FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2014609594> ?p ?o ?g. }

• W2014609594 endingPage "388" @default.
• W2014609594 startingPage "383" @default.
• W2014609594 abstract "To investigate anticipation in proximal myotonic myopathy (PROMM).PROMM is a recently described autosomal dominantly inherited disorder similar to but distinct from myotonic dystrophy (DM). DM belongs to the group of inherited disorders with anticipation caused by an unstable trinucleotide repeat expansion. In PROMM, no mutation has been identified, although PROMM has recently been mapped to a gene locus on chromosome 3q.We investigated 10 German families with the PROMM phenotype and linkage to chromosome 3q. We based our analysis of anticipation on the age of disease onset. Anticipation was assumed if the offspring had first symptoms earlier in life than his or her affected parent. For statistical analysis Independence Estimating Equations (IEE) and a Monte-Carlo bootstrap were used.In 27 affected living parent-offspring pairs from these 10 families, the mean difference of disease onset was 18.8 years with either statistical analysis (p < 10-14 and p < 10-15). The mean disease onset interval in years was greater in father-offspring as compared to the mother-offspring pairs (p < 0.05; IEE).Our findings suggest the occurrence of anticipation in parent-offspring pairs from families with the PROMM phenotype and linkage to chromosome 3q. The different disease onset intervals in mother-offspring and father-offspring pairs could indicate a mild parent-of-origin effect. These observations are compatible with the suggestion that PROMM, like DM, may be a trinucleotide repeat associated disorder. In contrast to DM, anticipation in PROMM is milder, a congenital form does not seem to occur, and fertility does not appear to be affected." @default.
• W2014609594 created "2016-06-24" @default.
• W2014609594 creator A5023019774 @default.
• W2014609594 creator A5027976216 @default.
• W2014609594 creator A5031146052 @default.
• W2014609594 creator A5035620085 @default.
• W2014609594 creator A5039626163 @default.
• W2014609594 creator A5060649826 @default.
• W2014609594 creator A5061949117 @default.
• W2014609594 creator A5064508529 @default.
• W2014609594 creator A5072612171 @default.
• W2014609594 date "2000-08-08" @default.
• W2014609594 modified "2023-10-16" @default.
• W2014609594 title "Proximal myotonic myopathy: Evidence for anticipation in families with linkage to chromosome 3q" @default.
• W2014609594 cites W1544519062 @default.
• W2014609594 cites W1575708112 @default.
• W2014609594 cites W1970054094 @default.
• W2014609594 cites W1974277212 @default.
• W2014609594 cites W1981114890 @default.
• W2014609594 cites W1983049001 @default.
• W2014609594 cites W1989610239 @default.
• W2014609594 cites W1990078607 @default.
• W2014609594 cites W2011848608 @default.
• W2014609594 cites W2025277453 @default.
• W2014609594 cites W2042598469 @default.
• W2014609594 cites W2046977948 @default.
• W2014609594 cites W2047338785 @default.
• W2014609594 cites W2049172235 @default.
• W2014609594 cites W2059414610 @default.
• W2014609594 cites W2064283990 @default.
• W2014609594 cites W207415698 @default.
• W2014609594 cites W2081219383 @default.
• W2014609594 cites W2084548137 @default.
• W2014609594 cites W2087814712 @default.
• W2014609594 cites W2110236729 @default.
• W2014609594 cites W2128322011 @default.
• W2014609594 cites W2131655150 @default.
• W2014609594 cites W2132396002 @default.
• W2014609594 cites W2151703885 @default.
• W2014609594 cites W2159880072 @default.
• W2014609594 doi "https://doi.org/10.1212/wnl.55.3.383" @default.
• W2014609594 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10932272" @default.
• W2014609594 hasPublicationYear "2000" @default.
• W2014609594 type Work @default.
• W2014609594 sameAs 2014609594 @default.
• W2014609594 citedByCount "49" @default.
• W2014609594 countsByYear W20146095942012 @default.
• W2014609594 countsByYear W20146095942013 @default.
• W2014609594 countsByYear W20146095942014 @default.
• W2014609594 countsByYear W20146095942015 @default.
• W2014609594 countsByYear W20146095942017 @default.
• W2014609594 countsByYear W20146095942018 @default.
• W2014609594 countsByYear W20146095942020 @default.
• W2014609594 countsByYear W20146095942022 @default.
• W2014609594 countsByYear W20146095942023 @default.
• W2014609594 crossrefType "journal-article" @default.
• W2014609594 hasAuthorship W2014609594A5023019774 @default.
• W2014609594 hasAuthorship W2014609594A5027976216 @default.
• W2014609594 hasAuthorship W2014609594A5031146052 @default.
• W2014609594 hasAuthorship W2014609594A5035620085 @default.
• W2014609594 hasAuthorship W2014609594A5039626163 @default.
• W2014609594 hasAuthorship W2014609594A5060649826 @default.
• W2014609594 hasAuthorship W2014609594A5061949117 @default.
• W2014609594 hasAuthorship W2014609594A5064508529 @default.
• W2014609594 hasAuthorship W2014609594A5072612171 @default.
• W2014609594 hasConcept C104317684 @default.
• W2014609594 hasConcept C112672928 @default.
• W2014609594 hasConcept C126322002 @default.
• W2014609594 hasConcept C142870003 @default.
• W2014609594 hasConcept C154945302 @default.
• W2014609594 hasConcept C166252455 @default.
• W2014609594 hasConcept C176777502 @default.
• W2014609594 hasConcept C180754005 @default.
• W2014609594 hasConcept C2777767895 @default.
• W2014609594 hasConcept C2778063965 @default.
• W2014609594 hasConcept C2779134260 @default.
• W2014609594 hasConcept C2779234561 @default.
• W2014609594 hasConcept C2780304057 @default.
• W2014609594 hasConcept C41008148 @default.
• W2014609594 hasConcept C54355233 @default.
• W2014609594 hasConcept C71924100 @default.
• W2014609594 hasConcept C84597430 @default.
• W2014609594 hasConcept C86803240 @default.
• W2014609594 hasConceptScore W2014609594C104317684 @default.
• W2014609594 hasConceptScore W2014609594C112672928 @default.
• W2014609594 hasConceptScore W2014609594C126322002 @default.
• W2014609594 hasConceptScore W2014609594C142870003 @default.
• W2014609594 hasConceptScore W2014609594C154945302 @default.
• W2014609594 hasConceptScore W2014609594C166252455 @default.
• W2014609594 hasConceptScore W2014609594C176777502 @default.
• W2014609594 hasConceptScore W2014609594C180754005 @default.
• W2014609594 hasConceptScore W2014609594C2777767895 @default.
• W2014609594 hasConceptScore W2014609594C2778063965 @default.
• W2014609594 hasConceptScore W2014609594C2779134260 @default.
• W2014609594 hasConceptScore W2014609594C2779234561 @default.
• W2014609594 hasConceptScore W2014609594C2780304057 @default.
• W2014609594 hasConceptScore W2014609594C41008148 @default.
• W2014609594 hasConceptScore W2014609594C54355233 @default.

• next