Search details
1.
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.
Am J Hum Genet
; 107(1): 124-136, 2020 07 02.
Article
in English
| MEDLINE | ID: mdl-32574564
2.
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
Ann Neurol
; 89(3): 485-497, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33236446
3.
The SNP rs560426 Within ABCA4-ARHGAP29 Locus and the Risk of Nonsyndromic Oral Clefts.
Cleft Palate Craniofac J
; 57(6): 671-677, 2020 06.
Article
in English
| MEDLINE | ID: mdl-31950859
4.
Association Studies Between Regulatory Regions of IRF6/TP63 Genes and Nonsyndromic Oral Clefts.
Cleft Palate Craniofac J
; 56(6): 778-785, 2019 07.
Article
in English
| MEDLINE | ID: mdl-30419764
5.
Targeted Next Generation Sequencing for Genetic Mutations of Dilated Cardiomyopathy.
Acta Cardiol Sin
; 35(6): 571-584, 2019 Nov.
Article
in English
| MEDLINE | ID: mdl-31879508
6.
Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.
J Biomed Sci
; 25(1): 72, 2018 Oct 05.
Article
in English
| MEDLINE | ID: mdl-30290804
7.
SLC22A5 Mutations in a Patient With Systemic Primary Carnitine Deficiency and Cleft Palate-Successful Perioperative Management.
J Craniofac Surg
; 29(6): 1601-1603, 2018 Sep.
Article
in English
| MEDLINE | ID: mdl-29750726
8.
Gene-gene interaction of single nucleotide polymorphisms in 16p13.3 may contribute to the risk of non-syndromic cleft lip with or without cleft palate in Chinese case-parent trios.
Am J Med Genet A
; 173(6): 1489-1494, 2017 Jun.
Article
in English
| MEDLINE | ID: mdl-28402597
9.
Nonsynonymous variants in MYH9 and ABCA4 are the most frequent risk loci associated with nonsyndromic orofacial cleft in Taiwanese population.
BMC Med Genet
; 17(1): 59, 2016 08 15.
Article
in English
| MEDLINE | ID: mdl-27527345
10.
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
Mov Disord
; 31(7): 1041-8, 2016 07.
Article
in English
| MEDLINE | ID: mdl-27090768
11.
[Association study between candidate genes on transforming growth factor-ß signaling pathway and the risk of non-syndromic cleft lip with or without cleft palate in Chinese populations].
Beijing Da Xue Xue Bao Yi Xue Ban
; 47(3): 384-9, 2015 Jun 18.
Article
in Zh
| MEDLINE | ID: mdl-26080863
12.
Lower lip pits: van der woude or kabuki syndrome?
Cleft Palate Craniofac J
; 51(6): 729-34, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-24088119
13.
Examining markers in 8q24 to explain differences in evidence for association with cleft lip with/without cleft palate between Asians and Europeans.
Genet Epidemiol
; 36(4): 392-9, 2012 May.
Article
in English
| MEDLINE | ID: mdl-22508319
14.
A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts.
BMC Med Genet
; 14: 37, 2013 Mar 20.
Article
in English
| MEDLINE | ID: mdl-23510002
15.
Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease.
J Hum Genet
; 58(11): 720-7, 2013 Nov.
Article
in English
| MEDLINE | ID: mdl-23985799
16.
X-linked markers in the Duchenne muscular dystrophy gene associated with oral clefts.
Eur J Oral Sci
; 121(2): 63-8, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23489894
17.
[Association study for gene polymorphism of folic acid/homocysteine metabolic pathway and nonsyndromic cleft lip with or without cleft palate in Chinese populations].
Beijing Da Xue Xue Bao Yi Xue Ban
; 45(3): 352-8, 2013 Jun 18.
Article
in Zh
| MEDLINE | ID: mdl-23774909
18.
Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate.
Genet Epidemiol
; 35(6): 469-78, 2011 Sep.
Article
in English
| MEDLINE | ID: mdl-21618603
19.
Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.
Am J Med Genet A
; 158A(4): 784-94, 2012 Apr.
Article
in English
| MEDLINE | ID: mdl-22419666
20.
Evidence of gene-environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palate.
Birth Defects Res A Clin Mol Teratol
; 94(2): 76-83, 2012 Feb.
Article
in English
| MEDLINE | ID: mdl-22241686