Triphalangeal thumb–polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer
Sun, M, Ma, F, Zeng, X, Liu, Q, Zhao, X-L, Wu, F-X, Wu, G-P, Zhang, Z-F, Gu, B, Zhao, Y-F, Tian, S-H, Lin, B, Kong, X-Y, Zhang, X-L, Yang, W, Lo, W H-Y, Zhang, X
Published in Journal of medical genetics (01.09.2008)
Published in Journal of medical genetics (01.09.2008)
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Three novel mutations of the EDA gene in Chinese patients with X-linked hypohidrotic ectodermal dysplasia
Zhao, J., Hua, R., Zhao, X., Meng, Y., Ao, Y., Liu, Q., Shang, D., Sun, M., Lo, W.H-Y., Zhang, X.
Published in British journal of dermatology (1951) (01.03.2008)
Published in British journal of dermatology (1951) (01.03.2008)
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Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria
Liu, Q., Jiang, L., Liu, W-L., Kang, X-J., Ao, Y., Sun, M., Luo, Y., Song, Y., Lo, W.H.Y., Zhang, X.
Published in British journal of dermatology (1951) (01.04.2006)
Published in British journal of dermatology (1951) (01.04.2006)
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Journal Article
Polymorphic microsatellites and Wilson disease (WD)
STEWART, E. A, WHITE, A, SEO, J. K, LO, W. H.-Y, IVANOVA-SMOLENSKAYA, I. A, LIMBORSKA, S. A, CAVALLI-SFORZA, L. L, FARRER, L. A, BOWCOCK, A. M, TOMFOHRDE, J, OSBORNE-LAWRENCE, S, PRESTRIDGE, L, BONNE-TAMIR, B, SCHEINBERG, I. H, GEORGE-HYSLOP, P. ST, GIAGHEDDU, M, KIM, J.-W
Published in American journal of human genetics (01.10.1993)
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Published in American journal of human genetics (01.10.1993)
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Another pedigree with pure autosomal dominant spastic paraplegia (AD-FSP) from Tibet mapping to 14q11.2-q24.3
HUANG, S, ZHUYU, LI, H, LABU, BAIZHU, LO, W. H. Y, FISCHER, C, VOGEL, F
Published in Human genetics (01.10.1997)
Published in Human genetics (01.10.1997)
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Cloning and sequencing of a beta-thalassemia gene from south China
Wang, T, Zhou, X Y, Huang, S, Wang, S W, Cai, R L, Liu, G Y, Yang, S R, Lo, W H
Published in Hemoglobin (1988)
Published in Hemoglobin (1988)
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The Spectrum of β-Thalassemia Genes in China and Southeast Asia
Kazazian, Haig H., Dowling, Carol E., Waber, Pamela G., Huang, Shangzhi, Lo, Wilson H.Y.
Published in Blood (01.10.1986)
Published in Blood (01.10.1986)
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Missense mutations prevalent in orientals with phenylketonuria: Molecular characterization and clinical implications
Wang, Tao, Okano, Yoshiyuki, Eisensmith, Randy C., Lo, Wilson H.Y., Huang, Shu-Zhen, Zeng, Yi-Tao, Yuan, Li-Fang, Liu, Shen-Ru, Woo, Savio L.C.
Published in Genomics (San Diego, Calif.) (01.06.1991)
Published in Genomics (San Diego, Calif.) (01.06.1991)
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Founder Effect of a Prevalent Phenylketonuria Mutation in the Oriental Population
Wang, Tao, Okano, Yoshiyuki, Eisensmith, Randy C., Harvey, Michele L., Wilson H. Y. Lo, Huang, Shu-Zhen, Zeng, Yi-Tao, Yuan, Li-Fang, Furuyama, Jun-Ichi, Oura, Toshiaki, Sommer, Steve S., Savio L. C. Woo
Published in Proceedings of the National Academy of Sciences - PNAS (15.03.1991)
Published in Proceedings of the National Academy of Sciences - PNAS (15.03.1991)
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Molecular genetics of phenylketonuria in Orientals: linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene
TAO WANG, OKANO, Y, EISENSMITH, R, SU-ZHEN HUANG, YI-TAO ZENG, LO, W. H. Y, WOO, S. L. C
Published in American journal of human genetics (01.11.1989)
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Published in American journal of human genetics (01.11.1989)
Journal Article
Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in Asian families with phenylketonuria (PKU)
DAIGER, S. P, REED, L, TADA, K, WOO, S. L. C, SHU-SHEN HUANG, YI-TAO ZENG, TAO WANG, LO, W. H. Y, OKANO, Y, HASE, Y, FUKUDA, Y, OURA, T
Published in American journal of human genetics (01.08.1989)
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Published in American journal of human genetics (01.08.1989)
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Identification of a novel phyenylketonuria (PKU) mutation in the Chinese : further evidence for multiple origins of PKU in Asia
TAO WANG, OKANO, Y, EISENSMITH, R. C, LO, W. H. Y, SHU-ZHEN HUANG, YI-TAO ZENG, WOO, S. L. C
Published in American journal of human genetics (1991)
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Published in American journal of human genetics (1991)
Journal Article
Fragile X syndrome (Martin-Bell syndrome) in China
Zhao, Y, Shen, Y, Liu, Y, Zhang, J C, Ye, L Z, Ma, S W, Lo, W H, Wu, G Y, Cheng, Z Y, Zhang, X Z
Published in American journal of medical genetics (01.02.1991)
Published in American journal of medical genetics (01.02.1991)
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Identification of three novel PKU mutations among Chinese: Evidence for recombination or recurrent mutation at the PAH locus
Wang, Tao, Okano, Yoshiyuki, Eisensmith, Randy C., Lo, Wilson H.Y., Huang, Shu-Zhen, Zeng, Yi-Tao, Yuan, Li-Fang, Liu, Shen-Ru, Woo, Savio L.C.
Published in Genomics (San Diego, Calif.) (1992)
Published in Genomics (San Diego, Calif.) (1992)
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Journal Article
Identification of three novel missense PKU mutations among Chinese
Li, Jia, Eisensmith, Randy C., Wang, Tao, Lo, Wilson H.Y., Huang, Shu-Zhen, Zeng, Yi-Tao, Yuan, Li-Fang, Liu, Shen-Ru, Woo, Savio L.C.
Published in Genomics (San Diego, Calif.) (01.07.1992)
Published in Genomics (San Diego, Calif.) (01.07.1992)
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