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Items: 1 to 20 of 27

1.

Genome stability: What we have learned from cohesinopathies.

Cucco F, Musio A.

Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):171-8. doi: 10.1002/ajmg.c.31492. Epub 2016 Apr 19. Review.

PMID:
27091086
2.

Etiology and pathogenesis of the cohesinopathies.

Zakari M, Yuen K, Gerton JL.

Wiley Interdiscip Rev Dev Biol. 2015 Sep-Oct;4(5):489-504. doi: 10.1002/wdev.190. Epub 2015 Apr 7. Review.

PMID:
25847322
3.

The roles of cohesins in mitosis, meiosis, and human health and disease.

Brooker AS, Berkowitz KM.

Methods Mol Biol. 2014;1170:229-66. doi: 10.1007/978-1-4939-0888-2_11. Review.

4.

Cohesinopathies of a feather flock together.

Skibbens RV, Colquhoun JM, Green MJ, Molnar CA, Sin DN, Sullivan BJ, Tanzosh EE.

PLoS Genet. 2013;9(12):e1004036. doi: 10.1371/journal.pgen.1004036. Epub 2013 Dec 19. Review.

5.

Mechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathies.

Ball AR Jr, Chen YY, Yokomori K.

Biochim Biophys Acta. 2014 Mar;1839(3):191-202. doi: 10.1016/j.bbagrm.2013.11.002. Epub 2013 Nov 22. Review.

6.

Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders.

Trainor PA, Merrill AE.

Biochim Biophys Acta. 2014 Jun;1842(6):769-78. doi: 10.1016/j.bbadis.2013.11.010. Epub 2013 Nov 16. Review.

7.

Cohesin: functions beyond sister chromatid cohesion.

Mehta GD, Kumar R, Srivastava S, Ghosh SK.

FEBS Lett. 2013 Aug 2;587(15):2299-312. doi: 10.1016/j.febslet.2013.06.035. Epub 2013 Jul 4. Review.

8.

The non-redundant function of cohesin acetyltransferase Esco2: some answers and new questions.

Whelan G, Kreidl E, Peters JM, Eichele G.

Nucleus. 2012 Jul 1;3(4):330-4. Epub 2012 May 22. Review.

PMID:
22614755
9.

The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer.

Mannini L, Menga S, Musio A.

Hum Mutat. 2010 Jun;31(6):623-30. doi: 10.1002/humu.21252. Review.

PMID:
20513141
10.

Heterochromatin and the cohesion of sister chromatids.

Gartenberg M.

Chromosome Res. 2009;17(2):229-38. doi: 10.1007/s10577-008-9012-z. Review.

PMID:
19308703
11.

Syndromes, disorders and maternal risk factors associated with neural tube defects (V).

Chen CP.

Taiwan J Obstet Gynecol. 2008 Sep;47(3):259-66. doi: 10.1016/S1028-4559(08)60122-9. Review.

12.

Cohesinopathies: One ring, many obligations.

McNairn AJ, Gerton JL.

Mutat Res. 2008 Dec 1;647(1-2):103-11. doi: 10.1016/j.mrfmmm.2008.08.010. Epub 2008 Aug 22. Review.

PMID:
18786550
13.

[Chromosome instability syndromes].

Tomaszewska A, Srebniak M, Gnyś A.

Pol Merkur Lekarski. 2006 May;20(119):577-81. Review. Polish.

PMID:
16875167
14.

Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings.

Temtamy SA, Ismail S, Helmy NA.

Genet Couns. 2006;17(1):1-13. Review.

PMID:
16719272
15.

Mullerian agenesis and thrombocytopenia absent radius syndrome: a case report and review of syndromes associated with Mullerian agenesis.

Behera M, Couchman G, Walmer D, Price TM.

Obstet Gynecol Surv. 2005 Jul;60(7):453-61. Review.

PMID:
15995562
16.

[Roberts syndrome].

Kubota T.

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):589-90. Review. Japanese. No abstract available.

PMID:
11528911
17.

Roberts-SC phocomelia syndrome.

Maheshwari A, Kumar P, Dutta S, Narang A.

Indian J Pediatr. 2001 Jun;68(6):557-9. Review.

PMID:
11450388
18.

[Roberts-SC phocomelia syndrome].

Kawame H.

Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):234-5. Review. Japanese. No abstract available.

PMID:
11057210
19.

Splenogonadal fusion limb defect syndrome: report of five new cases and review.

Bonneau D, Roume J, Gonzalez M, Toutain A, Carles D, Maréchaud M, Biran-Mucignat V, Amati P, Moraine C.

Am J Med Genet. 1999 Oct 8;86(4):347-58. Review.

PMID:
10494091
20.

Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome.

Urban M, Opitz C, Bommer C, Enders H, Tinschert S, Witkowski R.

Am J Med Genet. 1998 Sep 23;79(3):155-60. Review.

PMID:
9788553

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