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THU-249 The role of the ferroptosis brake glutathione peroxidase 4 in a preclinical model of metabolic dysfunction-associated steatohepatitis

Journal of hepatology, 2024-06, Vol.80, p.S581-S582

2024

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CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1

European journal of human genetics : EJHG, 1995, Vol.3 (5), p.273-284

1995

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WED-446 - Unravelling the role of iron-catalysed ferroptotic cell death in non-alcoholic steatohepatitis

Journal of hepatology, 2023-06, Vol.78, p.S764-S764

2023

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Unravelling the role of iron-catalysed ferroptotic cell death in non-alcoholic steatohepatitis

Journal of hepatology, 2023-06, Vol.78, p.S764

2023

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A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28)

Human mutation, 1996, Vol.8 (4), p.391-391

1996

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Evidence for somatic and germline mosaicism in CRASH syndrome

Human mutation, 1998, Vol.11 (S1), p.S284-S287

1998

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Segregation of the fragile X mutation from an affected male to his normal daughter

Human molecular genetics, 1992-10, Vol.1 (7), p.511-515

1992

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L1-Associated Diseases: Clinical Geneticists Divide, Molecular Geneticists Unite

Human molecular genetics, 1997-01, Vol.6 (10), p.1625-1632

1997

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A point mutation in the FMR-1 gene associated with fragile X mental retardation

Nature genetics, 1993-01, Vol.3 (1), p.31-35

1993

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Positional Cloning of a Gene Involved in Hereditary Multiple Exostoses

Human molecular genetics, 1996-10, Vol.5 (10), p.1547-1557

1996

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Genotype-phenotype correlation in L1 associated diseases

Journal of medical genetics, 1998-05, Vol.35 (5), p.399-404

1998

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Gonosomal mosaicism in myotonic dystrophy patients: Involvement of mitotic events in (CTG)[sub n] repeat variation and selection against extreme expansion in sperm

American journal of human genetics, 1994-04, Vol.54:4

1994

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The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm

Nature genetics, 1993-06, Vol.4 (2), p.143-146

1993

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Erratum to “High incidence of the CFTR mutations 3272-26A → G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A → G, E588V, and 1671insTATCA)” [Journal of Cystic Fibrosis 6(2007)371–375]

Journal of cystic fibrosis, 2008-09, Vol.7 (5), p.461-461

2008

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High incidence of the CFTR mutations 3272-26A → G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A → G, E588V, and 1671insTATCA)

Journal of cystic fibrosis, 2007-11, Vol.6 (6), p.371-375

2007

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MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM

Nature genetics, 1994-07, Vol.7 (3), p.408-413

1994

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A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11

American journal of human genetics, 1999-11, Vol.65 (5), p.1406-1412

1999

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A duplication in the L1CAM gene associated with X-linked hydrocephalus

Nature genetics, 1993-08, Vol.4 (4), p.421-425

1993

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X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene

Human molecular genetics, 1994-12, Vol.3 (12), p.2255-2256

1994

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Further localization of X-linked hydrocephalus in the chromosomal region Xq28

American journal of human genetics, 1992-08, Vol.51 (2), p.307-315

1992

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Apparent regression of the CGG repeat in FMR1 to an allele of normal size

Human genetics, 1994-11, Vol.94 (5), p.523-526

1994

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Localization of a Gene Responsible for Nonspecific Mental Retardation (MRX9) to the Pericentromeric Region of the X Chromosome

Genomics (San Diego, Calif.), 1993-11, Vol.18 (2), p.290-294

1993

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Founder effect in a Belgian-Dutch fragile X population

Human genetics, 1993-10, Vol.92 (3), p.269-272

1993

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Assignment of X-linked hydrocephalus to Xq28 by linkage analysis

Genomics (San Diego, Calif.), 1990-10, Vol.8 (2), p.367-370

1990

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THU-249 The role of the ferroptosis brake glutathione peroxidase 4 in a preclinical model of metabolic dysfunction-associated steatohepatitis

CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1

Ferroptosis is a targetable detrimental factor in metabolic dysfunction-associated steatotic liver disease

WED-446 - Unravelling the role of iron-catalysed ferroptotic cell death in non-alcoholic steatohepatitis

Unravelling the role of iron-catalysed ferroptotic cell death in non-alcoholic steatohepatitis

A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28)

Evidence for somatic and germline mosaicism in CRASH syndrome

Segregation of the fragile X mutation from an affected male to his normal daughter

L1-Associated Diseases: Clinical Geneticists Divide, Molecular Geneticists Unite

A point mutation in the FMR-1 gene associated with fragile X mental retardation

Positional Cloning of a Gene Involved in Hereditary Multiple Exostoses

Genotype-phenotype correlation in L1 associated diseases

Gonosomal mosaicism in myotonic dystrophy patients: Involvement of mitotic events in (CTG)[sub n] repeat variation and selection against extreme expansion in sperm

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm

Erratum to “High incidence of the CFTR mutations 3272-26A → G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A → G, E588V, and 1671insTATCA)” [Journal of Cystic Fibrosis 6(2007)371–375]

High incidence of the CFTR mutations 3272-26A → G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A → G, E588V, and 1671insTATCA)

MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM

A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11

A duplication in the L1CAM gene associated with X-linked hydrocephalus

X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene

Further localization of X-linked hydrocephalus in the chromosomal region Xq28

Apparent regression of the CGG repeat in FMR1 to an allele of normal size

Localization of a Gene Responsible for Nonspecific Mental Retardation (MRX9) to the Pericentromeric Region of the X Chromosome

Founder effect in a Belgian-Dutch fragile X population

Assignment of X-linked hydrocephalus to Xq28 by linkage analysis

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