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1988 2
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Page 1
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Piché J, Van Vliet PP, Pucéat M, Andelfinger G. Piché J, et al. Cell Cycle. 2019 Nov;18(21):2828-2848. doi: 10.1080/15384101.2019.1658476. Epub 2019 Sep 13. Cell Cycle. 2019. PMID: 31516082 Free PMC article. Review.
Abbreviations: AD: Alzheimer Disease; AFF4: AF4/FMR2 Family Member 4; ANKRD11: Ankyrin Repeat Domain 11; APC: Anaphase Promoter Complex; ASD: Atrial Septal Defect; ATRX: ATRX Chromatin Remodeler; ATRX: Alpha Thalassemia X-linked intellectual disability syndrome; BIRC5: Baculovira …
Abbreviations: AD: Alzheimer Disease; AFF4: AF4/FMR2 Family Member 4; ANKRD11: Ankyrin Repeat Domain 11; APC: Anaphase Promoter Complex; ASD …
How many roads lead to cohesinopathies?
Banerji R, Skibbens RV, Iovine MK. Banerji R, et al. Dev Dyn. 2017 Nov;246(11):881-888. doi: 10.1002/dvdy.24510. Epub 2017 May 22. Dev Dyn. 2017. PMID: 28422453 Free article. Review.
Genetic mapping studies reveal that mutations in cohesion pathways are responsible for multispectrum developmental abnormalities termed cohesinopathies. These include Roberts syndrome (RBS), Cornelia de Lange Syndrome (CdLS), and Warsaw Breakage Syndrome (WABS). ...
Genetic mapping studies reveal that mutations in cohesion pathways are responsible for multispectrum developmental abnormalities termed cohe …
Roberts-SC phocomelia syndrome.
Maheshwari A, Kumar P, Dutta S, Narang A. Maheshwari A, et al. Indian J Pediatr. 2001 Jun;68(6):557-9. doi: 10.1007/BF02723253. Indian J Pediatr. 2001. PMID: 11450388 Review.
Cytogenetic studies did not reveal any abnormality. The phenotypic features match those described in the Roberts-SC phocomelia syndrome. A literature review revealed that 50% of these patients have chromosomal defects and antenatal detection is possibl …
Cytogenetic studies did not reveal any abnormality. The phenotypic features match those described in the Roberts-SC phocome …
Cohesinopathies of a feather flock together.
Skibbens RV, Colquhoun JM, Green MJ, Molnar CA, Sin DN, Sullivan BJ, Tanzosh EE. Skibbens RV, et al. PLoS Genet. 2013;9(12):e1004036. doi: 10.1371/journal.pgen.1004036. Epub 2013 Dec 19. PLoS Genet. 2013. PMID: 24367282 Free PMC article. Review.
Roberts Syndrome (RBS) and Cornelia de Lange Syndrome (CdLS) are severe developmental maladies that present with nearly an identical suite of multi-spectrum birth defects. ...
Roberts Syndrome (RBS) and Cornelia de Lange Syndrome (CdLS) are severe developmental maladies that present with nearly an ide …
Cohesinopathies: One ring, many obligations.
McNairn AJ, Gerton JL. McNairn AJ, et al. Mutat Res. 2008 Dec 1;647(1-2):103-11. doi: 10.1016/j.mrfmmm.2008.08.010. Epub 2008 Aug 22. Mutat Res. 2008. PMID: 18786550 Review.
Over 75 years ago, two human genetic disorders were initially described and named for their founding physicians: Cornelia de Lange (CdLS) and Roberts syndrome (RBS)/SC Phocomelia (SC). In the past 4 years, genetic studies of patients have revealed the primary genes …
Over 75 years ago, two human genetic disorders were initially described and named for their founding physicians: Cornelia de Lange (CdLS) an …
Cohesin: functions beyond sister chromatid cohesion.
Mehta GD, Kumar R, Srivastava S, Ghosh SK. Mehta GD, et al. FEBS Lett. 2013 Aug 2;587(15):2299-312. doi: 10.1016/j.febslet.2013.06.035. Epub 2013 Jul 4. FEBS Lett. 2013. PMID: 23831059 Free article. Review.
Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations.
Robins DB, Ladda RL, Thieme GA, Boal DK, Emanuel BS, Zackai EH. Robins DB, et al. Am J Med Genet. 1989 Mar;32(3):390-4. doi: 10.1002/ajmg.1320320325. Am J Med Genet. 1989. PMID: 2658590 Review.
We describe 2 sibs with Roberts-SC phocomelia syndrome. Although an ultrasound scan performed at 13 weeks of gestation failed to identify specific abnormalities, repeat scan at 17 weeks detected tetraphocomelia. ...The degree of phenotypic variation ob …
We describe 2 sibs with Roberts-SC phocomelia syndrome. Although an ultrasound scan performed at 13 weeks of ges …
[Chromosome instability syndromes].
Tomaszewska A, Srebniak M, Gnyś A. Tomaszewska A, et al. Pol Merkur Lekarski. 2006 May;20(119):577-81. Pol Merkur Lekarski. 2006. PMID: 16875167 Review. Polish.
This article describe syndromes where hereditary mutations are the reason of chromosomal instability and cause serious clinical results: ataxia-telangiectasia, Nijmegen breakage syndrome, Bloom syndrome, Fanconi's anemia, ICF syndrome, Roberts syndrome, dominantly i …
This article describe syndromes where hereditary mutations are the reason of chromosomal instability and cause serious clinical results: ata …
Etiology and pathogenesis of the cohesinopathies.
Zakari M, Yuen K, Gerton JL. Zakari M, et al. Wiley Interdiscip Rev Dev Biol. 2015 Sep-Oct;4(5):489-504. doi: 10.1002/wdev.190. Epub 2015 Apr 7. Wiley Interdiscip Rev Dev Biol. 2015. PMID: 25847322 Free PMC article. Review.
30 results