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CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

Journal of medical genetics, 2005-02, Vol.42 (2), p.103-107

2005

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Overexpression of ETV4 is oncogenic in prostate cells through promotion of both cell proliferation and epithelial to mesenchymal transition

Oncogenesis (New York, NY), 2012-07, Vol.1 (7), p.e20-e20

2012

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Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG

British journal of ophthalmology, 2011-05, Vol.95 (5), p.624-626

2011

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Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH

Journal of human genetics, 2007-06, Vol.52 (6), p.535-542

2007

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Non-syndromic X-linked mental retardation: From a molecular to a clinical point of view

Journal of cellular physiology, 2005-07, Vol.204 (1), p.8-20

2005

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Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis—a collaborative study of the Italian Renal Immunopathology Group

Nephrology, dialysis, transplantation, 2005-03, Vol.20 (3), p.545-551

2005

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2q24–q31 Deletion: Report of a case and review of the literature

European journal of medical genetics, 2007-01, Vol.50 (1), p.21-32

2007

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Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features

Clinical genetics, 2003-12, Vol.64 (6), p.497-501

2003

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CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

Human molecular genetics, 2005-07, Vol.14 (14), p.1935-1946

2005

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A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients

Journal of medical genetics, 2003-01, Vol.40 (1), p.11-17

2003

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Germline mosaicism in Rett syndrome identified by prenatal diagnosis

Clinical genetics, 2005-03, Vol.67 (3), p.258-260

2005

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Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene

Kidney international, 2004-05, Vol.65 (5), p.1598-1603

2004

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A 2.6 Mb deletion of 6q24.3–25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears

European journal of medical genetics, 2007-07, Vol.50 (4), p.315-321

2007

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A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upper lip and asymmetric dysmorphic ears

European journal of medical genetics, 2007-07, Vol.50 (4), p.315-321

2007

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Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication

Human mutation, 2004-08, Vol.24 (2), p.172-177

2004

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The Italian XLMR bank: a clinical and molecular database

Human mutation, 2007-01, Vol.28 (1), p.13-18

2007

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Genetic causes of cardiomyopathies identified by Whole Exome Sequencing

European heart journal, 2013-08, Vol.34 (suppl 1), p.2605-2605

2013

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A novel desmoplakin dominant mutation responsible for Carvajal/Naxos syndrome identified by exome sequencing

European heart journal, 2013-08, Vol.34 (suppl 1), p.P2959-P2959

2013

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Rett syndrome: the complex nature of a monogenic disease

Journal of molecular medicine (Berlin, Germany), 2003-06, Vol.81 (6), p.346-354

2003

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Forensic genetics in NGS era: New frontiers for massively parallel typing

Forensic science international. Genetics supplement series, 2015-12, Vol.5, p.e418-e419

2015

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Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families

Nephrology, dialysis, transplantation, 2006-03, Vol.21 (3), p.665-671

2006

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Evaluation of the reliability of the data generated by Next Generation Sequencing from artificially degraded DNA samples

Forensic science international. Genetics supplement series, 2015-12, Vol.5, p.e83-e85

2015

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Is Rett syndrome a loss-of-imprinting disorder?

Nature genetics, 2005-01, Vol.37 (1), p.10-11

2005

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Isolation of fetal cells from the maternal circulation: Prospects for the non-invasive prenatal diagnosis

Clinical chemistry and laboratory medicine, 2001-06, Vol.39 (6), p.494-500

2001

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Type-IV collagen related diseases

Journal of nephrology, 2003-03, Vol.16 (2), p.314-316

2003

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CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

Overexpression of ETV4 is oncogenic in prostate cells through promotion of both cell proliferation and epithelial to mesenchymal transition

Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG

Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH

Non-syndromic X-linked mental retardation: From a molecular to a clinical point of view

Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis—a collaborative study of the Italian Renal Immunopathology Group

2q24–q31 Deletion: Report of a case and review of the literature

Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients

Germline mosaicism in Rett syndrome identified by prenatal diagnosis

Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene

A 2.6 Mb deletion of 6q24.3–25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears

A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upper lip and asymmetric dysmorphic ears

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication

The Italian XLMR bank: a clinical and molecular database

Genetic causes of cardiomyopathies identified by Whole Exome Sequencing

A novel desmoplakin dominant mutation responsible for Carvajal/Naxos syndrome identified by exome sequencing

Rett syndrome: the complex nature of a monogenic disease

Forensic genetics in NGS era: New frontiers for massively parallel typing

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families

Evaluation of the reliability of the data generated by Next Generation Sequencing from artificially degraded DNA samples

Is Rett syndrome a loss-of-imprinting disorder?

Isolation of fetal cells from the maternal circulation: Prospects for the non-invasive prenatal diagnosis

Type-IV collagen related diseases

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