A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors.
about
Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implicationsDetecting low penetrance genes in cancer: the way ahead.Familial parathyroid carcinoma in a child.Hyperparathyroidism-jaw tumour syndrome.Menin missense mutants associated with multiple endocrine neoplasia type 1 are rapidly degraded via the ubiquitin-proteasome pathway.Variable clinical expression in patients with a germline MEN1 disease gene mutation: clues to a genotype-phenotype correlation.Identification of MEN1 gene mutations in families with MEN 1 and related disorders.Genetic basis of familial isolated hyperparathyroidism: a case series and a narrative review of the literature.Characterization of the MEN1 gene product, menin, by site-specific polyclonal antibodies.A novel germline mutation of MEN 1 gene in a patient with acromegaly and multiple endocrine tumors.HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach?Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition.Genome-wide allelotyping of 104 Finnish colorectal cancers reveals an excess of allelic imbalance in chromosome 20q in familial cases.Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms.Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism
P2860
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P2860
A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors.
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
1998年學術文章
@zh-hant
name
A family with isolated hyperpa ...... les in the parathyroid tumors.
@en
A family with isolated hyperpa ...... les in the parathyroid tumors.
@nl
type
label
A family with isolated hyperpa ...... les in the parathyroid tumors.
@en
A family with isolated hyperpa ...... les in the parathyroid tumors.
@nl
prefLabel
A family with isolated hyperpa ...... les in the parathyroid tumors.
@en
A family with isolated hyperpa ...... les in the parathyroid tumors.
@nl
P2093
P50
P356
P1476
A family with isolated hyperpa ...... les in the parathyroid tumors.
@en
P2093
Carmichael D
Grandell U
P304
P356
10.1086/302097
P407
P577
1998-11-01T00:00:00Z