Detalhe da pesquisa
1.
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.
Kidney Int
; 105(4): 799-811, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38096951
2.
A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis.
Kidney Int
; 101(2): 349-359, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34560138
3.
Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations.
Am J Nephrol
; 52(5): 378-387, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34098564
4.
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Kidney Int
; 98(6): 1589-1604, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32750457
5.
Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases.
Genet Med
; 22(1): 142-149, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31337885
6.
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.
Am J Hum Genet
; 98(1): 75-89, 2016 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26749309
7.
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
Am J Hum Genet
; 99(1): 174-87, 2016 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27392076
8.
Quality of life in patients with autosomal dominant tubulointerstitial kidney diseaseâ©.
Clin Nephrol
; 92(6): 302-311, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31587753
9.
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
J Am Soc Nephrol
; 29(9): 2418-2431, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29967284
10.
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
Hum Mol Genet
; 25(18): 4062-4079, 2016 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27466185
11.
Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females.
Rheumatology (Oxford)
; 57(7): 1180-1185, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30423175
12.
Mutations in ANTXR1 cause GAPO syndrome.
Am J Hum Genet
; 92(5): 792-9, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23602711
13.
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.
Am J Hum Genet
; 89(2): 241-52, 2011 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21820099
14.
Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.
Genes Brain Behav
; 23(1): e12882, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38359179
15.
Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 2022.
Sci Rep
; 13(1): 6156, 2023 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37061534
16.
Expression and processing of the TMEM70 protein.
Biochim Biophys Acta
; 1807(1): 144-9, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20937241
17.
POLRMT mutations impair mitochondrial transcription causing neurological disease.
Nat Commun
; 12(1): 1135, 2021 02 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33602924
18.
Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing.
Mol Genet Genomic Med
; 8(7): e1238, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32337852
19.
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.
Eur J Hum Genet
; 28(6): 783-789, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31919451
20.
Rare copy number variation in extremely impulsively violent males.
Genes Brain Behav
; 18(6): e12536, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30411505