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1.
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility.
Biomedicines
; 11(7)2023 Jul 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-37509701
2.
Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?
Front Cardiovasc Med
; 10: 1112759, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37089884
3.
A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome.
Diagnostics (Basel)
; 12(11)2022 Nov 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36359527
4.
Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.
J Clin Med
; 9(9)2020 Sep 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-32957588
5.
Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline.
Oncotarget
; 9(72): 33648-33655, 2018 Sep 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-30263092
6.
Downregulation of the major histocompatibility complex class I molecules by human herpesvirus type 8 and impaired natural killer cell activity in primary effusion lymphoma development.
Br J Haematol
; 130(1): 92-5, 2005 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-16044583
7.
Phenotype expression in a case of adult cystic fibrosis caused by an extremely rare compound heterozygous genotype (2183AA>G/2789+5G>A).
Pancreas
; 38(5): 599-601, 2009 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-19550280
8.
NK cell activity controls human herpesvirus 8 latent infection and is restored upon highly active antiretroviral therapy in AIDS patients with regressing Kaposi's sarcoma.
Eur J Immunol
; 32(10): 2711-20, 2002 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-12355422
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