Detalhe da pesquisa
1.
Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.
Hum Mol Genet
; 32(18): 2822-2831, 2023 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37384395
2.
GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy.
Am J Hum Genet
; 109(10): 1885-1893, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36103875
3.
Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene.
Genet Med
; 25(11): 100944, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37493040
4.
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
Brain
; 145(5): 1624-1631, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148383
5.
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
6.
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Brain
; 143(8): 2437-2453, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32761064
7.
Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene.
Prague Med Rep
; 121(3): 153-162, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33030144
8.
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
9.
Mutations in ANTXR1 cause GAPO syndrome.
Am J Hum Genet
; 92(5): 792-9, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23602711
10.
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
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.
ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder.
Brain Commun
; 5(6): fcad295, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37953841
13.
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.
Orphanet J Rare Dis
; 18(1): 92, 2023 04 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37095554
14.
Expression and processing of the TMEM70 protein.
Biochim Biophys Acta
; 1807(1): 144-9, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20937241
15.
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
16.
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
17.
Rare copy number variation in extremely impulsively violent males.
Genes Brain Behav
; 18(6): e12536, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30411505
18.
Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency.
BMC Genomics
; 9: 38, 2008 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-18221507
19.
Glucocorticoid agonistic and antagonistic effects of mifepristone and onapristone on thymocyte subset composition and CD26/dipeptidyl peptidase IV activity in infant male rats.
J Steroid Biochem Mol Biol
; 87(1): 85-96, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-14630094
20.
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
em Inglês
| MEDLINE | ID: mdl-24114807