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Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways

PloS one, 2017-08, Vol.12 (8), p.e0182778-e0182778

2017

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New copy number variations in schizophrenia

PloS one, 2010-10, Vol.5 (10), p.e13422-e13422

2010

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Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Nature genetics, 2006-04, Vol.38 (4), p.452-457

2006

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Reconstructing the genetic history of Italians: new insights from a male (Y-chromosome) perspective

Annals of human biology, 2018-01, Vol.45 (1), p.44-56

2018

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Association study and mutational screening of SYNGR1 as a candidate susceptibility gene for schizophrenia

Psychiatric genetics, 2009-10, Vol.19 (5), p.237-243

2009

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Compound heterozygosity for a hemizygous rare missense variant (rs141999351) and a large CNV deletion affecting the FSTL5 gene in a patient with schizophrenia

Psychiatry research, 2017-12, Vol.258, p.598-599

2017

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Matrix Assembly Induction and Cell Migration and Invasion Inhibition by a 13-Amino Acid Fibronectin Peptide

The Journal of biological chemistry, 2003-04, Vol.278 (16), p.14346-14355

2003

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Human Fibroblasts with Mutations in COL5A1 and COL3A1 Genes Do Not Organize Collagens and Fibronectin in the Extracellular Matrix, Down-regulate α2β1 Integrin, and Recruit αvβ3 Instead of α5β1 Integrin

The Journal of biological chemistry, 2004-04, Vol.279 (18), p.18157-18168

2004

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Study on GRIA2, GRIA3 and GRIA4 genes highlights a positive association between schizophrenia and GRIA3 in female patients

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2008-09, Vol.147B (6), p.745-753

2008

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Mitochondrial DNA haplogroups and age at onset of schizophrenia

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2007-06, Vol.144B (4), p.496-501

2007

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Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome

American journal of medical genetics. Part A, 2007-01, Vol.143A (2), p.216-218

2007

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Polymorphic CA repeat in IGF-I gene: lack of association with schizophrenia

Psychiatric genetics, 2010-02, Vol.20 (1), p.44-45

2010

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Glutamate AMPA receptor subunit 1 gene (GRIA1) and DSM-IV-TR schizophrenia: A pilot case-control association study in an Italian sample

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2006-04, Vol.141B (3), p.287-293

2006

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Genotype–Phenotype Correlation in Italian Patients with Dystrophic Epidermolysis Bullosa

Journal of investigative dermatology, 2002-12, Vol.119 (6), p.1456-1462

2002

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Exclusion of candidate genes in a family with arterial tortuosity syndrome

American journal of medical genetics, 2004-04, Vol.126A (3), p.221-228

2004

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Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the Localisata variant of recessive dystrophic epidermolysis bullosa

American journal of human genetics, 1996-08, Vol.59 (2), p.292-300

1996

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Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin

The Journal of biological chemistry, 2004-04, Vol.279 (18), p.18157-18168

2004

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Human Fibroblasts with Mutations in COL5A1 and COL3A1 Genes Do Not Organize Collagens and Fibronectin in the Extracellular Matrix, Down-regulate Î±2Î²1 Integrin, and Recruit Î±vÎ²3 Instead of Î±5Î²1 Integrin

The Journal of biological chemistry, 2004-04, Vol.279 (18), p.18157

2004

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Mutations in the facilitative glucose transporter GLUT 10 alter angiogenesis and cause arterial tortuosity syndrome

Nature genetics, 2006, Vol.38 (4), p.452-457

2006

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A -96C→T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa

Human mutation, 2000-09, Vol.16 (3), p.275-275

2000

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Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: Analysis of transcript levels in dermal fibroblasts

Human mutation, 1999, Vol.13 (6), p.439-452

1999

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RT‐PCR detection of fibronectin EDA+ and EDB+ mRNA isoforms: Molecular markers for hepatocellular carcinoma

International journal of cancer, 1994-03, Vol.56 (6), p.820-825

1994

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EFFECT OF DEXAMETHASONE ON THE ASSEMBLY OF THE MATRIX OF FIBRONECTIN AND ON ITS RECEPTORS ORGANIZATION IN EHLERS-DANLOS SYNDROME SKIN FIBROBLASTS

Cell biology international, 1998-07, Vol.22 (7-8), p.499-508

1998

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Human fibronectin gene (FN1) RFLPs : mapping and linkage disequilibrium analysis

Human genetics, 1993-12, Vol.92 (6), p.639-641

1993

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The type III-9 repeat of human fibronectin is encoded by a single exon which is not alternatively spliced

Cell biology international, 1993-11, Vol.17 (11), p.989-992

1993

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Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways

New copy number variations in schizophrenia

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Reconstructing the genetic history of Italians: new insights from a male (Y-chromosome) perspective

Association study and mutational screening of SYNGR1 as a candidate susceptibility gene for schizophrenia

Compound heterozygosity for a hemizygous rare missense variant (rs141999351) and a large CNV deletion affecting the FSTL5 gene in a patient with schizophrenia

Matrix Assembly Induction and Cell Migration and Invasion Inhibition by a 13-Amino Acid Fibronectin Peptide

Human Fibroblasts with Mutations in COL5A1 and COL3A1 Genes Do Not Organize Collagens and Fibronectin in the Extracellular Matrix, Down-regulate α2β1 Integrin, and Recruit αvβ3 Instead of α5β1 Integrin

Study on GRIA2, GRIA3 and GRIA4 genes highlights a positive association between schizophrenia and GRIA3 in female patients

Mitochondrial DNA haplogroups and age at onset of schizophrenia

Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome

Polymorphic CA repeat in IGF-I gene: lack of association with schizophrenia

Glutamate AMPA receptor subunit 1 gene (GRIA1) and DSM-IV-TR schizophrenia: A pilot case-control association study in an Italian sample

Genotype–Phenotype Correlation in Italian Patients with Dystrophic Epidermolysis Bullosa

Exclusion of candidate genes in a family with arterial tortuosity syndrome

Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the Localisata variant of recessive dystrophic epidermolysis bullosa

Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin

Human Fibroblasts with Mutations in COL5A1 and COL3A1 Genes Do Not Organize Collagens and Fibronectin in the Extracellular Matrix, Down-regulate Î±2Î²1 Integrin, and Recruit Î±vÎ²3 Instead of Î±5Î²1 Integrin

Mutations in the facilitative glucose transporter GLUT 10 alter angiogenesis and cause arterial tortuosity syndrome

A -96C→T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa

Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: Analysis of transcript levels in dermal fibroblasts

RT‐PCR detection of fibronectin EDA+ and EDB+ mRNA isoforms: Molecular markers for hepatocellular carcinoma

EFFECT OF DEXAMETHASONE ON THE ASSEMBLY OF THE MATRIX OF FIBRONECTIN AND ON ITS RECEPTORS ORGANIZATION IN EHLERS-DANLOS SYNDROME SKIN FIBROBLASTS

Human fibronectin gene (FN1) RFLPs : mapping and linkage disequilibrium analysis

The type III-9 repeat of human fibronectin is encoded by a single exon which is not alternatively spliced

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