Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.
about
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathyFamilial syndromes associated with neuroendocrine tumoursAltered MENIN expression disrupts the MAFA differentiation pathway in insulinomaAge-related penetrance of endocrine tumours in multiple endocrine neoplasia type 1 (MEN1): a multicentre study of 258 gene carriers.Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database.Italian Association of Clinical Endocrinologists (AME) position statement: a stepwise clinical approach to the diagnosis of gastroenteropancreatic neuroendocrine neoplasms.Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification.The UMD-p53 database: new mutations and analysis tools.MEN1 mutations in Hürthle cell (oncocytic) thyroid carcinomaRapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism.Prognostic role of the CDNK1B V109G polymorphism in multiple endocrine neoplasia type 1.Variable clinical expression in patients with a germline MEN1 disease gene mutation: clues to a genotype-phenotype correlation.Multiple Endocrine Neoplasia: Genetics and Clinical Management.Genetic testing in pheochromocytoma- and paraganglioma-associated syndromes.Multiple endocrine neoplasia type 1 with multiple leiomyomas linked to a novel mutation in the MEN1 geneCauses of death and prognostic factors in multiple endocrine neoplasia type 1: a prospective study: comparison of 106 MEN1/Zollinger-Ellison syndrome patients with 1613 literature MEN1 patients with or without pancreatic endocrine tumors.Gene mutations in Cushing's disease.Multiple endocrine neoplasia type 1 (MEN1): not only inherited endocrine tumors.Care for patients with multiple endocrine neoplasia type 1: the current evidence base.DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.Primary hyperparathyroidism in multiple endocrine neoplasia type 1: when to perform surgery?Molecular diagnosis of primary hyperparathyroidism in familial cancer syndromes.Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1.Genetic and epigenetic analysis in korean patients with multiple endocrine neoplasia type 1.Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.Long-term outcomes in patients with multiple endocrine neoplasia type 1 and pancreaticoduodenal neuroendocrine tumours.Missense mutation in the MEN1 gene discovered through whole exome sequencing co-segregates with familial hyperparathyroidism.New splicing mutation of MEN1 gene affecting the translocation of menin to the nucleus.Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms.
P2860
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P2860
Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
Germline mutation profile of M ...... l domains of the MEN1 protein.
@en
Germline mutation profile of M ...... l domains of the MEN1 protein.
@nl
type
label
Germline mutation profile of M ...... l domains of the MEN1 protein.
@en
Germline mutation profile of M ...... l domains of the MEN1 protein.
@nl
prefLabel
Germline mutation profile of M ...... l domains of the MEN1 protein.
@en
Germline mutation profile of M ...... l domains of the MEN1 protein.
@nl
P2093
P2860
P356
P1433
P1476
Germline mutation profile of M ...... l domains of the MEN1 protein.
@en
P2093
Alain Calender
Béatrice Chambe
Chang X Zhang
Cécile Vercherat
Gilbert M Lenoir
James Lespinasse
Martine Cordier
Nicole Porchet
Virginie Wautot
P2860
P356
10.1002/HUMU.10092
P50
P577
2002-07-01T00:00:00Z