FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2099934811> ?p ?o ?g. }

• W2099934811 endingPage "483" @default.
• W2099934811 startingPage "478" @default.
• W2099934811 abstract "Rafiq MA, Ansar M, Marshall CR, Noor A, Shaheen N, Mowjoodi A, Khan MA, Ali G, Amin-ud-Din M, Feuk L, Vincent JB, Scherer SW. Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan. To date, of 13 loci with linkage to non-syndromic autosomal recessive mental retardation (NS-ARMR), only six genes have been established with associated mutations. Here we present our study on NS-ARMR among the Pakistani population, where people are traditionally bound to marry within the family or the wider clan. In an exceptional, far-reaching genetic survey we have collected more than 50 consanguineous families exhibiting clinical symptoms/phenotypes of NS-ARMR. In the first step, nine families (MR2-9 and MR11) with multiple affected individuals were selected for molecular genetic studies. Two families (MR3, MR4) showed linkage to already know NS-ARMR loci. Fifteen affected and 10 unaffected individuals from six (MR2, MR6, MR7, MR8, MR9 and MR11) families were genotyped by using Affymetrix 5.0 or 6.0 single-nucleotide polymorphism (SNP) microarrays. SNP microarray data was visually inspected by dChip and genome-wide homozygosity analysis was performed by HomozygosityMapper. Additional mapping was performed (to exclude false-positive regions of homozygosity called by HomozygosityMapper and dChip) on all available affected and unaffected members in seven NS-ARMR families, using microsatellite markers. In this manner we were able to map three novel loci in seven different families originating from different areas of Pakistan. Two families (MR2, MR5) showed linkage on chromosome 2p25.3-p25.2. Three families (MR7, MR8, and MR9) that have been collected from the same village and belong to the same clan were mapped on chromosome 9q34.3. MR11 maps to a locus on 9p23-p13.3. Analysis of MR6 showed two positive loci, on chromosome 1q23.2-q23.3 and 8q24.21-q24.23. Genotyping in additional family members has so far narrowed, but not excluded the 1q locus. In summary, through this study we have identified three new loci for NS-ARMR, namely MRT14, 15 and 16." @default.
• W2099934811 created "2016-06-24" @default.
• W2099934811 creator A5028588180 @default.
• W2099934811 creator A5033609950 @default.
• W2099934811 creator A5034509669 @default.
• W2099934811 creator A5034713514 @default.
• W2099934811 creator A5036637906 @default.
• W2099934811 creator A5040384236 @default.
• W2099934811 creator A5049296994 @default.
• W2099934811 creator A5055989261 @default.
• W2099934811 creator A5056517039 @default.
• W2099934811 creator A5057232191 @default.
• W2099934811 creator A5069143194 @default.
• W2099934811 creator A5085114591 @default.
• W2099934811 date "2010-02-23" @default.
• W2099934811 modified "2023-10-17" @default.
• W2099934811 title "Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan" @default.
• W2099934811 cites W1563991125 @default.
• W2099934811 cites W1981397708 @default.
• W2099934811 cites W1984508337 @default.
• W2099934811 cites W1997792407 @default.
• W2099934811 cites W1998228863 @default.
• W2099934811 cites W2002000918 @default.
• W2099934811 cites W2005550122 @default.
• W2099934811 cites W2009872324 @default.
• W2099934811 cites W2010270082 @default.
• W2099934811 cites W2015720706 @default.
• W2099934811 cites W2017807118 @default.
• W2099934811 cites W2037352026 @default.
• W2099934811 cites W2039507753 @default.
• W2099934811 cites W2059826926 @default.
• W2099934811 cites W2071828654 @default.
• W2099934811 cites W2072038834 @default.
• W2099934811 cites W2074078425 @default.
• W2099934811 cites W2074798293 @default.
• W2099934811 cites W2093599260 @default.
• W2099934811 cites W2101177856 @default.
• W2099934811 cites W2103031990 @default.
• W2099934811 cites W2105306382 @default.
• W2099934811 cites W2109555487 @default.
• W2099934811 cites W2114360276 @default.
• W2099934811 cites W2119601553 @default.
• W2099934811 cites W2127835108 @default.
• W2099934811 cites W2130551481 @default.
• W2099934811 cites W2131114792 @default.
• W2099934811 cites W2145138789 @default.
• W2099934811 cites W2152602253 @default.
• W2099934811 cites W2290802694 @default.
• W2099934811 doi "https://doi.org/10.1111/j.1399-0004.2010.01405.x" @default.
• W2099934811 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20345473" @default.
• W2099934811 hasPublicationYear "2010" @default.
• W2099934811 type Work @default.
• W2099934811 sameAs 2099934811 @default.
• W2099934811 citedByCount "20" @default.
• W2099934811 countsByYear W20999348112012 @default.
• W2099934811 countsByYear W20999348112013 @default.
• W2099934811 countsByYear W20999348112014 @default.
• W2099934811 countsByYear W20999348112016 @default.
• W2099934811 countsByYear W20999348112017 @default.
• W2099934811 countsByYear W20999348112018 @default.
• W2099934811 countsByYear W20999348112023 @default.
• W2099934811 crossrefType "journal-article" @default.
• W2099934811 hasAuthorship W2099934811A5028588180 @default.
• W2099934811 hasAuthorship W2099934811A5033609950 @default.
• W2099934811 hasAuthorship W2099934811A5034509669 @default.
• W2099934811 hasAuthorship W2099934811A5034713514 @default.
• W2099934811 hasAuthorship W2099934811A5036637906 @default.
• W2099934811 hasAuthorship W2099934811A5040384236 @default.
• W2099934811 hasAuthorship W2099934811A5049296994 @default.
• W2099934811 hasAuthorship W2099934811A5055989261 @default.
• W2099934811 hasAuthorship W2099934811A5056517039 @default.
• W2099934811 hasAuthorship W2099934811A5057232191 @default.
• W2099934811 hasAuthorship W2099934811A5069143194 @default.
• W2099934811 hasAuthorship W2099934811A5085114591 @default.
• W2099934811 hasConcept C104317684 @default.
• W2099934811 hasConcept C122060243 @default.
• W2099934811 hasConcept C127716648 @default.
• W2099934811 hasConcept C130895681 @default.
• W2099934811 hasConcept C135763542 @default.
• W2099934811 hasConcept C142870003 @default.
• W2099934811 hasConcept C153209595 @default.
• W2099934811 hasConcept C16671776 @default.
• W2099934811 hasConcept C180754005 @default.
• W2099934811 hasConcept C2779923321 @default.
• W2099934811 hasConcept C2908647359 @default.
• W2099934811 hasConcept C54355233 @default.
• W2099934811 hasConcept C61320498 @default.
• W2099934811 hasConcept C71924100 @default.
• W2099934811 hasConcept C86803240 @default.
• W2099934811 hasConcept C99454951 @default.
• W2099934811 hasConceptScore W2099934811C104317684 @default.
• W2099934811 hasConceptScore W2099934811C122060243 @default.
• W2099934811 hasConceptScore W2099934811C127716648 @default.
• W2099934811 hasConceptScore W2099934811C130895681 @default.
• W2099934811 hasConceptScore W2099934811C135763542 @default.
• W2099934811 hasConceptScore W2099934811C142870003 @default.
• W2099934811 hasConceptScore W2099934811C153209595 @default.
• W2099934811 hasConceptScore W2099934811C16671776 @default.

• next