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List of works by Alessandra Renieri

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

scientific article

13q deletion syndrome and retinoblastoma in identical dichorionic diamniotic monozygotic twins

scientific article published in September 2012

14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

scientific article published on 19 March 2009

2q24-q31 deletion: report of a case and review of the literature

scientific article published on 17 September 2006

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

scientific article published on 26 February 2010

9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?

scientific article

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.

scientific article

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

scientific article published in August 2008

A Bg/II polymorphism in the COL4A6 gene.

scientific article published in October 1994

A case report: bone marrow mesenchymal stem cells from a Rett syndrome patient are prone to senescence and show a lower degree of apoptosis

scientific article published on 01 April 2008

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia

scientific article from 2008

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

scientific article published in August 2013

A glomerulus-on-a-chip to recapitulate the human glomerular filtration barrier

scientific article published on 13 August 2019

A pilot study of next generation sequencing-liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel-Trenaunay syndrome

scientific article published on 26 June 2020

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

scientific article

A unique patient presenting with concomitant Klinefelter syndrome, Alport syndrome, and craniopharyngioma

scientific article published on 19 April 2012

AAV-mediated FOXG1 gene editing in human Rett primary cells

scientific article published on 15 June 2020

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

scientific article published on 17 July 2020

ACE2 variants underlie interindividual variability and susceptibility to COVID-19 in Italian population

scientific article published on 06 April 2020

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

scientific article

Advances in Alport syndrome diagnosis using next-generation sequencing

scientific article published on 7 September 2011

Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality

scientific article published in 2021

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.

scientific article

Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR).

scientific article

Alport syndrome caused by a 5' deletion within the COL4A5 gene

scientific article published on April 1, 1992

Alport syndrome with type I membranoproliferative glomerulonephritis

scientific article published on 01 January 1993

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?

scientific article

Alport syndrome--is there a genotype-phenotype relationship?

scientific article published on 01 August 1997

Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.

scientific article published on 15 March 2018

Alport syndrome: impact of digenic inheritance in patients management.

scientific article published on 8 November 2016

Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder

scientific article published on 22 May 2015

Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice

scientific article

Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: prevalence of a novel mutation

scientific article published on 8 May 2013

Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations ⬇️

scientific article published on December 16, 2010

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

scientific article

Analysis of the Phenotypes in the Rett Networked Database

scientific article published on 27 March 2019

Antiepileptic drugs in Rett Syndrome

scientific article published on 5 March 2015

Array comparative genomic hybridization in retinoma and retinoblastoma tissues

scientific article

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

scientific article published on 2 September 2010

Author Correction: A glomerulus-on-a-chip to recapitulate the human glomerular filtration barrier

scientific article published on 21 October 2019

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

scientific article published on 7 January 2009

Autosomal dominant aplasia cutis congenita: report of a large Italian family and no hint for candidate chromosomal regions

scientific article published on 01 December 1999

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

scientific article

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

scientific article

Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case

scientific article published in June 2006

Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).

scientific article published on 4 September 2015

CAG Repeat Expansion in an Italian Family with Spinocerebellar Ataxia Type 2 (SCA2): A Clinical and Genetic Study ⬇️

scientific article published on October 1, 1998

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

scientific article

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

scientific article

CKAP2L mutation confirms the diagnosis of Filippi syndrome

scientific article published on 23 February 2018

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

scientific article published on June 2002

Capping of the N-terminus of PSD-95 by calmodulin triggers its postsynaptic release

scientific article

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

scientific article published in December 2003

Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor-Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA Network

scientific article published on 07 August 2020

Clinical and molecular characterization of COVID-19 hospitalized patients

scientific article published on 25 May 2020

Clinical and molecular characterization of COVID-19 hospitalized patients

scientific article published on 18 November 2020

Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

scientific article published on 8 November 2007

Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH.

scientific article published in April 2007

Clonality Analysis of Immunoglobulin Gene Rearrangement by Next-Generation Sequencing in Endemic Burkitt Lymphoma Suggests Antigen Drive Activation of BCR as Opposed to Sporadic Burkitt Lymphoma.

scientific article published on January 2016

Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region

scientific article

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

scientific article

Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability

scientific article published on 22 September 2014

Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses

scientific article

Commentary: Potential Links between Hepadnavirus and Bornavirus Sequences in the Host Genome and Cancer

scientific article published in 2018

Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

scientific article published on 10 December 2021

Confocal microscopy of the skin in the diagnosis of X-linked Alport syndrome

scientific article published on 01 July 2003

Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor

scientific article published on 9 August 2016

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

scientific article

Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability

scientific article

De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.

scientific article published on 14 November 2016

De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome

scientific article (publication date: May 1992)

Deciphering the underlying genetic and epigenetic events leading to gastric carcinogenesis

scientific article published on May 2007

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

scientific article published on 01 May 2008

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

scientific article

Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 gene

scientific article published on 01 July 2000

Dropped-head in recessive oculopharyngeal muscular dystrophy.

scientific article published on 7 September 2015

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder

scientific article published in April 2013

EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome.

scientific article

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

scientific article published on 10 April 2009

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

scientific article published on January 26, 2012

Epilepsy and electroencephalographic anomalies in chromosome 2 aberrations. A review.

scientific article published on 20 February 2008

Epilepsy in Rett syndrome--lessons from the Rett networked database

scientific article published on 19 March 2015

Epilepsy in Rett syndrome: clinical and genetic features.

scientific article

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene

scientific article

Epstein‐barr virus and gastric cancer: Data and unanswered questions ⬇️

scientific article published on April 1, 1993

Evidence for Genetic Heterogeneity in Benign Familial Hematuria

article

Evidence of digenic inheritance in Alport syndrome

scientific article published on 9 January 2015

Evidence of predisposing epimutation in retinoblastoma

scientific article published on 26 November 2018

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

scientific article published on 2 January 2016

Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene

scientific article published on 3 September 2016

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

scientific article published on 23 July 2012

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

scientific article published on 13 December 2011

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

scientific article published on 01 January 2008

Exploiting the potential of next-generation sequencing in genomic medicine

scientific article

FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation.

scientific article

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

scientific article

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

scientific article

FOXG1 is responsible for the congenital variant of Rett syndrome

scientific article

First identification of a triple corneal dystrophy association: keratoconus, epithelial basement membrane corneal dystrophy and fuchs' endothelial corneal dystrophy

scientific article

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3

article published in 2011

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

scientific article published on 18 January 2007

Functional Connectivity and Genetic Profile of a "Double-Cortex"-Like Malformation.

scientific article

Genetic mechanisms of critical illness in Covid-19

scientific article published on 11 December 2020

Genomic differences between retinoma and retinoblastoma

scientific article

Germline mosaicism in Rett syndrome identified by prenatal diagnosis

scientific article published on 01 March 2005

Germline mutations in lung cancer and personalized medicine.

scientific article published on 15 September 2017

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

scientific article

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

scientific article published on 12 May 2010

Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases

scientific article published on 31 December 2019

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

scientific article published on 28 December 2020

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

scientific article published on 7 October 2015

Inheritance of a 38-kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy

scientific article published on 01 October 1999

Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts

scientific article published on 09 January 2017

Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.

scientific article published on 01 March 2010

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant

scientific article published on 3 November 2017

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome

scientific article (publication date: July 2014)

Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly

Is HSD17B1 a new sex reversal gene in human?

scientific article published on 28 July 2009

Is Rett syndrome a loss-of-imprinting disorder?

scientific article published in January 2005

Is complement alternative pathway disregulation involved in veno-occlusive disease of the liver?

scientific article published on 19 September 2010

Italian Rett database and biobank.

scientific article published in April 2007

KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs.

scientific article

LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis

scientific article

Leukoencephalopathy in 21-beta hydroxylase deficiency: report of a family.

scientific article published on 7 May 2009

Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia

scientific article published on 20 February 2018

MECP2 deletions and genotype-phenotype correlation in Rett syndrome

scientific article published on 01 December 2007

MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region ⬇️

scientific article published on December 1, 2001

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

scientific article published on 22 October 2015

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness

scientific article

Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome

article

Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.

scientific article published on December 2016

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

scientific article

Missense mutations in the COL4A5 gene in patients with X-linked alport syndrome ⬇️

scientific article published on 01 January 1998

Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy.

scientific article published on 27 February 2004

Molecular Diagnosis of Alport Syndrome: The Experience in Siena ⬇️

scientific article published on 01 January 1997

Molecular characterization of the P and I variants of α1-antitrypsin

scientific article published on 01 January 1992

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

scientific article

Multiple endocrine neoplasia type 2 syndromes may be associated with renal malformations.

scientific article

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

scientific article

Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations

scientific article published on 4 February 2006

Mutations in FN1 cause glomerulopathy with fibronectin deposits.

scholarly article

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

scientific article

New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells

scientific article published on 21 November 2019

Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism

scientific article

Nicolaides-Baraitser syndrome: defining a phenotype

scientific article published on 10 June 2016

Non-collagen genes role in digenic Alport syndrome

article

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

scientific article

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

scientific article published on 2 July 2009

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.

scientific article published on 19 July 2017

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

scientific article published on 4 June 2014

Optic disc drusen, angioid streaks, and mottled fundus in various combinations in a Sicilian family.

scientific article published on 27 August 2002

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

scientific article

Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families

scientific article published in December 2003

Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA

scientific article published on 11 February 2014

PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation

scientific article

PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysis

scientific article published on 28 October 2019

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

Partial silencing of methyl cytosine protein binding 2 (MECP2) in mesenchymal stem cells induces senescence with an increase in damaged DNA.

scientific article published on 11 January 2010

Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion

scientific article published on 07 June 2012

Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy.

scientific article published on 29 November 2017

Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy

scientific article published on 29 September 2011

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

scientific article published on 27 February 2016

Preserved speech variants of the Rett syndrome: Molecular and clinical analysis ⬇️

scientific article published on November 15, 2001

Private inherited microdeletion/microduplications: implications in clinical practice.

scientific article published on 9 July 2008

Prognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome.

scientific article published on 31 January 2013

Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11

scientific article (publication date: 2001)

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

scientific article

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.

scientific article

Recurrent duplications of 17q12 associated with variable phenotypes.

scientific article published on 30 September 2015

Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome

scientific article

Reduced expression of MECP2 affects cell commitment and maintenance in neurons by triggering senescence: new perspective for Rett syndrome

scientific article

Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis

scientific article

Regulatory variants of FOXG1 in the context of its topological domain organisation.

scientific article published on 30 December 2017

Renal transplantation from living donor parents in two brothers with Alport syndrome. Can asymptomatic female carriers of the Alport gene be accepted as kidney donors?

scientific article published on 01 January 1995

Response to Phelan K. et al.: Letter to the Editor Regarding Disciglio et al: Interstitial 22q13 deletions not involvingSHANK3gene: A new contiguous gene syndrome

article

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

scientific article published on 15 May 2007

Rett networked database: an integrated clinical and genetic network of Rett syndrome databases

scientific article published on 13 April 2012

Rett syndrome: Revised diagnostic criteria and nomenclature ⬇️

scientific article published on December 1, 2010

Rett syndrome: the complex nature of a monogenic disease

scientific article

Revealing the complexity of a monogenic disease: rett syndrome exome sequencing

scientific article

Role of Colchicine Treatment in Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): Real-Life Data from the AIDA Network

scientific article published on 27 May 2020

Should a syndrome be called by its correct name? The example of the preserved speech variant of Rett syndrome

scientific article published on 12 July 2005

Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome

scientific article published on 01 January 1994

Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology

scientific article published on 09 October 2015

Study of MECP2 gene in Rett syndrome variants and autistic girls.

scientific article published in May 2003

Superselective ophthalmic artery infusion of melphalan for intraocular retinoblastoma: preliminary results from 140 treatments.

scientific article published on 23 January 2012

Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients.

scientific article published in July 2010

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

scientific article published on 9 September 2015

Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases

scientific article published on 30 August 2013

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

scientific article

The Italian XLMR bank: a clinical and molecular database

scientific article

The XLMR gene ACSL4 plays a role in dendritic spine architecture

scientific journal article

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

scientific article

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.

scientific article published on 13 November 2009

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

scientific article

The role of surgical lung biopsy in the management of interstitial lung disease: experience from a single institution in the UK

scientific article published on 14 May 2013

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

article

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

scientific article

Three new patients with dup(17)(p11.2p11.2) without autism

scientific article published on 23 January 2008

Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients

scientific article published on 28 January 2020

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

article

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

scientific article published on 2 November 2017

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

scientific article published on 01 March 2019

Variability of clinical phenotype in a large Alport family with Gly 1143 Ser change of collagen alpha 5(IV)-chain

scientific article published on 01 January 1994

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

scientific article published on September 2009

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

scientific article published on 01 July 2012

Visual impairment in FOXG1-mutated individuals and mice

scientific article

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

scientific article

iPS cells to model CDKL5-related disorders.

scientific article published on 13 July 2011

iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome

scientific article published on 04 May 2018

p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma

scientific article published on 04 August 2011

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