UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population | Zendy

Pauline Romanet | Zendy; Amira Mohamed | Zendy; Sophie Giraud | Zendy; MarieFrançoise Odou | Zendy; Marie-Odile North | Zendy; Morgane Pertuit | Zendy; Éric Pasmant | Zendy; Lucie Coppin | Zendy; C Guien | Zendy; Alain Calender | Zendy; Françoise BorsonChazot | Zendy; Christophe Béroud | Zendy; Pierre Goudet | Zendy; Anne Barlier | Zendy

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UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population

Author(s) -

Pauline Romanet,

Amira Mohamed,

Sophie Giraud,

MarieFrançoise Odou,

Marie-Odile North,

Morgane Pertuit,

Éric Pasmant,

Lucie Coppin,

C Guien,

Alain Calender,

Françoise BorsonChazot,

Christophe Béroud,

Pierre Goudet,

Anne Barlier

Publication year - 2018

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2018-01170

Subject(s) - men1 , multiple endocrine neoplasia , penetrance , population , allele , locus (genetics) , missense mutation , genetics , biology , medicine , oncology , mutation , phenotype , gene , environmental health

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene characterized by a broad spectrum of clinical manifestations, of which the most frequent are primary hyperparathyroidism, pituitary adenomas, and neuroendocrine tumors.

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