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
Inglês
| MEDLINE | ID: mdl-38096951
2.
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
Inglês
| MEDLINE | ID: mdl-32750457
3.
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
Inglês
| MEDLINE | ID: mdl-27392076
4.
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
J Am Soc Nephrol
; 29(9): 2418-2431, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29967284
5.
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
Inglês
| MEDLINE | ID: mdl-27466185
6.
Mutations in ANTXR1 cause GAPO syndrome.
Am J Hum Genet
; 92(5): 792-9, 2013 May 02.
Artigo
Inglês
| MEDLINE | ID: mdl-23602711
7.
Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.
Hum Mol Genet
; 21(7): 1534-43, 2012 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-22180458
8.
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.
Am J Hum Genet
; 85(2): 204-13, 2009 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-19664745
9.
Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin.
Life Sci Alliance
; 5(4)2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35064074
10.
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
Inglês
| MEDLINE | ID: mdl-31919451
11.
Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation.
Cell Metab
; 20(3): 448-57, 2014 Sep 02.
Artigo
Inglês
| MEDLINE | ID: mdl-25066056
12.
Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene.
Circ Cardiovasc Genet
; 6(6): 543-51, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24114807
13.
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
Nat Genet
; 45(3): 299-303, 2013 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-23396133