Detalhe da pesquisa
1.
[Screening and Identification of lncRNA Related to Adipocity of Bone Marrow Microenvironment in Aplastic Anemia].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
; 32(2): 610-616, 2024 Apr.
Artigo
Chinês
| MEDLINE | ID: mdl-38660874
2.
[The clinical patterns and RET proto-oncogene identification of pheochromocytoma in 13 multiple endocrine neoplasia type 2A pedigrees].
Zhonghua Yi Xue Za Zhi
; 93(28): 2200-4, 2013 Jul 23.
Artigo
Chinês
| MEDLINE | ID: mdl-24169328
3.
[Clinical diagnosis and treatment of familial medullary thyroid carcinoma caused by a p.C618Y RET proto-oncogene mutation in a Chinese pedigree].
Zhonghua Yi Xue Za Zhi
; 93(6): 440-4, 2013 Feb 05.
Artigo
Chinês
| MEDLINE | ID: mdl-23660264
4.
A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined with knuckle pads and camptodactyly.
Eur J Dermatol
; 21(5): 675-9, 2011.
Artigo
Inglês
| MEDLINE | ID: mdl-21715251
5.
Deletion analysis of SMN1 and NAIP genes in Southern Chinese children with spinal muscular atrophy.
J Zhejiang Univ Sci B
; 10(1): 29-34, 2009 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-19198020
6.
Mitochondrion and its related disorders: making a comeback.
J Zhejiang Univ Sci B
; 9(2): 90-2, 2008 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-18257129
7.
CRISPR/Cas9-Mediated Treatment Ameliorates the Phenotype of the Epidermolytic Palmoplantar Keratoderma-like Mouse.
Mol Ther Nucleic Acids
; 12: 220-228, 2018 Sep 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30195761
8.
[Research advances in human mitochondrial DNA with aging and degenerative diseases].
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 36(1): 93-7, 2007 01.
Artigo
Chinês
| MEDLINE | ID: mdl-17290499
9.
Recurrent FBN1 mutation (R62C) in a Chinese family with isolated ectopia lentis.
Am J Ophthalmol
; 141(6): 1136-8, 2006 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-16765689
10.
Eukaryotic translation initiation factor 5A2 regulates the migration and invasion of hepatocellular carcinoma cells via pathways involving reactive oxygen species.
Oncotarget
; 7(17): 24348-60, 2016 Apr 26.
Artigo
Inglês
| MEDLINE | ID: mdl-27028999
11.
A Small Indel Mutant Mouse Model of Epidermolytic Palmoplantar Keratoderma and Its Application to Mutant-specific shRNA Therapy.
Mol Ther Nucleic Acids
; 5: e299, 2016 Mar 22.
Artigo
Inglês
| MEDLINE | ID: mdl-27003758
12.
[PCR products with heterozygous mutations containing two types of heteroduplexes].
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 34(5): 417-20, 2005 09.
Artigo
Chinês
| MEDLINE | ID: mdl-16216052
13.
A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree.
Int J Ophthalmol
; 8(6): 1112-7, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26682157
14.
Missense mutation of keratin 9 (c.487C>T (p.R163W) in southern Chinese patients with epidermolytic palmoplantar keratoderma.
Eur J Dermatol
; 19(3): 265-6, 2009.
Artigo
Inglês
| MEDLINE | ID: mdl-19223272
15.
[Association analysis between attention-deficit hyperactivity disorder and Val158Met polymorphism of catechol-O-methyltransferase gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 20(4): 322-4, 2003 Aug.
Artigo
Chinês
| MEDLINE | ID: mdl-12903043
16.
[Present status of the molecular genetics in epidermolytic palmoplantar keratoderma].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 21(4): 372-5, 2004 Aug.
Artigo
Chinês
| MEDLINE | ID: mdl-15300637
17.
KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma.
Gene
; 546(1): 124-8, 2014 Aug 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24862219
18.
p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees.
Mol Med Rep
; 8(3): 799-805, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23842656
19.
Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations.
Gene
; 516(1): 93-100, 2013 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-23266634
20.
Complete mitochondrial DNA sequence analysis in two southern Chinese pedigrees with Leber hereditary optic neuropathy revealed secondary mutations along with the primary mutation.
Int J Ophthalmol
; 5(1): 28-31, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22553750