FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4308992138> ?p ?o ?g. }

• W4308992138 abstract "Abstract Background Terminal 6q deletions are rare, and the number of well-defined published cases is limited. Since parents of children with these aberrations often search the internet and unite via international social media platforms, these dedicated platforms may hold valuable knowledge about additional cases. The Chromosome 6 Project is a collaboration between researchers and clinicians at the University Medical Center Groningen and members of a Chromosome 6 support group on Facebook. The aim of the project is to improve the surveillance of patients with chromosome 6 aberrations and the support for their families by increasing the available information about these rare aberrations. This parent-driven research project makes use of information collected directly from parents via a multilingual online questionnaire. Here, we report our findings on 93 individuals with terminal 6q deletions and 11 individuals with interstitial 6q26q27 deletions, a cohort that includes 38 newly identified individuals. Results Using this cohort, we can identify a common terminal 6q deletion phenotype that includes microcephaly, dysplastic outer ears, hypertelorism, vision problems, abnormal eye movements, dental abnormalities, feeding problems, recurrent infections, respiratory problems, spinal cord abnormalities, abnormal vertebrae, scoliosis, joint hypermobility, brain abnormalities (ventriculomegaly/hydrocephaly, corpus callosum abnormality and cortical dysplasia), seizures, hypotonia, ataxia, torticollis, balance problems, developmental delay, sleeping problems and hyperactivity. Other frequently reported clinical characteristics are congenital heart defects, kidney problems, abnormalities of the female genitalia, spina bifida, anal abnormalities, positional foot deformities, hypertonia and self-harming behaviour. The phenotypes were comparable up to a deletion size of 7.1 Mb, and most features could be attributed to the terminally located gene DLL1 . Larger deletions that include QKI (>7.1 Mb) lead to a more severe phenotype that includes additional clinical characteristics. Conclusions Terminal 6q deletions cause a common but highly variable phenotype. Most clinical characteristics can be linked to the smallest terminal 6q deletions that include the gene DLL1 (>500 kb). Based on our findings, we provide recommendations for clinical follow-up and surveillance of individuals with terminal 6q deletions." @default.
• W4308992138 created "2022-11-20" @default.
• W4308992138 creator A5018950335 @default.
• W4308992138 creator A5043457151 @default.
• W4308992138 creator A5065492527 @default.
• W4308992138 creator A5066167731 @default.
• W4308992138 creator A5085342539 @default.
• W4308992138 date "2022-11-14" @default.
• W4308992138 modified "2023-10-16" @default.
• W4308992138 title "The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for<i>DLL1</i>" @default.
• W4308992138 cites W1559320158 @default.
• W4308992138 cites W1739125908 @default.
• W4308992138 cites W1890830781 @default.
• W4308992138 cites W1891861238 @default.
• W4308992138 cites W1970200027 @default.
• W4308992138 cites W1972422362 @default.
• W4308992138 cites W1981118438 @default.
• W4308992138 cites W1982826808 @default.
• W4308992138 cites W2014103897 @default.
• W4308992138 cites W2018329827 @default.
• W4308992138 cites W2018652380 @default.
• W4308992138 cites W2019257751 @default.
• W4308992138 cites W2023232011 @default.
• W4308992138 cites W2024030581 @default.
• W4308992138 cites W2026811464 @default.
• W4308992138 cites W2035972819 @default.
• W4308992138 cites W2037227658 @default.
• W4308992138 cites W2052205350 @default.
• W4308992138 cites W2062265785 @default.
• W4308992138 cites W2077166158 @default.
• W4308992138 cites W2079352277 @default.
• W4308992138 cites W2100244883 @default.
• W4308992138 cites W2114364233 @default.
• W4308992138 cites W2118055797 @default.
• W4308992138 cites W2118147999 @default.
• W4308992138 cites W2129867386 @default.
• W4308992138 cites W2132750337 @default.
• W4308992138 cites W2141307855 @default.
• W4308992138 cites W2158741493 @default.
• W4308992138 cites W2166657289 @default.
• W4308992138 cites W2193806089 @default.
• W4308992138 cites W2228663030 @default.
• W4308992138 cites W2256016639 @default.
• W4308992138 cites W2287293709 @default.
• W4308992138 cites W2327235326 @default.
• W4308992138 cites W2431363369 @default.
• W4308992138 cites W2575512194 @default.
• W4308992138 cites W2744829308 @default.
• W4308992138 cites W2763010484 @default.
• W4308992138 cites W2796790713 @default.
• W4308992138 cites W2806956737 @default.
• W4308992138 cites W2891692744 @default.
• W4308992138 cites W2895323567 @default.
• W4308992138 cites W2950656948 @default.
• W4308992138 cites W2962792760 @default.
• W4308992138 cites W2974136667 @default.
• W4308992138 cites W3009924971 @default.
• W4308992138 cites W3119971867 @default.
• W4308992138 cites W4200227591 @default.
• W4308992138 cites W4308708336 @default.
• W4308992138 cites W4309168002 @default.
• W4308992138 doi "https://doi.org/10.1101/2022.11.08.22282043" @default.
• W4308992138 hasPublicationYear "2022" @default.
• W4308992138 type Work @default.
• W4308992138 citedByCount "2" @default.
• W4308992138 countsByYear W43089921382022 @default.
• W4308992138 countsByYear W43089921382023 @default.
• W4308992138 crossrefType "posted-content" @default.
• W4308992138 hasAuthorship W4308992138A5018950335 @default.
• W4308992138 hasAuthorship W4308992138A5043457151 @default.
• W4308992138 hasAuthorship W4308992138A5065492527 @default.
• W4308992138 hasAuthorship W4308992138A5066167731 @default.
• W4308992138 hasAuthorship W4308992138A5085342539 @default.
• W4308992138 hasBestOaLocation W43089921381 @default.
• W4308992138 hasConcept C104317684 @default.
• W4308992138 hasConcept C118552586 @default.
• W4308992138 hasConcept C142724271 @default.
• W4308992138 hasConcept C172680121 @default.
• W4308992138 hasConcept C187212893 @default.
• W4308992138 hasConcept C2776212519 @default.
• W4308992138 hasConcept C2776395126 @default.
• W4308992138 hasConcept C2779234561 @default.
• W4308992138 hasConcept C2779546488 @default.
• W4308992138 hasConcept C2780189214 @default.
• W4308992138 hasConcept C2780955175 @default.
• W4308992138 hasConcept C30481170 @default.
• W4308992138 hasConcept C50965678 @default.
• W4308992138 hasConcept C53226629 @default.
• W4308992138 hasConcept C54355233 @default.
• W4308992138 hasConcept C551499885 @default.
• W4308992138 hasConcept C71924100 @default.
• W4308992138 hasConcept C72563966 @default.
• W4308992138 hasConcept C86803240 @default.
• W4308992138 hasConceptScore W4308992138C104317684 @default.
• W4308992138 hasConceptScore W4308992138C118552586 @default.
• W4308992138 hasConceptScore W4308992138C142724271 @default.
• W4308992138 hasConceptScore W4308992138C172680121 @default.
• W4308992138 hasConceptScore W4308992138C187212893 @default.
• W4308992138 hasConceptScore W4308992138C2776212519 @default.
• W4308992138 hasConceptScore W4308992138C2776395126 @default.

• next