Detalhe da pesquisa
1.
A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa.
Exp Dermatol
; 32(11): 1935-1945, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37665193
2.
MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype.
J Pediatr Gastroenterol Nutr
; 74(5): e115-e121, 2022 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35129155
3.
Could the MED13 mutations manifest as a Kabuki-like syndrome?
Am J Med Genet A
; 185(2): 584-590, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33258286
4.
Notch Signaling Regulation in Autoinflammatory Diseases.
Int J Mol Sci
; 21(22)2020 Nov 23.
Artigo
Inglês
| MEDLINE | ID: mdl-33238371
5.
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.
Haematologica
; 107(3): 750-754, 2022 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34788986
6.
DNA mismatch repair gene MSH6 implicated in determining age at natural menopause.
Hum Mol Genet
; 23(9): 2490-7, 2014 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24357391
7.
A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia.
J Med Genet
; 52(9): 617-26, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26136523
8.
Unraveling the Epigenetic Tapestry: Decoding the Impact of Epigenetic Modifications in Hidradenitis Suppurativa Pathogenesis.
Genes (Basel)
; 15(1)2023 Dec 26.
Artigo
Inglês
| MEDLINE | ID: mdl-38254928
9.
Genome-wide association studies of response and side effects to the BNT162b2 vaccine in Italian healthcare workers: Increased antibody levels and side effects in carriers of the HLA-A*03:01 allele.
HLA
; 102(6): 707-719, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37469131
10.
Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity.
Front Immunol
; 14: 1192690, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37304269
11.
Incidence of Congenital Clubfoot: Preliminary Data from Italian CeDAP Registry.
Int J Environ Res Public Health
; 19(9)2022 04 29.
Artigo
Inglês
| MEDLINE | ID: mdl-35564801
12.
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis.
Mol Genet Genomic Med
; 10(6): e1926, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35348309
13.
A rare loss-of-function genetic mutation suggest a role of dermcidin deficiency in hidradenitis suppurativa pathogenesis.
Front Immunol
; 13: 1060547, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36544771
14.
Whole-Genome Methylation Study of Congenital Lung Malformations in Children.
Front Oncol
; 11: 689833, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34262872
15.
Systematic analysis of factors that improve homologous direct repair (HDR) efficiency in CRISPR/Cas9 technique.
PLoS One
; 16(3): e0247603, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33667229
16.
Plant Antimicrobial Peptides as Potential Tool for Topic Treatment of Hidradenitis Suppurativa.
Front Microbiol
; 12: 795217, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34966375
17.
High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO).
Pediatr Rheumatol Online J
; 18(1): 55, 2020 Jul 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32650789
18.
Heterogeneity in Circulating Tumor Cells: The Relevance of the Stem-Cell Subset.
Cancers (Basel)
; 11(4)2019 Apr 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30959764
19.
Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature.
Am J Med Genet A
; 158A(2): 461-4, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22140086
20.
1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.
Sci Rep
; 7: 45040, 2017 04 28.
Artigo
Inglês
| MEDLINE | ID: mdl-28452372