Detalhe da pesquisa
1.
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
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.
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
4.
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
5.
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.
Cardiol Young
; 27(5): 936-944, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27839525
6.
Mutations in ANTXR1 cause GAPO syndrome.
Am J Hum Genet
; 92(5): 792-9, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23602711
7.
Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.
Genet Med
; 17(2): 131-42, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25058500
8.
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.
Hum Mutat
; 35(4): 470-7, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24449431
9.
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
10.
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.
Brain
; 136(Pt 5): 1508-17, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23543484
11.
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
12.
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
13.
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
14.
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
15.
Rare copy number variation in extremely impulsively violent males.
Genes Brain Behav
; 18(6): e12536, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30411505
16.
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
17.
Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.
Nat Neurosci
; 21(2): 207-217, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29311744
18.
Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.
Nat Neurosci
; 21(8): 1139, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29875394
19.
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
20.
Rare variants in known and novel candidate genes predisposing to statin-associated myopathy.
Pharmacogenomics
; 17(13): 1405-14, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27296017