Detalhe da pesquisa
1.
Repair of UV-Induced DNA Damage Independent of Nucleotide Excision Repair Is Masked by MUTYH.
Mol Cell
; 68(4): 797-807.e7, 2017 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29149600
2.
Aneuploidy detection in pooled polar bodies using rapid nanopore sequencing.
J Assist Reprod Genet
; 2024 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38642269
3.
Genome amplification and cellular senescence are hallmarks of human placenta development.
PLoS Genet
; 14(10): e1007698, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30312291
4.
A human haploid gene trap collection to study lncRNAs with unusual RNA biology.
RNA Biol
; 13(2): 196-220, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26670263
5.
Genetics of the human placenta: implications for toxicokinetics.
Arch Toxicol
; 90(11): 2563-2581, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27600793
6.
A novel immunodeficiency syndrome associated with partial trisomy 19p13.
J Med Genet
; 51(4): 254-63, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24431329
7.
Valproic acid inhibits the proliferation of cancer cells by re-expressing cyclin D2.
Carcinogenesis
; 34(5): 1115-24, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23349020
8.
Outcome after Prenatal Diagnosis of Trisomy 13, 18, and 21 in Fetuses with Congenital Heart Disease.
Life (Basel)
; 12(8)2022 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36013402
9.
Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.
Eur J Hum Genet
; 30(4): 428-438, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34974531
10.
Optical Genome Mapping in Routine Human Genetic Diagnostics-Its Advantages and Limitations.
Genes (Basel)
; 12(12)2021 12 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34946907
11.
Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation.
Genes (Basel)
; 12(11)2021 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34828442
12.
DNA repair polymorphisms associated with cytogenetic subgroups in B-cell chronic lymphocytic leukemia.
Genes Chromosomes Cancer
; 48(9): 760-7, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19484764
13.
Leupaxin, a novel coactivator of the androgen receptor, is expressed in prostate cancer and plays a role in adhesion and invasion of prostate carcinoma cells.
Mol Endocrinol
; 22(7): 1606-21, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18451096
14.
Exclusion from spheroid formation identifies loss of essential cell-cell adhesion molecules in colon cancer cells.
Sci Rep
; 8(1): 1151, 2018 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-29348601
15.
Asthenozoospermia in mice with targeted deletion of the sperm mitochondrion-associated cysteine-rich protein (Smcp) gene.
Mol Cell Biol
; 22(9): 3046-52, 2002 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-11940662
16.
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.
Eur J Hum Genet
; 23(9): 1186-91, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25469541
17.
Correction: Increasing Live Birth Rate by Preimplantation Genetic Screening of Pooled Polar Bodies Using Array Comparative Genomic Hybridization.
PLoS One
; 10(7): e0133334, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26176533
18.
Increasing live birth rate by preimplantation genetic screening of pooled polar bodies using array comparative genomic hybridization.
PLoS One
; 10(5): e0128317, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26024488
19.
No correlation between amount of aberrant transcript and severity of phenotype in hereditary spastic paraplegia patients with a c.1242A > G splice mutation in the SPG4 gene.
J Neurol
; 253(6): 804-5, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16362530
20.
Early embryonic lethality in gene trap mice with disruption of the Arfgef2 gene.
Int J Dev Biol
; 54(8-9): 1259-66, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20857375