About: Segregation of the V804L mutation and S836S polymorphism of exon 14 of the RET gene in an extended kindred with familial medullary thyroid cancer

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About: Segregation of the V804L mutation and S836S polymorphism of exon 14 of the RET gene in an extended kindred with familial medullary thyroid cancer Goto Sponge NotDistinct Permalink

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scientific article published on 01 March 2003

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в березні 2003 (uk) im März 2003 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en marzu de 2003 (ast) scientific article published on 01 March 2003 (en)
publication date	wds:Q73267686-B65F7D8B-28CC-4DAE-AF4C-A43E7273677F
publication date	2003-03-01 00:00:00Z (xsd:dateTime)
cites work	wds:Q73267686-0E7588D9-6991-433F-868C-60C335F93A66 wds:Q73267686-10FE365F-E238-470F-8C8A-8AE09509EAA1 wds:Q73267686-17D1E9C1-8268-41D1-A2F4-E5DCEFDD432C wds:Q73267686-1F67F492-C7B0-419A-BE96-7030B5607745 wds:Q73267686-1FDEE4CB-4577-4F0F-B3AD-9F1AFE6271CD wds:Q73267686-21E75EE8-B708-432F-9E74-8805F2B90128 wds:Q73267686-369E272F-9FF9-4D11-A2C3-DFA5453310DC wds:Q73267686-540040BC-31AC-414D-AEAE-43433B35D322 wds:Q73267686-567FBA98-3E73-46B3-BCB7-AFBF1F619DFF wds:Q73267686-73F17455-FAE1-4E6D-B857-6FE3614A499B wds:Q73267686-A3AA274D-557F-4E77-810C-A9523D543A54 wds:Q73267686-A77A26DD-CF53-4C8C-ADBA-8D2BC0ABE80E wds:Q73267686-B97301FA-5311-46D7-823A-631CADF9960C wds:Q73267686-D255EDA5-0EAF-4FAA-84FA-149D79F0DEA3 wds:Q73267686-DBCB7186-58E1-465C-833D-F4C776C64751 wds:Q73267686-DD955D8E-4FCA-4023-B5E5-E8C5E2100359 wds:Q73267686-EABF36F8-17D3-472E-9DB8-5F55AA3D6343 wds:Q73267686-ED7C8AB3-5AC0-4F17-9C5E-D560E68193D1 wds:Q73267686-F07AFC0D-F095-4CE2-BA3E-AAE860912CA0
cites work	Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage Update on the MEN 2A c804 RET mutation: is prophylactic thyroidectomy indicated? Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation Mutation of RET codon 768 is associated with the FMTC phenotype Distinction between sporadic and hereditary medullary thyroid carcinoma (MTC) by mutation analysis of the RET proto-oncogene. "Study Group Multiple Endocrine Neoplasia Austria (SMENA)". A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis Molecular genetic diagnostic program of multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma syndromes in Hungary Adrenal and extra-adrenal pheochromocytomas in a family with germline RET V804L mutation Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG-->ATG) mutation A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma Familial medullary thyroid carcinoma: presymptomatic diagnosis and management in children
author name string	wds:Q73267686-0FFCAFF5-22A3-41ED-9A75-C4A98C6AA84E wds:Q73267686-55EC146D-DA03-4A4C-9949-335780F60E54 wds:Q73267686-5C71BB3A-8593-4821-A5C4-226042D30F28 wds:Q73267686-6630A022-F8C7-4D77-845C-A1A67035DF4F wds:Q73267686-AA388CF3-C4D3-4629-8955-DCDB68D1BA8F wds:Q73267686-ED9FCD1D-4805-4B01-B9EE-586CD9444622
author name string	I Varga M Tóth K Balogh A Patócs Z Valkusz K Rácz
rdfs:label	Segregation of the V804L mutation and S836S polymorphism of exon 14 of the RET gene in an extended kindred with familial medullary thyroid cancer (en) Segregation of the V804L mutation and S836S polymorphism of exon 14 of the RET gene in an extended kindred with familial medullary thyroid cancer (nl)
skos:prefLabel	Segregation of the V804L mutation and S836S polymorphism of exon 14 of the RET gene in an extended kindred with familial medullary thyroid cancer (en) Segregation of the V804L mutation and S836S polymorphism of exon 14 of the RET gene in an extended kindred with familial medullary thyroid cancer (nl)
name	Segregation of the V804L mutation and S836S polymorphism of exon 14 of the RET gene in an extended kindred with familial medullary thyroid cancer (en) Segregation of the V804L mutation and S836S polymorphism of exon 14 of the RET gene in an extended kindred with familial medullary thyroid cancer (nl)
author	wds:Q73267686-C07ED44D-4BA2-4C07-A935-2E83A603A4F9
author	Peter Igaz
title	wds:Q73267686-45BC2B17-E5A0-4F22-91CD-AC4AB8EDD40E
title	Segregation of the V804L mutation and S836S polymorphism of exon 14 of the RET gene in an extended kindred with familial medullary thyroid cancer (en)
page(s)	wds:Q73267686-35996138-ADC0-4FC1-A099-D4E0C7B464FD
page(s)	219-223
instance of	wds:Q73267686-208B6DB7-2BC8-4C7D-9B01-AC218412B9A2
instance of	scholarly article
main subject	wds:Q73267686-0506F89C-592F-4019-B6BA-1B16B4ABD537
main subject	thyroid cancer
PubMed ID	wds:Q73267686-023CADE6-C3C1-4DAC-AD1A-7C662E48C00C
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/12694233
PubMed ID	12694233
published in	wds:Q73267686-5FFEEC2F-921A-4890-BDFB-4F0E7F3ECEB5
published in	Clinical Genetics
issue	wds:Q73267686-E6D840DB-37CD-4556-B464-DA5D46CDC830
volume	wds:Q73267686-AEC31736-53D7-4F36-B055-C37101215A9E
issue	3
volume	63
DOI	wds:Q73267686-13BF1EF4-3185-428D-AF50-AEBA7BDDA64B
DOI	http://dx.doi.org/10.1034/J.1399-0004.2003.00044.X
DOI	10.1034/J.1399-0004.2003.00044.X
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q73267686
is cites work of	Somatic VHL gene alterations in MEN2-associated medullary thyroid carcinoma Genotype-phenotype correlations in Hungarian patients with hereditary medullary thyroid cancer. The frequency of selected polymorphic variants of the RET gene in patients with medullary thyroid carcinoma and in the general population of central Poland. Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome
is cites work of	wds:Q51936760-6C0282C2-3559-412D-81B8-7E9F1C20AF54 wds:Q35895514-D7A53E0B-86D7-41B4-A843-609392F1007F wds:Q33243796-8CD0CA8F-5475-4161-B97E-DEADBB0D3D74 wds:Q54425556-662708E7-2540-4787-8E50-DA94F4492479

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