Matches in SemOpenAlex for { <https://semopenalex.org/work/W2187589360> ?p ?o ?g. }
Showing items 1 to 82 of
82
with 100 items per page.
- W2187589360 endingPage "137" @default.
- W2187589360 startingPage "133" @default.
- W2187589360 abstract "Four hundred families affected with Retinitis Pigmentosa (RP), from 16 different states of India were analysed to ascertain segregation pattern of RP and to study the association of clinical variables like “age of onset” and “rate of progression” with the different clinical subtypes of RP. Families were categorized on the basis of clinical types and inheritance pattern. Segregation analysis, based on the maximum likelihood estimate, was carried out on 426 sibships from 400 families. 75% of the cases were autosomal recessive (AR), 10% autosomal dominant (AD) and 1% X-linked. In the remaining 14%, the inheritance pattern was not clear. Segregation analysis of the sibship data showed good agreement with respect to the AR cases, with a segregation value of 0.23. Penetrance was relatively low (42%) in AD cases. Segregation analysis of AR cases, with the inclusion of simplex cases, indicated that these cases might be having an underlying recessive mode of inheritance. High frequency of recessive cases could be attributed to inbreeding and consanguinity in families. Statistically significant differences with respect to “age of onset” and “rate of progression” were observed among different clinical types of RP, which could be of importance in counseling." @default.
- W2187589360 created "2016-06-24" @default.
- W2187589360 creator A5006966482 @default.
- W2187589360 creator A5013150230 @default.
- W2187589360 creator A5052746457 @default.
- W2187589360 creator A5057304346 @default.
- W2187589360 creator A5062010372 @default.
- W2187589360 date "2001-06-01" @default.
- W2187589360 modified "2023-10-16" @default.
- W2187589360 title "Clinical Genetic Analysis of Retinitis Pigmentosa in Indian Population" @default.
- W2187589360 cites W1506748339 @default.
- W2187589360 cites W1525060699 @default.
- W2187589360 cites W1640114211 @default.
- W2187589360 cites W1982439021 @default.
- W2187589360 cites W1991678441 @default.
- W2187589360 cites W2006823323 @default.
- W2187589360 cites W2041058945 @default.
- W2187589360 cites W2057620101 @default.
- W2187589360 cites W2068504296 @default.
- W2187589360 cites W2095242545 @default.
- W2187589360 cites W2113576625 @default.
- W2187589360 cites W2114285916 @default.
- W2187589360 cites W2142246293 @default.
- W2187589360 cites W2143228649 @default.
- W2187589360 cites W2270268773 @default.
- W2187589360 cites W382550264 @default.
- W2187589360 doi "https://doi.org/10.1080/09723757.2001.11885748" @default.
- W2187589360 hasPublicationYear "2001" @default.
- W2187589360 type Work @default.
- W2187589360 sameAs 2187589360 @default.
- W2187589360 citedByCount "0" @default.
- W2187589360 crossrefType "journal-article" @default.
- W2187589360 hasAuthorship W2187589360A5006966482 @default.
- W2187589360 hasAuthorship W2187589360A5013150230 @default.
- W2187589360 hasAuthorship W2187589360A5052746457 @default.
- W2187589360 hasAuthorship W2187589360A5057304346 @default.
- W2187589360 hasAuthorship W2187589360A5062010372 @default.
- W2187589360 hasConcept C104317684 @default.
- W2187589360 hasConcept C127716648 @default.
- W2187589360 hasConcept C200544954 @default.
- W2187589360 hasConcept C2777782036 @default.
- W2187589360 hasConcept C2779923321 @default.
- W2187589360 hasConcept C2780902518 @default.
- W2187589360 hasConcept C2781114197 @default.
- W2187589360 hasConcept C2908647359 @default.
- W2187589360 hasConcept C54355233 @default.
- W2187589360 hasConcept C71924100 @default.
- W2187589360 hasConcept C86803240 @default.
- W2187589360 hasConcept C99454951 @default.
- W2187589360 hasConceptScore W2187589360C104317684 @default.
- W2187589360 hasConceptScore W2187589360C127716648 @default.
- W2187589360 hasConceptScore W2187589360C200544954 @default.
- W2187589360 hasConceptScore W2187589360C2777782036 @default.
- W2187589360 hasConceptScore W2187589360C2779923321 @default.
- W2187589360 hasConceptScore W2187589360C2780902518 @default.
- W2187589360 hasConceptScore W2187589360C2781114197 @default.
- W2187589360 hasConceptScore W2187589360C2908647359 @default.
- W2187589360 hasConceptScore W2187589360C54355233 @default.
- W2187589360 hasConceptScore W2187589360C71924100 @default.
- W2187589360 hasConceptScore W2187589360C86803240 @default.
- W2187589360 hasConceptScore W2187589360C99454951 @default.
- W2187589360 hasIssue "2" @default.
- W2187589360 hasLocation W21875893601 @default.
- W2187589360 hasOpenAccess W2187589360 @default.
- W2187589360 hasPrimaryLocation W21875893601 @default.
- W2187589360 hasRelatedWork W1987585879 @default.
- W2187589360 hasRelatedWork W2015091938 @default.
- W2187589360 hasRelatedWork W2061676234 @default.
- W2187589360 hasRelatedWork W2070653175 @default.
- W2187589360 hasRelatedWork W2117307980 @default.
- W2187589360 hasRelatedWork W2187589360 @default.
- W2187589360 hasRelatedWork W2296708716 @default.
- W2187589360 hasRelatedWork W2418178765 @default.
- W2187589360 hasRelatedWork W35209602 @default.
- W2187589360 hasRelatedWork W622889273 @default.
- W2187589360 hasVolume "1" @default.
- W2187589360 isParatext "false" @default.
- W2187589360 isRetracted "false" @default.
- W2187589360 magId "2187589360" @default.
- W2187589360 workType "article" @default.