome: a clinical review of 310 individuals. Am J Med Genet 47:940–46. PMID: 8291537
  • Kline AD, Barr M, Jackson LG. 1993. Growth manifestations in Brachmann-de Lange syndrome. Am J Med Genet 47: 1042-49. PMID: 8291521
  • Kline AD, Stanley C, Belevich J, Brodsky K, Barr M, Jackson LG. 1993. Developmental data on individuals with Brachmann-de Lange syndrome. Am J Med Genet 47: 1053-58. PMID: 7507292
  • van Allen MI, Filippi G, Siegel-Bartelt J, Yong SL, McGillivray B, Zuker RM, Smith CR, Magee JF, Ritchie S, Toi A, et al. 1993. Clinical variability within Brachmann-de Lange syndrome: a proposed classification system. Am J Med Genet 47:947-58. PMID: 8291538
  • Wygnanski-Jaffe T, Shin J, Perruzza E, Abdolell M, Jackson LG, Levin AV. 2005. Ophthalmologic findings in the Cornelia de Lange Syndrome. J AAPOS 9:407-15. PMID: 16213388
  • Kline AD, Grados M, Sponseller P, Levy HP, Blagowidow N, Schoedel C, Rampolla J, Clemens DK, Krantz I, Kimball A, Pichard C, Tuchman D. 2007. Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet 45C:248-60. PMID: 17640042
  • Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, FitzPatrick DR, Levin AV, Selicorni A. 2007. Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A 143A:1287-96. PMID: 17640042
  • Barisic I, Tokic V, Loane M, Bianchi F, Calzolari E, Garne E, Wellesley D, Dolk H; EUROCAT Working Group. 2008. Descriptive epidemiology of Cornelia de Lange syndrome in Europe. Am J Med Genet A 146A:51-9. PMID: 18074387
  • Hunter AG, Collins JS, Deardorff MA, Krantz ID. 2009. Detailed assessment of the ear in Cornelia de Lange syndrome: comparison with a control sample using the new dysmorphology guidelines. Am J Med Genet A 149A:2181-92. PMID: 19764039
  • Castronovo P, Gervasini C, Cereda A, Masciadri M, Milani D, Russo S, Selicorni A, Larizza L. 2009. Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome. Chromosome Res 17:763-71. PMID: 19690971

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Genes


NIPBL

  • Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG. 2004. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 36:631-5. PMID: 15146186
  • Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T. 2004. 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 36:636-41. PMID: 15146185
  • Borck G, Redon R, Sanlaville D, Rio M, Prieur M, Lyonnet S, Vekemans M, Carter NP, Munnich A, Colleaux L, Cormier-Daire V. 2004. NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome. J Med Genet 41:e128. PMID: 15591270
  • Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li HH, Devoto M, Jackson LG, Krantz ID. 2004. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet 75:610-23. PMID: 15318302
  • Miyake N, Visser R, Kinoshita A, Yoshiura K, Niikawa N, Kondoh T, Matsumoto N, Harada N, Okamoto N, Sonoda T, Naritomi K, Kaname T, Chinen Y, Tonoki H, Kurosawa K. 2005. Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome. Am J Med Genet A 135:103–5. PMID: 15723327
  • Bhuiyan ZA, Klein M, Hammond P, van Haeringen A, Mannens MM, Van Berckelaer-Onnes I, Hennekam RC. 2006. Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience. J Med Genet 43:568-75. PMID: 16236812
  • Borck G, Zarhrate M, Cluzeau C, Bal E, Bonnefont JP, Munnich A, Cormier-Daire V, Colleaux L. 2006. Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene. Hum Mutat 27:731-5. PMID: 16799922
  • Yan J, Saifi GM, Wierzba TH, Withers M, Bien-Willner GA, Limon J, Stankiewicz P, Lupski JR, Wierzba J. 2006. Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome. Am J Med Genet A 140:1531-41. PMID: 16770807

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SMC1A & SMC3

  • Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L. 2006. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 38:528-30. PMID: 16604071
  • Borck G, Zarhrate M, Bonnefont JP, Munnich A, Cormier-Daire V, Colleaux L. 2007. Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. Hum Mutat 28:205-6. PMID: 17221863
  • Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. 2007. 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 80:485-94. PMID: 17273969

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Unknown Genomic Imbalance

  • Schoumans J, Wincent J, Barbaro M, Djureinovic T, Maguire P, Forsberg L, Staaf J, Thuresson AC, Borg A, Nordgren A, Malm G, Anderlid BM. 2007. Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients. Eur J Hum Genet 15:143-9. PMID: 17106445
  • Gervasini C, Pfundt R, Castronovo P, Russo S, Roversi G, Masciadri M, Milani D, Zampino G, Selicorni A, Schoenmakers EF, Larizza L. 2008. Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes. Clin Genet 74:531-8. PMID: 18798846

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Cohesin in Human Gene Expression & DNA Repair

  • Vrouwe MG, Elghalbzouri-Maghrani E, Meijers M, Schouten P, Godthelp BC, Bhuiyan ZA, Redeker EJ, Mannens MM, Mullenders LH, Pastink A, Darroudi F. 2007. Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair. Hum Mol Genet 16:1478–87. PMID: 17468178
  • Wendt KS, Yoshida K, Itoh T, Bando M, Koch B, Schirghuber E, Tsutsumi S, Nagae G, Ishihara K, Mishiro T, Yahata K, Imamoto F, Aburatani H, Nakao M, Imamoto N, Maeshima K, Shirahige K, Peters JM. 2008. Cohesin mediates transcriptional insulation by CCCTC-binding factor. Nature 451:796-801. PMID: 18235444
  • Liu J, Zhang Z, Bando M, Itoh T, Deardorff MA, Clark D, Kaur M, Tandy S, Kondoh T, Rappaport E, Spinner NB, Vega H, Jackson LG, Shirahige K, Krantz ID. 2009. Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol 7:e1000119. PMID: 19468298
  • Revenkova E, Focarelli ML, Susani L, Paulis M, Bassi MT, Mannini L, Frattini A, Delia D, Krantz I, Vezzoni P, Jessberger R, Musio A. 2009. Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. Hum Mol Genet 18:418-27. PMID: 18996922
  • Liu J, Feldman R, Zhang Z, Deardorff MA, Haverfield EV, Kaur M, Li JR, Clark D, Kline AD, Waggoner DJ, Das S, Jackson LG, Krantz ID. 2009. SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Hum Mutat. 2009 Jul 15. [Epub ahead of print] PMID: 19701948
  • Liu J, Feldman R, Zhang Z, Deardorff MA, Haverfield EV, Kaur M, Li JR, Clark D, Kline AD, Waggoner DJ, Das S, Jackson LG, Krantz ID. 2009. SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Hum Mutat. 2009 Jul 15. [Epub ahead of print] PMID: 19701948
  • Gard S, Light W, Xiong B, Bose T, McNairn AJ, Harris B, Fleharty B, Seidel C, Brickner JH, Gerton JL. Cohesinopathy mutations disrupt the subnuclear organization of chromatin. J Cell Biol. 2009 Nov 16;187(4):455-62. PMID: 19948494.
    Free news summary: http://jcb.rupress.org/cgi/content/full/187/4/444.

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Model Organisms (Animals)

Drosophila (fruit fly)

  • Rollins RA, Morcillo P, Dorsett D. 1999. Nipped-B, a Drosophila homologue of chromosomal adherins, participates in activation by remote enhancers in the cut and Ultrabithorax genes. Genetics 152:577-93. PMID: 10353901
  • Rollins RA, Korom M, Aulner N, Martens A, Dorsett D. 2004. 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 24:3100-11. PMID: 15060134
  • Dorsett D, Eissenberg JC, Misulovin Z, Martens A, Redding B, McKim K. 2005. Effects of sister chromatid cohesion proteins on cut gene expression during wing development in Drosophila. Development 132:4743-53. PMID: 16207752
  • Hallson G, Syrzycka M, Beck SA, Kennison JA, Dorsett D, Page SL, Hunter SM, Keall R, Warren WD, Brock HW, Sinclair DA, Honda BM. 2008. The Drosophila cohesin subunit Rad21 is a trithorax group (trxG) protein. Proc Natl Acad Sci U S A 105:12405-10. PMID: 18713858
  • Misulovin Z, Schwartz YB, Li XY, Kahn TG, Gause M, MacArthur S, Fay JC, Eisen MB, Pirrotta V, Biggin MD, Dorsett D. 2008. Association of cohesin and Nipped-B with transcriptionally active regions of the Drosophila melanogaster genome. Chromosoma 117:89-102. PMID: 17965872
  • Pauli A, Althoff F, Oliveira RA, Heidmann S, Schuldiner O, Lehner CF, Dickson BJ, Nasmyth K. 2008. Cell-type-specific TEV protease cleavage reveals cohesin functions in Drosophila neurons. Dev Cell 14:239-51. PMID: 18267092
  • Schuldiner O, Berdnik D, Levy JM, Wu JS, Luginbuhl D, Gontang AC, Luo L. 2008. piggyBac-based mosaic screen identifies a postmitotic function for cohesin in regulating developmental axon pruning. Dev Cell 14:227-38. PMID: 18267091
  • Schaaf CA, Misulovin Z, Sahota G, Siddiqui AM, Schwartz YB, Kahn TG, Pirrotta V, Gause M, Dorsett D. 2009. Regulation of the Drosophila Enhancer of split and invected-engrailed gene complexes by sister chromatid cohesion proteins. PLoS One 4:e6202. PMID: 19587787

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C. Elegans & Xenopus (worm and frog)

  • Seitan VC, Banks P, Laval S, Majid NA, Dorsett D, Rana A, Smith J, Bateman A, Krpic S, Hostert A, Rollins RA, Erdjument-Bromage H, Tempst P, Benard CY, Hekimi S, Newbury SF, Strachan T. 2006. Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance. PLoS Biol 4:e242. PMID: 16802858

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Zebrafish

  • Horsfield JA, Anagnostou SH, Hu JK, Cho KH, Geisler R, Lieschke G, Crosier KE, Crosier PS. 2007. Cohesin-dependent regulation of Runx genes. Development 134:2639-49. PMID: 17567667
  • Mönnich M, Banks S, Eccles M, Dickinson E, Horsfield J. 2009. Expression of cohesin and condensin genes during zebrafish development supports a non-proliferative role for cohesin. Gene Expr Patterns. Aug 31. [Epub ahead of print] PMID: 19723591
  • Muto A, Calof AL, Lander AD, and Schilling, T.F. (2011) Multifactoral origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome. PLoS Biology Oct;9(10):e1001181. Epub 2011 Oct 25. (comment: PLoS Biol. 2011 Oct;9(10):e1001180.  PMCID: PMC3201921

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Mouse

  • Zhang B, Jain S, Song H, Fu M, Heuckeroth RO, Erlich JM, Jay PY, Milbrandt J. 2007. Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome. Development 134:3191-201. PMID: 17652350
  • Parelho V, Hadjur S, Spivakov M, Leleu M, Sauer S, Gregson HC, Jarmuz A, Canzonetta C, Webster Z, Nesterova T, Cobb BS, Yokomori K, Dillon N, Aragon L, Fisher AG, Merkenschlager M. 2008. Cohesins functionally associate with CTCF on mammalian chromosome arms. Cell 132:422-33. PMID: 18237772
  • Zhang B, Chang J, Fu M, Huang J, Kashyap R, Salavaggione E, Jain S, Shashikant K, Deardorff MA, Uzielli ML, Dorsett D, Beebe DC, Jay PY, Heuckeroth RO, Krantz I, Milbrandt J. 2009. Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies. PLoS ONE 4:e5232. PMID: 19412548
  • Kawauchi S, Calof AL, Santos R, Lopez-Burks ME, Young CM, Hoang MP, Chua A, Lao T, Lechner MS, Daniel JA, Nussenzweig A, Kitzes L, Yokomori K, Hallgrimsson B, Lander AD. 2009. Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome. PLoS Genet 5:e1000650. PMID: 19763162
  • Chien R, Zeng W, Kawauchi S, Santos R, Gregson HC, Schmiesing JA, Newkirk D, Kong X, Ball AR J, Calof AL, Lander AD, Groudine M & Yokomori K (2011) Cohesin mediates chromatin interactions that regulate mammalian b-globin expression.J. Biol. Chem. 286:DOI 10.1074. PMCID: PMC3093862

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Prenatal

  • Westergaard JG, Chemnitz J, Teisner B, Poulsen HK, Ipsen L, Beck B, Grudzinskas JG. Pregnancy-associated plasma protein A: a possible marker in the classification and prenatal diagnosis of Cornelia de Lange syndrome. Prenat Diagn 3:225-32. PMID: 6194522
  • Bruner JP, Hsia YE. 1990. Prenatal findings in Brachmann-de Lange syndrome. Obstet Gynecol 76:966-8. PMID: 1699187
  • Drolshagen LF, Durmon G, Berumen M, Burks DD. 1992. Prenatal ultrasonographic appearance of "Cornelia de Lange" syndrome. J Clin Ultrasound 20:470-4. PMID: 1324952
  • Kliewer MA, Kahler SG, Hertzberg BS, Bowie JD. 1993. Fetal biometry in the Brachmann-de Lange syndrome. Am J Med Genet 47:1035-41. PMID: 8291520
  • Manouvrier S, Espinasse M, Vaast P, Boute O, Farre I, Dupont F, Puech F, Gosselin B, Farriaux JP. 1996. Brachmann-de Lange syndrome: pre- and postnatal findings. Am J Med Genet 62:268-73.Ackerman J, Gilbert-Barness E. 1997, Brachmann-de Lange syndrome. Am J Med Genet 68:367-8. PMID: 8882785
  • Ranzini AC, Day-Salvatore D, Farren-Chavez D, McLean DA, Greco R. 1997. Prenatal diagnosis of de Lange syndrome. J Ultrasound Med 16:755-8. PMID: 9360240
  • Enns GM, Cox VA, Goldstein RB, Gibbs DL, Harrison MR, Golabi M. 1998. Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review. Am J Med Genet 79:215-25. PMID: 9788565
  • Aitken DA, Ireland M, Berry E, Crossley JA, Macri JN, Burn J, Connor JM. 1999. Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies. Prenat Diagn 19:706-10. PMID: 10451512
  • Boog G, Sagot F, Winer N, David A, Nomballais MF. 1999. Brachmann-de Lange syndrome: a cause of early symmetric fetal growth delay. Eur J Obstet Gynecol Reprod Biol 85:173-7. PMID: 10584631
  • Sekimoto H, Osada H, Kimura H, Kamiyama M, Arai K, Sekiya S. 2000. Prenatal findings in Brachmann-de Lange syndrome. Arch Gynecol Obstet 263:182-4. PMID: 10834327
  • Urban M, Hartung J. 2001. Ultrasonographic and clinical appearance of a 22-week-old fetus with Brachmann-de Lange syndrome. Am J Med Genet 102:73-5. PMID: 11471176
  • Huang WH, Porto M. 2002. Abnormal first-trimester fetal nuchal translucency and Cornelia De Lange syndrome. Obstet Gynecol 99:956-8. PMID: 11975974
  • Lee W, McNie B, Chaiworapongsa T, Conoscenti G, Kalache KD, Vettraino IM, Romero R, Comstock CH. 2002. Three-dimensional ultrasonographic presentation of micrognathia. J Ultrasound Med 21:775-81. PMID: 12099566
  • Marino T, Wheeler PG, Simpson LL, Craigo SD, Bianchi DW. 2002. Fetal diaphragmatic rnia and upper limb anomalies suggest Brachmann-de Lange syndrome. Prenat Diagn 22:144-7. PMID: 11857622
  • Arbuzova S, Nikolenko M, Krantz D, Hallahan T, Macri J. 2003. Low first-trimester pregnancy-associated plasma protein-A and Cornelia de Lange syndrome. Prenat Diagn 23:864. PMID: 14558036
  • Le Vaillant C, Quere MP, David A, Berlivet M, Boog G. 2004. Prenatal diagnosis of a 'minor' form of Brachmann-de Lange syndrome by three-dimensional sonography and three-dimensional computed tomography. Fetal Diagn Ther. 19:155-9. PMID: 14764961
  • Lalatta F, Russo S, Gentilin B, Spaccini L, Boschetto C, Cavalleri F, Masciadri M, Gervasini C, Bentivegna A, Castronovo P, Larizza L. 2007. Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL. Genet Med 9:188-94. PMID: 17413424
  • Chong K, Keating S, Hurst S, Summers A, Berger H, Seaward G, Martin N, Friedberg T, Chitayat D. 2009. Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings. Prenat Diagn 29:489-94. PMID: 19242925
  • Sepulveda W, Wong AE, Dezerega V. 2009. Brachmann-de Lange Syndrome: prenatal diagnosis with 2- and 3-dimensional sonography. J Ultrasound Med 28:401-4. PMID: 19244081

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Reviews

  • Dorsett D. 2004. Adherin: key to the cohesin ring and Cornelia de Lange syndrome. Curr Biol 14:R834-6. PMID: 15458660
  • Strachan T. 2005. Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation. Curr Opin Genet Dev 15:258-64. PMID: 15917200
  • Dorsett D. 2007. Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes. Chromosoma 116:1-13. PMID: 16819604
  • Dorsett D. 2008. Running rings around chromosomes to trim axons and target dendrites. Dev Cell 14:156-8. PMID: 18267084
  • Gause M, Schaaf CA, Dorsett D. 2008. Cohesin and CTCF: cooperating to control chromosome conformation? Bioessays 30:715-8. PMID: 18623068
  • Liu J, Krantz ID. 2008. Cohesin and human disease. Annu Rev Genomics Hum Genet 9:303-20. PMID: 18767966
  • McNairn AJ, Gerton JL. 2008. Cohesinopathies: One ring, many obligations. Mutat Res 647:103-11. PMID: 18786550
  • Onn I, Heidinger-Pauli JM, Guacci V, Unal E, Koshland DE. 2008. Sister chromatid cohesion: a simple concept with a complex reality. Annu Rev Cell Dev Biol 24:105-29. PMID: 18616427
  • Peters JM, Tedeschi A, Schmitz J. 2008. The cohesin complex and its roles in chromosome biology. Genes Dev 22:3089-114. PMID: 19056890
  • Dorsett D, Krantz ID. 2009. On the molecular etiology of Cornelia de Lange syndrome. Ann N Y Acad Sci 1151:22-37. PMID: 19154515
  • Dorsett D. 2009. Cohesin, gene expression and development: lessons from Drosophila. Chromosome Res 17:185-200. PMID: 19308700
  • Wendt KS, Peters JM. 2009. How cohesin and CTCF cooperate in regulating gene expression. Chromosome Res 17:201-14. PMID: 19308701
  • Mannini L, Liu J, Krantz ID, Musio A. 2009. Spectrum and consequences of SMC1A mutations: The unexpected involvement of a core component of cohesin in human disease. Hum Mutat. Sep 23. [Epub ahead of print] PMID: 19842212
  • Liu J, Krantz ID. 2009. Cornelia de Lange syndrome, cohesin, and beyond. Clin Genet 76:303-14. PMID: 19793304

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Scientific Symposia

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