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Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort

Journal of medical genetics, 2015-11, Vol.52 (11), p.770-778

2015

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Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent

British journal of haematology, 2004-06, Vol.125 (5), p.674-678

2004

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MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

Journal of medical genetics, 2010-01, Vol.47 (1), p.22-29

2010

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Valosin-containing protein gene mutations: clinical and neuropathologic features

Neurology, 2006-08, Vol.67 (4), p.644

2006

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Danon’s disease as a cause of hypertrophic cardiomyopathy: a systematic survey

Heart (British Cardiac Society), 2004-08, Vol.90 (8), p.842-846

2004

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Molecular basis of the Li–Fraumeni syndrome: an update from the French LFS families

Journal of medical genetics, 2008-08, Vol.45 (8), p.535-538

2008

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Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene

Journal of medical genetics, 2008-07, Vol.45 (7), p.438-446

2008

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Clinical relevance of KRAS mutation detection in metastatic colorectal cancer treated by Cetuximab plus chemotherapy

British journal of cancer, 2007-04, Vol.96 (8), p.1166-1169

2007

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High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

Molecular psychiatry, 2012-09, Vol.17 (9), p.875-879

2012

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Functional analysis of chemically-induced mutations at the flounder TP53 locus, the FACIM assay

Mutation research, 2004-08, Vol.552 (1), p.51-60

2004

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Molecular determinants of anti-EGFR sensitivity and resistance in metastatic colorectal cancer

British journal of cancer, 2010-12, Vol.103 (12), p.1765-1772

2010

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P53 germline mutations in childhood cancers and cancer risk for carrier individuals

Breast cancer research and treatment, 2000-06, Vol.82 (12), p.1932-1937

2000

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Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method

Journal of medical genetics, 2001-04, Vol.38 (4), p.240-243

2001

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De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease

Molecular psychiatry, 2015-09, Vol.20 (9), p.1046-1056

2015

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A cryopyrin-associated periodic syndrome with joint destruction

Rheumatology (Oxford, England), 2007-04, Vol.46 (4), p.709-714

2007

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Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

European journal of endocrinology, 2001-04, Vol.144 (4), p.347

2001

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17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression

Molecular psychiatry, 2017-08, Vol.22 (8), p.1119-1125

2017

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LMO2-Associated Clonal T Cell Proliferation in Two Patients after Gene Therapy for SCID-X1

Science (American Association for the Advancement of Science), 2003-10, Vol.302 (5644), p.415-419

2003

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Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

JNCI : Journal of the National Cancer Institute, 2007-02, Vol.99 (4), p.291-299

2007

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The three nucleotide deletion within the 3′untranslated region of MLH1 resulting in gene expression reduction is not a causal alteration in Lynch syndrome

Familial cancer, 2008-12, Vol.7 (4), p.339-340

2008

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Unusual Phenotypic Alteration of β Amyloid Precursor Protein (β APP) Maturation by a New Val-715 → Met β APP-770 Mutation Responsible for Probable Early-Onset Alzheimer's Disease

Proceedings of the National Academy of Sciences - PNAS, 1999-03, Vol.96 (7), p.4119-4124

1999

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The European flounder ( Platichthys flesus) TP53 functions as a temperature-sensitive transcription factor which inhibits cell growth in yeast

Gene, 2004-01, Vol.324, p.97-104

2004

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Molecular diagnosis of autosomal dominant early onset Alzheimer’s disease: an update

Journal of medical genetics, 2005-10, Vol.42 (10), p.793-795

2005

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Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome

Journal of medical genetics, 2006-06, Vol.43 (6), p.531-533

2006

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Hyperprolinemia is a risk factor for schizoaffective disorder

Molecular psychiatry, 2005-05, Vol.10 (5), p.479-485

2005

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Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort

Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

Valosin-containing protein gene mutations: clinical and neuropathologic features

Danon’s disease as a cause of hypertrophic cardiomyopathy: a systematic survey

Molecular basis of the Li–Fraumeni syndrome: an update from the French LFS families

Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene

Clinical relevance of KRAS mutation detection in metastatic colorectal cancer treated by Cetuximab plus chemotherapy

High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

Functional analysis of chemically-induced mutations at the flounder TP53 locus, the FACIM assay

Molecular determinants of anti-EGFR sensitivity and resistance in metastatic colorectal cancer

P53 germline mutations in childhood cancers and cancer risk for carrier individuals

Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method

De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease

A cryopyrin-associated periodic syndrome with joint destruction

Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression

LMO2-Associated Clonal T Cell Proliferation in Two Patients after Gene Therapy for SCID-X1

Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

The three nucleotide deletion within the 3′untranslated region of MLH1 resulting in gene expression reduction is not a causal alteration in Lynch syndrome

Unusual Phenotypic Alteration of β Amyloid Precursor Protein (β APP) Maturation by a New Val-715 → Met β APP-770 Mutation Responsible for Probable Early-Onset Alzheimer's Disease

The European flounder ( Platichthys flesus) TP53 functions as a temperature-sensitive transcription factor which inhibits cell growth in yeast

Molecular diagnosis of autosomal dominant early onset Alzheimer’s disease: an update

Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome

Hyperprolinemia is a risk factor for schizoaffective disorder

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