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Table representation of search results timeline featuring number of search results per year.

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1988 2
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2006 3
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7 results

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Filters applied: Meta-Analysis, Review, Systematic Review, in the last 10 years. Clear all
Page 1
An ever-changing landscape in Roberts syndrome biology: Implications for macromolecular damage.
Mfarej MG, Skibbens RV. Mfarej MG, et al. PLoS Genet. 2020 Dec 31;16(12):e1009219. doi: 10.1371/journal.pgen.1009219. eCollection 2020 Dec. PLoS Genet. 2020. PMID: 33382686 Free PMC article. Review.
Roberts syndrome (RBS) is a rare developmental disorder that can include craniofacial abnormalities, limb malformations, missing digits, intellectual disabilities, stillbirth, and early mortality. ...
Roberts syndrome (RBS) is a rare developmental disorder that can include craniofacial abnormalities, limb malformations, missi …
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 …
ESCO2 Spectrum Disorder.
Vega H, Gordillo M, Jabs EW. Vega H, et al. 2006 Apr 18 [updated 2020 Mar 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2006 Apr 18 [updated 2020 Mar 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301332 Free Books & Documents. Review.
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 …
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.