Detalhe da pesquisa
1.
A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes.
Int J Mol Sci
; 21(24)2020 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33322357
2.
Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis.
Biochim Biophys Acta Mol Basis Dis
; 1864(2): 464-470, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29154924
3.
Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes.
Blood Cells Mol Dis
; 55(1): 71-5, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25976471
4.
TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy.
Blood Cells Mol Dis
; 52(2-3): 83-7, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24055163
5.
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain.
Am J Med Genet A
; 164A(2): 528-34, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24311540
6.
Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation.
Am J Med Genet A
; 164A(11): 2938-46, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25160005
7.
Molecular characterization of 11 Italian patients with Darier disease.
Eur J Dermatol
; 21(3): 334-8, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21527373
8.
A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases.
Br J Haematol
; 147(3): 379-85, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19709084
9.
Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major.
Haematologica
; 94(9): 1293-6, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19734422
10.
Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6.
Am J Med Genet A
; 149A(8): 1768-72, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19610080
11.
Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation.
Hum Mutat
; 29(2): 220-6, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18085567
12.
Type 3 hereditary hemochromatosis in a patient from sub-Saharan Africa: is there a link between African iron overload and TFR2 dysfunction?
Blood Cells Mol Dis
; 50(1): 31-2, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22981443
13.
The "old theme" of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with ("San Diego" variant) and without ragged metaphyses due to the same FGFR3 mutation.
Am J Med Genet A
; 161A(10): 2675-7, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24038754
14.
Identification of a novel duplication in the APC gene using multiple ligation probe amplification in a patient with familial adenomatous polyposis.
Cancer Genet Cytogenet
; 182(2): 130-5, 2008 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18406876
15.
AXIN2 germline mutations are rare in familial melanoma.
Genes Chromosomes Cancer
; 50(5): 370-3, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21294210
16.
Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy.
Data Brief
; 7: 607-13, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27054166
17.
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.
Gene
; 577(2): 227-35, 2016 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26656175
18.
A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review.
Cardiovasc Pathol
; 25(5): 423-31, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27497751
19.
Natural history of TFR2-related hereditary hemochromatosis in a 47-yr-old Italian patient.
Eur J Haematol
; 83(5): 494-6, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19549277
20.
Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.
Endocr Connect
; 3(4): 180-92, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25248670