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Providing patients with pharmacogenetic test results affects adherence to statin therapy: results of the Additional KIF6 Risk Offers Better Adherence to Statins (AKROBATS) trial

The pharmacogenomics journal, 2014-06, Vol.14 (3), p.272-280

2014

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Fabry disease: twenty novel α-galactosidase A mutations causing the classical phenotype

Journal of human genetics, 2001-04, Vol.46 (4), p.192-196

2001

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Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes

Journal of investigative medicine, 2000-07, Vol.48 (4), p.227

2000

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Mucopolysaccharidosis type IV: N-Acetylgalactosamine-6-sulfatase mutations in Tunisian patients

Molecular genetics and metabolism, 2006-03, Vol.87 (3), p.213-218

2006

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Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease

Molecular medicine (Cambridge, Mass.), 1999-12, Vol.5 (12), p.806-811

1999

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Mucopolysaccharidosis I: α‐L‐Iduronidase mutations in three Tunisian families

Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.1019-1026

2005

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Fabry disease: Characterization of α-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele

Human mutation, 2003-12, Vol.22 (6), p.486-492

2003

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Detection of α-galactosidase a mutations causing fabry disease by denaturing high performance liquid chromatography

Human mutation, 2005-03, Vol.25 (3), p.299-305

2005

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Fabry disease: 45 novel mutations in the α-galactosidase A gene causing the classical phenotype

Molecular genetics and metabolism, 2002-05, Vol.76 (1), p.23-30

2002

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Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes

Molecular medicine (Cambridge, Mass.), 2002-06, Vol.8 (6), p.306-312

2002

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Fabry Disease: Novel α-Galactosidase A 3′-Terminal Mutations Result in Multiple Transcripts Due to Aberrant 3′-End Formation

American journal of human genetics, 2003-07, Vol.73 (1), p.162-173

2003

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Molecular biology of fruit ripening and its manipulation with antisense genes

Plant molecular biology, 1992-05, Vol.19 (1), p.69-87

1992

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Mucopolysaccharidosis I: [alpha]-L-Iduronidase mutations in three Tunisian families

Journal of inherited metabolic disease, 2005-11, Vol.28 (6), p.1019

2005

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Analysis of the rabbit cardiac/slow twitch muscle sarcoplasmic reticulum calcium ATPase (SERCA2) gene promoter

Nucleic acids research, 1993-06, Vol.21 (11), p.2723-2728

1993

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Two brothers with mild congenital erythropoietic porphyria due to a novel genotype

Archives of dermatology (1960), 2005-12, Vol.141 (12), p.1575

2005

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Proteins that bind DNA conferring ripening-specific expression upon the polygalacturonase gene

Shabbeer, J

1991

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Genetic architecture of human plasma lipidome and its link to cardiovascular disease

Nature communications, 2019-09, Vol.10 (1), p.4329-4329, Article 4329

2019

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Downregulation of homologous recombination DNA repair genes by HDAC inhibition in prostate cancer is mediated through the E2F1 transcription factor

PloS one, 2010-06, Vol.5 (6), p.e11208

2010

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Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

Human genomics, 2006-03, Vol.2 (5), p.297-309

2006

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Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project

The Journal of molecular diagnostics : JMD, 2010-11, Vol.12 (6), p.835-846

2010

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Abstract 290: Statin Adherence in Males and Females, and the Impact of Knowledge of a Genetic Test: Results from the AKROBATS Trial

Circulation Cardiovascular quality and outcomes, 2012-04, Vol.5 (suppl_1)

2012

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Characterization of 107 Genomic DNA Reference Materials for CYP2D6 , CYP2C19 , CYP2C9 , VKORC1 , and UGT1A1

The Journal of molecular diagnostics : JMD, 2010-11, Vol.12 (6), p.835-846

2010

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Detection of ?-galactosidase a mutations causing fabry disease by denaturing high performance liquid chromatography

Human mutation, 2005-03, Vol.25 (3), p.299-305

2005

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General practitioners’ and patients’ models of obesity: whose problem is it?

Patient education and counseling, 2001-09, Vol.44 (3), p.227-233

2001

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Fabry disease: Characterization of ?-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele

Human mutation, 2003-12, Vol.22 (6), p.486-492

2003

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Providing patients with pharmacogenetic test results affects adherence to statin therapy: results of the Additional KIF6 Risk Offers Better Adherence to Statins (AKROBATS) trial

Fabry disease: twenty novel α-galactosidase A mutations causing the classical phenotype

Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes

Mucopolysaccharidosis type IV: N-Acetylgalactosamine-6-sulfatase mutations in Tunisian patients

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease

Mucopolysaccharidosis I: α‐L‐Iduronidase mutations in three Tunisian families

Fabry disease: Characterization of α-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele

Detection of α-galactosidase a mutations causing fabry disease by denaturing high performance liquid chromatography

Fabry disease: 45 novel mutations in the α-galactosidase A gene causing the classical phenotype

Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes

Fabry Disease: Novel α-Galactosidase A 3′-Terminal Mutations Result in Multiple Transcripts Due to Aberrant 3′-End Formation

Molecular biology of fruit ripening and its manipulation with antisense genes

Mucopolysaccharidosis I: [alpha]-L-Iduronidase mutations in three Tunisian families

Analysis of the rabbit cardiac/slow twitch muscle sarcoplasmic reticulum calcium ATPase (SERCA2) gene promoter

Two brothers with mild congenital erythropoietic porphyria due to a novel genotype

Proteins that bind DNA conferring ripening-specific expression upon the polygalacturonase gene

Genetic architecture of human plasma lipidome and its link to cardiovascular disease

Downregulation of homologous recombination DNA repair genes by HDAC inhibition in prostate cancer is mediated through the E2F1 transcription factor

Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project

Abstract 290: Statin Adherence in Males and Females, and the Impact of Knowledge of a Genetic Test: Results from the AKROBATS Trial

Characterization of 107 Genomic DNA Reference Materials for CYP2D6 , CYP2C19 , CYP2C9 , VKORC1 , and UGT1A1

Detection of ?-galactosidase a mutations causing fabry disease by denaturing high performance liquid chromatography

General practitioners’ and patients’ models of obesity: whose problem is it?

Fabry disease: Characterization of ?-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele

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