Y. Wu

发表

Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections

B. Baxter, B. Mokri, R. Ferrell, 1993, Neurology.

Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV.

H. Kuivaniemi, G. Tromp, P. Narcisi, 1993, American journal of medical genetics.

Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms.

G. Tromp, D. Prockop, W. Abbott, 1993, The Journal of clinical investigation.

Microarray analysis of multiple candidate genes and associated plasma proteins for nephropathy secondary to type 2 diabetes among Chinese individuals

N. Morgenthaler, K. Chia, H. Low, 2009, Diabetologia.

SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies

S. Thibodeau, J. Cunningham, S. Hebbring, 2005, Journal of Neurology, Neurosurgery & Psychiatry.

[Study of NAIP gene in spinal muscular atrophy].

H. Ma, Y. Li, M. Jiang, 1999, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Methylenetetrahydrofolate reductase gene polymorphism and ischemic stroke: sex difference in Japanese.

K. Sumino, Y. Wu, M. Tomon, 2001, The Kobe journal of medical sciences.

LRRK2 Gly2385Arg variant is a risk factor of Parkinson’s disease among Han‐Chinese from mainland China

J. Burgunder, T. Li, R. Peng, 2008, European journal of neurology.

Lack of evidence for association of a UCH-L1 S18Y polymorphism with Parkinson's disease in a Han-Chinese population

J. Burgunder, R. Peng, Guanggu Yuan, 2008, Neuroscience Letters.

A novel mutation in the NADH-cytochrome b5 reductase gene of a Chinese patient with recessive congenital methemoglobinemia.

F. Xie, F. Lan, Y. Wu, 2000, Blood.

Association of osteoporosis with genetic variants of circadian genes in Chinese geriatrics

Y. Hong, J. Zhou, G. Yang, 2016, Osteoporosis International.

A compound heterozygote in the NADH-cytochrome b5 reductase gene from a Chinese patient with hereditary methemoglobinemia type I.

C. Huang, F. Lan, Y. Wu, 2000, International journal of hematology.

[Leu 72 Pro mutation in the NADH-cytochrome b5 reductase gene found in a Chinese hereditary methemoglobinemia patient].

C. Huang, Y. Wu, Z. Zhu, 1998, Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi.

Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern.

J. Weber, M. Tarnopolsky, G. Vladutiu, 2011, Molecular genetics and metabolism.

Antibody-based spot test for NADH-cytochrome b5 reductase activity for the laboratory diagnosis of congenital methemoglobinemia.

C. Huang, F. Lan, Y. Wu, 1998, Clinica chimica acta; international journal of clinical chemistry.