Detalhe da pesquisa
1.
DnaJ Heat Shock Protein Family B Member 9 Is a Novel Biomarker for Fibrillary GN.
J Am Soc Nephrol
; 29(1): 51-56, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29097623
2.
Applying Standard Clinical Chemistry Assay Validation to Droplet Digital PCR Quantitative Liquid Biopsy Testing.
Clin Chem
; 64(12): 1732-1742, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30237149
3.
Novel Type of Renal Amyloidosis Derived from Apolipoprotein-CII.
J Am Soc Nephrol
; 28(2): 439-445, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27297947
4.
Hereditary Lysozyme Amyloidosis Variant p.Leu102Ser Associates with Unique Phenotype.
J Am Soc Nephrol
; 28(2): 431-438, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28049649
5.
Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.
J Proteome Res
; 13(5): 2352-8, 2014 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24650283
6.
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.
Mol Genet Metab
; 100(3): 241-50, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20434380
7.
Amyloid Typing by Mass Spectrometry in Clinical Practice: a Comprehensive Review of 16,175 Samples.
Mayo Clin Proc
; 95(9): 1852-1864, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32861330
8.
First Report of Bilateral External Auditory Canal Cochlin Aggregates ("Cochlinomas") with Multifocal Amyloid-Like Deposits, Associated with Sensorineural Hearing Loss and a Novel Genetic Variant in COCH Encoding Cochlin.
Head Neck Pathol
; 14(3): 808-816, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31493294
9.
Solid phase and solution synthesis of NvocLys(CO(CH2)5NH-NBD)OCH2CN, a trifunctional fluorescent lysine derivative.
Amino Acids
; 36(2): 203-7, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18365133
10.
The Power of Proficiency Testing: Unraveling Single-Nucleotide Polymorphism Interference, With Potential Impact on Clinical Testing of Spinocerebellar Ataxia Type 3.
Arch Pathol Lab Med
; 143(3): 349-355, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30383393
11.
Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup.
Cold Spring Harb Mol Case Stud
; 5(2)2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30696621
12.
Consensus characterization of 16 FMR1 reference materials: a consortium study.
J Mol Diagn
; 10(1): 2-12, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18165276
13.
A Patient With Hereditary ATTR and a Novel AGel p.Ala578Pro Amyloidosis.
Mayo Clin Proc
; 93(11): 1678-1682, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30093168
14.
CDKN2A Germline Rare Coding Variants and Risk of Pancreatic Cancer in Minority Populations.
Cancer Epidemiol Biomarkers Prev
; 27(11): 1364-1370, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30038052
15.
RET proto-oncogene genotyping using unlabeled probes, the masking technique, and amplicon high-resolution melting analysis.
J Mol Diagn
; 9(2): 184-96, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17384210
16.
Homozygous transthyretin mutation in an African American Male.
J Mol Diagn
; 9(1): 127-31, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17251346
17.
Relationship between age-related macular degeneration-associated variants of complement factor H and LOC387715 with coronary artery disease.
Mayo Clin Proc
; 82(3): 301-7, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17352366
18.
Comparison of three methods for genotyping the UGT1A1 (TA)n repeat polymorphism.
Clin Biochem
; 40(9-10): 710-7, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17459361
19.
LOC387715/HTRA1 and complement factor H variants in patients with age-related macular degeneration seen at the mayo clinic.
Ophthalmic Genet
; 28(4): 203-7, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18161619
20.
Mitochondrial DNA sequence data reveals association of haplogroup U with psychosis in bipolar disorder.
J Psychiatr Res
; 84: 221-226, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27770741