Detalhe da pesquisa
1.
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy.
J Med Genet
; 58(11): 783-788, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32938693
2.
Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.
PLoS Genet
; 15(3): e1008075, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30917130
3.
A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4.
Int J Mol Sci
; 22(15)2021 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34360843
4.
A novel biplanar medial opening-wedge high tibial osteotomy: the Z-shaped technique. A case series at 7.2 years follow-up.
J Orthop Traumatol
; 22(1): 53, 2021 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34905126
5.
Dissecting molecular mechanisms of resistance to NOTCH1-targeted therapy in T-cell acute lymphoblastic leukemia xenografts.
Haematologica
; 105(5): 1317-1328, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31467126
6.
Double missense mutations in cardiac myosin-binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy.
Ann Noninvasive Electrocardiol
; 25(3): e12687, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31524317
7.
Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations: Revisiting phenotype after genetic assessment in a master runner athlete.
J Electrocardiol
; 53: 95-99, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30716529
8.
New clinical features in an adult patient with Skraban-Deardorff syndrome.
Am J Med Genet A
; 191(1): 306-309, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36269129
9.
Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.
Am J Med Genet A
; 176(2): 391-398, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29193617
10.
Sudden cardiac death in J wave syndrome with short QT associated to a novel mutation in Nav 1.8 coding gene SCN10A: First case report for a possible pharmacogenomic role.
J Electrocardiol
; 51(5): 809-813, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30177317
11.
Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature.
Am J Med Genet A
; 173(7): 1922-1930, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28407409
12.
Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.
Mol Cell Probes
; 33: 24-27, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28263784
13.
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.
Genet Med
; 17(5): 396-9, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25232855
14.
Microdeletion of 12q24.31: report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms.
Am J Med Genet A
; 167A(2): 438-44, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25428890
15.
Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation.
Am J Med Genet A
; 167A(12): 3130-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26333487
16.
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2.
BMC Med Genet
; 15: 88, 2014 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-25056293
17.
TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.
Am J Med Genet A
; 164A(3): 828-33, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24458984
18.
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene.
Genes (Basel)
; 15(4)2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674365
19.
Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment.
Genes (Basel)
; 14(10)2023 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37895307
20.
A t(4;13)(q21;q14) translocation in B-cell chronic lymphocytic leukemia causing concomitant homozygous DLEU2/miR15a/miR16-1 and heterozygous ARHGAP24 deletions.
Cancer Genet
; 272-273: 16-22, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36641997