Matches in SemOpenAlex for { <https://semopenalex.org/work/W3155173676> ?p ?o ?g. }
Showing items 1 to 99 of
99
with 100 items per page.
- W3155173676 endingPage "165" @default.
- W3155173676 startingPage "155" @default.
- W3155173676 abstract "To investigate the variant spectrum and genotype-phenotype correlations in a Turkish cohort with Neurofibromatosis Type-1 (NF1).We retrospectively investigated the clinical and molecular data of 138 NF1 patients from 129 families who had been followed-up for a median of 3.9 (1.25-18.5) years.NF1 sequencing revealed 73 different intragenic variants, 19 of which were novel. Seven large deletions were detected by multiplex ligation-dependent probe amplification (MLPA) analyses. The total detection rate of pathogenic NF1 variants was found to be 87.1%. Comparing age groups, cutaneous neurofibromas, freckling, and Lisch nodules were more prevalent in patients older than 12 years (p > .05). Optic glioma detected in 17.3% of the patients and was significantly more common before the age of 6 (p > .001). Other solid tumors developed in 5% of the patients. There was no genotype-phenotype correlation between patients with truncating and nontruncating variants. However, six out of seven patients with large deletions had significant developmental delay, one patient with the c.2970_2972delAAT (p.Met992del) variant had only typical pigmentary features, and another patient with the c.4267A > G (p.Lys1423Glu) variant had CALMs, freckling, neurofibromas, and Noonan-like phenotype.We described 19 novel variants and seven large deletions in NF1. Applying MLPA assay in NF1 is useful in expanding the molecular diagnosis. Although very limited genotype-phenotype correlation has been reported in NF1, the fact that specific phenotypic findings were observed in our patients with large deletions and two intragenic variants supports the studies published recently." @default.
- W3155173676 created "2021-04-26" @default.
- W3155173676 creator A5012109384 @default.
- W3155173676 creator A5020511059 @default.
- W3155173676 creator A5026096890 @default.
- W3155173676 creator A5038070981 @default.
- W3155173676 creator A5051177902 @default.
- W3155173676 creator A5084683935 @default.
- W3155173676 creator A5090715353 @default.
- W3155173676 date "2021-04-20" @default.
- W3155173676 modified "2023-10-18" @default.
- W3155173676 title "Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation‐dependent probe amplification and genotype–phenotype correlation in 138 Turkish patients" @default.
- W3155173676 cites W1505052107 @default.
- W3155173676 cites W1521802642 @default.
- W3155173676 cites W1951662519 @default.
- W3155173676 cites W2041524038 @default.
- W3155173676 cites W2044976670 @default.
- W3155173676 cites W2047116396 @default.
- W3155173676 cites W2051978340 @default.
- W3155173676 cites W2055947086 @default.
- W3155173676 cites W2125398512 @default.
- W3155173676 cites W2134047913 @default.
- W3155173676 cites W2163563652 @default.
- W3155173676 cites W2551919707 @default.
- W3155173676 cites W2588561047 @default.
- W3155173676 cites W2588584253 @default.
- W3155173676 cites W2604078450 @default.
- W3155173676 cites W2625944954 @default.
- W3155173676 cites W2756601039 @default.
- W3155173676 cites W2778962293 @default.
- W3155173676 cites W2788759916 @default.
- W3155173676 cites W2804517361 @default.
- W3155173676 cites W2883727952 @default.
- W3155173676 cites W2889724688 @default.
- W3155173676 cites W2895724905 @default.
- W3155173676 cites W2978069961 @default.
- W3155173676 cites W2979328224 @default.
- W3155173676 cites W2990099430 @default.
- W3155173676 cites W3007324125 @default.
- W3155173676 cites W4253368897 @default.
- W3155173676 doi "https://doi.org/10.1111/ahg.12422" @default.
- W3155173676 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33877690" @default.
- W3155173676 hasPublicationYear "2021" @default.
- W3155173676 type Work @default.
- W3155173676 sameAs 3155173676 @default.
- W3155173676 citedByCount "2" @default.
- W3155173676 countsByYear W31551736762023 @default.
- W3155173676 crossrefType "journal-article" @default.
- W3155173676 hasAuthorship W3155173676A5012109384 @default.
- W3155173676 hasAuthorship W3155173676A5020511059 @default.
- W3155173676 hasAuthorship W3155173676A5026096890 @default.
- W3155173676 hasAuthorship W3155173676A5038070981 @default.
- W3155173676 hasAuthorship W3155173676A5051177902 @default.
- W3155173676 hasAuthorship W3155173676A5084683935 @default.
- W3155173676 hasAuthorship W3155173676A5090715353 @default.
- W3155173676 hasConcept C104317684 @default.
- W3155173676 hasConcept C120599132 @default.
- W3155173676 hasConcept C127716648 @default.
- W3155173676 hasConcept C135763542 @default.
- W3155173676 hasConcept C153911025 @default.
- W3155173676 hasConcept C200844832 @default.
- W3155173676 hasConcept C2778984943 @default.
- W3155173676 hasConcept C2781188995 @default.
- W3155173676 hasConcept C36823959 @default.
- W3155173676 hasConcept C54355233 @default.
- W3155173676 hasConcept C86803240 @default.
- W3155173676 hasConceptScore W3155173676C104317684 @default.
- W3155173676 hasConceptScore W3155173676C120599132 @default.
- W3155173676 hasConceptScore W3155173676C127716648 @default.
- W3155173676 hasConceptScore W3155173676C135763542 @default.
- W3155173676 hasConceptScore W3155173676C153911025 @default.
- W3155173676 hasConceptScore W3155173676C200844832 @default.
- W3155173676 hasConceptScore W3155173676C2778984943 @default.
- W3155173676 hasConceptScore W3155173676C2781188995 @default.
- W3155173676 hasConceptScore W3155173676C36823959 @default.
- W3155173676 hasConceptScore W3155173676C54355233 @default.
- W3155173676 hasConceptScore W3155173676C86803240 @default.
- W3155173676 hasIssue "5" @default.
- W3155173676 hasLocation W31551736761 @default.
- W3155173676 hasLocation W31551736762 @default.
- W3155173676 hasOpenAccess W3155173676 @default.
- W3155173676 hasPrimaryLocation W31551736761 @default.
- W3155173676 hasRelatedWork W1577495460 @default.
- W3155173676 hasRelatedWork W1995919294 @default.
- W3155173676 hasRelatedWork W2143411193 @default.
- W3155173676 hasRelatedWork W2170578762 @default.
- W3155173676 hasRelatedWork W2342398113 @default.
- W3155173676 hasRelatedWork W3083692166 @default.
- W3155173676 hasRelatedWork W3155173676 @default.
- W3155173676 hasRelatedWork W4242721089 @default.
- W3155173676 hasRelatedWork W4304587291 @default.
- W3155173676 hasRelatedWork W4319333460 @default.
- W3155173676 hasVolume "85" @default.
- W3155173676 isParatext "false" @default.
- W3155173676 isRetracted "false" @default.
- W3155173676 magId "3155173676" @default.
- W3155173676 workType "article" @default.