Matches in SemOpenAlex for { <https://semopenalex.org/work/W2072300959> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W2072300959 endingPage "E359" @default.
- W2072300959 startingPage "E356" @default.
- W2072300959 abstract "abstract Context: During meiosis I, the recombination frequency in the pseudoautosomal region on Xp and Yp (PAR1) in males is very high. As a result, mutated genes located within the PAR1 region can be transferred from the Y-chromosome to the X-chromosome and vice versa. Patients: Here we describe three families with SHOX abnormalities resulting in Leri-Weill dyschondrosteosis or Langer mesomelic dysplasia. Results: In about half of the segregations investigated, a transfer of the SHOX abnormality to the alternate sex chromosome was demonstrated. Conclusions: Patients with an abnormality of the SHOX gene should receive genetic counseling as to the likelihood that they may transmit the mutation or deletion to a son as well as to a daughter." @default.
- W2072300959 created "2016-06-24" @default.
- W2072300959 creator A5005316724 @default.
- W2072300959 creator A5008623288 @default.
- W2072300959 creator A5009704147 @default.
- W2072300959 creator A5011462407 @default.
- W2072300959 creator A5017879337 @default.
- W2072300959 creator A5023533163 @default.
- W2072300959 creator A5043475287 @default.
- W2072300959 creator A5047249695 @default.
- W2072300959 creator A5048171390 @default.
- W2072300959 creator A5054571302 @default.
- W2072300959 creator A5079072120 @default.
- W2072300959 creator A5080848172 @default.
- W2072300959 date "2011-02-01" @default.
- W2072300959 modified "2023-10-14" @default.
- W2072300959 title "The Jumping SHOX Gene—Crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis" @default.
- W2072300959 cites W1969253684 @default.
- W2072300959 cites W1977090939 @default.
- W2072300959 cites W1980226362 @default.
- W2072300959 cites W1989917375 @default.
- W2072300959 cites W2013262921 @default.
- W2072300959 cites W2067449156 @default.
- W2072300959 cites W2088357803 @default.
- W2072300959 cites W2096966740 @default.
- W2072300959 cites W2129595192 @default.
- W2072300959 cites W2142834510 @default.
- W2072300959 cites W2150318323 @default.
- W2072300959 cites W2155174761 @default.
- W2072300959 cites W2156916892 @default.
- W2072300959 cites W2168791691 @default.
- W2072300959 doi "https://doi.org/10.1210/jc.2010-1505" @default.
- W2072300959 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21068148" @default.
- W2072300959 hasPublicationYear "2011" @default.
- W2072300959 type Work @default.
- W2072300959 sameAs 2072300959 @default.
- W2072300959 citedByCount "12" @default.
- W2072300959 countsByYear W20723009592012 @default.
- W2072300959 countsByYear W20723009592013 @default.
- W2072300959 countsByYear W20723009592014 @default.
- W2072300959 countsByYear W20723009592015 @default.
- W2072300959 countsByYear W20723009592016 @default.
- W2072300959 countsByYear W20723009592020 @default.
- W2072300959 crossrefType "journal-article" @default.
- W2072300959 hasAuthorship W2072300959A5005316724 @default.
- W2072300959 hasAuthorship W2072300959A5008623288 @default.
- W2072300959 hasAuthorship W2072300959A5009704147 @default.
- W2072300959 hasAuthorship W2072300959A5011462407 @default.
- W2072300959 hasAuthorship W2072300959A5017879337 @default.
- W2072300959 hasAuthorship W2072300959A5023533163 @default.
- W2072300959 hasAuthorship W2072300959A5043475287 @default.
- W2072300959 hasAuthorship W2072300959A5047249695 @default.
- W2072300959 hasAuthorship W2072300959A5048171390 @default.
- W2072300959 hasAuthorship W2072300959A5054571302 @default.
- W2072300959 hasAuthorship W2072300959A5079072120 @default.
- W2072300959 hasAuthorship W2072300959A5080848172 @default.
- W2072300959 hasConcept C104317684 @default.
- W2072300959 hasConcept C148196450 @default.
- W2072300959 hasConcept C151730666 @default.
- W2072300959 hasConcept C169836425 @default.
- W2072300959 hasConcept C2779343474 @default.
- W2072300959 hasConcept C2780246931 @default.
- W2072300959 hasConcept C30481170 @default.
- W2072300959 hasConcept C35158069 @default.
- W2072300959 hasConcept C54355233 @default.
- W2072300959 hasConcept C86803240 @default.
- W2072300959 hasConceptScore W2072300959C104317684 @default.
- W2072300959 hasConceptScore W2072300959C148196450 @default.
- W2072300959 hasConceptScore W2072300959C151730666 @default.
- W2072300959 hasConceptScore W2072300959C169836425 @default.
- W2072300959 hasConceptScore W2072300959C2779343474 @default.
- W2072300959 hasConceptScore W2072300959C2780246931 @default.
- W2072300959 hasConceptScore W2072300959C30481170 @default.
- W2072300959 hasConceptScore W2072300959C35158069 @default.
- W2072300959 hasConceptScore W2072300959C54355233 @default.
- W2072300959 hasConceptScore W2072300959C86803240 @default.
- W2072300959 hasIssue "2" @default.
- W2072300959 hasLocation W20723009591 @default.
- W2072300959 hasLocation W20723009592 @default.
- W2072300959 hasOpenAccess W2072300959 @default.
- W2072300959 hasPrimaryLocation W20723009591 @default.
- W2072300959 hasRelatedWork W1924069948 @default.
- W2072300959 hasRelatedWork W2009715519 @default.
- W2072300959 hasRelatedWork W2017011542 @default.
- W2072300959 hasRelatedWork W2036780409 @default.
- W2072300959 hasRelatedWork W2075666496 @default.
- W2072300959 hasRelatedWork W2215305983 @default.
- W2072300959 hasRelatedWork W2229304181 @default.
- W2072300959 hasRelatedWork W2308736777 @default.
- W2072300959 hasRelatedWork W2411402532 @default.
- W2072300959 hasRelatedWork W4313382710 @default.
- W2072300959 hasVolume "96" @default.
- W2072300959 isParatext "false" @default.
- W2072300959 isRetracted "false" @default.
- W2072300959 magId "2072300959" @default.
- W2072300959 workType "article" @default.