Contribution of genetic analysis in screening for MEN1 among patients with sporadic disease and one or more typical manifestation (Q48082578)

8 February 2018

title

Contribution of genetic analysis in screening for MEN1 among patients with sporadic disease and one or more typical manifestation (English)

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8 February 2018

author name string

M-F Odou

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8 February 2018

C Cardot-Bauters

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M-C Vantyghem

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B Carnaille

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E Leteurtre

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P Pigny

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O Verier-Mine

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R Desailloud

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N Porchet

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publication date

1 December 2006

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8 February 2018

published in

Annales d'Endocrinologie

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8 February 2018

volume

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issue

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8 February 2018

page(s)

581-587

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8 February 2018

Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with a novel mutation of the MEN1 gene

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A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing

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The variable penetrance and spectrum of manifestations of multiple endocrine neoplasia type 1

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Positional cloning of the gene for multiple endocrine neoplasia-type 1

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Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis.

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Evaluation of denaturing high performance liquid chromatography for the mutational analysis of the MEN1 gene

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Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing

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Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.

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Prevalence of multiple endocrine neoplasia type 1 in young patients with apparently sporadic primary hyperparathyroidism or pancreaticoduodenal endocrine tumours

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Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma

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Menin interacting proteins as clues toward the understanding of multiple endocrine neoplasia type 1.

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Criteria for mutation analysis in MEN 1-suspected patients: MEN 1 case-finding

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The role of genetics in the surgical management of familial endocrinopathy syndromes

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Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1

7 January 2021

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Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.

7 January 2021

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Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications

7 January 2021

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10.1016/S0003-4266(06)73010-4

7 January 2021

Identifiers

DOI

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8 February 2018

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8 February 2018