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Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia

Atherosclerosis, 2019-05, Vol.284, p.75-82

2019

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Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia

Journal of lipid research, 2012-03, Vol.53 (3), p.548-555

2012

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Splicing analysis of 26 F8 nucleotide variations using a minigene assay

Haemophilia : the official journal of the World Federation of Hemophilia, 2019-03, Vol.25 (2), p.306-315

2019

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Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization

American journal of human genetics, 2018-02, Vol.102 (2), p.199-206

2018

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Combined Use of In Silico and In Vitro Splicing Assays for Interpretation of Genomic Variants of Unknown Significance in Cardiomyopathies and Channelopathies

Cardiogenetics, 2012-06, Vol.2 (1), p.e6-e6

2012

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New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene

Journal of cardiovascular electrophysiology, 2015-10, Vol.26 (10), p.1146-1150

2015

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Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

Genomics (San Diego, Calif.), 1991-05, Vol.10 (1), p.214-228

1991

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SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease

Neurology, 2013-10, Vol.81 (17), p.1523

2013

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Functional characterization of putative novel splicing mutations in the cardiomyopathy-causing genes

DNA and cell biology, 2015-07, Vol.34 (7), p.489

2015

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Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy

Journal of medical genetics, 2012-02, Vol.49 (2), p.146-150

2012

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Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residue

Biochemical journal, 1997-08, Vol.326 ( Pt 1) (1), p.243-247

1997

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Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients

Clinical genetics, 1998-05, Vol.53 (5), p.362-368

1998

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Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia: Functional analysis of two new MTTP mutations

Journal of lipid research, 2012-03, Vol.53 (3), p.548-55

2012

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Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain

Human mutation, 2007-06, Vol.28 (6), p.563-570

2007

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Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion

Biochemical journal, 2007-03, Vol.402 (2), p.377-385

2007

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U1 snRNA mis-binding: a new cause of CMT1B

Neurogenetics, 2010-02, Vol.11 (1), p.13-19

2010

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Genetic determination of exocrine pancreatic function in cystic fibrosis

American journal of human genetics, 1992-06, Vol.50 (6), p.1178-1184

1992

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CFTR genotypes in patients with normal or borderline sweat chloride levels

Human mutation, 2003-10, Vol.22 (4), p.340-340

2003

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POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome

Mitochondrion, 2011-01, Vol.11 (1), p.223-227

2011

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Identification of Mutations in Regions Corresponding to the Two Putative Nucleotide (ATP)-Binding Folds of the Cystic Fibrosis Gene

Proceedings of the National Academy of Sciences - PNAS, 1990-11, Vol.87 (21), p.8447-8451

1990

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Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1

American journal of medical genetics, 2005-01, Vol.132A (1), p.80-83

2005

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MPS II in females: molecular basis of two different cases

Journal of medical genetics, 2000-10, Vol.37 (10), p.e29-29

2000

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Progressive reversion of clinical and molecular phenotype in a child with liver mitochondrial DNA depletion

Journal of hepatology, 2002-05, Vol.36 (5), p.698-703

2002

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Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia

Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France[S]

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia

Splicing analysis of 26 F8 nucleotide variations using a minigene assay

Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization

Combined Use of In Silico and In Vitro Splicing Assays for Interpretation of Genomic Variants of Unknown Significance in Cardiomyopathies and Channelopathies

New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease

Functional characterization of putative novel splicing mutations in the cardiomyopathy-causing genes

Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy

Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residue

Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia: Functional analysis of two new MTTP mutations

Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain

Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion

U1 snRNA mis-binding: a new cause of CMT1B

Genetic determination of exocrine pancreatic function in cystic fibrosis

CFTR genotypes in patients with normal or borderline sweat chloride levels

POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome

Identification of Mutations in Regions Corresponding to the Two Putative Nucleotide (ATP)-Binding Folds of the Cystic Fibrosis Gene

Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1

MPS II in females: molecular basis of two different cases

Progressive reversion of clinical and molecular phenotype in a child with liver mitochondrial DNA depletion

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