Associated Papers
Multifaceted analysis of noncoding and coding de novo variants implicates NOTCH signaling pathway in tetralogy of Fallot in Chinese population.
Lin Q et al.
Hgg Advances, 2025
39921258 (PubMed )
Supplement: mmc2.xlsx › S4_NC_DNVs_in_CHN-TOF
Alternative splicing generates isoform diversity in MEN1.
Ramachandran A et al.
Endocrine Oncology (bristol, England), 2024
39649118 (PubMed )
Supplement: supplementary_table_3.xlsx › Supplementary_Table_3
Investigating the Effects of Amino Acid Variations in Human Menin.
Biancaniello C et al.
Molecules (basel, Switzerland), 2022
35268848 (PubMed )
Supplement: molecules-27-01747-s001.zip › Supplementary-Table-S4.pdf
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.
McGuigan A et al.
European Journal of Human Genetics : Ejhg, 2022
34983940 (PubMed )
Supplement: 41431_2021_1013_MOESM1_ESM.pdf
Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database.
Marini F et al.
Endocrine, 2018
Cinacalcet therapy in patients affected by primary hyperparathyroidism associated to Multiple Endocrine Neoplasia Syndrome type 1 (MEN1).
Giusti F et al.
Endocrine, 2016
Prevalence of AIP mutations in a large series of sporadic Italian acromegalic patients and evaluation of CDKN1B status in acromegalic patients with multiple endocrine neoplasia.
Occhi G et al.
European Journal of Endocrinology, 2010
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
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