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

Year Number of Results
2006 1
2007 1
2008 1
2009 3
2010 2
2011 1
2012 6
2013 5
2014 5
2015 9
2016 8
2017 19
2018 15
2019 10
2020 13
2021 17
2022 18
2023 9
2024 6

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120 results

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Page 1
Genotype-phenotype correlates in Joubert syndrome: A review.
Gana S, Serpieri V, Valente EM. Gana S, et al. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):72-88. doi: 10.1002/ajmg.c.31963. Epub 2022 Mar 3. Am J Med Genet C Semin Med Genet. 2022. PMID: 35238134 Free PMC article. Review.
These examples highlight how an accurate description of the range of clinical symptoms associated with defects in each causative gene, including the rare ones, would better address prognosis and help guiding a personalized management. This review proposes to address this i …
These examples highlight how an accurate description of the range of clinical symptoms associated with defects in each causative gene, inclu …
Motile cilia and airway disease.
Legendre M, Zaragosi LE, Mitchison HM. Legendre M, et al. Semin Cell Dev Biol. 2021 Feb;110:19-33. doi: 10.1016/j.semcdb.2020.11.007. Epub 2020 Dec 2. Semin Cell Dev Biol. 2021. PMID: 33279404 Review.
Here, we review ciliated airway development and the genetic stratification that underlies PCD, for which the underlying genotype can increasingly be connected to biological mechanism and disease prognostics. Progress in this field can facilitate clinical translation of res …
Here, we review ciliated airway development and the genetic stratification that underlies PCD, for which the underlying genotype can increas …
Molecular genetics of renal ciliopathies.
Barroso-Gil M, Olinger E, Sayer JA. Barroso-Gil M, et al. Biochem Soc Trans. 2021 Jun 30;49(3):1205-1220. doi: 10.1042/BST20200791. Biochem Soc Trans. 2021. PMID: 33960378 Review.
The molecular investigation of inherited renal ciliopathies often allows a precise diagnosis to be reached where renal histology and other investigations have been unhelpful and can help in determining kidney prognosis. With increasing molecular insights, it is now apparen …
The molecular investigation of inherited renal ciliopathies often allows a precise diagnosis to be reached where renal histology and other i …
Advances in Skeletal Dysplasia Genetics.
Geister KA, Camper SA. Geister KA, et al. Annu Rev Genomics Hum Genet. 2015;16:199-227. doi: 10.1146/annurev-genom-090314-045904. Epub 2015 Apr 22. Annu Rev Genomics Hum Genet. 2015. PMID: 25939055 Free PMC article. Review.
The acceleration of skeletal dysplasia genetics is truly spectacular, and these advances hold great promise for diagnostics, risk prediction, and therapeutic design....
The acceleration of skeletal dysplasia genetics is truly spectacular, and these advances hold great promise for diagnostics, risk predict …
Systemic diseases associated with retinal dystrophies.
Werdich XQ, Place EM, Pierce EA. Werdich XQ, et al. Semin Ophthalmol. 2014 Sep-Nov;29(5-6):319-28. doi: 10.3109/08820538.2014.959202. Semin Ophthalmol. 2014. PMID: 25325857 Review.
A genetic diagnosis may also be informative with regard to prognosis and potential therapies. Effective management and rehabilitation for patients with syndromic retinal dystrophy requires a comprehensive genetic-based team approach involving patients, family members, opht …
A genetic diagnosis may also be informative with regard to prognosis and potential therapies. Effective management and rehabilitation …
Ciliopathies: Coloring outside of the lines.
Strong A, Li D, Mentch F, Bedoukian E, Hartung EA, Meyers K, Skraban C, Wen J, Medne L, Glessner J, Watson D, Krantz I, Hakonarson H. Strong A, et al. Am J Med Genet A. 2021 Mar;185(3):687-694. doi: 10.1002/ajmg.a.62013. Epub 2020 Dec 25. Am J Med Genet A. 2021. PMID: 33369054 Free PMC article.
Matching variants for functional characterization of genetic variants.
Cevik S, Zhao P, Zorluer A, Pir MS, Bian W, Kaplan OI. Cevik S, et al. G3 (Bethesda). 2023 Dec 6;13(12):jkad227. doi: 10.1093/g3journal/jkad227. G3 (Bethesda). 2023. PMID: 37933433 Free PMC article.
However, genetic diagnosis of many disorders remains problematic due to the lack of interpretation for many genetic variants, especially missenses, the infeasibility of high-throughput experiments on mammals, and the shortcomings of computational prediction technologies. A …
However, genetic diagnosis of many disorders remains problematic due to the lack of interpretation for many genetic variants, especially mis …
Chronic airway disease in primary ciliary dyskinesia-spiced with geno-phenotype associations.
Nielsen KG, Holgersen MG, Crowley S, Marthin JK. Nielsen KG, et al. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):20-35. doi: 10.1002/ajmg.c.31967. Epub 2022 Mar 29. Am J Med Genet C Semin Med Genet. 2022. PMID: 35352480 Free PMC article. Review.
Although most patients with PCD are diagnosed during preschool years, it is obvious that the chronic lung disease starts its course already from birth. The many faces of the clinical picture change, as does lung function, structural lung damage, the burden of infection, an …
Although most patients with PCD are diagnosed during preschool years, it is obvious that the chronic lung disease starts its course a …
120 results