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List of works by Isabella Ceccherini

A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex clinical phenotypes.

scientific article

A common haplotype at the 5′ end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression

article

A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease

scientific article published in February 2007

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease

scientific article published on 05 November 2020

A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children

scientific article

A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

scientific article published in Nature

A novel missense mutation in the PHOX2B gene is associated with late onset central hypoventilation syndrome

scientific article published in October 2008

A novel mutation in the GFAP gene in a familial adult onset Alexander disease

article published in 2007

A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activities.

scientific article published on November 2010

A prospective observational study of associated anomalies in Hirschsprung's disease

scientific article

A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease

scientific article published on 4 September 2002

A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease

article

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

scientific article published on 18 October 2017

A young female with early onset arthritis, uveitis, hepatic, and renal granulomas: a clinical tryst with Blau syndrome over 20 years and case-based review

scientific article published on 06 May 2019

ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum

ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.

scientific article published on 18 May 2017

ADA2 deficiency due to a novel structural variation in 22q11.1.

scientific article published on 28 March 2019

Adult-onset Alexander disease

Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant

scientific article published on May 2013

Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature

scientific article

Allele-Specific Expression at theRETLocus in Blood and Gut Tissue of Individuals Carrying Risk Alleles for Hirschsprung Disease

scientific article (2013)

Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease

scientific article published on 15 March 2013

An autoinflammatory neurological disease due to interleukin 6 hypersecretion

scientific article published on 21 February 2013

An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management

scientific article published on March 2010

Analysis of candidate genes for intrinsic neuropathy in a family with chronic idiopathic intestinal pseudo-obstruction

article

Assignment of mouse <i>Gfra</i><i>1,</i> the homologue of a new human HSCR candidate gene, to the telomeric region of mouse Chromosome 19 ⬇️

scientific article published on January 1, 1997

Association of multiple endocrine neoplasia type 2 and Hirschsprung disease.

scientific article

Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases

scientific article

Autoinflammation in pyoderma gangrenosum and its syndromic form (pyoderma gangrenosum, acne and suppurative hidradenitis).

scientific article

Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS).

scientific article published on 31 October 2012

Autosomal dominant polycystic kidney disease: Prenatal diagnosis by DNA analysis and sonography at 14 weeks

scientific article published on 01 November 1989

B cells characterization in ADA2 Deficiency patients.

scientific article published on 28 September 2015

Beneficial effects of curcumin on GFAP filament organization and down-regulation of GFAP expression in an in vitro model of Alexander disease

scientific article

Betaine, dimethyl sulfoxide, and 7-deaza-dGTP, a powerful mixture for amplification of GC-rich DNA sequences.

scientific article published on November 2006

Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome

scientific article published on 8 June 2006

Brainstem signs with progressing atrophy of medulla oblongata and upper cervical spinal cord

scientific article

CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever.

scientific article published in January 2017

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome

scientific article

Caffeine post-treatment causes a shift in the chromosome aberration types induced by mitomycin C, suggesting a caffeinesensitive mechanism of DNA repair in G2

scientific article published on 01 January 1988

Can MR imaging diagnose adult-onset Alexander disease?

scientific article

Candidate genes in patients with autoinflammatory syndrome resembling tumor necrosis factor receptor-associated periodic syndrome without mutations in the TNFRSF1A gene

scientific article published on April 2011

Causative and common PHOX2B variants define a broad phenotypic spectrum

scientific article published on 23 August 2019

Ceftriaxone has a therapeutic role in Alexander disease

scientific article published on 27 November 2009

Cell-line specific chromatin acetylation at the Sox10-Pax3 enhancer site modulates the RET proto-oncogene expression.

scientific article published on July 2002

Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease

scientific article

Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutation.

scientific article

Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study

scientific article published on April 2016

Clinical and genetic characterization of Italian patients affected by CINCA syndrome

scientific article published on 18 August 2006

Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population

scientific article published on 12 May 2012

Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation

scientific article

Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease.

scientific article published on 19 April 2017

Comparative genomic sequence analysis coupled to chromatin immunoprecipitation: a screening procedure applied to search for regulatory elements at the RET locus

scientific article published on 6 September 2005

Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).

scientific article

Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation

scientific article published on December 2008

Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine

scientific article published on June 2009

Congenital central hypoventilation syndrome: genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation

scientific article published on 11 February 2010

Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model

scientific article

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease

scientific article published on 25 November 2019

Correspondence regarding: Alexander disease mutant glial fibrillary acidic protein compromises glutamate transport in astrocytes

scientific article published on December 2010

Cryopyrin associated periodic syndromes (CAPS): immunological characterization of knock-in mouse model to exploit novel approaches for the modulation of the NLRP3 inflammasome.

scientific article

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

scientific article

Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation

scientific article published on 10 March 2017

Diagnostic and therapeutic approach to multiple endocrine neoplasia type 2B in pediatric patients.

scientific article published on 11 April 2002

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability

scientific article

Differentiating PFAPA syndrome from monogenic periodic fevers

scientific article published on 28 September 2009

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

scientific article published on 11 May 2005

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease

scientific article published in April 1999

Erratum to: Cell-line specific chromatin acetylation at the Sox10-Pax3 enhancer site modulates theRETproto-oncogene expression (FEBS 26252)

scholarly article by Francesca Puppo published in September 2002

Exon structure and flanking intronic sequences of the human RET proto-oncogene

scientific article (publication date: 15 November 1993)

Expression variability and function of the RET gene in adult peripheral blood mononuclear cells

scientific article published on December 2014

Failure of tocilizumab treatment in a CINCA patient: clinical and pathogenic implications

scientific article

Frequency of RET mutations in long- and short-segment Hirschsprung disease

scientific article published on 01 January 1997

Functional characterization of a minimal sequence essential for the expression of human TLX2 gene

scientific article

Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability

scientific article

GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease

article

Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions

scientific article published on 14 September 2006

Gender-dependent disease severity in autosomal polycystic kidney disease of rats

scientific article published on 01 August 1995

Genetic and epigenetic factors affect RET gene expression in breast cancer cell lines and influence survival in patients

scientific article published on 28 March 2016

Genetic mapping of the RET protooncogene on rat chromosome 4.

scientific article

Genetics of enteric neuropathies.

scientific article published on 14 July 2016

Genomics approach to the analysis of bacterial communities dynamics in Hirschsprung's disease-associated enterocolitis: a pilot study.

scientific article published on 20 March 2010

Germ line mutations of the ret proto-oncogene in Japanese patients with multiple endocrine neoplasia type 2A and type 2B.

scientific article

Guidelines for the genetic diagnosis of hereditary recurrent fevers.

scientific article

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

scientific article

Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles

scientific article published on January 2006

Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic association.

scientific article published on March 2009

Hirschsprung disease, associated syndromes and genetics: a review

scientific article

Human lymphocytes assay: Cyclophosphamide metabolic activation by S9 system with low cytotoxicity

scientific article published on 01 December 1984

Identification of novel pathways and molecules able to down-regulate PHOX2B gene expression by in vitro drug screening approaches in neuroblastoma cells

scientific article published on 13 April 2015

Identification of the Cys634-->Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis

scientific article

In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins

scientific article published on 21 September 2011

In vitro treatments with ceftriaxone promote elimination of mutant glial fibrillary acidic protein and transcription down-regulation

scientific article published on 21 May 2010

Incidence of RET mutations in patients with Hirschsprung's disease

scientific article published on 01 January 2000

Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patients.

scientific article

Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

scientific article published on May 2009

Interstitial deletion of the endothelin-B receptor gene in the spotting lethal (sl) rat.

scientific article published in November 1995

Kinetics of chromosomal aberrations and first mitosis division in human lymphocytes exposed to mitomycin C

scientific article published on 01 July 1988

LPIN2 gene mutation in a patient with overlapping neutrophilic disease (pyoderma gangrenosum and aseptic abscess syndrome).

scientific article published on 16 January 2018

Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.

scientific article

Location of the first genetic locus, PKDr1, controlling autosomal dominant polycystic kidney disease in Han:SPRD cy/+ rat

scientific article published on 01 April 1997

Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene ⬇️

scientific article

Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome

scientific article published on 19 February 2011

MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever

scientific article published on March 2005

Magnetic resonance imaging "tigroid pattern" in Alexander disease

scientific article published on 19 December 2012

Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.

scientific article

Medico-legal investigation in an explicable case of congenital central hypoventilation syndrome due to a rare variant of the PHOX2B gene

article

Megacystis, megacolon, and malrotation: A new syndromic association?

scientific article published on 07 July 2011

Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease

scientific article published on 16 January 2008

Molecular analysis of mutations in the hprt gene in circulating lymphocytes from normal and DNA-repair-deficient donors

article

Molecular and cytogenetic characterization of radiation hybrids specific for human chromosome 16

scientific article published on 01 January 1992

Molecular mechanisms of RET-induced Hirschsprung pathogenesis

scientific article

Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes

scientific article published in June 2010

Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes

scholarly article by Cristina Romei et al published December 2010 in European Journal of Endocrinology

Mutational analysis of the RNX gene in congenital central hypoventilation syndrome

scientific article

Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction

scientific article published on 4 August 2017

Neonatal-Onset Urticaria and Fever

scientific article published on 8 August 2016

Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications

scientific article published in March 2006

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.

scientific article published on 17 September 2015

Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in Pediatric Chronic Intestinal Pseudo-Obstruction

scientific article published on 08 December 2020

Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.

scientific article published on 11 September 2017

Nuclear factor Y drives basal transcription of the human TLX3, a gene overexpressed in T-cell acute lymphocytic leukemia

scientific article

Oligogenic inheritance in neuroblastoma

scientific article published on 01 October 2005

PHOX2B mutations and genetic predisposition to neuroblastoma

PHOX2B-mediated regulation of ALK expression: in vitro identification of a functional relationship between two genes involved in neuroblastoma

scientific article

Pathways systematically associated to Hirschsprung's disease

scientific article published on 02 December 2013

Prevalence of CECR1 mutations in pediatric patients with polyarteritis nodosa, livedo reticularis and/or stroke.

scientific article

Proceedings of the fourth international conference on central hypoventilation

scientific article

Pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH): a new autoinflammatory syndrome associated with a novel mutation of the PSTPIP1 gene

scientific article

RAG deficiency with ALPS features successfully treated with TCRαβ/CD19 cell depleted haploidentical stem cell transplant.

scientific article published on 2 November 2017

Radiation hybrids for mapping and cloning DNA sequences of distal 16p

scientific article published on July 1, 1992

Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism

scientific article published on 4 March 2013

Recurrent arthritis as a unique manifestation of hyperimmunoglobulinaemia D.

scientific article published on 26 November 2008

Rescue of human RET gene expression by sodium butyrate: a novel powerful tool for molecular studies in Hirschsprung disease

scientific article published on August 2003

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

scientific article

Safe drugs to fight mutant protein overload and alpha-1-antitrypsin deficiency

scientific article published on 12 June 2011

Search for pathogenetic variants of the SPRY2 gene in intestinal innervation defects.

scientific article published in May 2009

Severe erytrodermic psoriasis and arthritis as clinical presentation of a CARD14-mediated psoriasis (CAMPS).

scientific article published on 28 September 2015

Somatic mutations of the ret protooncogene in sporadic medullary thyroid carcinoma are not restricted to exon 16 and are associated with tumor recurrence

scientific article published on 01 April 1996

Special basic science review

article

Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16

article

Strategies for the Identification of Intron–Exon Boundaries and Point Mutations: The Example of theRETProto-Oncogene

scientific article published on 01 February 1996

Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.

scientific article

The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever

scientific article

The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B.

scientific article published on 4 February 2012

The Ret proto-oncogene in the WAG/Rij rat strain: an animal model for inherited C-cell carcinoma?

scientific article

The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells

scientific article

The involvement of the RET variant G691S in medullary thyroid carcinoma enlightened by a meta-analysis study.

scientific article

The involvement of the RET variant G691S in medullary thyroid carcinoma: conflicting results of meta-analyses need to be reconciled.

scientific article published on 22 April 2013

The ocular motor features of adult-onset alexander disease: a case and review of the literature

scientific article

The sensitivity of activated Cys Ret mutants to glial cell line-derived neurotrophic factor is mandatory to rescue neuroectodermic cells from apoptosis

scientific article

Toward a therapeutic strategy for polyalanine expansions disorders: in vivo and in vitro models for drugs analysis

scientific article published on 09 March 2011

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

scientific article published on 3 October 2016

Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome

scientific article

Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes

scientific article published on 16 May 2007

Treatment of preclinical medullary thyroid carcinoma in MEN 2A gene carrier

scientific article published in The Lancet

Tumor necrosis factor receptor-associated periodic syndrome as a model linking autophagy and inflammation in protein aggregation diseases

scientific article published on 06 April 2014

Uncommon association of germline mutations of RET proto-oncogene and CDKN2A gene

scientific article

Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease

scientific article published on 7 January 2016

Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction

scientific article published on 27 January 2016

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

scientific article

cDNA Sequence and Genomic Structure of the Rat Ret Proto-Oncogene

scientific article published on 01 January 2000

miR-204 mediates post-transcriptional down-regulation of PHOX2B gene expression in neuroblastoma cells

scientific article

Édition française de la Déclaration officielle de politique clinique de l’American Thoracic Society (ATS) sur le syndrome d’hypoventilation alvéolaire centrale congénitale. Bases génétiques, diagnostic et prise en charge

scientific article published on 04 June 2013

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