Detalhe da pesquisa
1.
Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric features.
Am J Med Genet C Semin Med Genet
; 193(2): 160-166, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36734411
2.
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Hum Genet
; 142(6): 785-808, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37079061
3.
Association between HMGCR, CRP, and CETP gene polymorphisms and metabolic/inflammatory serum profile in healthy adolescents.
J Transl Med
; 21(1): 718, 2023 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37833739
4.
LPL, FNDC5 and PPARγ gene polymorphisms related to body composition parameters and lipid metabolic profile in adolescents from Southern Italy.
J Transl Med
; 20(1): 107, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35241092
5.
SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.
Clin Genet
; 102(1): 12-21, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35396703
6.
Further delineation of Malan syndrome.
Hum Mutat
; 39(9): 1226-1237, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29897170
7.
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.
Eur J Hum Genet
; 31(7): 805-814, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37059841
8.
Azacitidine Post-Remission Therapy for Elderly Patients with AML: A Randomized Phase-3 Trial (QoLESS AZA-AMLE).
Cancers (Basel)
; 15(9)2023 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37173908
9.
Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.
Mol Genet Metab
; 107(3): 627-9, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22840376
10.
Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants.
Genes (Basel)
; 13(5)2022 05 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35627274
11.
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.
Orphanet J Rare Dis
; 17(1): 235, 2022 06 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35717370
12.
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome.
J Clin Med
; 11(14)2022 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35887841
13.
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants.
Genes (Basel)
; 13(11)2022 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36421837
14.
Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype.
Genes (Basel)
; 12(7)2021 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34208845
15.
Accuracy of bone marrow histochemical TP53 expression compared to the detection of TP53 somatic mutations in patients with myelodysplastic syndromes harbouring a del5q cytogenetic abnormality.
Am J Blood Res
; 11(4): 417-426, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34540351
16.
Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy.
Eur J Endocrinol
; 184(4): 575-585, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33606663
17.
High incidence of factor V Leiden and prothrombin G20210A in healthy southern Italians.
Clin Appl Thromb Hemost
; 15(3): 356-9, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19211580
18.
Prevalence of prothrombotic polymorphisms in a selected cohort of cryptogenic and noncryptogenic ischemic stroke patients.
Neurol India
; 57(5): 636-7, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19934566
19.
Maturity Onset Diabetes of the Young is Not Necessarily Associated with Autosomal Inheritance: Case Description of a De Novo HFN1A Mutation.
Diabetes Ther
; 10(4): 1543-1548, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31098941
20.
MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment.
Eur J Hum Genet
; 16(5): 565-71, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18212817