FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2010267576> ?p ?o ?g. }

• W2010267576 endingPage "1037" @default.
• W2010267576 startingPage "1033" @default.
• W2010267576 abstract "Microdeletion of 22q11 is responsible for DiGeorge syndrome, velocardiofacial syndrome, congenital conotruncal heart defects, and related disorders. Familial transmission accounts for about 10–20 per cent of cases and most of the parents with deletions are nearly asymptomatic. This phenotypic variability makes it difficult to give appropriate genetic counselling. We report our experience on prenatal diagnosis of 22q11 deletion. We proposed prenatal detection of 22q11 microdeletion in 33 pregnancies. In two instances the parents refused prenatal diagnosis and one pregnancy ended spontaneously before the time of sampling. Fluorescent in situ hybridization (FISH) analysis on cultured amniotic cells with probes mapping in the commonly deleted region was used in the remaining 30 cases. Indications were classified into two groups. The first group included four couples with an abnormal family history of a deleted child and/or a deleted parent. No deletion was found in this group. The second one concerned pregnancies with a prenatally detected heart defect. Among these pregnancies with abnormal ultrasound findings, three deletions were found in the 26 samples tested. © 1997 John Wiley & Sons, Ltd." @default.
• W2010267576 created "2016-06-24" @default.
• W2010267576 creator A5021536861 @default.
• W2010267576 creator A5034765631 @default.
• W2010267576 creator A5040984132 @default.
• W2010267576 creator A5054508429 @default.
• W2010267576 date "1997-11-01" @default.
• W2010267576 modified "2023-09-23" @default.
• W2010267576 title "Prenatal diagnosis of 22q11 microdeletion" @default.
• W2010267576 cites W1971093835 @default.
• W2010267576 cites W1972568392 @default.
• W2010267576 cites W1976859904 @default.
• W2010267576 cites W1982366108 @default.
• W2010267576 cites W1993378290 @default.
• W2010267576 cites W1997489121 @default.
• W2010267576 cites W2001217125 @default.
• W2010267576 cites W2002991365 @default.
• W2010267576 cites W2011872927 @default.
• W2010267576 cites W2021106046 @default.
• W2010267576 cites W2021338904 @default.
• W2010267576 cites W2064608248 @default.
• W2010267576 cites W2077603707 @default.
• W2010267576 cites W2082590458 @default.
• W2010267576 cites W2087082685 @default.
• W2010267576 cites W2110527572 @default.
• W2010267576 cites W2110767100 @default.
• W2010267576 cites W2111346115 @default.
• W2010267576 cites W2111410367 @default.
• W2010267576 cites W2114381641 @default.
• W2010267576 cites W2159378378 @default.
• W2010267576 doi "https://doi.org/10.1002/(sici)1097-0223(199711)17:11<1033::aid-pd190>3.0.co;2-2" @default.
• W2010267576 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9399351" @default.
• W2010267576 hasPublicationYear "1997" @default.
• W2010267576 type Work @default.
• W2010267576 sameAs 2010267576 @default.
• W2010267576 citedByCount "19" @default.
• W2010267576 countsByYear W20102675762012 @default.
• W2010267576 countsByYear W20102675762014 @default.
• W2010267576 countsByYear W20102675762016 @default.
• W2010267576 crossrefType "journal-article" @default.
• W2010267576 hasAuthorship W2010267576A5021536861 @default.
• W2010267576 hasAuthorship W2010267576A5034765631 @default.
• W2010267576 hasAuthorship W2010267576A5040984132 @default.
• W2010267576 hasAuthorship W2010267576A5054508429 @default.
• W2010267576 hasConcept C104317684 @default.
• W2010267576 hasConcept C127716648 @default.
• W2010267576 hasConcept C131872663 @default.
• W2010267576 hasConcept C142724271 @default.
• W2010267576 hasConcept C172680121 @default.
• W2010267576 hasConcept C187212893 @default.
• W2010267576 hasConcept C2776555163 @default.
• W2010267576 hasConcept C2776984250 @default.
• W2010267576 hasConcept C2777542201 @default.
• W2010267576 hasConcept C2777910003 @default.
• W2010267576 hasConcept C2778258057 @default.
• W2010267576 hasConcept C2779234561 @default.
• W2010267576 hasConcept C2779688345 @default.
• W2010267576 hasConcept C2780074459 @default.
• W2010267576 hasConcept C2994486495 @default.
• W2010267576 hasConcept C30481170 @default.
• W2010267576 hasConcept C54355233 @default.
• W2010267576 hasConcept C71924100 @default.
• W2010267576 hasConcept C80227256 @default.
• W2010267576 hasConcept C86803240 @default.
• W2010267576 hasConceptScore W2010267576C104317684 @default.
• W2010267576 hasConceptScore W2010267576C127716648 @default.
• W2010267576 hasConceptScore W2010267576C131872663 @default.
• W2010267576 hasConceptScore W2010267576C142724271 @default.
• W2010267576 hasConceptScore W2010267576C172680121 @default.
• W2010267576 hasConceptScore W2010267576C187212893 @default.
• W2010267576 hasConceptScore W2010267576C2776555163 @default.
• W2010267576 hasConceptScore W2010267576C2776984250 @default.
• W2010267576 hasConceptScore W2010267576C2777542201 @default.
• W2010267576 hasConceptScore W2010267576C2777910003 @default.
• W2010267576 hasConceptScore W2010267576C2778258057 @default.
• W2010267576 hasConceptScore W2010267576C2779234561 @default.
• W2010267576 hasConceptScore W2010267576C2779688345 @default.
• W2010267576 hasConceptScore W2010267576C2780074459 @default.
• W2010267576 hasConceptScore W2010267576C2994486495 @default.
• W2010267576 hasConceptScore W2010267576C30481170 @default.
• W2010267576 hasConceptScore W2010267576C54355233 @default.
• W2010267576 hasConceptScore W2010267576C71924100 @default.
• W2010267576 hasConceptScore W2010267576C80227256 @default.
• W2010267576 hasConceptScore W2010267576C86803240 @default.
• W2010267576 hasIssue "11" @default.
• W2010267576 hasLocation W20102675761 @default.
• W2010267576 hasLocation W20102675762 @default.
• W2010267576 hasOpenAccess W2010267576 @default.
• W2010267576 hasPrimaryLocation W20102675761 @default.
• W2010267576 hasRelatedWork W2004082093 @default.
• W2010267576 hasRelatedWork W2010267576 @default.
• W2010267576 hasRelatedWork W2073027941 @default.
• W2010267576 hasRelatedWork W2116952599 @default.
• W2010267576 hasRelatedWork W2141691651 @default.
• W2010267576 hasRelatedWork W2161518264 @default.
• W2010267576 hasRelatedWork W2368136628 @default.
• W2010267576 hasRelatedWork W2416672645 @default.
• W2010267576 hasRelatedWork W2993413242 @default.

• next