Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
Adipose tissue-specific ablation of PGC-1ß impairs thermogenesis in brown fat.
Dis Model Mech
; 15(4)2022 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35466996
6.
Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin.
Life Sci Alliance
; 5(4)2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35064074
7.
NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease.
J Neuropathol Exp Neurol
; 79(10): 1065-1071, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32827029
8.
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
9.
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
10.
Rare copy number variation in extremely impulsively violent males.
Genes Brain Behav
; 18(6): e12536, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30411505
11.
Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion.
Neurology
; 90(8): e658-e663, 2018 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29352102
12.
Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?
Ann Clin Transl Neurol
; 8(4): 994-1001, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33780169
13.
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).
Neurology
; 87(6): 579-84, 2016 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27412140