Woo SL - Search Results

1

Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria.

Avigad S, Kleiman S, Weinstein M, Cohen BE, Schwartz G, Woo SL, Shiloh Y. Avigad S, et al. Among authors: woo sl. Am J Hum Genet. 1991 Aug;49(2):393-9. Am J Hum Genet. 1991. PMID: 1867197 Free PMC article.

2

Origins of hyperphenylalaninemia in Israel.

Kleiman S, Avigad S, Vanagaite L, Shmuelevitz A, David M, Eisensmith RC, Brand N, Schwartz G, Rey F, Munnich A, Woo SL, Shiloh Y. Kleiman S, et al. Among authors: woo sl. Eur J Hum Genet. 1994;2(1):24-34. doi: 10.1159/000472338. Eur J Hum Genet. 1994. PMID: 7913865

3

A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria.

Weinstein M, Eisensmith RC, Abadie V, Avigad S, Lyonnet S, Schwartz G, Munnich A, Woo SL, Shiloh Y. Weinstein M, et al. Among authors: woo sl. Hum Genet. 1993 Feb;90(6):645-9. doi: 10.1007/BF00202483. Hum Genet. 1993. PMID: 8095248

4

Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote.

Kleiman S, Vanagaite L, Bernstein J, Schwartz G, Brand N, Elitzur A, Woo SL, Shiloh Y. Kleiman S, et al. Among authors: woo sl. J Med Genet. 1993 Apr;30(4):284-8. doi: 10.1136/jmg.30.4.284. J Med Genet. 1993. PMID: 8487271 Free PMC article.

5

Inactivation of phenylalanine hydroxylase by a missense mutation, R270S, in a Palestinian kinship with phenylketonuria.

Kleiman S, Li J, Schwartz G, Eisensmith RC, Woo SL, Shiloh Y. Kleiman S, et al. Among authors: woo sl. Hum Mol Genet. 1993 May;2(5):605-6. doi: 10.1093/hmg/2.5.605. Hum Mol Genet. 1993. PMID: 8518802 No abstract available.

6

A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs.

Kleiman S, Bernstein J, Schwartz G, Eisensmith RC, Woo SL, Shiloh Y. Kleiman S, et al. Among authors: woo sl. Hum Mutat. 1992;1(4):340-3. doi: 10.1002/humu.1380010413. Hum Mutat. 1992. PMID: 1301942

7

A 22-bp deletion in the phenylalanine hydroxylase gene causing phenylketonuria in an Arab family.

Kleiman S, Schwartz G, Woo SL, Shiloh Y. Kleiman S, et al. Among authors: woo sl. Hum Mutat. 1992;1(4):344-6. doi: 10.1002/humu.1380010414. Hum Mutat. 1992. PMID: 1301943 No abstract available.

8

A single origin of phenylketonuria in Yemenite Jews.

Avigad S, Cohen BE, Bauer S, Schwartz G, Frydman M, Woo SL, Niny Y, Shiloh Y. Avigad S, et al. Among authors: woo sl. Nature. 1990 Mar 8;344(6262):168-70. doi: 10.1038/344168a0. Nature. 1990. PMID: 1968617

9

PAH 399 GTA (Val)----GTT(Val), a new silent mutation found in the Chinese.

Huang SZ, Ren ZR, Zeng YT, Woo SL. Huang SZ, et al. Among authors: woo sl. Hum Genet. 1991 Jan;86(3):305-6. doi: 10.1007/BF00202416. Hum Genet. 1991. PMID: 1997387

10

Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene.

Goltsov AA, Eisensmith RC, Konecki DS, Lichter-Konecki U, Woo SL. Goltsov AA, et al. Among authors: woo sl. Am J Hum Genet. 1992 Sep;51(3):627-36. Am J Hum Genet. 1992. PMID: 1353941 Free PMC article.

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