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Author Edoardo Errichiello

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Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions.

Riccardo Carbone, Laura Rovedatti, Marco Vincenzo Lenti, Daniela Furlan, Edoardo Errichiello, Simone Gana, Ombretta Luinetti, Giovanni Arpa, Costanza Alvisi, Federico De Grazia, Enza Maria Valente, Fausto Sessa, Marco Paulli, Alessandro Vanoli, Antonio Di Sabatino,

<h4>Background</h4>Duodenal polyps and superficial mucosal lesions (DP/SMLs) are poorly characterised.<h4>Aims</h4>To describe a series of endoscopically-diagnosed extra-ampullary DPs/SMLs.<h4>Methods</h4>This is a retrospective study conducted in a tertiary referral Endoscopy Unit, including patients who had DPs or SMLs that were biopsied or removed in 2010-2019. Age, gender, history of familial polyposis syndromes, DP/SML ... Read more >>

Dig Liver Dis (Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver)
[2021, :]

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Acute megakaryoblastic leukemia with a novel GATA1 mutation in a second trimester stillborn fetus with trisomy 21.

Arturo Bonometti, Gessica Lobascio, Emanuela Boveri, Stefania Cesari, Mauro Lecca, Alessia Arossa, Arsenio Spinillo, Edoardo Errichiello, Marco Paulli,

Leuk Lymphoma (Leukemia & lymphoma)
[2021, :1-4]

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NRF1 Association with AUTS2-Polycomb Mediates Specific Gene Activation in the Brain

Sanxiong Liu, Kimberly Aldinger, Chi Vicky Cheng, Takae Kiyama, Mitali Dave, Hanna McNamara, Stefano Caraffi, Ivan Ivanovski, Edoardo Errichiello, Christiane Zweier, Orsetta Zuffardi, Michael Schneider, Antigone Papavasiliou, Scott Perry, Megan Cho, Astrid Weber, Andrew Swale, Tudor Badea, Chai-An Mao, Livia Garavelli, William Dobyns, Danny Reinberg,

<h4>SUMMARY</h4> The heterogeneous complexes comprising the family of Polycomb Repressive Complex 1 (PRC1) are instrumental to establishing facultative heterochromatin that is repressive to transcription. Yet, two PRC1 species, PRC1.3 and PRC1.5, are known to comprise novel components, AUTS2, P300, and CK2 that convert this repressive function to that of transcription ... Read more >>

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Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome.

Edoardo Errichiello, Alessandro Malara, Gianluca Grimod, Luigi Avolio, Alessandra Balduini, Orsetta Zuffardi,

Spontaneous cervical artery dissection (CeAD) is a major cause of ischemic stroke in young adults, whose genetic susceptibility factors are still largely unknown. Nevertheless, subtle ultrastructural connective tissue alterations (especially in the collagen fibril morphology) are recognized in a large proportion of CeAD patients, in which recent genetic investigations reported ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2021, 64(1):104099]

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RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism.

Edoardo Errichiello, Roberto Giorda, Antonella Gambale, Achille Iolascon, Orsetta Zuffardi, Sabrina Giglio,

<h4>Background</h4>Copy number variants in coding and noncoding genomic regions have been implicated as risk factor for schizophrenia (SCZ). Rare duplications of the RB1CC1 gene were found enriched in SCZ patients. Considering that the effect of such duplications on RB1CC1 expression has never been evaluated and partial gene duplications of RB1CC1 ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2021, 9(1):e1561]

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FANCA, TP53, and del(5q)/RPS14 alterations in a patient with T-cell non-Hodgkin lymphoma and concomitant Fanconi anemia and Li-Fraumeni syndrome.

Edoardo Errichiello, Tommaso Mina, Patrizia Morbini, Marco Zecca, Orsetta Zuffardi,

We traced the neoplastic history (from 5 to 11 years of age) of a child with concomitant Fanconi anemia and Li-Fraumeni syndrome. Interestingly, the patient developed a highly malignant T-cell non-Hodgkin lymphoma (NHL), which does not represent the typical tumor type in the two aforementioned syndromes, presumably due to the ... Read more >>

Cancer Genet (Cancer genetics)
[2020, :]

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An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis.

Edoardo Errichiello, Alessia Arossa, Angela Iasci, Roberta Villa, Benedetta Ischia, Maria Angela Pavesi, Tommaso Rizzuti, Maria Francesca Bedeschi, Orsetta Zuffardi,

Clin Genet (Clinical genetics)
[2020, 98(6):628-629]

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KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset.

Massimiliano Todisco, Simone Gana, Giuseppe Cosentino, Edoardo Errichiello, Sebastiano Arceri, Micol Avenali, Enza Maria Valente, Enrico Alfonsi,

<h4>Introduction</h4>Myoclonus-dystonia is a rare syndrome typically occurring during childhood or adolescence, mainly due to SGCE pathogenic variants. Early-onset, atypical presentations of myoclonus-dystonia have recently been associated with KCTD17 variants. In these cases, laryngeal involvement was reported in the advanced stages.<h4>Methods</h4>We evaluated a 52-year-old man with myoclonus-dystonia and positive family history. ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2020, 78:129-133]

Cited: 1 time

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Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23).

Edoardo Errichiello, Guido Zagnoli-Vieira, Romana Rizzi, Livia Garavelli, Keith W Caldecott, Orsetta Zuffardi,

TDP2 encodes a 5'-tyrosyl DNA phosphodiesterase required for the efficient repair of double-strand breaks (DSBs) induced by the abortive activity of DNA topoisomerase II (TOP2). To date, only three homozygous variants in TDP2 have been reported in six patients from four unrelated pedigrees with spinocerebellar ataxia 23 (SCAR23). By whole-exome ... Read more >>

J Hum Genet (Journal of human genetics)
[2020, 65(12):1135-1141]

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Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.

Ilenia Maini, Edoardo Errichiello, Stefano Giuseppe Caraffi, Simonetta Rosato, Veronica Bizzarri, Marzia Pollazzon, Gabriele Trimarchi, Gianluca Contrò, Benedetta Cavirani, Chiara Gelmini, Manuela Napoli, Claudio Moratti, Rosario Pascarella, Susanna Rizzi, Carlo Fusco, Orsetta Zuffardi, Livia Garavelli,

Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS) is an extremely rare autosomal recessive genetic disorder caused by variants in the MED25 gene. It is characterized by severe developmental delay and variable craniofacial, neurological, ocular, and cardiac anomalies. Since 2015, through whole exome sequencing, 20 patients have been described with common clinical features and biallelic ... Read more >>

Neurogenetics (Neurogenetics)
[2021, 22(1):19-25]

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Disseminated Mycobacterium Avium Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of IFNGR1 for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant.

Grazia Bossi, Edoardo Errichiello, Orsetta Zuffardi, Piero Marone, Vincenzina Monzillo, Daniela Barbarini, Antonio Vergori, Lorenzo Andrea Bassi, Gaetana Anna Rispoli, Mara De Amici, Marco Zecca,

Complete interferon-γ receptor 1 deficiency is a monogenic primary immunodeficiency caused by <i>IFNGR1</i> germline defects, with autosomal dominant or recessive inheritance, which results in invasive mycobacterial diseases with varying degrees of severity. Most of the autosomal recessive <i>IFNGR1</i> mutations are homozygous loss-of-function single-nucleotide variants, whereas large genomic deletions and compound ... Read more >>

J Pediatr Genet (Journal of pediatric genetics)
[2020, 9(3):186-192]

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Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis.

Edoardo Errichiello, Efthimios Dardiotis, Fiorenza Mannino, Juha Paloneva, Teresa Mattina, Orsetta Zuffardi,

Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by progressive presenile dementia and bone cysts, caused by variants in either <i>TYROBP</i> or <i>TREM2</i>. Despite the well-researched role of TREM2 and TYROBP/DAP12 in immunity, immunological phenotypes have never been reported in NHD patients. We initially diagnosed an Italian patient, ... Read more >>

Front Immunol (Frontiers in immunology)
[2019, 10:1685]

Cited: 1 time

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PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells.

Immacolata Andolfo, Gianluca De Rosa, Edoardo Errichiello, Francesco Manna, Barbara Eleni Rosato, Antonella Gambale, Annalisa Vetro, Valeria Calcaterra, Gloria Pelizzo, Lucia De Franceschi, Orsetta Zuffardi, Roberta Russo, Achille Iolascon,

PIEZO1 is a cation channel activated by mechanical force. It plays an important physiological role in several biological processes such as cardiovascular, renal, endothelial and hematopoietic systems. Two different diseases are associated with alteration in the DNA sequence of PIEZO1: (i) dehydrated hereditary stomatocytosis (DHS1, #194380), an autosomal dominant hemolytic ... Read more >>

Front Physiol (Frontiers in physiology)
[2019, 10:258]

Cited: 4 times

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Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?

Nehir Edibe Kurtas, Luciano Xumerle, Ursula Giussani, Alessandra Pansa, Laura Cardarelli, Veronica Bertini, Angelo Valetto, Thomas Liehr, Maria Clara Bonaglia, Edoardo Errichiello, Massimo Delledonne, Orsetta Zuffardi,

<h4>Background</h4>Chromothripsis, which is the local massive shattering of one or more chromosomes and their reassembly in a disordered array with frequent loss of some fragments, has been mainly reported in association with abnormal phenotypes. We report three unrelated healthy persons, two of which parenting a child with some degree of ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2019, 7(2):e00496]

Cited: 4 times

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Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Nehir Edibe Kurtas, Luciano Xumerle, Lorena Leonardelli, Massimo Delledonne, Alfredo Brusco, Krystyna Chrzanowska, Albert Schinzel, Daniela Larizza, Silvana Guerneri, Federica Natacci, Maria Clara Bonaglia, Paolo Reho, Emmanouil Manolakos, Teresa Mattina, Fiorenza Soli, Aldesia Provenzano, Ahmed H Al-Rikabi, Edoardo Errichiello, Lusine Nazaryan-Petersen, Sabrina Giglio, Niels Tommerup, Thomas Liehr, Orsetta Zuffardi,

We studied by a whole genomic approach and trios genotyping, 12 de novo, nonrecurrent small supernumerary marker chromosomes (sSMC), detected as mosaics during pre- or postnatal diagnosis and associated with increased maternal age. Four sSMCs contained pericentromeric portions only, whereas eight had additional non-contiguous portions of the same chromosome, assembled ... Read more >>

Hum Mutat (Human mutation)
[2019, 40(2):193-200]

Cited: 6 times

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Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.

Margherita Lucia De Bernardi, Ivan Ivanovski, Stefano Giuseppe Caraffi, Ilenia Maini, Maria Elisabeth Street, Allan Bayat, Marcella Zollino, Francesca Romana Lepri, Maria Gnazzo, Edoardo Errichiello, Andrea Superti-Furga, Livia Garavelli,

KBG syndrome is characterized by short stature, distinctive facial features, and developmental/cognitive delay and is caused by mutations in ANKRD11, one of the ankyrin repeat-containing cofactors. After the advent of whole exome sequencing, the number of clinical reports with KBG diagnosis has increased, leading to a revision of the phenotypic ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2018, 176(9):1991-1995]

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De novo unbalanced translocations have a complex history/aetiology.

Maria Clara Bonaglia, Nehir Edibe Kurtas, Edoardo Errichiello, Sara Bertuzzo, Silvana Beri, Mana M Mehrjouy, Aldesia Provenzano, Debora Vergani, Vanna Pecile, Francesca Novara, Paolo Reho, Marilena Carmela Di Giacomo, Giancarlo Discepoli, Roberto Giorda, Micheala A Aldred, Cíntia Barros Santos-Rebouças, Andressa Pereira Goncalves, Diane N Abuelo, Sabrina Giglio, Ivana Ricca, Fabrizia Franchi, Philippos Patsalis, Carolina Sismani, María Angeles Morí, Julián Nevado, Niels Tommerup, Orsetta Zuffardi,

We investigated 52 cases of de novo unbalanced translocations, consisting in a terminally deleted or inverted-duplicated deleted (inv-dup del) 46th chromosome to which the distal portion of another chromosome or its opposite end was transposed. Array CGH, whole-genome sequencing, qPCR, FISH, and trio genotyping were applied. A biparental origin of ... Read more >>

Hum Genet (Human genetics)
[2018, 137(10):817-829]

Cited: 5 times

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Author Correction: Mitochondrial DNA variants in colorectal carcinogenesis: Drivers or passengers?

Edoardo Errichiello, Tiziana Venesio,

The affiliation detail for the corresponding author, Edoardo Errichiello, was published incorrectly. The correct detail read as follows. ... Read more >>

J Cancer Res Clin Oncol (Journal of cancer research and clinical oncology)
[2018, 144(7):1399]

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SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant.

Edoardo Errichiello, Cristina Gorgone, Loretta Giuliano, Barbara Iadarola, Emanuela Cosentino, Marzia Rossato, Nehir Edibe Kurtas, Massimo Delledonne, Teresa Mattina, Orsetta Zuffardi,

SOX2 variants have been identified in multiple patients with severe ocular anomalies and pituitary dysfunction, in addition to various systemic features. We investigated a 26-year-old female patient suffering from spastic paraparesis, hypoplasia of corpus callosum, hypogonadotropic hypogonadism (HH) and intellectual disability, who was monitored for over 20 years, allowing a ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2018, 61(6):335-340]

Cited: 3 times

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Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).

Nehir Kurtas, Filippo Arrigoni, Edoardo Errichiello, Claudio Zucca, Cristina Maghini, Maria Grazia D'Angelo, Silvana Beri, Roberto Giorda, Sara Bertuzzo, Massimo Delledonne, Luciano Xumerle, Marzia Rossato, Orsetta Zuffardi, Maria Clara Bonaglia,

<h4>Introduction</h4>Phelan-McDermid syndrome (PMS) is caused by <i>SHANK3</i> haploinsufficiency. Its wide phenotypic variation is attributed partly to the type and size of 22q13 genomic lesion (deletion, unbalanced translocation, ring chromosome), partly to additional undefined factors. We investigated a child with severe global neurodevelopmental delay (NDD) compatible with her distal 22q13 deletion, ... Read more >>

J Med Genet (Journal of medical genetics)
[2018, 55(4):269-277]

Cited: 5 times

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A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients.

Monica Cattaneo, Lucia La Sala, Maurizio Rondinelli, Edoardo Errichiello, Orsetta Zuffardi, Annibale Alessandro Puca, Stefano Genovese, Antonio Ceriello,

<h4>Background</h4>Mutations in the gene that encodes CDGSH iron sulfur domain 2 (CISD2) are causative of Wolfram syndrome type 2 (WFS2), a rare autosomal recessive neurodegenerative disorder mainly characterized by diabetes mellitus, optic atrophy, peptic ulcer bleeding and defective platelet aggregation. Four mutations in the CISD2 gene have been reported. Among ... Read more >>

BMC Med Genet (BMC medical genetics)
[2017, 18(1):147]

Cited: 2 times

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Mitochondrial DNA variants in colorectal carcinogenesis: Drivers or passengers?

Edoardo Errichiello, Tiziana Venesio,

<h4>Introduction</h4>Mitochondrial DNA alterations have widely been reported in many age-related degenerative diseases and tumors, including colorectal cancer. In the past few years, the discovery of inter-genomic crosstalk between nucleus and mitochondria has reinforced the role of mitochondrial DNA variants in perturbing this essential signaling pathway and thus indirectly targeting nuclear ... Read more >>

J Cancer Res Clin Oncol (Journal of cancer research and clinical oncology)
[2017, 143(10):1905-1914]

Cited: 5 times

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SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.

Edoardo Errichiello, Noor Mustafa, Annalisa Vetro, Lucia Dora Notarangelo, Hugo de Jonge, Berardo Rinaldi, Debora Vergani, Sabrina Rita Giglio, Patrizia Morbini, Orsetta Zuffardi,

SMARCA4 chromatin remodelling factor is mutated in 11% of Coffin-Siris syndrome (CSS) patients and in almost all small-cell carcinoma of the ovary hypercalcaemic type (SCCOHT) tumours. Missense mutations with gain-of-function or dominant-negative effects are associated with CSS, whereas inactivating mutations, leading to loss of SMARCA4 expression, have been exclusively found ... Read more >>

J Pathol (The Journal of pathology)
[2017, 243(1):9-15]

Cited: 12 times

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Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.

Edoardo Errichiello, Annalisa Vetro, Tommaso Mina, Anita Wischmeijer, Enrico Berrino, Miriam Carella, Maria Romagnoli, Patrizia Sacchini, Tiziana Venesio, Marco Zecca, Orsetta Zuffardi,

Diamond-Blackfan anemia (DBA) is a rare congenital disorder presenting remarkable phenotypic overlap with other inherited bone marrow failure syndromes, making differential diagnosis challenging and its confirmation often reached with great delay. By whole exome sequencing, we unraveled the presence of pathogenic variants affecting genes already known to be involved in ... Read more >>

Blood Cells Mol Dis (Blood cells, molecules & diseases)
[2017, 64:38-44]

Cited: 7 times

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A Data Fusion Approach to Enhance Association Study in Epilepsy.

Simone Marini, Ivan Limongelli, Ettore Rizzo, Alberto Malovini, Edoardo Errichiello, Annalisa Vetro, Tan Da, Orsetta Zuffardi, Riccardo Bellazzi,

Among the scientific challenges posed by complex diseases with a strong genetic component, two stand out. One is unveiling the role of rare and common genetic variants; the other is the design of classification models to improve clinical diagnosis and predictive models for prognosis and personalized therapies. In this paper, ... Read more >>

PLoS One (PloS one)
[2016, 11(12):e0164940]

Cited: 0 times

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