Detalhe da pesquisa
1.
A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient.
J Hum Genet
; 67(10): 573-577, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35691949
2.
Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia.
Hum Genet
; 140(5): 761-773, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33389130
3.
Whole-exome sequencing reveals doubly novel heterozygous Myosin Binding Protein C and Titin mutations in a Chinese patient with severe dilated cardiomyopathy.
Cardiol Young
; 28(12): 1410-1414, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30109841
4.
A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Cytogenet Genome Res
; 152(1): 16-21, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28658676
5.
Duplication of 10q22.3-q23.3 encompassing BMPR1A and NGR3 associated with congenital heart disease, microcephaly, and mild intellectual disability.
Am J Med Genet A
; 167A(12): 3174-9, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26383923
6.
Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report.
BMC Med Genomics
; 17(1): 136, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38773541
7.
A novel 7-chemokine-genes predictive signature for prognosis and therapeutic response in renal clear cell carcinoma.
Front Pharmacol
; 14: 1120562, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37021054
8.
Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome.
Am J Med Genet A
; 158A(8): 1918-23, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22786616
9.
[Experimental study of rat mesenchymal stem cells transfected with Sonic Hedgehog gene].
Zhonghua Yi Xue Za Zhi
; 92(10): 705-8, 2012 Mar 13.
Artigo
em Zh
| MEDLINE | ID: mdl-22781301
10.
Case Report: BAF-Opathies/SSRIDDs Due to a de novo ACTL6A Variant, Previously Considered to Be Heart-Hand Syndrome.
Front Cardiovasc Med
; 8: 708033, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34485408
11.
Case Report: Mutant SCN9A Susceptible to Charcot Neuroarthropathy in a Patient With Congenital Insensitivity to Pain.
Front Neurosci
; 15: 697167, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34335171
12.
CircRNA Microarray Profiling Reveals hsa_circ_0058493 as a Novel Biomarker for Imatinib-Resistant CML.
Front Pharmacol
; 12: 728916, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34588984
13.
A Novel Nonsense MMP21 Variant Causes Dextrocardia and Congenital Heart Disease in a Han Chinese Patient.
Front Cardiovasc Med
; 7: 582350, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33240936
14.
Taurine inhibits osteoblastic differentiation of vascular smooth muscle cells via the ERK pathway.
Amino Acids
; 34(4): 525-30, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18060526
15.
Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies.
Am J Med Genet A
; 158A(3): 685-8, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22307725
16.
[Familial and genetic study in a large Chinese kindred with hereditary nonpolyposis colorectal cancer].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 24(2): 227-9, 2007 Apr.
Artigo
em Zh
| MEDLINE | ID: mdl-17407090
17.
Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy.
Mol Med Rep
; 15(5): 2977-2982, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28339061
18.
A clinical and molecular analysis of a patient with Emanuel syndrome.
Mol Med Rep
; 15(3): 1348-1352, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28075445
19.
Haploinsufficiency of syncoilin leads to hypertrophic cardiomyopathy.
Genes Dis
; 9(6): 1412-1414, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36157493
20.
An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families.
Sci Rep
; 7(1): 7905, 2017 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28801648