Matches in SemOpenAlex for { <https://semopenalex.org/work/W2953284477> ?p ?o ?g. }
Showing items 1 to 85 of
85
with 100 items per page.
- W2953284477 endingPage "1518" @default.
- W2953284477 startingPage "1509" @default.
- W2953284477 abstract "Incontinentia pigmenti (IP; OMIM#308300) is a rare genetic disease resulting in neuroectodermal defects, which can lead to disability. At present, there is neither definitive cure available nor are there any sufficiently reliable insights to predict the severity of the disease. We launched the Incontinentia Pigmenti Genetic Biobank (IPGB) project ( http://www.igb.cnr.it/ipgb ) in 2015 to establish a large-scale deposit of biological samples, to provide detailed clinical information about children diagnosed with IP and to facilitate research. We have built a cohort comprising samples of 381 clinically confirmed patients with IP and 633 healthy individuals recruited through IP patients’ associations. The collection includes 269 trios, 83 duos, and 95 families with at least two affected members and represents an extensive dataset (200 cooperative medical institutes, 139 in Italy and 61 worldwide) that enables a comprehensive phenotyping. Joining the IPGB guarantees all participants access to the results including the genetic testing of IP and the long-term storage of the samples. The IPGB is the largest IP sample collection and one of the largest rare-disease-oriented collections in the world and will be open to requests for access to data by the national and international scientific community." @default.
- W2953284477 created "2019-06-27" @default.
- W2953284477 creator A5001904091 @default.
- W2953284477 creator A5010416920 @default.
- W2953284477 creator A5012265141 @default.
- W2953284477 creator A5013887743 @default.
- W2953284477 creator A5031128060 @default.
- W2953284477 creator A5071929578 @default.
- W2953284477 date "2019-06-23" @default.
- W2953284477 modified "2023-10-10" @default.
- W2953284477 title "The Incontinentia Pigmenti Genetic Biobank: study design and cohort profile to facilitate research into a rare disease worldwide" @default.
- W2953284477 cites W1713385705 @default.
- W2953284477 cites W1788543403 @default.
- W2953284477 cites W1920168804 @default.
- W2953284477 cites W1987621742 @default.
- W2953284477 cites W2012785339 @default.
- W2953284477 cites W2068239235 @default.
- W2953284477 cites W2069466554 @default.
- W2953284477 cites W2097254104 @default.
- W2953284477 cites W2106997984 @default.
- W2953284477 cites W2115911174 @default.
- W2953284477 cites W2118094114 @default.
- W2953284477 cites W2169222013 @default.
- W2953284477 cites W2519906021 @default.
- W2953284477 cites W2742645003 @default.
- W2953284477 doi "https://doi.org/10.1038/s41431-019-0451-0" @default.
- W2953284477 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6777495" @default.
- W2953284477 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31231133" @default.
- W2953284477 hasPublicationYear "2019" @default.
- W2953284477 type Work @default.
- W2953284477 sameAs 2953284477 @default.
- W2953284477 citedByCount "6" @default.
- W2953284477 countsByYear W29532844772020 @default.
- W2953284477 countsByYear W29532844772021 @default.
- W2953284477 countsByYear W29532844772022 @default.
- W2953284477 crossrefType "journal-article" @default.
- W2953284477 hasAuthorship W2953284477A5001904091 @default.
- W2953284477 hasAuthorship W2953284477A5010416920 @default.
- W2953284477 hasAuthorship W2953284477A5012265141 @default.
- W2953284477 hasAuthorship W2953284477A5013887743 @default.
- W2953284477 hasAuthorship W2953284477A5031128060 @default.
- W2953284477 hasAuthorship W2953284477A5071929578 @default.
- W2953284477 hasBestOaLocation W29532844771 @default.
- W2953284477 hasConcept C116567970 @default.
- W2953284477 hasConcept C142724271 @default.
- W2953284477 hasConcept C2779134260 @default.
- W2953284477 hasConcept C2779701055 @default.
- W2953284477 hasConcept C2780668358 @default.
- W2953284477 hasConcept C2780673598 @default.
- W2953284477 hasConcept C54355233 @default.
- W2953284477 hasConcept C71924100 @default.
- W2953284477 hasConcept C72563966 @default.
- W2953284477 hasConcept C86803240 @default.
- W2953284477 hasConceptScore W2953284477C116567970 @default.
- W2953284477 hasConceptScore W2953284477C142724271 @default.
- W2953284477 hasConceptScore W2953284477C2779134260 @default.
- W2953284477 hasConceptScore W2953284477C2779701055 @default.
- W2953284477 hasConceptScore W2953284477C2780668358 @default.
- W2953284477 hasConceptScore W2953284477C2780673598 @default.
- W2953284477 hasConceptScore W2953284477C54355233 @default.
- W2953284477 hasConceptScore W2953284477C71924100 @default.
- W2953284477 hasConceptScore W2953284477C72563966 @default.
- W2953284477 hasConceptScore W2953284477C86803240 @default.
- W2953284477 hasIssue "10" @default.
- W2953284477 hasLocation W29532844771 @default.
- W2953284477 hasLocation W29532844772 @default.
- W2953284477 hasOpenAccess W2953284477 @default.
- W2953284477 hasPrimaryLocation W29532844771 @default.
- W2953284477 hasRelatedWork W2125371786 @default.
- W2953284477 hasRelatedWork W2315085516 @default.
- W2953284477 hasRelatedWork W2316407790 @default.
- W2953284477 hasRelatedWork W2535823875 @default.
- W2953284477 hasRelatedWork W2603773853 @default.
- W2953284477 hasRelatedWork W2902727542 @default.
- W2953284477 hasRelatedWork W2953284477 @default.
- W2953284477 hasRelatedWork W2964295425 @default.
- W2953284477 hasRelatedWork W3125475666 @default.
- W2953284477 hasRelatedWork W4312087161 @default.
- W2953284477 hasVolume "27" @default.
- W2953284477 isParatext "false" @default.
- W2953284477 isRetracted "false" @default.
- W2953284477 magId "2953284477" @default.
- W2953284477 workType "article" @default.