Matches in SemOpenAlex for { <https://semopenalex.org/work/W2006701829> ?p ?o ?g. }
Showing items 1 to 91 of
91
with 100 items per page.
- W2006701829 endingPage "213" @default.
- W2006701829 startingPage "209" @default.
- W2006701829 abstract "1p36 deletion is the most common terminal deletion syndrome with an estimated occurrence of 1:5000 live births. The deletion is of variable size. It usually involves less than 10 Mb in the 1pter-1p36.23 interval. Variability of the phenotype is partially related to the extent of the deletion. Some children with a 1p36 deletion were reported with obesity and hyperphagia, raising the question of possible phenotypic overlap with Prader-Willi syndrome. Correlation between presence of obesity and the size of the deletion has only been documented in one case. We report a 11-year-old girl with 1p36 deletion and the classical dysmorphological features. In late infancy, she developed an uncontrolled voracious appetite, overweight, truncal obesity and elevated serum transaminases. Liver biopsy disclosed severe steatosis. The hepatocytes contained accumulation of lipofuscins. Lipolysosomes were abnormally numerous and extremely enlarged. These features have not been previously reported in 1p36 deletion. Oligonucleotide-based microarray analysis showed a subtelomeric 2.2 Mb deletion at 1p36.33p36.32. This suggests that this chromosome segment is a critical region for obesity and hyperphagia. The accumulation in the liver with abnormal ultrastructure may be an additional feature of this form of syndromal obesity. 1p36 deletion syndrome should be considered in patients with obesity, hyperphagia and liver fat accumulation." @default.
- W2006701829 created "2016-06-24" @default.
- W2006701829 creator A5000849025 @default.
- W2006701829 creator A5005136857 @default.
- W2006701829 creator A5051657629 @default.
- W2006701829 creator A5070769975 @default.
- W2006701829 date "2011-05-01" @default.
- W2006701829 modified "2023-09-29" @default.
- W2006701829 title "Severe lysosomal storage disease of liver in del(1)(p36): A new presentation" @default.
- W2006701829 cites W1967293756 @default.
- W2006701829 cites W1979393811 @default.
- W2006701829 cites W1983501716 @default.
- W2006701829 cites W1984847337 @default.
- W2006701829 cites W1984968028 @default.
- W2006701829 cites W1985236099 @default.
- W2006701829 cites W1991354972 @default.
- W2006701829 cites W1991942222 @default.
- W2006701829 cites W1994546336 @default.
- W2006701829 cites W2002935707 @default.
- W2006701829 cites W2026038046 @default.
- W2006701829 cites W2039531029 @default.
- W2006701829 cites W2046274848 @default.
- W2006701829 cites W2068620745 @default.
- W2006701829 cites W2069160510 @default.
- W2006701829 cites W2084166555 @default.
- W2006701829 cites W2090453008 @default.
- W2006701829 cites W2099065128 @default.
- W2006701829 cites W2118555914 @default.
- W2006701829 cites W2119026675 @default.
- W2006701829 cites W2132551387 @default.
- W2006701829 cites W2136448005 @default.
- W2006701829 cites W2160080592 @default.
- W2006701829 cites W2160215943 @default.
- W2006701829 cites W2169581180 @default.
- W2006701829 doi "https://doi.org/10.1016/j.ejmg.2010.11.012" @default.
- W2006701829 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21145995" @default.
- W2006701829 hasPublicationYear "2011" @default.
- W2006701829 type Work @default.
- W2006701829 sameAs 2006701829 @default.
- W2006701829 citedByCount "11" @default.
- W2006701829 countsByYear W20067018292012 @default.
- W2006701829 countsByYear W20067018292013 @default.
- W2006701829 countsByYear W20067018292014 @default.
- W2006701829 countsByYear W20067018292018 @default.
- W2006701829 countsByYear W20067018292020 @default.
- W2006701829 countsByYear W20067018292023 @default.
- W2006701829 crossrefType "journal-article" @default.
- W2006701829 hasAuthorship W2006701829A5000849025 @default.
- W2006701829 hasAuthorship W2006701829A5005136857 @default.
- W2006701829 hasAuthorship W2006701829A5051657629 @default.
- W2006701829 hasAuthorship W2006701829A5070769975 @default.
- W2006701829 hasConcept C104317684 @default.
- W2006701829 hasConcept C126322002 @default.
- W2006701829 hasConcept C127716648 @default.
- W2006701829 hasConcept C134018914 @default.
- W2006701829 hasConcept C2776175330 @default.
- W2006701829 hasConcept C511355011 @default.
- W2006701829 hasConcept C54355233 @default.
- W2006701829 hasConcept C71924100 @default.
- W2006701829 hasConcept C86803240 @default.
- W2006701829 hasConceptScore W2006701829C104317684 @default.
- W2006701829 hasConceptScore W2006701829C126322002 @default.
- W2006701829 hasConceptScore W2006701829C127716648 @default.
- W2006701829 hasConceptScore W2006701829C134018914 @default.
- W2006701829 hasConceptScore W2006701829C2776175330 @default.
- W2006701829 hasConceptScore W2006701829C511355011 @default.
- W2006701829 hasConceptScore W2006701829C54355233 @default.
- W2006701829 hasConceptScore W2006701829C71924100 @default.
- W2006701829 hasConceptScore W2006701829C86803240 @default.
- W2006701829 hasIssue "3" @default.
- W2006701829 hasLocation W20067018291 @default.
- W2006701829 hasLocation W20067018292 @default.
- W2006701829 hasOpenAccess W2006701829 @default.
- W2006701829 hasPrimaryLocation W20067018291 @default.
- W2006701829 hasRelatedWork W1973843004 @default.
- W2006701829 hasRelatedWork W2026143540 @default.
- W2006701829 hasRelatedWork W2032775519 @default.
- W2006701829 hasRelatedWork W2083652468 @default.
- W2006701829 hasRelatedWork W2125534085 @default.
- W2006701829 hasRelatedWork W2135369758 @default.
- W2006701829 hasRelatedWork W2797640654 @default.
- W2006701829 hasRelatedWork W3158316884 @default.
- W2006701829 hasRelatedWork W4366987516 @default.
- W2006701829 hasRelatedWork W4382133235 @default.
- W2006701829 hasVolume "54" @default.
- W2006701829 isParatext "false" @default.
- W2006701829 isRetracted "false" @default.
- W2006701829 magId "2006701829" @default.
- W2006701829 workType "article" @default.