Lu-yun Li
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Explore the profile of Lu-yun Li including associated specialties, affiliations and a list of published articles.
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44
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Recent Articles
1.
He W, Hu X, Tang W, Li L, Lu G, Li W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
. 2013 Aug;
30(4):385-8.
PMID: 23926000
Objective: To screen for potential mutations of KIT gene for two Chinese families affected with piebaldism in order to facilitate genetic counseling and assisted reproduction. Methods: Peripheral blood samples were...
2.
Hu J, Tan K, Cheng D, Li L, Lu G, Tan Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
. 2013 Mar;
30(1):87-90.
PMID: 23450488
Objective: To determine the karyotype of a boy suspected to have Cri du Chat syndrome with severe clinical manifestations, and to assess the recurrence risk for his family. Methods: High-resolution...
3.
Cheng D, Gong F, Lu C, Li L, Lu G, Tan Y
J Assist Reprod Genet
. 2012 Sep;
29(11):1299-304.
PMID: 23001237
No abstract available.
4.
Li W, Zhou L, Gao B, Li L, Zhong C, Gong F, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
. 2011 Aug;
28(4):361-6.
PMID: 21811971
Objective: To screen mutations of tuberous sclerosis complex (TSC) patients to confirm a clinical diagnosis of TSC, and to perform prenatal diagnosis for families with mutations. Methods: In this study,...
5.
Li W, Liu J, Li L, Lu G
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
. 2011 Jun;
28(3):251-5.
PMID: 21644217
Objective: Mutation screening was performed in a pedigree of Glanzmann's thrombasthenia (GT) and prenatal diagnosis was performed. Methods: In this study, reverse transcription-PCR-sequencing and PCR-sequencing, as well as restriction fragment...
6.
Li W, Hu X, Gao B, Li L, Liao Y, Tang X, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
. 2011 Apr;
28(2):127-32.
PMID: 21462120
Objective: To identify the F VIII gene mutations of patients and suspected female carriers in 10 Hemophilia A (HA) families, and to guide the prenatal diagnosis. Methods: PCR, denaturinghigh performance...
7.
Xu F, Cheng D, Di Y, Tan K, Li L, Lu G, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
. 2010 Oct;
27(5):524-9.
PMID: 20931530
Objective: To determine the karyotype of a patient with Prader-Willi-like syndrome features. Methods: Chromosomal high resolution banding was carried out to analyze the karyotype of the patient, and methylation-specific PCR...
8.
Mutation Analysis and Prenatal Exclusion of Fibrodysplasia Ossificans Progressiva in a Chinese Fetus
Du J, Huang L, Tan Y, Cheng D, Li S, Li L, et al.
Genet Test Mol Biomarkers
. 2010 Jan;
PMID: 20059392
Aims: Fibrodysplasia ossificans progressiva (FOP) is a rare and severely disabling autosomal dominant disorder characterized by congenital malformations of the great toes and progressive postnatal heterotopic ossification. A point mutation...
9.
Cheng D, Tan Y, Di Y, Li L, Lu G
Fertil Steril
. 2009 Jun;
92(2):828.e3-6.
PMID: 19524892
Objective: To identify a cryptic Y chromosome fragment that resulted from a X;Y translocation in a patient with premature ovarian failure (POF) and analyze the karyotype-phenotype correlation. Design: Case report....
10.
Dai C, Li W, Gao B, Li L, Lu G
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
. 2008 Aug;
25(4):373-7.
PMID: 18683130
Objective: To identify the mutations of the tyrosinase gene (TYR) and P gene in patients with oculocutaneous albinism (OCA). Methods: Polymerase chain reaction (PCR) and denaturing high performance liquid chromatography...