Two germline missense mutations at codons 804 and 806 of the RET proto-oncogene in the same allele in a patient with multiple endocrine neoplasia type 2B without codon 918 mutation.
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RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma familyMolecular basis of medullary thyroid carcinoma: the role of RET polymorphismsMultiple endocrine neoplasia type 2: an overviewPaternal age effect mutations and selfish spermatogonial selection: causes and consequences for human diseaseHow to Assess the Clinical Relevance of Novel RET Missense Variants in the Absence of Functional Studies?Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an updateRET proto-oncogene mutations in thyroid carcinomas: clinical relevance.Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis.Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.Multiple endocrine neoplasia type 2.A Drosophila model of multiple endocrine neoplasia type 2.Tandem Germline RET Mutations in a Family Pathogenetic for Multiple Endocrine Neoplasia 2B, Confirmed by a Natural ExperimentRET proto-oncogene genotyping using unlabeled probes, the masking technique, and amplicon high-resolution melting analysis.Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases.Multiple endocrine neoplasias type 2B and RET proto-oncogene.The hamartomatous polyposis syndromes: a clinical and molecular review.Coexistence of Multiple Endocrine Neoplasia Type 2B and Chilaiditi Sign: A Case Report.RET receptor signaling: dysfunction in thyroid cancer and Hirschsprung's disease.A Case of medullary thyroid carcinoma with de novo V804M RET germline mutationThe optimal range of RET mutations to be tested: European comments to the guidelines of the American Thyroid Association.Advanced medullary thyroid cancer: pathophysiology and managementGenetics of the hamartomatous polyposis syndromes: a molecular review.RET codon 804 mutations in multiple endocrine neoplasia 2: genotype-phenotype correlations and implications in clinical management.Mendelian genetics of rare--and not so rare--cancers.How to Treat a Signal? Current Basis for RET-Genotype-Oriented Choice of Kinase Inhibitors for the Treatment of Medullary Thyroid CancerHereditary medullary thyroid carcinoma: the management dilemma.Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2.Novel tandem germline RET proto-oncogene mutations in a patient with multiple endocrine neoplasia type 2B: report of a case and a literature review of tandem RET mutations with in silico analysis.Multiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.Self-association of the transmembrane domain of RET underlies oncogenic activation by MEN2A mutations.Analysis of Newly Identified and Rare Synonymous Genetic Variants in the RET Gene in Patients with Medullary Thyroid Carcinoma in Polish Population.Multiple Endocrine Neoplasia Type 2B: Early Diagnosis by Multiple Mucosal Neuroma and Its DNA AnalysisGenetic and clinical features of multiple endocrine neoplasia types 1 and 2.Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations.Diversity of mutations in the RET proto-oncogene and its oncogenic mechanism in medullary thyroid cancer.Early diagnosis of multiple endocrine neoplasia type 2B: a challenge for physicians.Somatic mutations in RET exons 12 and 15 in sporadic medullary thyroid carcinomas: different spectrum of mutations in sporadic type from hereditary type.Loss-of-function mutations of SCN10A encoding NaV1.8 α subunit of voltage-gated sodium channel in patients with human kidney stone disease.Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes
P2860
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P2860
Two germline missense mutations at codons 804 and 806 of the RET proto-oncogene in the same allele in a patient with multiple endocrine neoplasia type 2B without codon 918 mutation.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh-hant
name
Two germline missense mutation ...... 2B without codon 918 mutation.
@en
Two germline missense mutation ...... 2B without codon 918 mutation.
@nl
type
label
Two germline missense mutation ...... 2B without codon 918 mutation.
@en
Two germline missense mutation ...... 2B without codon 918 mutation.
@nl
prefLabel
Two germline missense mutation ...... 2B without codon 918 mutation.
@en
Two germline missense mutation ...... 2B without codon 918 mutation.
@nl
P2093
P2860
P1476
Two germline missense mutation ...... 2B without codon 918 mutation.
@en
P2093
A Miyauchi
K Yamaguchi
T Yokozawa
P2860
P356
10.1111/J.1349-7006.1999.TB00658.X
P577
1999-01-01T00:00:00Z