Eisensmith RC - Search Results

1

Haplotypes and mutations of the PAH locus in Egyptian families with PKU.

Effat L, Kuzmin A, Kasem N, Meguid NA, Kotb S, Eisensmith RC, Temtamy SA, Rushdi S, Woo S, el-Awady M. Effat L, et al. Among authors: eisensmith rc. Eur J Hum Genet. 1999 Feb-Mar;7(2):259-62. doi: 10.1038/sj.ejhg.5200270. Eur J Hum Genet. 1999. PMID: 10196714

2

Complete spectrum of PAH mutations in Tataria: presence of Slavic, Turkic and Scandinavian mutations.

Kuzmin AI, Eisensmith RC, Goltsov AA, Sergeeva NA, Schwartz EI, Woo SL. Kuzmin AI, et al. Among authors: eisensmith rc. Eur J Hum Genet. 1995;3(4):246-55. doi: 10.1159/000472305. Eur J Hum Genet. 1995. PMID: 8528673

3

Molecular basis of PKU in China.

Lo WH, Wang T, Eisensmith R, Woo SL. Lo WH, et al. Chin Med Sci J. 1993 Sep;8(3):180-5. Chin Med Sci J. 1993. PMID: 8142636 No abstract available.

4

Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.

Eisensmith RC, Woo SL. Eisensmith RC, et al. Hum Mutat. 1992;1(1):13-23. doi: 10.1002/humu.1380010104. Hum Mutat. 1992. PMID: 1301187 Review.

5

Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus.

Eisensmith RC, Woo SL. Eisensmith RC, et al. Am J Hum Genet. 1992 Dec;51(6):1445-8. Am J Hum Genet. 1992. PMID: 1361103 Free PMC article. No abstract available.

6

Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.

Okano Y, Wang T, Eisensmith RC, Steinmann B, Gitzelmann R, Woo SL. Okano Y, et al. Among authors: eisensmith rc. Am J Hum Genet. 1990 Jan;46(1):18-25. Am J Hum Genet. 1990. PMID: 1967207 Free PMC article.

7

Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.

Eisensmith RC, Goltsov AA, O'Neill C, Tyfield LA, Schwartz EI, Kuzmin AI, Baranovskaya SS, Tsukerman GL, Treacy E, Scriver CR, et al. Eisensmith RC, et al. Am J Hum Genet. 1995 Jan;56(1):278-86. Am J Hum Genet. 1995. PMID: 7825588 Free PMC article.

8

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: eisensmith rc. Eur J Hum Genet. 1994;2(1):24-34. doi: 10.1159/000472338. Eur J Hum Genet. 1994. PMID: 7913865

9

Three polymorphisms but no disease-causing mutations in the proximal part of the promoter of the phenylalanine hydroxylase gene.

Svensson E, Wang Y, Eisensmith RC, Hagenfeldt L, Woo SL. Svensson E, et al. Among authors: eisensmith rc. Eur J Hum Genet. 1993;1(4):306-13. doi: 10.1159/000472429. Eur J Hum Genet. 1993. PMID: 8081944

10

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: eisensmith rc. Hum Genet. 1993 Feb;90(6):645-9. doi: 10.1007/BF00202483. Hum Genet. 1993. PMID: 8095248

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