About: Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma

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About: Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma Goto Sponge NotDistinct Permalink

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scientific article published on 01 September 1988

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована у вересні 1988 (uk) im September 1988 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en setiembre de 1988 (ast) scientific article published on 01 September 1988 (en)
publication date	wds:Q69923674-7242E4F7-C9C2-4EDF-B1E0-1101E19F39C0
publication date	1988-09-01 00:00:00Z (xsd:dateTime)
exact match	wds:Q69923674-212238E1-97E0-4E62-A724-955E5104018D
exact match	https://scigraph.springernature.com/pub.10.1007/bf00451453
cites work	wds:Q69923674-0B5D53F4-7041-46F6-9CB4-00B394A6C16E wds:Q69923674-0F22D2CE-7C91-4036-B7D2-44938C0512A5 wds:Q69923674-2182573C-850D-4FD8-B91A-D6F6C260B74B wds:Q69923674-3F99D69F-FABF-4528-B9B9-A54A848505D4 wds:Q69923674-4448A4D9-B3D5-4CE6-B602-142284C36F37 wds:Q69923674-462A7112-B51F-4AE3-AD52-FA10EAA6E8C6 wds:Q69923674-4BC164F2-E446-42E4-B1C7-67153A026DFE wds:Q69923674-5AEA4951-5293-4474-AFDE-8293D7498FCF wds:Q69923674-779938BE-DFA6-45E7-8449-EAE30FB3F513 wds:Q69923674-95775788-FD7B-4CC5-A99B-DF29D92EED8E wds:Q69923674-AD97AF47-BF72-4814-A8B5-0537272E009E wds:Q69923674-C5F46087-2AF7-4CBE-A9A4-F5873B559A5B wds:Q69923674-CB7F416D-5A66-4B72-BC06-4E0E2AF0C02E wds:Q69923674-DCBDCBC4-78CC-4D8D-8C81-9DFECC73F2AA wds:Q69923674-E1352658-1AB8-4DC9-8E1C-290AFF02ACE2 wds:Q69923674-E50D59E7-B9C8-4713-B067-D585879452A5 wds:Q69923674-E89A0E9E-55A1-4785-92EA-027BDC9C2013 wds:Q69923674-EFDC9A12-3C49-40DE-8940-F78F43A4729E wds:Q69923674-F5093788-6495-48EE-BDD0-449EAFCB0E27 wds:Q69923674-F882AF92-2393-45A3-BEF7-D0CBED52BB69
cites work	A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma Genetics of retinoblastoma Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14 Linkage of genes for human esterase D and hereditary retinoblastoma Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D Homozygosity of chromosome 13 in retinoblastoma Accuracy of detection of the retinoblastoma gene by esterase D linkage Familial, EsD-linked, retinoblastoma with reduced penetrance and variable expressivity. Mutation and cancer: statistical study of retinoblastoma Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3) The need to screen all retinoblastoma patients for esterase D activity: detection of submicroscopic chromosome deletions Cytogenetic forms of retinoblastoma: their incidence in a survey of 66 patients Consistent chromosome abnormalities associated with mouse bladder epithelial cell lines transformed in vitro Retinoma: spontaneous regression of retinoblastoma or benign manifestation of the mutation? An assessment of the usefulness of electrophoretic variants of esterase-D in the antenatal diagnosis of retinoblastoma in the United Kingdom Deletions of the esterase D locus from a survey of 200 retinoblastoma patients A chromosomal breakpoint that separates the esterase D and retinoblastoma predisposition loci in a patient with del(13)(q14q31). The genetics of retinoblastoma. Effect of the esterase-D phenotype on its in vitro enzyme activity
author name string	wds:Q69923674-0D039142-3ECD-4892-A02B-5C0F818526A4 wds:Q69923674-32813F2A-3258-4C3D-8C3F-242A99E1B03F wds:Q69923674-AF4C040D-F9DD-4601-A8B5-899305D0FE48 wds:Q69923674-CB9CE11B-8268-4F54-A5CC-6EC6E6CC0A0E
author name string	P Rutland M Jay J K Cowell J Hungerford
rdfs:label	Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma (en) Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma (nl)
skos:prefLabel	Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma (en) Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma (nl)
name	Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma (en) Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma (nl)
title	wds:Q69923674-1919119C-F5DF-4B74-AFCD-8CC04C21E233
title	Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma (en)
page(s)	wds:Q69923674-FE559C0A-98F6-4AA3-B905-1664E0080191
page(s)	43-45
instance of	wds:Q69923674-70A72161-8D12-4597-A392-370B3BF8C2AE
instance of	scholarly article
main subject	wds:Q69923674-8ADC446F-5359-4F8E-8C75-49209ACE847B
main subject	retinoblastoma
PubMed ID	wds:Q69923674-79C5D774-C7A2-4DF7-9535-91612D044D43
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/2901396
PubMed ID	2901396
published in	wds:Q69923674-E0612D08-034F-4977-AD1D-B2480FD1E574
published in	Human Genetics
issue	wds:Q69923674-B4DDF614-9384-4548-B69C-C52B62935E40
volume	wds:Q69923674-7176BB85-96CF-403B-8389-261B997B0C41
issue	1
volume	80
DOI	wds:Q69923674-E401A448-D8E6-4EB6-BD72-FD8966A086F5
DOI	http://dx.doi.org/10.1007/BF00451453
DOI	10.1007/BF00451453
Dimensions Publication ID	wds:Q69923674-59C06417-D0FF-4EA7-AC9E-1A3B17863D93
Dimensions Publication ID	1051155196
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q69923674
is cites work of	Directly transmitted unbalanced chromosome abnormalities and euchromatic variants Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance The genetics of retinoblastoma Follow-up of retinoblastoma patients having prenatal and perinatal predictions for mutant gene carrier status using intragenic polymorphic probes from the RB1 gene Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences. Trilateral retinoblastoma with an RB1 deletion inherited from a carrier mother: a case report
is cites work of	wds:Q35993026-679EAFED-6896-469D-B5C3-4960A1E81BCF wds:Q77747506-04BB4A3F-9452-423B-8F48-61B19139B082 wds:Q40453496-FFCA7E39-28EA-4DC0-B431-97684C6C3E76 wds:Q35448865-6F1EB30B-D7C7-41E0-A909-F813EFF68764 wds:Q33680868-44E717F4-3B32-452E-A428-3E7861A1A028 wds:Q70117697-45C15D16-C328-4385-A1A0-1863B42E8F98

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