Matches in SemOpenAlex for { <https://semopenalex.org/work/W2296650367> ?p ?o ?g. }
Showing items 1 to 82 of
82
with 100 items per page.
- W2296650367 endingPage "1226" @default.
- W2296650367 startingPage "1222" @default.
- W2296650367 abstract "Purpose To evaluate radiological findings in a cohort of 22 patients with infantile malignant osteopetrosis in order to establish the correlation between radiological findings and different genetic backgrounds. Materials and Methods Clinical files, genetic analysis results, and radiological examinations of children treated for osteopetrosis with bone marrow transplantation in a referral center in the last 5 years were retrospectively evaluated. The study received institutional review board (IRB) approval. Results Twenty‐two patients were included in the study: 18 males, four females, ages 1 month–9 years 10 months, and the median age was 11 months (mean 23 months). There were 12 patients with different mutations in the TCIRG1 gene, five with mutations in the SNX10 gene, four children harbored RANK mutations, and one patient had a CLCN7 mutation. We noted more severe radiological findings in patients with TCIRG1 and RANK mutations, including fractures, osteopetrorickets, hydrocephalus, and hepatomegaly. Varus deformity of the femoral neck was seen exclusively in patients with a TCIRG1 mutation. Conclusions The variable genetic spectrum of osteopetrosis is associated with a variable radiological presentation. These correlations may be helpful for priorities in genetic analysis." @default.
- W2296650367 created "2016-06-24" @default.
- W2296650367 creator A5019096874 @default.
- W2296650367 creator A5031250911 @default.
- W2296650367 creator A5034958638 @default.
- W2296650367 creator A5041628074 @default.
- W2296650367 creator A5088458172 @default.
- W2296650367 date "2016-03-10" @default.
- W2296650367 modified "2023-10-01" @default.
- W2296650367 title "Extending the Spectrum of Radiological Findings in Patients With Severe Osteopetrosis and Different Genetic Backgrounds" @default.
- W2296650367 cites W1596477039 @default.
- W2296650367 cites W1948809851 @default.
- W2296650367 cites W1963701171 @default.
- W2296650367 cites W1998105430 @default.
- W2296650367 cites W2006582030 @default.
- W2296650367 cites W2055599498 @default.
- W2296650367 cites W2066063401 @default.
- W2296650367 cites W2074455041 @default.
- W2296650367 cites W2081041884 @default.
- W2296650367 cites W2083467371 @default.
- W2296650367 cites W2104742449 @default.
- W2296650367 cites W2124869347 @default.
- W2296650367 cites W2149334706 @default.
- W2296650367 cites W2597260089 @default.
- W2296650367 cites W2917301833 @default.
- W2296650367 cites W3187932017 @default.
- W2296650367 cites W4254789767 @default.
- W2296650367 doi "https://doi.org/10.1002/pbc.25952" @default.
- W2296650367 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26970326" @default.
- W2296650367 hasPublicationYear "2016" @default.
- W2296650367 type Work @default.
- W2296650367 sameAs 2296650367 @default.
- W2296650367 citedByCount "18" @default.
- W2296650367 countsByYear W22966503672016 @default.
- W2296650367 countsByYear W22966503672017 @default.
- W2296650367 countsByYear W22966503672018 @default.
- W2296650367 countsByYear W22966503672020 @default.
- W2296650367 countsByYear W22966503672021 @default.
- W2296650367 countsByYear W22966503672022 @default.
- W2296650367 countsByYear W22966503672023 @default.
- W2296650367 crossrefType "journal-article" @default.
- W2296650367 hasAuthorship W2296650367A5019096874 @default.
- W2296650367 hasAuthorship W2296650367A5031250911 @default.
- W2296650367 hasAuthorship W2296650367A5034958638 @default.
- W2296650367 hasAuthorship W2296650367A5041628074 @default.
- W2296650367 hasAuthorship W2296650367A5088458172 @default.
- W2296650367 hasConcept C126322002 @default.
- W2296650367 hasConcept C141071460 @default.
- W2296650367 hasConcept C187212893 @default.
- W2296650367 hasConcept C190892606 @default.
- W2296650367 hasConcept C2781078528 @default.
- W2296650367 hasConcept C71924100 @default.
- W2296650367 hasConcept C72563966 @default.
- W2296650367 hasConceptScore W2296650367C126322002 @default.
- W2296650367 hasConceptScore W2296650367C141071460 @default.
- W2296650367 hasConceptScore W2296650367C187212893 @default.
- W2296650367 hasConceptScore W2296650367C190892606 @default.
- W2296650367 hasConceptScore W2296650367C2781078528 @default.
- W2296650367 hasConceptScore W2296650367C71924100 @default.
- W2296650367 hasConceptScore W2296650367C72563966 @default.
- W2296650367 hasIssue "7" @default.
- W2296650367 hasLocation W22966503671 @default.
- W2296650367 hasLocation W22966503672 @default.
- W2296650367 hasOpenAccess W2296650367 @default.
- W2296650367 hasPrimaryLocation W22966503671 @default.
- W2296650367 hasRelatedWork W2003938723 @default.
- W2296650367 hasRelatedWork W2031341258 @default.
- W2296650367 hasRelatedWork W2047967234 @default.
- W2296650367 hasRelatedWork W2118496982 @default.
- W2296650367 hasRelatedWork W2323943981 @default.
- W2296650367 hasRelatedWork W2419079049 @default.
- W2296650367 hasRelatedWork W2439875401 @default.
- W2296650367 hasRelatedWork W4205361111 @default.
- W2296650367 hasRelatedWork W4381196950 @default.
- W2296650367 hasRelatedWork W2525756941 @default.
- W2296650367 hasVolume "63" @default.
- W2296650367 isParatext "false" @default.
- W2296650367 isRetracted "false" @default.
- W2296650367 magId "2296650367" @default.
- W2296650367 workType "article" @default.