Detalhe da pesquisa
1.
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.
J Med Genet
; 58(5): 314-325, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32518176
2.
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
J Med Genet
; 53(8): 536-47, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27073233
3.
Detection of candidate nectin gene mutations in infertile men with severe teratospermia.
J Assist Reprod Genet
; 34(10): 1295-1302, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28689229
4.
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Hum Mol Genet
; 23(10): 2752-68, 2014 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24381304
5.
The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.
Am J Med Genet B Neuropsychiatr Genet
; 171B(3): 377-82, 2016 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26978485
6.
Differential binding of Escherichia coli McrA protein to DNA sequences that contain the dinucleotide m5CpG.
Nucleic Acids Res
; 38(6): 1997-2005, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20015968
7.
Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice.
Orphanet J Rare Dis
; 17(1): 386, 2022 10 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36280881
8.
Progressive multifocal leukoencephalopathy genetic risk variants for pharmacovigilance of immunosuppressant therapies.
Front Neurol
; 13: 1016377, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36588876
9.
Comparative genomic hybridization solves a 14-year-old PARKIN mystery.
Ann Neurol
; 78(4): 663-4, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26179350
10.
Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.
J Med Genet
; 47(4): 223-9, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19752160
11.
High-resolution genome-wide cytosine methylation profiling with simultaneous copy number analysis and optimization for limited cell numbers.
Nucleic Acids Res
; 37(12): 3829-39, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19386619
12.
The potential role of epigenomic dysregulation in complex human disease.
Trends Genet
; 23(11): 588-95, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17953999
13.
Association of DRD4 polymorphism with severity of oppositional defiant disorder, separation anxiety disorder and repetitive behaviors in children with autism spectrum disorder.
Eur J Neurosci
; 32(6): 1058-65, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20731709
14.
Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH.
Am J Med Genet A
; 152A(10): 2493-504, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20799323
15.
Loss-of-Function NUBPL Mutation May Link Parkinson's Disease to Recessive Complex I Deficiency.
Front Neurol
; 11: 555961, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33224084
16.
Germline Genetic Risk Variants for Progressive Multifocal Leukoencephalopathy.
Front Neurol
; 11: 186, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32256442
17.
Association of a monoamine oxidase-a gene promoter polymorphism with ADHD and anxiety in boys with autism spectrum disorder.
J Autism Dev Disord
; 39(1): 67-74, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18566880
18.
Human MLPA Probe Design (H-MAPD): a probe design tool for both electrophoresis-based and bead-coupled human multiplex ligation-dependent probe amplification assays.
BMC Genomics
; 9: 407, 2008 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-18783624
19.
Association of ADHD, tics, and anxiety with dopamine transporter (DAT1) genotype in autism spectrum disorder.
J Child Psychol Psychiatry
; 49(12): 1331-8, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19120712
20.
A de novo apparently balanced translocation [46,XY,t(2;9)(p13;p24)] interrupting RAB11FIP5 identifies a potential candidate gene for autism spectrum disorder.
Am J Med Genet B Neuropsychiatr Genet
; 147B(4): 411-7, 2008 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-18384058