Detalles de la búsqueda
1.
Clinical and molecular characteristics of two Italian kindreds with hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome.
J Endocrinol Invest
; 47(2): 469-478, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37561279
2.
When to suspect infantile hypercalcemia-1?
J Endocrinol Invest
; 2024 Feb 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38329607
3.
Disorders of sexual development with XY karyotype and female phenotype: clinical findings and genetic background in a cohort from a single centre.
J Endocrinol Invest
; 44(1): 145-151, 2021 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-32378143
4.
Correction to: Whole exome sequencing in familial isolated primary hyperparathyroidism.
J Endocrinol Invest
; 43(3): 399, 2020 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-31559585
5.
Whole exome sequencing in familial isolated primary hyperparathyroidism.
J Endocrinol Invest
; 43(2): 231-245, 2020 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-31486992
6.
Germline investigation in male breast cancer of DNA repair genes by next-generation sequencing.
Breast Cancer Res Treat
; 178(3): 557-564, 2019 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-31512090
7.
Association of SULT1A1 Arg²¹³His polymorphism with male breast cancer risk: results from a multicenter study in Italy.
Breast Cancer Res Treat
; 148(3): 623-8, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-25385181
8.
Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.
Br J Cancer
; 104(8): 1356-61, 2011 Apr 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-21427728
9.
PROMs in post-mastectomy care: Patient self-reports (BREAST-Q™) as a powerful instrument to personalize medical services.
Eur J Surg Oncol
; 46(6): 1034-1040, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-31812290
10.
Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).
Br J Cancer
; 101(12): 2048-54, 2009 Dec 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-19920816
11.
Two mutations of BRCA2 gene at exon and splicing site in a woman who underwent oncogenetic counseling.
Ann Oncol
; 20(5): 874-8, 2009 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-19179552
12.
Increased rate of base substitution in a hamster mutator strain obtained during serial selection for gene amplification.
Mol Cell Biol
; 10(12): 6805-8, 1990 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-2247084
13.
Consortium study on 1280 breast carcinomas: allelic loss on chromosome 17 targets subregions associated with family history and clinical parameters.
Cancer Res
; 58(5): 1004-12, 1998 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-9500463
14.
Screening for mutations in exon 11 of the BRCA1 gene in 70 Italian breast and ovarian cancer patients by protein truncation test.
Oncogene
; 13(6): 1353-7, 1996 Sep 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-8808710
15.
BRCA1 germline mutational spectrum in Italian families from Tuscany: a high frequency of novel mutations.
Oncogene
; 13(7): 1483-8, 1996 Oct 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-8875986
16.
Accumulation of anchorage independent cells showing amplified genes (CAD) during the in vitro propagation of CHEF18 Chinese hamster cells.
Cell Prolif
; 26(2): 161-70, 1993 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-8097113
17.
Reply to BRCA2 splice site mutations in an Italian breast/ovarian cancer family.
Ann Oncol
; 20(7): 1285-1286, 2009 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-32560020
18.
Down regulation of NM23.H1, NM23.H2 and c-myc genes during differentiation induced by 1,25 dihydroxyvitamin D3.
Leuk Res
; 20(2): 161-7, 1996 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-8628015
19.
Microsatellite instability and allelic losses in neuroendocrine tumors of the gastro-entero-pancreatic system.
Int J Oncol
; 15(2): 361-6, 1999 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-10402248
20.
A region on the long arm of chromosome 16 is frequently deleted in metastatic node-negative breast cancer.
Int J Oncol
; 13(1): 177-82, 1998 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-9625819