Detalhe da pesquisa
1.
Cross-sectional study on autosomal recessive congenital ichthyoses: association of genotype with disease severity, phenotypic and ultrastructural features in 74 Italian patients.
Dermatology;
2024 Apr 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38588653
2.
X-linked ichthyosis: Clinical and molecular findings in 35 Italian patients.
Exp Dermatol;
28(10): 1156-1163, 2019 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29672931
3.
Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis.
Mol Med;
24(1): 38, 2018 07 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30134826
4.
Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.
J Med Genet;
54(4): 224-235, 2017 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27738188
5.
Clinical expression of cystic fibrosis in a large cohort of Italian siblings.
BMC Pulm Med;
18(1): 196, 2018 Dec 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30577776
6.
Congenital heart defects in molecularly proven Kabuki syndrome patients.
Am J Med Genet A;
173(11): 2912-2922, 2017 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28884922
7.
Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.
Mol Med;
22: 300-309, 2016 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27264265
8.
CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.
BMC Med Genet;
16: 78, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26334530
9.
Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.
BMC Cancer;
15: 841, 2015 Nov 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26530098
10.
Hypoplastic left heart syndrome and 21q22.3 deletion.
Am J Med Genet A;
167A(3): 579-86, 2015 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25663264
11.
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
BMC Med Genet;
15: 14, 2014 Jan 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24451042
12.
Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene.
Acta Derm Venereol;
99(9): 828-830, 2019 Jul 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30834456
13.
JAG1 mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot.
Am J Med Genet A;
161A(12): 3133-6, 2013 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23956173
14.
Sporadic Retinoblastoma and Pilocytic Astrocytoma: A Rare Association of Two Tumors.
Pediatr Blood Cancer;
62(12): 2245-6, 2015 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26173175
15.
Clinical hallmarks and genetic polymorphisms in the CFTR gene contribute to the disclosure of the A1006E mutation.
Clin Invest Med;
33(4): E234-9, 2010 Aug 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20691141
16.
Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease.
Pediatr Res;
65(3): 347-51, 2009 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19092723
17.
DNA damage and related modifier genes in Italian cystic fibrosis patients.
Biol Res;
42(4): 477-86, 2009.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20140303
18.
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders.
J Autism Dev Disord;
48(2): 442-449, 2018 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29027068
19.
antiphospholipid antibodies syndrome associated with hyperhomocysteinemia related to MTHFR Gene C677T and A1298C heterozygous mutations in a young man with idiopathic hypoparathyroidism (DiGeorge syndrome).
J Clin Endocrinol Metab;
91(6): 2021-6, 2006 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16595601
20.
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.
Orphanet J Rare Dis;
11: 4, 2016 Jan 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26762237