Detalhe da pesquisa
1.
RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis.
Blood;
137(15): 2033-2045, 2021 04 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33513601
2.
Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.
J Clin Immunol;
40(3): 503-514, 2020 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32072341
3.
Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes.
J Allergy Clin Immunol;
140(3): 782-796, 2017 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28115215
4.
Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.
Blood;
125(4): 639-48, 2015 Jan 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25349174
5.
ADA2 deficiency: Clonal lymphoproliferation in a subset of patients.
J Allergy Clin Immunol;
141(4): 1534-1537.e8, 2018 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29391253
6.
Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.
BMC Med Genomics;
16(1): 303, 2023 11 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38012624
7.
GJB2 and MTRNR1 contributions in children with hearing impairment from Northern Cameroon.
Int J Audiol;
50(2): 133-8, 2011 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21114417
8.
Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders.
Orphanet J Rare Dis;
13(1): 139, 2018 08 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30115091
9.
Haploinsufficiency of A20 impairs protein-protein interactome and leads into caspase-8-dependent enhancement of NLRP3 inflammasome activation.
RMD Open;
4(2): e000740, 2018.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30402268
10.
A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness.
Laryngoscope;
117(5): 821-4, 2007 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17473676
11.
Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland.
Eur J Hum Genet;
24(10): 1473-8, 2016 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27142677
12.
SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population.
Parkinsonism Relat Disord;
18(3): 257-62, 2012 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22104010
13.
Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene.
Neurobiol Aging;
32(11): 1994-2005, 2011 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20060621
14.
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease.
Parkinsonism Relat Disord;
16(3): 228-31, 2010 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19833540
15.
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.
Genet Test Mol Biomarkers;
13(2): 209-17, 2009 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19371219