Matches in SemOpenAlex for { <https://semopenalex.org/work/W2895724905> ?p ?o ?g. }
- W2895724905 endingPage "105" @default.
- W2895724905 startingPage "95" @default.
- W2895724905 abstract "Neurofibromatosis Type 1 (NF1) is caused by mutations of the NF1 gene. The aim of this study was to identify the genetic causes underlying the disease, attempt possible phenotype/genotype correlations and add to the NF1 mutation spectrum. A screening protocol based on genomic DNA was established in 168 patients, encompassing sequencing of all coding exons and adjoining introns using a custom targeted next generation sequencing protocol and subsequent confirmation of findings with Sanger sequencing. MLPA was used to detect deletions/duplications and positive findings were confirmed by RNA analysis. All novel findings were evaluated according to ACMG Standards and guidelines for the interpretation of sequence variants with the aid of in-silico bioinformatic tools and family segregation analysis. A germline variant was identified in 145 patients (86%). In total 49 known and 70 novel variants in coding and non-coding regions were identified. Seven patients carried whole or partial gene deletions. NF1 patients, present with high phenotypic variability even in cases where the same germline disease causing variant has been identified. Our findings will contribute to a better knowledge of the genetic causes and the phenotypic expression related to the disease." @default.
- W2895724905 created "2018-10-12" @default.
- W2895724905 creator A5000764907 @default.
- W2895724905 creator A5013391731 @default.
- W2895724905 creator A5025826606 @default.
- W2895724905 creator A5044540325 @default.
- W2895724905 creator A5045387414 @default.
- W2895724905 creator A5047216605 @default.
- W2895724905 creator A5047740775 @default.
- W2895724905 creator A5065962772 @default.
- W2895724905 creator A5077273301 @default.
- W2895724905 creator A5088344019 @default.
- W2895724905 date "2018-12-01" @default.
- W2895724905 modified "2023-10-18" @default.
- W2895724905 title "Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA" @default.
- W2895724905 cites W1522859997 @default.
- W2895724905 cites W1525254391 @default.
- W2895724905 cites W1563940013 @default.
- W2895724905 cites W1571050132 @default.
- W2895724905 cites W1571496727 @default.
- W2895724905 cites W1588935895 @default.
- W2895724905 cites W1757000446 @default.
- W2895724905 cites W1854204334 @default.
- W2895724905 cites W1912672559 @default.
- W2895724905 cites W1926295749 @default.
- W2895724905 cites W1970413157 @default.
- W2895724905 cites W1973106187 @default.
- W2895724905 cites W1974290681 @default.
- W2895724905 cites W1976009942 @default.
- W2895724905 cites W1980362573 @default.
- W2895724905 cites W1980740976 @default.
- W2895724905 cites W1987186315 @default.
- W2895724905 cites W1993157298 @default.
- W2895724905 cites W2006211674 @default.
- W2895724905 cites W2010105281 @default.
- W2895724905 cites W2015264645 @default.
- W2895724905 cites W2021341670 @default.
- W2895724905 cites W2022971724 @default.
- W2895724905 cites W2023636715 @default.
- W2895724905 cites W2024405748 @default.
- W2895724905 cites W2027575976 @default.
- W2895724905 cites W2032220244 @default.
- W2895724905 cites W2034605371 @default.
- W2895724905 cites W2044976670 @default.
- W2895724905 cites W2050724926 @default.
- W2895724905 cites W2051978340 @default.
- W2895724905 cites W2059986841 @default.
- W2895724905 cites W2066278568 @default.
- W2895724905 cites W2066659486 @default.
- W2895724905 cites W2071893342 @default.
- W2895724905 cites W2078747821 @default.
- W2895724905 cites W2089335658 @default.
- W2895724905 cites W2097794378 @default.
- W2895724905 cites W2103344965 @default.
- W2895724905 cites W2104549677 @default.
- W2895724905 cites W2111326065 @default.
- W2895724905 cites W2114527338 @default.
- W2895724905 cites W2117131162 @default.
- W2895724905 cites W2121315227 @default.
- W2895724905 cites W2123943285 @default.
- W2895724905 cites W2132123037 @default.
- W2895724905 cites W2137888858 @default.
- W2895724905 cites W2138616826 @default.
- W2895724905 cites W2141098477 @default.
- W2895724905 cites W2143473161 @default.
- W2895724905 cites W2148171419 @default.
- W2895724905 cites W2159096148 @default.
- W2895724905 cites W2163563652 @default.
- W2895724905 cites W2182830984 @default.
- W2895724905 cites W2256016639 @default.
- W2895724905 cites W2267547418 @default.
- W2895724905 cites W2295527059 @default.
- W2895724905 cites W2519412253 @default.
- W2895724905 cites W2550279928 @default.
- W2895724905 cites W2553856194 @default.
- W2895724905 cites W2567378356 @default.
- W2895724905 cites W2580887223 @default.
- W2895724905 cites W2588561047 @default.
- W2895724905 cites W2591172233 @default.
- W2895724905 cites W2756278578 @default.
- W2895724905 cites W2778962293 @default.
- W2895724905 cites W2797649522 @default.
- W2895724905 doi "https://doi.org/10.1016/j.jns.2018.10.006" @default.
- W2895724905 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30308447" @default.
- W2895724905 hasPublicationYear "2018" @default.
- W2895724905 type Work @default.
- W2895724905 sameAs 2895724905 @default.
- W2895724905 citedByCount "27" @default.
- W2895724905 countsByYear W28957249052019 @default.
- W2895724905 countsByYear W28957249052020 @default.
- W2895724905 countsByYear W28957249052021 @default.
- W2895724905 countsByYear W28957249052022 @default.
- W2895724905 countsByYear W28957249052023 @default.
- W2895724905 crossrefType "journal-article" @default.
- W2895724905 hasAuthorship W2895724905A5000764907 @default.
- W2895724905 hasAuthorship W2895724905A5013391731 @default.
- W2895724905 hasAuthorship W2895724905A5025826606 @default.
- W2895724905 hasAuthorship W2895724905A5044540325 @default.