F. Ariani

发表

Expert consensus guidelines for the genetic diagnosis of Alport syndrome

Jie Ding, G. Garosi, D. Gale, 2018, Pediatric nephrology (Berlin, West).

FOXG1 is responsible for the congenital variant of Rett syndrome.

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

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

J. Armstrong, A. Roche, J. Nectoux, 2009, Journal of Medical Genetics.

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

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

Clinical and molecular characterization of Italian patients affected by Cohen syndrome

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

Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation

R. Tenconi, S. Furini, A. Pinto, 2016, Brain and Development.

Vav1 Haploinsufficiency in a Common Variable Immunodeficiency Patient with Defective T-Cell Function

M. D’Elios, C. Baldari, A. Renieri, 2012, International journal of immunopathology and pharmacology.

IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?

H. Van Esch, J. Armstrong, M. Pineda, 2020, Clinical genetics.

Investigation of modifier genes within copy number variations in Rett syndrome

J. LaSalle, A. Renieri, M. Mucciolo, 2011, Journal of Human Genetics.

iPS cells to model CDKL5-related disorders

M. C. Epistolato, J. Ellis, A. Renieri, 2011, European Journal of Human Genetics.

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.

Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/− patients and in foxg1+/− mice

J. Hell, F. Vaccarino, Mario Costa, 2015, European Journal of Human Genetics.

Exploiting the potential of next-generation sequencing in genomic medicine

A. Pinto, A. Renieri, F. Ariani, 2016, Expert review of molecular diagnostics.

Visual impairment in FOXG1-mutated individuals and mice

E. Strettoi, E. Novelli, T. Pizzorusso, 2016, Neuroscience.

Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin‐binding dynamics

F. Cardarelli, A. Renieri, F. Mari, 2012, Clinical genetics.

SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures

S. Arold, S. Furini, A. Pinto, 2022, Frontiers in Molecular Neuroscience.

Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder

A. Renieri, R. Canitano, M. Mencarelli, 2022, Genes.

Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases

F. Bianchi, G. Cioni, U. Bonuccelli, 2012, Neuropediatrics.

Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria

M. Cilio, S. Sartori, A. Renieri, 2010, Brain & development (Tokyo. 1979).

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.

14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

R. Pfundt, T. Kleefstra, A. Renieri, 2009, European 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.

Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing

S. Furini, A. Renieri, F. Mari, 2013, PloS one.

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.

GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells

J. Hell, G. D. Falco, E. Calcagno, 2014, European Journal of Human Genetics.

Neurological presentation of Ehlers–Danlos syndrome type IV in a family with parental mosaicism

A. Malandrini, M. Villanova, A. Renieri, 2003, Clinical Genetics.

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.

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

F. Brancati, G. Ghiggeri, S. Feriozzi, 2014, Clinical Genetics.

Natural history of KBG syndrome in a large European cohort

N. Brunetti‐Pierri, F. Santorelli, T. Reimand, 2022, Human molecular genetics.

iPSC‐derived neurons profiling reveals GABAergic circuit disruption and acetylated &agr;‐tubulin defect which improves after iHDAC6 treatment in Rett syndrome

F. Vaccarino, Flaminia C Lorenzetti, S. Furini, 2018, Experimental cell research.

Redox Imbalance and Morphological Changes in Skin Fibroblasts in Typical Rett Syndrome

G. Valacchi, J. Galano, T. Durand, 2014, Oxidative medicine and cellular longevity.

Expanding the phenotype of 22q11 deletion syndrome: the MURCS association

C. Marcocci, A. Renieri, F. Mari, 2008, Clinical dysmorphology.

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance

P. Radice, S. Manoukian, E. Trevisson, 2019, Cancers.

Epigenetic and Copy Number Variation Analysis in Retinoblastoma by MS-MLPA

T. Hadjistilianou, M. C. Epistolato, S. Lazzi, 2012, Pathology & Oncology Research.

Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations

S. Furini, A. Pinto, F. Fava, 2021, Brain sciences.

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.

Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes

A. Pinto, F. Fava, Aurora Currò, 2021, Frontiers in Oncology.

Private inherited microdeletion/microduplications: implications in clinical practice.

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

Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice

F. Vaccarino, A. Renieri, F. Mari, 2015, European Journal of Human 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.

DNA Methylation in the Diagnosis of Monogenic Diseases

F. Coppedè, M. Genuardi, G. Merla, 2020, Genes.

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.

Evidence of predisposing epimutation in retinoblastoma

T. Hadjistilianou, D. Galimberti, A. Pinto, 2018, Human mutation.

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

J. Crolla, A. Collins, B. Gener, 2012, European journal of medical genetics.

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.

Investigation of modifier genes within copy number variations in Rett syndrome

J. LaSalle, A. Renieri, M. Mucciolo, 2011, Journal of Human Genetics.

Advances in Cohen syndrome diagnosis by MLPA and NGS

A. Renieri, F. Ariani, 2011 .

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.

Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls

A. Reymond, R. Guigó, L. Excoffier, 2009, Human mutation.

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

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

Alport syndrome: impact of digenic inheritance in patients management

G. Garosi, E. Trevisson, A. Pinto, 2017, Clinical genetics.

Evidence of digenic inheritance in Alport syndrome

K. Dahan, C. Antignac, B. Knebelmann, 2015, Journal of Medical Genetics.

MECP2 deletions and genotype–phenotype correlation in Rett syndrome

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

New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing

S. Furini, A. Pinto, F. Fava, 2021, International journal of molecular sciences.

Advances in Alport syndrome diagnosis using next-generation sequencing

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

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

M. Fichera, C. Romano, D. Grozeva, 2015, Journal of Human Genetics.

MOLECULAR DEFECT IN MECP 2-NEGATIVE RETT PATIENTS

F. Ariani, 2006 .

Title : Variation in novel exons ( RACEfrags ) of the MECP 2 gene in Rett syndrome patients and controls

A. Reymond, R. Guigó, L. Excoffier, 2022 .

Rett syndrome: the complex nature of a monogenic disease

A. Renieri, F. Mari, F. Ariani, 2003, Journal of Molecular Medicine.

Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients.

T. Dragani, S. Furini, A. Renieri, 2014, Lung cancer.

Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay

F. Fava, A. Renieri, R. Canitano, 2021, Journal of Autism and Developmental Disorders.

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)

G. Cevenini, A. Renieri, F. Mari, 2009, Brain and Development.

3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age.

A. Renieri, M. Mucciolo, F. Mari, 2010, European journal of medical genetics.

Germline mosaicism in Rett syndrome identified by prenatal diagnosis

M. Tassini, A. Renieri, F. Mari, 2005, Clinical genetics.

p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma

A. Acquaviva, T. Hadjistilianou, M. C. Epistolato, 2011, Journal of Human Genetics.

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. Renieri, F. Mari, R. Caselli, 2007, European journal of medical genetics.

p 53 Arg 72 Pro and MDM 2 309 SNPs in hereditary retinoblastoma

T. Hadjistilianou, M. C. Epistolato, D. Giachino, 2014 .

An explainable model of host genetic interactions linked to COVID-19 severity

G. Parati, A. d’Arminio Monforte, F. Chiaromonte, 2021, Communications Biology.

Three Rett patients with both MECP2 mutation and 15q11–13 rearrangements

G. Neri, A. Renieri, R. Canitano, 2004, European Journal of Human Genetics.

Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress

S. Furini, C. Fallerini, A. Renieri, 2016, International journal of molecular sciences.

Omic Approach in Non-smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine

S. Furini, C. Bellan, C. Fallerini, 2017, Cancer research and treatment : official journal of Korean Cancer Association.

Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype

T. Hadjistilianou, C. Fallerini, A. Renieri, 2021, Frontiers in Genetics.

MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype.

Aurora Currò, A. Renieri, F. Mari, 2019, European journal of medical genetics.

RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report

C. Fallerini, A. Renieri, M. Mencarelli, 2020, Frontiers in Oncology.

Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism

T. Hadjistilianou, D. Galimberti, A. Renieri, 2015, European Journal of Human Genetics.

Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma

T. Hadjistilianou, V. Capra, E. Trevisson, 2018, European Journal of Human Genetics.

Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder

A. Fagiolini, S. Furini, C. Fallerini, 2022, Revista brasileira de psiquiatria.

Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease

S. Rossi, M. Ulivelli, A. Malandrini, 2007, Journal of Human Genetics.

Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder

G. Parati, R. Scala, M. Girardis, 2023, Respiratory Research.

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome

T. Friede, Jie Ding, Yanqin Zhang, 2016, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Italian Rett database and biobank

A. Renieri, F. Mari, E. Scala, 2007, Human mutation.

Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit

H. Bokhoven, A. Renieri, F. Mari, 2013, Clinical genetics.

The Italian XLMR bank: a clinical and molecular database

A. Renieri, F. Mari, E. Scala, 2007, Human mutation.

The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.

Michael F. Wangler, H. Bellen, Shinya Yamamoto, 2022, Human molecular genetics.

Full Reviews Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome

T. Friede, Jie Ding, Yanqin Zhang, 2017 .

Non-collagen genes role in digenic Alport syndrome

F. Scolari, A. Pinto, C. Fallerini, 2019, BMC Nephrology.

Private inherited microdeletion/microduplications: implications in clinical practice.

A. Renieri, R. Canitano, F. Mari, 2008, European journal of medical genetics.

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.

An explainable model of host genetic interactions linked to COVID-19 severity

A. d’Arminio Monforte, M. L. La Rovere, M. Colaneri, 2022, Communications Biology.

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

F. Brancati, G. Ghiggeri, S. Feriozzi, 2014, Clinical genetics.

Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation

R. Tenconi, S. Furini, A. Pinto, 2016, Brain and Development.

iPSC‐derived neurons profiling reveals GABAergic circuit disruption and acetylated &agr;‐tubulin defect which improves after iHDAC6 treatment in Rett syndrome

F. Vaccarino, Flaminia C Lorenzetti, S. Furini, 2018, Experimental cell research.