I. Longo

发表

FOXG1 is responsible for the congenital variant of Rett syndrome.

Alessandra Renieri, Ottavia Spiga, Giuseppe Hayek, 2008, American journal of human genetics.

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.

G. Mazzucco, G. Frascà, D. Roccatello, 2002, Kidney international.

13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay

T. Hadjistilianou, D. Galimberti, A. Pinto, 2021, Genes.

Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma.

N. Orzalesi, A. Renieri, A. Caporossi, 2003, Archives of ophthalmology.

Clinical and molecular characterization of Italian patients affected by Cohen syndrome

R. Tenconi, A. Federico, F. Brancati, 2007, Journal of Human Genetics.

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

I. Winship, A. Renieri, F. Mari, 2006, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma

A. Renieri, F. Mari, A. Caporossi, 2006, Graefe's Archive for Clinical and Experimental Ophthalmology.

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

A. Renieri, F. Mari, E. Scala, 2004, Kidney international.

Preserved speech variants of the Rett syndrome: molecular and clinical analysis.

A. Renieri, M. Zappella, G. Hayek, 2001, American journal of medical genetics.

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

N. Landsberger, V. Broccoli, A. Renieri, 2005, Human molecular genetics.

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

A. Renieri, D. Giachino, F. Mari, 2005, Journal of Medical Genetics.

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett‐like features

A. Renieri, F. Mari, P. Balestri, 2008, American journal of medical genetics. Part A.

Delineation of the phenotype associated with 7q36.1q36.2 deletion: Long QT syndrome, renal hypoplasia and mental retardation

A. Renieri, F. Mari, S. Vicari, 2008, American journal of medical genetics. Part A.

The XLMR gene ACSL4 plays a role in dendritic spine architecture

C. Bellan, A. Renieri, F. Mari, 2009, Neuroscience.

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

P. Marynen, J. Fryns, M. Raynaud, 2003, Journal of medical genetics.

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

H. Ropers, J. Fryns, J. Schaffer, 2002, Nature Genetics.

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

R. Coppo, G. Frascà, S. Feriozzi, 2005, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

A. Amoroso, S. Savoldi, A. Renieri, 2009, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Type-IV collagen related diseases.

A. Renieri, F. Mari, M. Bruttini, 2003, Journal of nephrology.

R. Ravazzolo, P. Noris, P. Koivisto, 2003, Medicine.

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate

A. Novelli, A. Renieri, R. Genesio, 2019, Molecular genetics & genomic medicine.

RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome.

M. Fichera, C. Romano, V. Micheli, 2007, Clinica chimica acta; international journal of clinical chemistry.

Private inherited microdeletion/microduplications: implications in clinical practice.

A. Renieri, R. Canitano, F. Mari, 2008, European Journal of Medical Genetics.

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

A. Renieri, R. Canitano, F. Mari, 2003, Clinical genetics.

Genomic differences between retinoma and retinoblastoma

A. Acquaviva, T. Hadjistilianou, S. Lazzi, 2008, Acta oncologica.

Array comparative genomic hybridization in retinoma and retinoblastoma tissues

A. Acquaviva, T. Hadjistilianou, M. C. Epistolato, 2009, Cancer science.

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

R. Rocchi, A. Renieri, F. Mari, 2004, Human mutation.

Study of MECP2 gene in Rett syndrome variants and autistic girls

A. Renieri, R. Canitano, F. Mari, 2003, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome

S. Lalani, L. Servais, F. Brancati, 2010, European Journal of Human Genetics.

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

A. Renieri, F. Mari, F. Ariani, 2005, Journal of cellular physiology.

Urine‐derived podocytes‐lineage cells: A promising tool for precision medicine in Alport Syndrome

G. Garosi, A. Pinto, C. Fallerini, 2018, Human mutation.

MECP2 deletions and genotype–phenotype correlation in Rett syndrome

A. Battaglia, A. Renieri, F. Mari, 2007, American journal of medical genetics. Part A.

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.

J. Fryns, D. Toniolo, A. Renieri, 2000, American journal of human genetics.

Advances in Alport syndrome diagnosis using next-generation sequencing

G. Garosi, M. Clementi, M. C. Epistolato, 2011, European Journal of Human Genetics.