Detalhe da pesquisa
1.
Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling.
Int J Mol Sci
; 24(4)2023 Feb 16.
Artigo
Inglês
| MEDLINE | ID: mdl-36835439
2.
Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome.
Clin Genet
; 99(4): 540-546, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33372278
3.
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
Inglês
| MEDLINE | ID: mdl-33322357
4.
A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome.
Dermatol Online J
; 26(8)2020 Aug 15.
Artigo
Inglês
| MEDLINE | ID: mdl-32941720
5.
Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes.
Genes Chromosomes Cancer
; 57(11): 573-583, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30338612
6.
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
Inglês
| MEDLINE | ID: mdl-29154924
7.
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.
Am J Med Genet C Semin Med Genet
; 169C(1): 43-53, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25655071
8.
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
Inglês
| MEDLINE | ID: mdl-24055163
9.
Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: a study of intrafamilial and interfamilial variability in 23 Italian pedigrees.
Am J Med Genet A
; 164A(12): 3010-20, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25338840
10.
Incidental finding of an Xq microdeletion in a girl with trichorhinophalangeal syndrome type I harboring a novel TRPS1 nonsense mutation.
Minerva Pediatr
; 70(6): 639-642, 2018 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-29651829
11.
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
Eur J Hum Genet
; 31(4): 474-478, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36529819
12.
A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report.
Genes (Basel)
; 13(7)2022 07 17.
Artigo
Inglês
| MEDLINE | ID: mdl-35886051
13.
Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome.
Am J Med Genet A
; 152A(8): 2043-7, 2010 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-20635335
14.
Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance.
Am J Med Genet A
; 152A(11): 2810-5, 2010 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-20949527
15.
Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion.
Eur J Med Genet
; 63(3): 103739, 2020 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-31421289
16.
Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene.
Psychiatr Genet
; 29(3): 86-90, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30724859
17.
Familial melanoma and multiple primary melanoma.
G Ital Dermatol Venereol
; 152(3): 262-265, 2017 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-28121081
18.
Answer to Letter to the Editor regarding the article "Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion".
Eur J Med Genet
; 63(10): 103993, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32574611
19.
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.
Eur J Med Genet
; 56(10): 570-6, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23994350