Detalhe da pesquisa
1.
Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene.
Int J Mol Sci
; 24(19)2023 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37834164
2.
Optical genome mapping reveals additional prognostic information compared to conventional cytogenetics in AML/MDS patients.
Int J Cancer
; 150(12): 1998-2011, 2022 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35064925
3.
Optical Genome Mapping Reveals Genomic Alterations upon Gene Editing in hiPSCs: Implications for Neural Tissue Differentiation and Brain Organoid Research.
Cells
; 13(6)2024 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38534351
4.
Ccdc66 null mutation causes retinal degeneration and dysfunction.
Hum Mol Genet
; 20(18): 3620-31, 2011 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21680557
5.
Optical Genome Mapping for Cytogenetic Diagnostics in AML.
Cancers (Basel)
; 15(6)2023 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980569
6.
Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene.
Neurogenetics
; 11(2): 163-74, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19777273
7.
Unusual Charcot-Marie-Tooth phenotype due to a mutation within the intracellular domain of myelin protein zero.
Muscle Nerve
; 41(4): 550-4, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19882637
8.
Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene.
Mol Cell Probes
; 24(6): 357-63, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20691256
9.
Myelin Water Fraction Imaging Reveals Hemispheric Asymmetries in Human White Matter That Are Associated with Genetic Variation in PLP1.
Mol Neurobiol
; 56(6): 3999-4012, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30242727
10.
Structural Asymmetry in the Frontal and Temporal Lobes Is Associated with PCSK6 VNTR Polymorphism.
Mol Neurobiol
; 56(11): 7765-7773, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31115778
11.
Optical Genome Mapping in MDS and AML as tool for structural variant profiling-comment and data update on Yang et al.: "High-resolution structural variant profiling of myelodysplastic syndromes by optical genome mapping uncovers cryptic aberrations of prognostic and therapeutic significance".
Leukemia
; 37(1): 248-249, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36434063
12.
Neurodegeneration in the olfactory bulb and olfactory deficits in the Ccdc66 -/- mouse model for retinal degeneration.
IBRO Rep
; 5: 43-53, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30211337
13.
PLP1 Gene Variation Modulates Leftward and Rightward Functional Hemispheric Asymmetries.
Mol Neurobiol
; 55(10): 7691-7700, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29435918
14.
PLP1 and CNTN1 gene variation modulates the microstructure of human white matter in the corpus callosum.
Brain Struct Funct
; 223(8): 3875-3887, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30094605
15.
Cognitive Control Processes and Functional Cerebral Asymmetries: Association with Variation in the Handedness-Associated Gene LRRTM1.
Mol Neurobiol
; 55(3): 2268-2274, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28321770
16.
Myelin Genes and the Corpus Callosum: Proteolipid Protein 1 (PLP1) and Contactin 1 (CNTN1) Gene Variation Modulates Interhemispheric Integration.
Mol Neurobiol
; 54(10): 7908-7916, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27864734
17.
Left-Right Axis Differentiation and Functional Lateralization: a Haplotype in the Methyltransferase Encoding Gene SETDB2 Might Mediate Handedness in Healthy Adults.
Mol Neurobiol
; 53(9): 6355-6361, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26572639
18.
Homozygosity mapping and sequencing identify two genes that might contribute to pointing behavior in hunting dogs.
Canine Genet Epidemiol
; 2: 5, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26401333
19.
Handedness and the X chromosome: the role of androgen receptor CAG-repeat length.
Sci Rep
; 5: 8325, 2015 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-25659367
20.
Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families.
Invest Ophthalmol Vis Sci
; 56(13): 8045-53, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26720455