Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.F553insFs
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MEN1

NM_001370259.2:p.F553insFs

Associated Papers

Approach of Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome-Related Skin Tumors.

Băicoianu-Nițescu LC et al.

Diagnostics (basel, Switzerland), 2022

A somatic mutation in MEN1 gene detected in periventricular nodular heterotopia tissue obtained from depth electrodes.

Montier L et al.

Epilepsia, 2019

31489630 (PubMed )
Supplement: EPI-60-e104-s006.docx

Novel Mutations in Serbian MEN1 Patients: Genotype-phenotype Correlation.

Isailovic T et al.

Journal of Medical Biochemistry, 2019

Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition.

Vierimaa O et al.

Journal of Endocrinological Investigation, 2009

Multiple endocrine neoplasia type 1 in Brazil: MEN1 founding mutation, clinical features, and bone mineral density profile.

Lourenço DM et al.

European Journal of Endocrinology, 2008

Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype phenotype correlation.

Vierimaa O et al.

European Journal of Endocrinology, 2007

Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism.

Howell VM et al.

The Journal of Molecular Diagnostics : Jmd, 2006

Characteristics of the Danish families with multiple endocrine neoplasia type 1.

Jäger AC et al.

Molecular and Cellular Endocrinology, 2006

Thymic carcinoid in multiple endocrine neoplasia 1: genotype-phenotype correlation and prevention.

Lim LC et al.

Journal of Internal Medicine, 2006

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

Ellard S et al.

Clinical Endocrinology, 2005

Effect of multiple endocrine neoplasia type 1 (MEN1) gene mutations on premature mortality in familial MEN1 syndrome with founder mutations.

Ebeling T et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

JunD-menin interaction regulates c-Jun-mediated AP-1 transactivation.

Ikeo Y et al.

Endocrine Journal, 2004

Clinical and genetic features of patients with multiple endocrine tumors who have neither family history nor MEN1 germline mutations.

Sakurai A et al.

Endocrine, 2004

Pituitary adenomas in adolescent patients with multiple endocrine neoplasia type 1.

Oiwa A et al.

Endocrine Journal, 2002

Molecular and genetic mechanisms of tumorigenesis in multiple endocrine neoplasia type-1.

Guo SS et al.

Molecular Endocrinology (baltimore, Md.), 2001

The MEN1 gene and associated diseases: an update.

Tsukada T et al.

Endocrine Pathology, 2001

Screening of the Men1 gene and discovery of germ-line and somatic mutations in apparently sporadic parathyroid tumors.

Uchino S et al.

Cancer Research, 2000

Malignant melanoma in patients with multiple endocrine neoplasia type 1 and involvement of the MEN1 gene in sporadic melanoma.

Nord B et al.

International Journal of Cancer, 2000

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

Roijers JF et al.

European Journal of Clinical Investigation, 2000

Characterization of the MEN1 gene product, menin, by site-specific polyclonal antibodies.

Ikeo Y et al.

Japanese Journal of Cancer Research : Gann, 1999

Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism.

Teh BT et al.

The Journal of Clinical Endocrinology and Metabolism, 1998

Novel MEN1 gene mutations in familial multiple endocrine neoplasia type 1.

Sakurai A et al.

Journal of Human Genetics, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."