A novel MEN1 intronic mutation associated with multiple endocrine neoplasia type 1.

A novel MEN1 intronic mutation associated with multiple endocrine neoplasia type 1.

OBJECTIVE: To investigate a family with an unusual combination of multiple endocrine neoplasia (MEN1) and the McCune-Albright syndrome for MEN1 mutations and activating GNAS1 mutations at codons Arg201 and Gln227. METHODS: DNA sequences analyses were performed of the MEN1 gene and codons Arg201 and...

Descripció completa

Dades bibliogràfiques
Autors principals:	Lemos, M, Harding, B, Shalet, S, Thakker, R
Format:	Journal article
Idioma:	English
Publicat:	2007

Ítems similars

Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.
per: Turner, J, et al.
Publicat: (2002)

Multiple endocrine neoplasia type 1 (MEN1).
per: Thakker, R
Publicat: (2010)

Multiple endocrine neoplasia type 1 (MEN1).
per: Pang, J, et al.
Publicat: (1994)

Clinical studies of multiple endocrine neoplasia type 1 (MEN1)
per: Trump, D, et al.
Publicat: (1996)

Proliferation rates of multiple endocrine neoplasia type 1 (MEN1)-associated tumors.
per: Walls, G, et al.
Publicat: (2012)

Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene.
per: Lemos, M, et al.
Publicat: (2008)

Studies of the murine homolog of the multiple endocrine neoplasia type 1 (MEN1) gene, men1.
per: Bassett, J, et al.
Publicat: (1999)

Multiple endocrine neoplasia type 1.
per: Thakker, R
Publicat: (2000)

Multiple endocrine neoplasia type 1
per: Thakker, R
Publicat: (1990)

Multiple endocrine neoplasia type 1
per: R V Thakker
Publicat: (2012-01-01)

Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.
per: Pannett, A, et al.
Publicat: (2003)

Multiple endocrine neoplasia type 1.
per: Pannett, A, et al.
Publicat: (1999)

Characterization of mutations in patients with multiple endocrine neoplasia type 1.
per: Bassett, J, et al.
Publicat: (1998)

Meta-analysis of 31 studies reporting 344 mutations in the multiple endocrine neoplasia type 1 (MEN1) gene.
per: Pannett, A, et al.
Publicat: (1999)

Role of multiple endocrine neoplasia type 1 mutational analysis in clinical practice.
per: Newey, P, et al.
Publicat: (2011)

Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1).
per: Thakker, R, et al.
Publicat: (2012)

Clinical studies of multiple endocrine neoplasia type 1 (MEN1) (vol 89, pg 653, 1996)
per: Trump, D, et al.
Publicat: (1996)

Exclusion of ZFM1 as a candidate gene for multiple endocrine neoplasia type 1 (MEN1).
per: Lloyd, SE, et al.
Publicat: (1997)

Corrigendum: Clinical studies of multiple endocrine neoplasia type 1 (MEN1) (Q J Med (1996) 89 (653-659))
per: Trump, D, et al.
Publicat: (1996)

Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1).
per: Turner, J, et al.
Publicat: (2010)

The role of molecular genetics in screening for multiple endocrine neoplasia type 1.
per: Thakker, R
Publicat: (1994)

Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1.
per: Lemmens, I, et al.
Publicat: (1997)

Multiple endocrine neoplasia
per: Thakker, R
Publicat: (2009)

Multiple endocrine neoplasia.
per: Thakker, R
Publicat: (2001)

Identification of the multiple endocrine neoplasia type 1 (MEN1) gene
per: Lemmens, I, et al.
Publicat: (1997)

Clinical case: multiple endocrine neoplasia type 1 (MEN 1)
Publicat: (2012-12-01)

Diagnosis and Management of Multiple Endocrine Neoplasia Type 1 (MEN1)
per: Dreijerink Koen MA, et al.
Publicat: (2005-02-01)

Breast cancer in multiple endocrine neoplasia type 1 (MEN1)
per: Seong Keat Cheah, et al.
Publicat: (2021-05-01)

Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene
per: Kamakari Smaragda, et al.
Publicat: (2011-01-01)

The European Consortium on MEN1 - Linkage disequilibrium studies in multiple endocrine neoplasia type 1 (MEN1)
per: Bassett, J, et al.
Publicat: (1997)

The European Consortium on MEN1. Linkage disequilibrium studies in multiple endocrine neoplasia type 1 (MEN1).
per: Bassett, J, et al.
Publicat: (1997)

Multiple endocrine neoplasia.
per: Thakker, R, et al.
Publicat: (1988)

MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 - GENETIC AND BIOCHEMICAL SCREENING OF A FAMILY
per: Jansen, S, et al.
Publicat: (1991)

Multiple endocrine neoplasia type 1 (MEN1) 5′UTR deletion, in MEN1 family, decreases menin expression
per: Kooblall, KG, et al.
Publicat: (2020)

Prolactinoma presenting in identical twins with multiple endocrine neoplasia type 1.
per: Flanagan, D, et al.
Publicat: (1996)

Multiple endocrine neoplasia type 1
per: Luzi Ettore, et al.
Publicat: (2006-10-01)

Molecular genetic mapping of the multiple endocrine neoplasia type 1 locus.
per: Pang, J, et al.
Publicat: (1992)

The molecular basis of parathyroid tumours in multiple endocrine neoplasia type 1
per: Thakker, R, et al.
Publicat: (1990)

Molecular genetics and patient management of multiple endocrine neoplasia type I
per: Thakker, R
Publicat: (2001)

Approach of Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome–Related Skin Tumors
per: Livia-Cristiana Băicoianu-Nițescu, et al.
Publicat: (2022-11-01)