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

Year Number of Results
1976 2
1978 1
1983 1
1990 1
1993 1
1997 1
1998 1
2000 1
2003 1
2004 2
2005 1
2007 3
2008 3
2009 2
2010 3
2011 1
2013 6
2014 6
2015 1
2016 2
2017 12
2018 5
2019 3
2020 3
2021 6
2022 13
2023 18
2024 3

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94 results

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Page 1
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.
Wright JT, Fete M, Schneider H, Zinser M, Koster MI, Clarke AJ, Hadj-Rabia S, Tadini G, Pagnan N, Visinoni AF, Bergendal B, Abbott B, Fete T, Stanford C, Butcher C, D'Souza RN, Sybert VP, Morasso MI. Wright JT, et al. Am J Med Genet A. 2019 Mar;179(3):442-447. doi: 10.1002/ajmg.a.61045. Epub 2019 Jan 31. Am J Med Genet A. 2019. PMID: 30703280 Free PMC article. Review.
Information for categorization and cataloging includes the phenotypic features, Online Mendelian Inheritance in Man number, mode of inheritance, genetic alteration, major developmental pathways involved (e.g., EDA, WNT "wingless-type," TP63 "tumor protein p63 …
Information for categorization and cataloging includes the phenotypic features, Online Mendelian Inheritance in Man number, mo …
Melanoma susceptibility genes and risk assessment.
Marzuka-Alcalá A, Gabree MJ, Tsao H. Marzuka-Alcalá A, et al. Methods Mol Biol. 2014;1102:381-93. doi: 10.1007/978-1-62703-727-3_20. Methods Mol Biol. 2014. PMID: 24258989 Review.
Although several melanoma susceptibility genes have been identified, risk assessment tools have been developed only for the most common gene implicated with hereditary melanoma, CDKN2A. MelaPRO, a validated model that relies on Mendelian inheritance and Bayesian pro …
Although several melanoma susceptibility genes have been identified, risk assessment tools have been developed only for the most common gene …
Genetics of Parkinson's Disease: Genotype-Phenotype Correlations.
Koros C, Simitsi A, Stefanis L. Koros C, et al. Int Rev Neurobiol. 2017;132:197-231. doi: 10.1016/bs.irn.2017.01.009. Epub 2017 Mar 1. Int Rev Neurobiol. 2017. PMID: 28554408 Review.
Interestingly, some of the genes with Mendelian inheritance, such as SNCA, are also relevant to the sporadic disease, suggesting common pathogenetic mechanisms. In this review, we place an emphasis on Mendelian forms, and in particular genetic defects which p …
Interestingly, some of the genes with Mendelian inheritance, such as SNCA, are also relevant to the sporadic disease, suggesti …
Modern management of primary T-cell immunodeficiencies.
Pachlopnik Schmid J, Güngör T, Seger R. Pachlopnik Schmid J, et al. Pediatr Allergy Immunol. 2014 Jun;25(4):300-13. doi: 10.1111/pai.12179. Epub 2014 Jan 3. Pediatr Allergy Immunol. 2014. PMID: 24383740 Review.
The study of human T-cell PIDs with Mendelian inheritance has enabled the molecular characterization of important key functions and pathways in T-cell biology. ...Over the last few years, impressive progress has been made in understanding the disease mechanisms of T …
The study of human T-cell PIDs with Mendelian inheritance has enabled the molecular characterization of important key function …
Is There a Role for Genomics in the Management of Hypertension?
Burrello J, Monticone S, Buffolo F, Tetti M, Veglio F, Williams TA, Mulatero P. Burrello J, et al. Int J Mol Sci. 2017 May 26;18(6):1131. doi: 10.3390/ijms18061131. Int J Mol Sci. 2017. PMID: 28587112 Free PMC article. Review.
Blood pressure (BP) levels are influenced by environmental factors, but there is a strong genetic component. Linkage analysis has identified several genes involved in Mendelian forms of HTN and the associated pathophysiological mechanisms have been unravelled, leading to t …
Blood pressure (BP) levels are influenced by environmental factors, but there is a strong genetic component. Linkage analysis has identified …
The future is now: Technology's impact on the practice of genetic counseling.
Gordon ES, Babu D, Laney DA. Gordon ES, et al. Am J Med Genet C Semin Med Genet. 2018 Mar;178(1):15-23. doi: 10.1002/ajmg.c.31599. Epub 2018 Mar 7. Am J Med Genet C Semin Med Genet. 2018. PMID: 29512937 Review.
While digital tools have been part of the practice of medical genetics for decades, such as internet- or CD-ROM-based tools like Online Mendelian Inheritance in Man and Pictures of Standard Syndromes and Undiagnosed Malformations in the 1980s, the potential for emer …
While digital tools have been part of the practice of medical genetics for decades, such as internet- or CD-ROM-based tools like Online M …
New molecular genetic tests in the diagnosis of heart disease.
Lebo MS, Baxter SM. Lebo MS, et al. Clin Lab Med. 2014 Mar;34(1):137-56, vii-viii. doi: 10.1016/j.cll.2013.11.011. Epub 2014 Jan 14. Clin Lab Med. 2014. PMID: 24507793 Review.
This article discusses the current state of molecular genetic diagnosis for cardiac disorders, focusing on diseases with mendelian inheritance....
This article discusses the current state of molecular genetic diagnosis for cardiac disorders, focusing on diseases with mendelian …
Genetic tests for low- and middle-income countries: a literature review.
Maltese PE, Poplavskaia E, Malyutkina I, Sirocco F, Bonizzato A, Capodicasa N, Nicoulina SY, Salmina A, Aksutina N, Dundar M, Beccari T, Cecchin S, Bertelli M. Maltese PE, et al. Genet Mol Res. 2017 Feb 8;16(1). doi: 10.4238/gmr16019466. Genet Mol Res. 2017. PMID: 28198508 Free article. Review.
The aim of this review is to describe a series of ten genetic diseases with Mendelian inheritance pattern in people of low- or middle-income countries, which can be easily identified with simple and affordable methods. ...
The aim of this review is to describe a series of ten genetic diseases with Mendelian inheritance pattern in people of low- or …
Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
Hebbar M, Al-Taweel N, Gill I, Boelman C, Dean RA, Goodchild SJ, Mezeyova J, Shuart NG, Johnson JP Jr, Lee J, Michoulas A, Huh LL, Armstrong L, Connolly MB, Demos MK. Hebbar M, et al. BMC Neurol. 2024 Jan 17;24(1):31. doi: 10.1186/s12883-023-03478-y. BMC Neurol. 2024. PMID: 38233770 Free PMC article.
BACKGROUND: SCN8A-related disorders are a group of variable conditions caused by pathogenic variations in SCN8A. Online Mendelian Inheritance in Man (OMIM) terms them as developmental and epileptic encephalopathy 13, benign familial infantile seizures 5 or cognitive …
BACKGROUND: SCN8A-related disorders are a group of variable conditions caused by pathogenic variations in SCN8A. Online Mendelian …
94 results