Articles by author - Joe Leigh Simpson

Novel non-synonymous mutation in the transforming growth factor beta binding protein-like (TB) domain of the fibrillin-1 (FBN1) gene in a Han Chinese family with Marfan syndrome (MFS).

Qin Y, Yan J, Simpson J, Gu H, Wang L, Chen Z.

Journal Article 2007; 28(5): 629-632 PubMed PMID: 17984934  Keywords:  Adult, Amino Acid Substitution, China, Female, Fibrillin-1, Fibrillins, Genetic Predisposition to Disease, Humans, Latent TGF-beta Binding Proteins:metabolism, Male, Marfan Syndrome:genetics, Microfilament Proteins:genetics, Middle Aged, Mutation, Missens.    Citation

: In order to further understand the role of fibrillin-1 (FBN1, OMIM 134797) perturbations in the pathogenesis of Marfan syndrome (MFS, OM.....

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Detection of genomic imbalances by comparative genomic hybridization in Chinese fetuses with malformations.

Wang Y, Meng J, Wang X, Zhao Y, Wang L, Simpson J, Chen Z.

Comparative Study 2007; 28(4): 406-409 PubMed PMID: 17693969  Keywords:  Aneuploidy, Asian Continental Ancestry Group:genetics, China, Congenital Abnormalities:ethnology, DNA:genetics, Female, Fetus:abnormalities, Fluorescent Dyes, Genomic Instability:genetics, Humans, Male, Nucleic Acid Hybridization:methods, Reproducibility .    Citation

AIM: The purpose of the study was to evaluate the feasibility and reliability of comparative genomic hybridization (CGH) in the detection .....

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