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Mutations of the Flavin-Containing Monooxygenase Gene (FMO3) cause Trimethylaminuria, a Defect in Detoxication

Human molecular genetics, 1998-05, Vol.7 (5), p.839-845

1998

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Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases

Human molecular genetics, 1996-01, Vol.5 (1), p.1-14

1996

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Trimethylaminuria Is Caused by Mutations of the FMO3 Gene in a North American Cohort

Molecular genetics and metabolism, 1999-09, Vol.68 (1), p.24-31

1999

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Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria

Journal of inherited metabolic disease, 1999-05, Vol.22 (3), p.208-212

1999

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Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease

American journal of human genetics, 1991-11, Vol.49 (5), p.1041-1054

1991

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Two novel mutations of the FMO3 gene in a proband with trimethylaminuria

Human mutation, 1999, Vol.13 (5), p.376-379

1999

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Mutations participating in interallelic complementation in propionic acidemia

American journal of human genetics, 1994-07, Vol.55 (1), p.51-58

1994

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Population-specific polymorphisms of the human FMO3 gene: significance for detoxication

Drug metabolism and disposition, 2000-02, Vol.28 (2), p.169

2000

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Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease

American journal of human genetics, 1997-05, Vol.60 (5), p.1099-1106

1997

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A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening

American journal of human genetics, 1992-10, Vol.51 (4), p.793-801

1992

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Characterization of Phenylketonuria Missense Substitutions, Distant from the Phenylalanine Hydroxylase Active Site, Illustrates a Paradigm for Mechanism and Potential Modulation of Phenotype

Molecular genetics and metabolism, 2000-02, Vol.69 (2), p.101-110

2000

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A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease

Human molecular genetics, 1995-04, Vol.4 (4), p.777-780

1995

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In Vivo Variability of TMA Oxidation Is Partially Mediated by Polymorphisms of the FMO3 Gene

Molecular genetics and metabolism, 2001-07, Vol.73 (3), p.224-229

2001

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Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease

Human mutation, 1995, Vol.5 (2), p.186-187

1995

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Reflections on the birth of conjoined twins

Canadian Medical Association journal (CMAJ), 2007-11, Vol.177 (10), p.1235

Poole, Richard F

2007

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A novel deletion in the flavin-containing monooxygenase gene (FMO3) in a Greek patient with trimethylaminuria

Pharmacogenetics (London), 2001-03, Vol.11 (2), p.169-174

2001

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A mutation common in non-jewish Tay-Sachs disease: Frequency and RNA studies

Human mutation, 1992, Vol.1 (4), p.303-309

1992

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Identification of deletion and triple α-globin gene haplotypes in the montreal β-thalassemia screening program: Implications for genetic medicine

American journal of medical genetics, 1990-05, Vol.36 (1), p.76-84

1990

Volltextzugriff (PDF)

Characterization of Phenylketonuria Missense Substitutions, Distant from the Phenylalanine Hydroxylase Active Site, Illustrates a Paradigm for Mechanism and Potential Modulation of Phenotype

Molecular genetics and metabolism, 2001-01, Vol.72 (1), p.89

2001

Volltextzugriff (PDF)

Donor splice site mutation in intron 5 of theHEXA gene in a Turkish infant with Tay-Sachs disease

Human mutation, 1995, Vol.5 (2), p.186-187

1995

Volltextzugriff (PDF)

Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch

Human mutation, 1992, Vol.1 (4), p.298-302

1992

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A pseudodeficiency allele common inn non-jewish Tay-Sachs carriers : implications for carrier screening

American journal of human genetics, 1992, Vol.51 (4), p.793-801

1992

Volltextzugriff (PDF)

Exercise Thermoregulation in Prepubertal Children: A Brief Methodological Review

Medicine and science in sports and exercise, 2020-11, Vol.52 (11), p.2412-2422

2020

Volltextzugriff (PDF)

Clues for early detection of autoimmune Addison's disease – myths and realities

Journal of internal medicine, 2018-02, Vol.283 (2), p.190-199

2018

Volltextzugriff (PDF)

Advances in Magnetics Roadmap on Spin-Wave Computing

IEEE transactions on magnetics, 2022-06, Vol.58 (6), p.1-72

2022

Volltextzugriff (PDF)

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Mutations of the Flavin-Containing Monooxygenase Gene (FMO3) cause Trimethylaminuria, a Defect in Detoxication

Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases

Trimethylaminuria Is Caused by Mutations of the FMO3 Gene in a North American Cohort

Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria

Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease

Two novel mutations of the FMO3 gene in a proband with trimethylaminuria

Mutations participating in interallelic complementation in propionic acidemia

Population-specific polymorphisms of the human FMO3 gene: significance for detoxication

Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease

A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening

Characterization of Phenylketonuria Missense Substitutions, Distant from the Phenylalanine Hydroxylase Active Site, Illustrates a Paradigm for Mechanism and Potential Modulation of Phenotype

A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease

In Vivo Variability of TMA Oxidation Is Partially Mediated by Polymorphisms of the FMO3 Gene

Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease

Reflections on the birth of conjoined twins

A novel deletion in the flavin-containing monooxygenase gene (FMO3) in a Greek patient with trimethylaminuria

A mutation common in non-jewish Tay-Sachs disease: Frequency and RNA studies

Identification of deletion and triple α-globin gene haplotypes in the montreal β-thalassemia screening program: Implications for genetic medicine

Characterization of Phenylketonuria Missense Substitutions, Distant from the Phenylalanine Hydroxylase Active Site, Illustrates a Paradigm for Mechanism and Potential Modulation of Phenotype

Donor splice site mutation in intron 5 of theHEXA gene in a Turkish infant with Tay-Sachs disease

Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch

A pseudodeficiency allele common inn non-jewish Tay-Sachs carriers : implications for carrier screening

Exercise Thermoregulation in Prepubertal Children: A Brief Methodological Review

Clues for early detection of autoimmune Addison's disease – myths and realities

Advances in Magnetics Roadmap on Spin-Wave Computing

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