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- Publications
- Influence
Molecular analysis of HLA-DQ and -DP genes in caucasoid patients with Hashimoto's thyroiditis.
- Z. Wu, H. A. Stephens, +6 authors G. Bottazzo
- Medicine
- Tissue antigens
- 1 February 1994
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
- Y. Anikster, T. Haack, +37 authors M. Schiff
- Biology, Medicine
- American journal of human genetics
- 2 February 2017
Phenylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn error of metabolism, can be detected through newborn screening for hyperphenylalaninemia (HPA). Most individuals with HPA harbor… Expand
A Mutation Analysis of the Phenylalanine Hydroxylase (PAH) Gene in the Israeli Population
- D. Bercovich, A. Elimelech, +10 authors Y. Anikster
- Biology, Medicine
- Annals of human genetics
- 1 May 2008
Hyperphenylalaninemia (HPA) is a group of diseases characterized by a persistent elevation of phenylalanine levels in tissues and biological fluids. The most frequent form is phenylalanine… Expand
Peptidase-deficient mutants of Escherichia coli.
- C. G. Miller, G. Schwartz
- Medicine, Biology
- Journal of bacteriology
- 1 August 1978
Mutant derivatives of Escherichia coli K-12 deficient in several peptidases have been obtained. Mutants lacking a naphthylamidase, peptidase N, were isolated by screening for colonies unable to… Expand
Wear, creep, and frictional heating of femoral implant articulating surfaces and the effect on long-term performance--Part II, Friction, heating, and torque.
- J. A. Davidson, G. Schwartz, G. Lynch, S. Gir
- Materials Science, Medicine
- Journal of biomedical materials research
- 1 April 1988
In Part I, (J.A. Davidson and G. Schwartz, "Wear, creep, and frictional heating of femoral implant articulating surfaces and the effect on long-term performance--Part I, A review," J. Biomed. Mater.… Expand
Genotype–phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene
- D. Bercovich, A. Elimelech, +10 authors Y. Anikster
- Biology, Medicine
- Journal of Human Genetics
- 26 February 2008
AbstractThe aims of our research were to define the genotype–phenotype correlations of mutations in the phenylalanine hydroxylase (PAH) gene that cause phenylketonuria (PKU) among the Israeli… Expand
A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in North African Jews with phenylketonuria
- M. Weinstein, Randy C. Eisensmith, +6 authors Y. Shiloh
- Biology, Medicine
- Human Genetics
- 1 February 1993
The majority of hyperphenylalaninemias (HPAs) result from mutations at the gene for phenylalanine hydroxylase (PAH). The broad phenotypic variability of these conditions, ranging from phenylketonuria… Expand
A single origin of phenylketonuria in Yemenite Jews
PHENYLKETONURIA (PKU) is a metabolic disease caused by recessive mutations of the gene encoding the hepatic enzyme phenylalanine hydroxylase (PAH). The incidence of PKU varies widely across different… Expand
Wear, creep, and frictional heat of femoral implant articulating surfaces and the effect on long-term performance--Part I, A review.
- J. A. Davidson, G. Schwartz
- Engineering, Medicine
- Journal of biomedical materials research
- 1 December 1987
Creep and wear of articulating reconstructed joints is a complex process, resulting in adverse tissue response, decreased range of motion, and eventual revision. As improvements are made in the… Expand
Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote.
- S. Kleiman, L. Vanagaite, +5 authors Y. Shiloh
- Biology, Medicine
- Journal of medical genetics
- 1 April 1993
Phenylketonuria (PKU) and benign hyperphenylalaninaemia (HPA) result from a variety of mutations in the gene for the hepatic enzyme phenylalanine hydroxylase. PKU has been found in the Israeli… Expand