Detalhe da pesquisa
1.
Moderate-severe beta-thalassemia intermedia phenotype caused by sextuplicated alpha-globin gene allele in two beta-thalassemia carriers.
Am J Hematol
; 2024 May 30.
Artigo
Inglês
| MEDLINE | ID: mdl-38817045
2.
Polymorphism of SLC6A2 gene does not influence outcome of myocardial 123I-mIBG scintigraphy in patients with chronic heart failure.
J Nucl Cardiol
; 25(3): 900-906, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-27844334
3.
Complement activation in leprosy: a retrospective study shows elevated circulating terminal complement complex in reactional leprosy.
Clin Exp Immunol
; 184(3): 338-46, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26749503
4.
Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9ORF72 hexanucleotide repeat expansion: a systematic neuropathological review.
Neuropathol Appl Neurobiol
; 42(6): 547-60, 2016 10.
Artigo
Inglês
| MEDLINE | ID: mdl-26373655
5.
Rheumatoid arthritis synovial tissue harbours dominant B-cell and plasma-cell clones associated with autoreactivity.
Ann Rheum Dis
; 73(4): 756-62, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23606709
6.
Deep sequencing of antiviral T-cell responses to HCMV and EBV in humans reveals a stable repertoire that is maintained for many years.
PLoS Pathog
; 8(9): e1002889, 2012 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23028307
7.
Gene expression profiling of laser microdissected airway smooth muscle tissue in asthma and atopy.
Allergy
; 69(9): 1233-40, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-24888725
8.
Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.
Nat Genet
; 14(1): 113-5, 1996 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-8782832
9.
Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.
Nat Genet
; 2(4): 288-91, 1992 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-1303281
10.
Mutations in ABCC6 cause pseudoxanthoma elasticum.
Nat Genet
; 25(2): 228-31, 2000 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-10835643
11.
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.
Nat Genet
; 15(4): 377-80, 1997 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-9090382
12.
Minocycline for sporadic and hereditary cerebral amyloid angiopathy (BATMAN): study protocol for a placebo-controlled randomized double-blind trial.
Trials
; 24(1): 378, 2023 Jun 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37277877
13.
Inflamed target tissue provides a specific niche for highly expanded T-cell clones in early human autoimmune disease.
Ann Rheum Dis
; 71(6): 1088-93, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22294635
14.
Deregulated expression of EZH2 in congenital brainstem disconnection.
Neuropathol Appl Neurobiol
; 43(4): 358-365, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-27886392
15.
Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas.
J Med Genet
; 48(2): 93-7, 2011 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-20930055
16.
Genome sequence of Neisseria meningitidis serogroup B strain H44/76.
J Bacteriol
; 193(9): 2371-2, 2011 May.
Artigo
Inglês
| MEDLINE | ID: mdl-21378179
17.
Innate and adaptive immunity in amyotrophic lateral sclerosis: evidence of complement activation.
Neurobiol Dis
; 42(3): 211-20, 2011 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-21220013
18.
SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis.
Clin Genet
; 77(1): 86-91, 2010 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-19912265
19.
The first case of protease-sensitive prionopathy (PSPr) in The Netherlands: a patient with an unusual GSS-like clinical phenotype.
J Neurol Neurosurg Psychiatry
; 81(9): 1052-5, 2010 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-20547632
20.
Upper motor neuron and extra-motor neuron involvement in amyotrophic lateral sclerosis: a clinical and brain imaging review.
Neuromuscul Disord
; 19(1): 53-8, 2009 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-19070491