Detalhe da pesquisa
1.
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
J Med Genet
; 60(2): 163-173, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35256403
2.
The Continuous Adaptive Challenge Played by Arboviruses: An In Silico Approach to Identify a Possible Interplay between Conserved Viral RNA Sequences and Host RNA Binding Proteins (RBPs).
Int J Mol Sci
; 24(13)2023 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37446229
3.
First report of whole CFTR gene duplication in a healthy newborn carrying R74W and V855I variants on the same allele.
J Cyst Fibros
; 2024 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38320874
4.
What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis.
Genes (Basel)
; 14(1)2023 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672906
5.
Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer.
Genes (Basel)
; 14(8)2023 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628581
6.
Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.
Childs Nerv Syst
; 28(9): 1301-10, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22872241
7.
An in silico pipeline approach uncovers a potentially intricate network involving spike SARS-CoV-2 RNA, RNA vaccines, host RNA-binding proteins (RBPs), and host miRNAs at the cellular level.
J Genet Eng Biotechnol
; 20(1): 129, 2022 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36066672
8.
McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family.
Indian J Hum Genet
; 17(2): 94-6, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22090721
9.
In Silico Analysis of Possible Interaction between Host Genomic Transcription Factors (TFs) and Zika Virus (ZikaSPH2015) Strain with Combinatorial Gene Regulation; Virus Versus Host-The Game Reloaded.
Pathogens
; 10(1)2021 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33466592
10.
Pathogenic DNM1L Variant (1085G>A) Linked to Infantile Progressive Neurological Disorder: Evidence of Maternal Transmission by Germline Mosaicism and Influence of a Contemporary in cis Variant (1535T>C).
Genes (Basel)
; 12(9)2021 08 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34573276
11.
A SARS-CoV-2 host infection model network based on genomic human Transcription Factors (TFs) depletion.
Heliyon
; 6(10): e05010, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32984567
12.
Rising Roles of Small Noncoding RNAs in Cotranscriptional Regulation: In Silico Study of miRNA and piRNA Regulatory Network in Humans.
Genes (Basel)
; 11(5)2020 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32365489
13.
The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.
Genes (Basel)
; 11(12)2020 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33353066
14.
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.
Ital J Pediatr
; 46(1): 74, 2020 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32460883
15.
Chromosomal aberrations in subjects exposed to ionizing radiation.
J Environ Pathol Toxicol Oncol
; 28(1): 75-82, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19392657
16.
Coexistence of beta-thalassemia and hereditary hemochromatosis in homozygosity: a possible synergic effect?
Hemoglobin
; 33(2): 155-7, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19373593
17.
Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.
Genes (Basel)
; 9(4)2018 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29673180
18.
SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome.
Twin Res Hum Genet
; 10(4): 655-7, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17708708
19.
Genetics in the art and art in genetics.
Gene
; 555(1): 14-22, 2015 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25089030
20.
Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation.
J Invest Dermatol
; 140(5): 1106-1110.e2, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31726051