Detalhe da pesquisa
1.
[Analysis and clinical application of preimplantation genetic testing for monogenic disorders in a case with Spinal muscular atrophy "2+0" genotype].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
41(3): 294-299, 2024 Mar 10.
Artigo
em Zh
| MEDLINE
| ID: mdl-38448017
2.
A novel multifunctional haplotyping-based preimplantation genetic testing for different genetic conditions.
Hum Reprod;
37(11): 2546-2559, 2022 10 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36066440
3.
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).
J Med Genet;
58(1): 41-47, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32381727
4.
Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements.
Genome Res;
28(8): 1228-1242, 2018 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29907612
5.
Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice.
J Med Genet;
57(6): 371-379, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31888956
6.
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.
Hum Mutat;
41(1): 182-195, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31471994
7.
Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.
Kidney Int;
98(4): 1020-1030, 2020 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32450157
8.
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.
Genet Med;
21(7): 1548-1558, 2019 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30636772
9.
Perturbations of BMP/TGF-ß and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM).
J Med Genet;
55(10): 675-684, 2018 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30120215
10.
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
Hum Genet;
137(9): 689-703, 2018 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30046887
11.
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
Hum Genet;
137(6-7): 553-567, 2018 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30019117
12.
Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD).
J Hum Genet;
63(11): 1119-1128, 2018 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30115950
13.
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
Am J Med Genet A;
176(4): 1015-1022, 2018 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29436111
14.
Correlation between frequency of non-allelic homologous recombination and homology properties: evidence from homology-mediated CNV mutations in the human genome.
Hum Mol Genet;
24(5): 1225-33, 2015 Mar 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25324539
15.
SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans.
J Hum Genet;
61(11): 917-922, 2016 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27383657
16.
Evaluation of copy number variation detection for a SNP array platform.
BMC Bioinformatics;
15: 50, 2014 Feb 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24555668
17.
The infertile individual analysis based on whole-exome sequencing in chinese multi-ethnic groups.
Genes Genomics;
45(4): 531-542, 2023 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36115009
18.
NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy.
Hum Genet;
131(7): 1217-24, 2012 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22367439
19.
Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification.
J Hum Genet;
57(8): 545-51, 2012 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22673690
20.
[Copy number variations in the human genome: their mutational mechanisms and roles in diseases].
Yi Chuan;
33(8): 857-69, 2011 Aug.
Artigo
em Zh
| MEDLINE
| ID: mdl-21831802