[Genetic studies in familial hyperlipoproteinemia, and therapeutic implications]

Classical LCAT deficiency resulting from a novel homozygous dinucleotide deletion in exon 4 of the human lecithin: cholesterol acyltransferase gene causing a frameshift and stop codon at residue 144.

Atherosclerosis·1999

Assessment of French patients with LPL deficiency for French Canadian mutations.

Journal of medical genetics·1997

Compound heterozygote for both rare apolipoprotein E1 (Gly127-->Asp, Arg158-->Cys) and E3(Cys112-->Arg, Arg251-->Gly) alleles in a multigeneration pedigree with hyperlipoproteinaemia.

Clinical science (London, England : 1979)·1997

A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry.

Human mutation·1997

Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene.

The New England journal of medicine·1996

Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.

American journal of human genetics·1996

[Evaluation of analytical transferability between two methods for measuring serum iron levels using Ferrozine and Ferene S].

Annales de biologie clinique·2026

[Point-of-care testing: presentation and methodology of a multidisciplinary working group].

Annales de biologie clinique·2026

[Paediatric Gaucher disease type 1: diagnostic challenges in presence of hepatosplenomegaly and pancytopenia].

Annales de biologie clinique·2026

[Immunoglobulin D lambda multiple myeloma: diagnosis guided by light chain deposition nephropathy].

Annales de biologie clinique·2026

[Alpha-thalassemia with Hb G-Philadelphia incidentally discovered during HbA1c testing].

Annales de biologie clinique·2026

[The role of the heart-on-a-chip to drug evaluation].

Annales de biologie clinique·2026

AGG repeat expansion and aggregation of BIN1 in multiple system atrophy.

Brain : a journal of neurology·2026

[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics·2026

[Pathogenicity analysis and prenatal genetic counseling for five Chinese pedigrees harboring a hemizygous c.-32C>G variant of FGF13 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics·2026

Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

Therapeutic advances in rare disease·2026

Systematic genotype-phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22-q23 deletions.

Journal of human genetics·2026

Autism mutations rewire protein interaction networks to drive neurodevelopmental pathology.

Science (New York, N.Y.)·2026

Related Experiment Videos

[Genetic studies in familial hyperlipoproteinemia, and therapeutic implications]

Related Concept Videos

Classical LCAT deficiency resulting from a novel homozygous dinucleotide deletion in exon 4 of the human lecithin: cholesterol acyltransferase gene causing a frameshift and stop codon at residue 144.

Assessment of French patients with LPL deficiency for French Canadian mutations.

Compound heterozygote for both rare apolipoprotein E1 (Gly127-->Asp, Arg158-->Cys) and E3(Cys112-->Arg, Arg251-->Gly) alleles in a multigeneration pedigree with hyperlipoproteinaemia.

A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry.

Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene.

Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.

[Evaluation of analytical transferability between two methods for measuring serum iron levels using Ferrozine and Ferene S].

[Point-of-care testing: presentation and methodology of a multidisciplinary working group].

[Paediatric Gaucher disease type 1: diagnostic challenges in presence of hepatosplenomegaly and pancytopenia].

[Immunoglobulin D lambda multiple myeloma: diagnosis guided by light chain deposition nephropathy].

[Alpha-thalassemia with Hb G-Philadelphia incidentally discovered during HbA1c testing].

[The role of the heart-on-a-chip to drug evaluation].

AGG repeat expansion and aggregation of BIN1 in multiple system atrophy.

[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

[Pathogenicity analysis and prenatal genetic counseling for five Chinese pedigrees harboring a hemizygous c.-32C>G variant of FGF13 gene].

Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

Systematic genotype-phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22-q23 deletions.

Autism mutations rewire protein interaction networks to drive neurodevelopmental pathology.

Related Experiment Videos

[Genetic studies in familial hyperlipoproteinemia, and therapeutic implications]

Related Concept Videos

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