Matches in SemOpenAlex for { <https://semopenalex.org/work/W2043407908> ?p ?o ?g. }
- W2043407908 abstract "Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurodevelopmental genetic disorders that map to 15q11-q13. The primary phenotypes are attributable to loss of expression of imprinted genes within this region which can arise by means of a number of mechanisms. The most sensitive single approach to diagnosing both PWS and AS is to study methylation patterns within 15q11-q13; however many techniques exist for this purpose. Given the diversity of techniques available, there is a need for consensus testing and reporting guidelines. Testing and reporting guidelines have been drawn up and agreed in accordance with the procedures of the UK Clinical Molecular Genetics Society and the European Molecular Genetics Quality Network. A practical set of molecular genetic testing and reporting guidelines has been developed for these two disorders. In addition, advice is given on appropriate reporting policies, including advice on test sensitivity and recurrence risks. In considering test sensitivity, the possibility of differential diagnoses is discussed. An agreed set of practice guidelines has been developed for the diagnostic molecular genetic testing of PWS and AS." @default.
- W2043407908 created "2016-06-24" @default.
- W2043407908 creator A5007273661 @default.
- W2043407908 creator A5055680235 @default.
- W2043407908 creator A5056744774 @default.
- W2043407908 creator A5070917769 @default.
- W2043407908 date "2010-05-11" @default.
- W2043407908 modified "2023-09-27" @default.
- W2043407908 title "Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes" @default.
- W2043407908 cites W120968873 @default.
- W2043407908 cites W1480433406 @default.
- W2043407908 cites W1964159332 @default.
- W2043407908 cites W1970202965 @default.
- W2043407908 cites W1972401591 @default.
- W2043407908 cites W1979293293 @default.
- W2043407908 cites W1981245085 @default.
- W2043407908 cites W1985718152 @default.
- W2043407908 cites W1989847991 @default.
- W2043407908 cites W1990104491 @default.
- W2043407908 cites W1990768780 @default.
- W2043407908 cites W1992577657 @default.
- W2043407908 cites W2000120778 @default.
- W2043407908 cites W2010043305 @default.
- W2043407908 cites W2013535026 @default.
- W2043407908 cites W2014534727 @default.
- W2043407908 cites W2017173296 @default.
- W2043407908 cites W2020369226 @default.
- W2043407908 cites W2021035407 @default.
- W2043407908 cites W2027161138 @default.
- W2043407908 cites W2032724829 @default.
- W2043407908 cites W2041623568 @default.
- W2043407908 cites W2049564791 @default.
- W2043407908 cites W2052881239 @default.
- W2043407908 cites W2055127681 @default.
- W2043407908 cites W2055949248 @default.
- W2043407908 cites W2058964935 @default.
- W2043407908 cites W2070766068 @default.
- W2043407908 cites W2075059777 @default.
- W2043407908 cites W2076479079 @default.
- W2043407908 cites W2078017786 @default.
- W2043407908 cites W2082506514 @default.
- W2043407908 cites W2086057123 @default.
- W2043407908 cites W2098923511 @default.
- W2043407908 cites W2105522795 @default.
- W2043407908 cites W2114424275 @default.
- W2043407908 cites W2114957217 @default.
- W2043407908 cites W2116283958 @default.
- W2043407908 cites W2118314203 @default.
- W2043407908 cites W2123038965 @default.
- W2043407908 cites W2129187190 @default.
- W2043407908 cites W2130680376 @default.
- W2043407908 cites W2168854455 @default.
- W2043407908 cites W2169243271 @default.
- W2043407908 cites W4239559091 @default.
- W2043407908 cites W4242613759 @default.
- W2043407908 cites W4253876192 @default.
- W2043407908 doi "https://doi.org/10.1186/1471-2350-11-70" @default.
- W2043407908 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2877670" @default.
- W2043407908 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20459762" @default.
- W2043407908 hasPublicationYear "2010" @default.
- W2043407908 type Work @default.
- W2043407908 sameAs 2043407908 @default.
- W2043407908 citedByCount "108" @default.
- W2043407908 countsByYear W20434079082012 @default.
- W2043407908 countsByYear W20434079082013 @default.
- W2043407908 countsByYear W20434079082014 @default.
- W2043407908 countsByYear W20434079082015 @default.
- W2043407908 countsByYear W20434079082016 @default.
- W2043407908 countsByYear W20434079082017 @default.
- W2043407908 countsByYear W20434079082018 @default.
- W2043407908 countsByYear W20434079082019 @default.
- W2043407908 countsByYear W20434079082020 @default.
- W2043407908 countsByYear W20434079082021 @default.
- W2043407908 countsByYear W20434079082022 @default.
- W2043407908 countsByYear W20434079082023 @default.
- W2043407908 crossrefType "journal-article" @default.
- W2043407908 hasAuthorship W2043407908A5007273661 @default.
- W2043407908 hasAuthorship W2043407908A5055680235 @default.
- W2043407908 hasAuthorship W2043407908A5056744774 @default.
- W2043407908 hasAuthorship W2043407908A5070917769 @default.
- W2043407908 hasBestOaLocation W20434079081 @default.
- W2043407908 hasConcept C104317684 @default.
- W2043407908 hasConcept C118552586 @default.
- W2043407908 hasConcept C142724271 @default.
- W2043407908 hasConcept C15744967 @default.
- W2043407908 hasConcept C174475383 @default.
- W2043407908 hasConcept C193820426 @default.
- W2043407908 hasConcept C204315192 @default.
- W2043407908 hasConcept C2778691456 @default.
- W2043407908 hasConcept C2780673598 @default.
- W2043407908 hasConcept C30481170 @default.
- W2043407908 hasConcept C47042493 @default.
- W2043407908 hasConcept C534262118 @default.
- W2043407908 hasConcept C54355233 @default.
- W2043407908 hasConcept C71924100 @default.
- W2043407908 hasConcept C80227256 @default.
- W2043407908 hasConcept C86803240 @default.
- W2043407908 hasConceptScore W2043407908C104317684 @default.
- W2043407908 hasConceptScore W2043407908C118552586 @default.
- W2043407908 hasConceptScore W2043407908C142724271 @default.