About: Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

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About: Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays Goto Sponge NotDistinct Permalink

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scientific article published on 08 February 2019

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rdf:type	Item
description	wetenschappelijk artikel (nl) article scientifique publié en 2019 (fr) artículu científicu espublizáu en febreru de 2019 (ast) scientific article published on 08 February 2019 (en) наукова стаття, опублікована 8 лютого 2019 (uk)
publication date	wds:Q91430023-524A594E-BEA4-4EE2-A1CB-44734D9253FD
publication date	2019-02-08 00:00:00Z (xsd:dateTime)
cites work	wds:Q91430023-058F738F-D66F-4A96-AD36-E4FFF957181C wds:Q91430023-14B70F16-B191-45D7-A8E4-C21367188882 wds:Q91430023-1CCC4E46-85D2-4BFD-B85F-659237A47518 wds:Q91430023-1E6C7C27-5619-4528-8B34-374C034017CA wds:Q91430023-2B0936F0-064F-49ED-949B-845A3104047F wds:Q91430023-34E46D31-F555-44DD-99BA-EF79F3D4CA58 wds:Q91430023-479450C8-0186-4E85-8189-553EEE148FEC wds:Q91430023-4C5DCEF8-EE34-4D1D-96D5-2F594444E823 wds:Q91430023-525306DA-E9BF-44FE-BD98-8BC853F53873 wds:Q91430023-568C096B-03FE-4A7B-A675-C67828523051 wds:Q91430023-6E7304DD-D127-434D-AFAE-74FEDC41E89A wds:Q91430023-7446A755-D5EB-44DB-992A-6C101668CD8A wds:Q91430023-8E8768F4-3743-4D51-93F0-EE6294BAEE31 wds:Q91430023-C47C0133-ED7A-4EE8-8CAF-EEBAE93477A5 wds:Q91430023-C4AB1DA5-9FFC-4695-8B8C-990DAFBB5276 wds:Q91430023-C7D0FA08-2CFE-45D3-9208-3F30A892B299 wds:Q91430023-D12C6FD7-CD3B-450D-9046-D47B2536A08D wds:Q91430023-E5C22F04-07F4-4EE2-8260-F695A78C8EB8 wds:Q91430023-F6FAF160-548B-4564-9429-CBA52BE5D723
cites work	Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations A survey of newborn screening for cystic fibrosis in Europe Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis Mosaicism and uniparental disomy in prenatal diagnosis How to describe the clinical spectrum in Pompe disease? Complex and segmental uniparental disomy updated Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: a new patient presenting with normal growth Mechanisms leading to uniparental disomy and their clinical consequences Diagnostic approaches to apparent homozygosity Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I. Complete FXN deletion in a patient with Friedreich's ataxia Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia major Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient. Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT. Cystic fibrosis and Silver-Russell syndrome due to a partial maternal isodisomy of chromosome 7. Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula
author name string	wds:Q91430023-0D9C0968-6B72-4C95-9473-C34546FE8A5E wds:Q91430023-1D98AE61-EF19-48A4-8AD1-F74FA37E8119 wds:Q91430023-28A41757-4103-45AC-9988-7830E3E3683E wds:Q91430023-2D60B340-0BB7-484D-9E90-B92E8A93D722 wds:Q91430023-4DA4F34F-E992-4D1C-8F17-B354D39190BC wds:Q91430023-5856EE93-F379-4AD9-B6D1-FB2774A4904B wds:Q91430023-5A77622B-44BA-4569-99FC-885D269DE7C8 wds:Q91430023-71D544EF-9B7F-47B8-A913-379C0514CB63 wds:Q91430023-88CD46E7-0AF7-496B-AE9B-904953AD3285 wds:Q91430023-B115A87B-810B-4B02-BFBE-E7447F483A0E wds:Q91430023-B1C94E30-F9D8-45CC-B423-46EE4B45C393 wds:Q91430023-B35EDD8E-3558-482F-BFCB-884990546C86 wds:Q91430023-C64A5BEA-952A-46E6-A96A-DC8D3AD4C7F9 wds:Q91430023-D009642D-EE6A-459A-AB53-B8E3459577AC wds:Q91430023-D7123878-AEAA-4B94-8834-863A4CA6B7E9 wds:Q91430023-DBEE6966-38F0-435F-B61C-CCBEE3937F77 wds:Q91430023-EBA7F6EA-6C4A-47D1-B4DF-3140DB8025B9 wds:Q91430023-F05D52E8-1A41-43F8-83A5-7C990EC9B6D3
author name string	Ans T van der Ploeg Lies H Hoefsloot Marian A Kroos Dicky J Halley Helen Michelakakis Stijn L M In 't Groen W W M Pim Pijnappel Trijnie Dijkhuizen Irene Mavridou Marianne Hoogeveen-Westerveld Marloes Benjamins Frans W Verheijen Ineke Labrijn-Marks Karin Naess Sirpa Ala-Mello Clara Sa Miranda Galhana M Somers-Bolman Hannerieke J M van den Hout
rdfs:label	Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays (en) Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays (nl)
skos:prefLabel	Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays (en) Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays (nl)
name	Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays (en) Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays (nl)
author	wds:Q91430023-25DD1427-B9DA-42B2-A141-54B28CC06E7B wds:Q91430023-B55A068E-AC76-4A76-9493-7B3DD5C9F5CD
author	Olga Amaral Jasper J. Saris
title	wds:Q91430023-4531582A-495A-4FED-86FA-63C1349C0659
title	Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays (en)
page(s)	wds:Q91430023-B63F3C65-5F6C-444D-A861-4DCD1F7C8688
page(s)	919-927
instance of	wds:Q91430023-405D4734-9049-420F-8D48-0EA2FBC3155B
instance of	scholarly article
main subject	wds:Q91430023-E727913B-FD71-4436-A86C-21BDBD8AD01A
main subject	Isodisomy

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