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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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Variations in the APP gene promoter region and risk of Alzheimer disease

Neurology, 2007-02, Vol.68 (9), p.684-687

2007

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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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Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation

Neurology, 2000-11, Vol.55 (10), p.1577-1579

2000

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The promoter −194 C polymorphism of the nicotinic alpha 7 receptor gene has a protective effect against the P50 sensory gating deficit

Molecular psychiatry, 2004-03, Vol.9 (3), p.320-322

2004

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The -2 bp deletion in exon 6 of the 'alpha 7-like' nicotinic receptor subunit gene is a risk factor for the P50 sensory gating deficit

Molecular psychiatry, 2002-01, Vol.7 (9), p.1006-1011

2002

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Comparison of a quantitative PCR method with FISH for the assessment of the four aneuploidies commonly evaluated in CLL patients

Leukemia, 2007-07, Vol.21 (7), p.1460-1463

2007

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APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

Nature genetics, 2006-01, Vol.38 (1), p.24-26

2006

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Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu)

Neurology, 2003-10, Vol.61 (8), p.1136-1137

2003

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The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene

Journal of medical genetics, 2003-01, Vol.40 (1), p.e7-7

2003

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73. Can tear staining and skin lesions be used to assess pig welfare?

Animal - Science Proceedings, 2024-08, Vol.15 (4), p.290-290

2024

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Early-Onset Autosomal Dominant Alzheimer Disease: Prevalence, Genetic Heterogeneity, and Mutation Spectrum

American journal of human genetics, 1999-09, Vol.65 (3), p.664-670

1999

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PRODH mutations and hyperprolinemia in a subset of schizophrenic patients

Human molecular genetics, 2002-09, Vol.11 (19), p.2243-2249

2002

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Bilateral hypoglossal nerve stimulation for treatment of obstructive sleep apnea

Sleep medicine, 2019-12, Vol.64, p.S100-S101

2019

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A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease

Human mutation, 2000-07, Vol.16 (1), p.95-95

2000

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A polymorphic variant of the gene coding desmoglein 1, the target autoantigen of pemphigus foliaceus, is associated with the disease

Genes and immunity, 2001-02, Vol.2 (1), p.41-43

2001

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Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments

Cancer research (Chicago, Ill.), 2000-06, Vol.60 (11), p.2760-2763

2000

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Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene

Oncogene, 2003-02, Vol.22 (6), p.840-846

2003

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Pemphigus is not associated with allotypic markers of immunoglobulin kappa

Genes and immunity, 2002-02, Vol.3 (1), p.50-52

2002

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Comparison of Structural Characteristics of Antisubnucleosome and Anti-DNA Monoclonal Antibodies Derived from Lupus Mice

Annals of the New York Academy of Sciences, 1997-04, Vol.815 (1), p.327-330

1997

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Acd, a peptidoglycan hydrolase of Clostridium difficile with N-acetylglucosaminidase activity

Microbiology (Society for General Microbiology), 2005-07, Vol.151 (Pt 7), p.2343-2351

2005

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Immunoglobin Variable-Region mRNA Direct Sequencing: A Method to Bypass Aberrant Myeloma Light-Chain Transcripts

BioTechniques, 1996-10, Vol.21 (4), p.576-580

1996

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Mutations in the neuroserpin gene are rare in familial dementia

Annals of neurology, 2000-05, Vol.47 (5), p.688-688

French Alzheimer's Disease and Fronto-Temporal Dementia Genetics Study Groups

2000

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Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2003-05, Vol.119B (1), p.114-117

2003

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A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24

Brain (London, England : 1878), 2004-09, Vol.127 (9), p.1979-1992

2004

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

Variations in the APP gene promoter region and risk of Alzheimer disease

Hyperprolinemia is a risk factor for schizoaffective disorder

Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation

The promoter −194 C polymorphism of the nicotinic alpha 7 receptor gene has a protective effect against the P50 sensory gating deficit

The -2 bp deletion in exon 6 of the 'alpha 7-like' nicotinic receptor subunit gene is a risk factor for the P50 sensory gating deficit

Comparison of a quantitative PCR method with FISH for the assessment of the four aneuploidies commonly evaluated in CLL patients

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu)

The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene

73. Can tear staining and skin lesions be used to assess pig welfare?

Early-Onset Autosomal Dominant Alzheimer Disease: Prevalence, Genetic Heterogeneity, and Mutation Spectrum

PRODH mutations and hyperprolinemia in a subset of schizophrenic patients

Bilateral hypoglossal nerve stimulation for treatment of obstructive sleep apnea

A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease

A polymorphic variant of the gene coding desmoglein 1, the target autoantigen of pemphigus foliaceus, is associated with the disease

Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments

Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene

Pemphigus is not associated with allotypic markers of immunoglobulin kappa

Comparison of Structural Characteristics of Antisubnucleosome and Anti-DNA Monoclonal Antibodies Derived from Lupus Mice

Acd, a peptidoglycan hydrolase of Clostridium difficile with N-acetylglucosaminidase activity

Immunoglobin Variable-Region mRNA Direct Sequencing: A Method to Bypass Aberrant Myeloma Light-Chain Transcripts

Mutations in the neuroserpin gene are rare in familial dementia

Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation

A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24

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