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Peptidase-deficient mutants of Escherichia coli.

• Charles G. Miller, Gerard Schwartz
• Journal of bacteriology
• 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… (More)

Insulin autoantibodies in the pre-diabetic period: Correlation with islet cell antibodies and development of diabetes

• Betty Dean, Frank Becker, +4 authors Dr. G. F. Bottazzo
• Diabetologia
• 1986

IgG and IgM class insulin autoantibodies were measured by an enzyme-linked immunosorbent assay in sera from members of the Barts-Windsor-Middlesex prospective family study for Type 1… (More)

Wear, creep, and frictional heating of femoral implant articulating surfaces and the effect on long-term performance--Part II, Friction, heating, and torque.

• James A Davidson, Gerard Schwartz, Gary Lynch, Srikant Gir
• Journal of biomedical materials research
• 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.… (More)

A single origin of phenylketonuria in Yemenite Jews

• Smadar Avigad, Bernard E. Cohen, +5 authors Y. Shiloh
• Nature
• 1990

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… (More)

A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.

• Dani Bercovich, Arava Elimelech, +10 authors Yair Anikster
• Annals of human genetics
• 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… (More)

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

• Michal Weinstein, Randy C. Eisensmith, +6 authors Y. Shiloh
• Human Genetics
• 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… (More)

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

• Smadar Avigad, S J Kleiman, +4 authors Y. Shiloh
• American journal of human genetics
• 1991

Hyperphenylalaninemia (HPA) results from defective hydroxylation of phenylalanine in the liver, in most cases because of defective phenylalanine hydroxylase. HPA is highly variable, ranging from… (More)

Genotype–phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene

• Dani Bercovich, Arava Elimelech, +10 authors Yair Anikster
• Journal of Human Genetics
• 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… (More)

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

• Yair Anikster, Tobias B. Haack, +37 authors Manuel Schiff
• American journal of human genetics
• 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… (More)

Molecular analysis of HLA-DQ and -DP genes in caucasoid patients with Hashimoto's thyroiditis.

• Zu-liang Wu, Henry A. F. Stephens, +6 authors Gian Franco Bottazzo
• Tissue antigens
• 1994

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