Associated Papers
Familial states of primary hyperparathyroidism: an update.
Cetani F et al.
Journal of Endocrinological Investigation, 2024
Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review.
Chevalier B et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism.
Mazarico-Altisent I et al.
Journal of Endocrinological Investigation, 2023
Multiple endocrine neoplasia type 4: a new member of the MEN family.
Singeisen H et al.
Endocrine Connections, 2023
A pilot study of the use of dynamic analysis of cell-free DNA from aqueous humor and vitreous fluid for the diagnosis and treatment monitoring of vitreoretinal lymphomas.
Wang X et al.
Haematologica, 2022
Deciphering Genetic Alterations of Hairy Cell Leukemia and Hairy Cell Leukemia-like Disorders in 98 Patients.
Maitre E et al.
Cancers, 2022
Case Report: New CDKN1B Mutation in Multiple Endocrine Neoplasia Type 4 and Brief Literature Review on Clinical Management.
Lavezzi E et al.
Frontiers in Endocrinology, 2022
Mutational Profile and Clonal Evolution of Relapsed/Refractory Diffuse Large B-Cell Lymphoma.
Lee B et al.
Frontiers in Oncology, 2021
Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.
Durham BH et al.
Nature Medicine, 2019
Clinical Features of Multiple Endocrine Neoplasia Type 4: Novel Pathogenic Variant and Review of Published Cases.
Frederiksen A et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
The prognostic effects of somatic mutations in ER-positive breast cancer.
Griffith OL et al.
Nature Communications, 2018
New generation sequencing of targeted genes in the classical and the variant form of hairy cell leukemia highlights mutations in epigenetic regulation genes.
Maitre E et al.
Oncotarget, 2018
Landscape of CDKN1B Mutations in Luminal Breast Cancer and Other Hormone-Driven Human Tumors.
Cusan M et al.
Frontiers in Endocrinology, 2018
The evolutionary landscape of chronic lymphocytic leukemia treated with ibrutinib targeted therapy.
Landau DA et al.
Nature Communications, 2017
p27Kip1 and human cancers: A reappraisal of a still enigmatic protein.
Bencivenga D et al.
Cancer Letters, 2017
A Possible New Multiple Endocrine Neoplasia Mutation in a Patient with a Prototypic Multiple Endocrine Neoplasia Presentation.
Buzzola R et al.
Cardiorenal Medicine, 2016
Genomic analyses reveal recurrent mutations in epigenetic modifiers and the JAK-STAT pathway in Sézary syndrome.
Kiel MJ et al.
Nature Communications, 2015
Recurrent CDKN1B (p27) mutations in hairy cell leukemia.
Dietrich S et al.
Blood, 2015
Functional characterization of a CDKN1B mutation in a Sardinian kindred with multiple endocrine neoplasia type 4 (MEN4).
Pardi E et al.
Endocrine Connections, 2015
Cyclin-dependent kinase inhibitor 1B (CDKN1B) gene variants in AIP mutation-negative familial isolated pituitary adenoma kindreds.
Tichomirowa MA et al.
Endocrine-related Cancer, 2012
Functional characterization of a rare germline mutation in the gene encoding the cyclin-dependent kinase inhibitor p27Kip1 (CDKN1B) in a Spanish patient with multiple endocrine neoplasia-like phenotype.
Malanga D et al.
European Journal of Endocrinology, 2012
Haploinsufficient and predominant expression of multiple endocrine neoplasia type 1 (MEN1)-related genes, MLL, p27Kip1 and p18Ink4C in endocrine organs.
Taguchi R et al.
Biochemical and Biophysical Research Communications, 2011
Genetic susceptibility in pituitary adenomas: from pathogenesis to clinical implications.
Jaffrain-Rea ML et al.
Expert Review of Endocrinology & Metabolism, 2011
p27kip1: a new multiple endocrine neoplasia gene?
Marinoni I et al.
Neuroendocrinology, 2011
Attenuated expression of menin and p27 (Kip1) in an aggressive case of multiple endocrine neoplasia type 1 (MEN1) associated with an atypical prolactinoma and a malignant pancreatic endocrine tumor.
Ishida E et al.
Endocrine Journal, 2011
A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization.
Molatore S et al.
Human Mutation, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
MEN-4 and other multiple endocrine neoplasias due to cyclin-dependent kinase inhibitors (p27(Kip1) and p18(INK4C)) mutations.
Georgitsi M
Best Practice & Research. Clinical Endocrinology & Metabolism, 2010
Familial isolated pituitary adenoma: evidence for genetic heterogeneity.
Toledo RA et al.
Frontiers of Hormone Research, 2010
Familial pituitary tumor syndromes.
Elston MS et al.
Nature Reviews. Endocrinology, 2009
Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia.
Georgitsi M et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
The p27Kip1 tumor suppressor gene: Still a suspect or proven guilty?
Polyak K
Cancer Cell, 2006