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Familial ligand-defective apolipoprotein B-100: Simultaneous detection of the ARG3500→GLN and ARG3531→CYS mutations in a French population

Human mutation, 1997, Vol.10 (2), p.160-163

1997

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Goosecoid-like (GSCL), a Candidate Gene for Velocardiofacial Syndrome, Is Not Essential for Normal Mouse Development

Human molecular genetics, 1998-11, Vol.7 (12), p.1841-1849

1998

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Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia

Human mutation, 1995, Vol.6 (1), p.87-88

1995

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Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method

Human mutation, 1992, Vol.1 (4), p.325-332

1992

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Identification of the haplotype associated with the APOB-3500 mutation in a French hypercholesterolemic subject: Further support for a unique European ancestral mutation

Human mutation, 1993, Vol.2 (2), p.145-147

1993

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A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1-p32

American journal of human genetics, 1999-05, Vol.64 (5), p.1378-1387

1999

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Characterization and Mutation Analysis of Goosecoid-like (GSCL), a Homeodomain-Containing Gene That Maps to the Critical Region for VCFS/DGS on 22q11

Genomics (San Diego, Calif.), 1997-12, Vol.46 (3), p.364-372

1997

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Normal Cardiovascular Development in Mice Deficient for 16 Genes in 550 kb of the Velocardiofacial/DiGeorge Syndrome Region

Proceedings of the National Academy of Sciences - PNAS, 2000-08, Vol.97 (18), p.10090-10095

2000

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Comparative Mapping of the Human 22q11 Chromosomal Region and the Orthologous Region in Mice Reveals Complex Changes in Gene Organization

Proceedings of the National Academy of Sciences - PNAS, 1997-12, Vol.94 (26), p.14608-14613

1997

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Identification, Characterization, and Precise Mapping of a Human Gene Encoding a Novel Membrane-Spanning Protein from the 22q11 Region Deleted in Velo–Cardio–Facial Syndrome

Genomics (San Diego, Calif.), 1997-06, Vol.42 (2), p.245-251

1997

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Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene

Human genetics, 1993-06, Vol.91 (5), p.511-512

1993

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Isolation and Characterization of a Human Gene Containing a Nuclear Localization Signal from the Critical Region for Velo–Cardio–Facial Syndrome on 22q11

Genomics (San Diego, Calif.), 1998-10, Vol.53 (2), p.146-154

1998

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Molecular analysis of apo(a) fragmentation in polygenic hypercholesterolemia: characterization of a new plasma fragment pattern

Arteriosclerosis, thrombosis, and vascular biology, 2001-08, Vol.21 (8), p.1353-1358

2001

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Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects

European journal of human genetics : EJHG, 2000-08, Vol.8 (8), p.621-630

2000

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Large-scale gene expression analysis of lipid core-loaded macrophages reveals upregulation of transcription factors

Atherosclerosis. Supplements, 2001-05, Vol.2 (2), p.37-37

2001

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ER confirmed as the location of mystery organelles in Arabidopsis plants expressing GFP

Trends in plant science, 2001-06, Vol.6 (6), p.245-246

2001

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Familial ligand-defective apolipoprotein B-100: Simultaneous detection of the ARG3500→GLN and ARG3531→CYS mutations in a French population

Goosecoid-like (GSCL), a Candidate Gene for Velocardiofacial Syndrome, Is Not Essential for Normal Mouse Development

Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia

Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method

Identification of the haplotype associated with the APOB-3500 mutation in a French hypercholesterolemic subject: Further support for a unique European ancestral mutation

A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1-p32

Characterization and Mutation Analysis of Goosecoid-like (GSCL), a Homeodomain-Containing Gene That Maps to the Critical Region for VCFS/DGS on 22q11

Normal Cardiovascular Development in Mice Deficient for 16 Genes in 550 kb of the Velocardiofacial/DiGeorge Syndrome Region

Comparative Mapping of the Human 22q11 Chromosomal Region and the Orthologous Region in Mice Reveals Complex Changes in Gene Organization

Identification, Characterization, and Precise Mapping of a Human Gene Encoding a Novel Membrane-Spanning Protein from the 22q11 Region Deleted in Velo–Cardio–Facial Syndrome

Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene

Isolation and Characterization of a Human Gene Containing a Nuclear Localization Signal from the Critical Region for Velo–Cardio–Facial Syndrome on 22q11

Molecular analysis of apo(a) fragmentation in polygenic hypercholesterolemia: characterization of a new plasma fragment pattern

Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects

Large-scale gene expression analysis of lipid core-loaded macrophages reveals upregulation of transcription factors

ER confirmed as the location of mystery organelles in Arabidopsis plants expressing GFP

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