Detalhe da pesquisa
1.
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literature.
Neurogenetics
; 2024 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38498292
2.
Multimodal treatment with curative intent in a germline BRCA2 mutant metastatic ampullary adenocarcinoma: a case report.
World J Surg Oncol
; 21(1): 118, 2023 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36998040
3.
Unbalanced X;Autosome Translocations May Lead to Mild Phenotypes and Are Associated with Autoimmune Diseases.
Cytogenet Genome Res
; 160(2): 80-84, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32018271
4.
Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review.
Am J Med Genet A
; 173(1): 200-206, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27615407
5.
Identification of a novel NOTCH3 mutation in an Italian family affected by a mild form of CADASIL.
Neurol Sci
; 40(8): 1751-1753, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30847673
6.
Cobblestone-like brain malformation with a new bi-allelic ADGRG1 (GPR-56) mutation: Fetal imaging-pathology correlation.
J Neuroimaging
; 33(4): 527-533, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37259271
7.
Two novel variants in the lecithin:cholesterol acyltransferase gene resulted in classic LCAT deficiency.
Atheroscler Plus
; 49: 28-31, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36644204
8.
Acute Myocarditis Associated With Desmosomal Gene Variants.
JACC Heart Fail
; 10(10): 714-727, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36175056
9.
Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics.
Breast Cancer Res Treat
; 124(1): 251-8, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20373018
10.
Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis.
Eur J Pediatr
; 169(10): 1255-61, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20473517
11.
Combined evaluation of genotype and phenotype of thiopurine S-methyltransferase (TPMT) in the clinical management of patients in chronic therapy with azathioprine.
Drug Metab Pers Ther
; 34(1)2019 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30840585
12.
Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs.
Am J Med Genet A
; 146A(6): 784-6, 2008 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18266238
13.
SNPs of the FADS gene cluster are associated with polyunsaturated fatty acids in a cohort of patients with cardiovascular disease.
Lipids
; 43(4): 289-99, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18320251
14.
Mitochondrial DNA copy number and D-loop region methylation in carriers of amyotrophic lateral sclerosis gene mutations.
Epigenomics
; 10(11): 1431-1443, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30088417
15.
ALOX5AP gene variants and risk of coronary artery disease: an angiography-based study.
Eur J Hum Genet
; 15(9): 959-66, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17505527
16.
Gene sequence variations of the platelet P2Y12 receptor are associated with coronary artery disease.
BMC Med Genet
; 8: 59, 2007 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-17803810
17.
Contribution of gene sequence variations of the hepatic cytochrome P450 3A4 enzyme to variability in individual responsiveness to clopidogrel.
Arterioscler Thromb Vasc Biol
; 26(8): 1895-900, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16645157
18.
Array CGH in routine prenatal diagnosis practice.
Prenat Diagn
; 32(7): 708-9; author reply 711-2, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22752938
19.
On the association of the oxidised LDL receptor 1 (OLR1) gene in patients with acute myocardial infarction or coronary artery disease.
Eur J Hum Genet
; 14(1): 127-30, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16251892
20.
Influence of the CD14 C260T promoter polymorphism on C-reactive protein levels in patients with coronary artery disease.
Am J Cardiol
; 98(9): 1182-4, 2006 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17056323