Matches in SemOpenAlex for { <https://semopenalex.org/work/W1992098170> ?p ?o ?g. }
- W1992098170 endingPage "300" @default.
- W1992098170 startingPage "295" @default.
- W1992098170 abstract "We have investigated a family with one child affected with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Prenatal determination of 17-α hydroxyprogesterone (17OHP) in amniotic fluid (AF) and HLA typing of amniotic fibroblasts from a pregnancy at risk showed that the fetus was not affected. A healthy cousin with HLA haplotypes identical to those of the proposita (only one being identical by descent) had a normal plasma level of 17OHP. The prenatal diagnosis of a fetus affected with 21-hydroxylase deficiency CAH may be established by the determination of 17OHP in AF. This is a relatively quick procedure that can be confirmed by the HLA genotype, and is mandatory in families with a parent homozygous for an HLA haplotype and in certain recombinant haplotypes in the fetus." @default.
- W1992098170 created "2016-06-24" @default.
- W1992098170 creator A5015397357 @default.
- W1992098170 creator A5022065333 @default.
- W1992098170 creator A5036020381 @default.
- W1992098170 creator A5045034101 @default.
- W1992098170 creator A5082472879 @default.
- W1992098170 date "1980-01-01" @default.
- W1992098170 modified "2023-09-27" @default.
- W1992098170 title "Amniotic 17-α hydroxyprogesterone and HLA typing for the prenatal diagnosis of 21-α hydroxylase deficiency — congenital adrenal hyperplasia" @default.
- W1992098170 cites W1709295566 @default.
- W1992098170 cites W1978652940 @default.
- W1992098170 cites W1985647755 @default.
- W1992098170 cites W1992255305 @default.
- W1992098170 cites W1997474892 @default.
- W1992098170 cites W2011936248 @default.
- W1992098170 cites W2023471452 @default.
- W1992098170 cites W2025783865 @default.
- W1992098170 cites W2041141403 @default.
- W1992098170 cites W2050915506 @default.
- W1992098170 cites W2051233401 @default.
- W1992098170 cites W2054888013 @default.
- W1992098170 cites W2061859379 @default.
- W1992098170 cites W2065244867 @default.
- W1992098170 cites W2134898993 @default.
- W1992098170 cites W2187142580 @default.
- W1992098170 doi "https://doi.org/10.1002/ajmg.1320060406" @default.
- W1992098170 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7211946" @default.
- W1992098170 hasPublicationYear "1980" @default.
- W1992098170 type Work @default.
- W1992098170 sameAs 1992098170 @default.
- W1992098170 citedByCount "12" @default.
- W1992098170 countsByYear W19920981702015 @default.
- W1992098170 crossrefType "journal-article" @default.
- W1992098170 hasAuthorship W1992098170A5015397357 @default.
- W1992098170 hasAuthorship W1992098170A5022065333 @default.
- W1992098170 hasAuthorship W1992098170A5036020381 @default.
- W1992098170 hasAuthorship W1992098170A5045034101 @default.
- W1992098170 hasAuthorship W1992098170A5082472879 @default.
- W1992098170 hasConcept C104317684 @default.
- W1992098170 hasConcept C126322002 @default.
- W1992098170 hasConcept C134018914 @default.
- W1992098170 hasConcept C135763542 @default.
- W1992098170 hasConcept C147483822 @default.
- W1992098170 hasConcept C172680121 @default.
- W1992098170 hasConcept C188280979 @default.
- W1992098170 hasConcept C197754878 @default.
- W1992098170 hasConcept C203014093 @default.
- W1992098170 hasConcept C2777767042 @default.
- W1992098170 hasConcept C2778194526 @default.
- W1992098170 hasConcept C2778258057 @default.
- W1992098170 hasConcept C2779234561 @default.
- W1992098170 hasConcept C2780321258 @default.
- W1992098170 hasConcept C2780902042 @default.
- W1992098170 hasConcept C2909158248 @default.
- W1992098170 hasConcept C54355233 @default.
- W1992098170 hasConcept C71315377 @default.
- W1992098170 hasConcept C71924100 @default.
- W1992098170 hasConcept C86803240 @default.
- W1992098170 hasConceptScore W1992098170C104317684 @default.
- W1992098170 hasConceptScore W1992098170C126322002 @default.
- W1992098170 hasConceptScore W1992098170C134018914 @default.
- W1992098170 hasConceptScore W1992098170C135763542 @default.
- W1992098170 hasConceptScore W1992098170C147483822 @default.
- W1992098170 hasConceptScore W1992098170C172680121 @default.
- W1992098170 hasConceptScore W1992098170C188280979 @default.
- W1992098170 hasConceptScore W1992098170C197754878 @default.
- W1992098170 hasConceptScore W1992098170C203014093 @default.
- W1992098170 hasConceptScore W1992098170C2777767042 @default.
- W1992098170 hasConceptScore W1992098170C2778194526 @default.
- W1992098170 hasConceptScore W1992098170C2778258057 @default.
- W1992098170 hasConceptScore W1992098170C2779234561 @default.
- W1992098170 hasConceptScore W1992098170C2780321258 @default.
- W1992098170 hasConceptScore W1992098170C2780902042 @default.
- W1992098170 hasConceptScore W1992098170C2909158248 @default.
- W1992098170 hasConceptScore W1992098170C54355233 @default.
- W1992098170 hasConceptScore W1992098170C71315377 @default.
- W1992098170 hasConceptScore W1992098170C71924100 @default.
- W1992098170 hasConceptScore W1992098170C86803240 @default.
- W1992098170 hasIssue "4" @default.
- W1992098170 hasLocation W19920981701 @default.
- W1992098170 hasLocation W19920981702 @default.
- W1992098170 hasOpenAccess W1992098170 @default.
- W1992098170 hasPrimaryLocation W19920981701 @default.
- W1992098170 hasRelatedWork W1992098170 @default.
- W1992098170 hasRelatedWork W1999127339 @default.
- W1992098170 hasRelatedWork W2026664665 @default.
- W1992098170 hasRelatedWork W2046281962 @default.
- W1992098170 hasRelatedWork W2136275852 @default.
- W1992098170 hasRelatedWork W2155606455 @default.
- W1992098170 hasRelatedWork W2171220039 @default.
- W1992098170 hasRelatedWork W2424307705 @default.
- W1992098170 hasRelatedWork W2463306983 @default.
- W1992098170 hasRelatedWork W30854099 @default.
- W1992098170 hasVolume "6" @default.
- W1992098170 isParatext "false" @default.
- W1992098170 isRetracted "false" @default.
- W1992098170 magId "1992098170" @default.