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Edoardo Errichiello
University of Pavia
26Publications
6H-index
186Citations
Publications 26
Newest
#1Edoardo Errichiello (UNIPV: University of Pavia)H-Index: 6
#2Efthimios Dardiotis (RMIT: RMIT University)H-Index: 22
Last.Orsetta Zuffardi (UNIPV: University of Pavia)H-Index: 62
view all 6 authors...
Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by progressive presenile dementia and bone cysts, caused by variants in either TYROBP or TREM2. Despite the longly-investigated role of TREM2 and TYROBP/DAP12 in immunity, immunological phenotypes have never been reported in NHD patients. We initially diagnosed by whole-exome sequencing a novel Italian patient with classical NHD clinical sequelae who additionally showed decrease of NK cells and autoimmunity features u...
#1Immacolata Andolfo (University of Naples Federico II)H-Index: 15
#2Gianluca De Rosa (University of Naples Federico II)H-Index: 5
Last.Achille Iolascon (University of Naples Federico II)H-Index: 49
view all 13 authors...
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 anemia caused by gain-of-function mutations; (ii) lymphatic dysplasia with non-immune fetal hydrops (LMPH3, #616843), an aut...
#1Nehir Edibe Kurtas (UNIPV: University of Pavia)H-Index: 3
#2Luciano Xumerle (University of Verona)H-Index: 10
Last.Orsetta Zuffardi (UNIPV: University of Pavia)H-Index: 62
view all 23 authors...
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 together in a disordered fashion by repair-based mechanisms in a chromothriptic event. Maternal hetero/isodisomy was detected wit...
#1Ilenia Maini (AUSL: Academy for Urban School Leadership)H-Index: 1
#2Ivan Ivanovski (University of Modena and Reggio Emilia)H-Index: 5
Last.Livia Garavelli (AUSL: Academy for Urban School Leadership)H-Index: 27
view all 17 authors...
Since 2010, array-CGH (aCGH) has been the first-tier test in the diagnostic approach of children with neurodevelopmental disorders (NDD) or multiple congenital anomalies (MCA) of unknown origin. Its broad application led to the detection of numerous variants of uncertain clinical significance (VOUS). How to appropriately interpret aCGH results represents a challenge for the clinician. We present a retrospective study on 293 patients with age range 1 month - 29 years (median 7 years) with NDD and...
#2Nehir Edibe Kurtas (UNIPV: University of Pavia)H-Index: 3
Last.Orsetta Zuffardi (UNIPV: University of Pavia)H-Index: 62
view all 27 authors...
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 the deletion and duplication was detected in 6 cases, whereas in 46, both imbalances have the same parental origin. Moreover, the duplicated region wa...
#1Margherita Lucia De Bernardi (AUSL: Academy for Urban School Leadership)
#2Ivan Ivanovski (AUSL: Academy for Urban School Leadership)H-Index: 5
Last.Livia Garavelli (AUSL: Academy for Urban School Leadership)H-Index: 27
view all 12 authors...
Abstract Interstitial duplications of the short arm of the X chromosome have been rarely described, especially in males. Usually boys present mental retardation, multiple congenital abnormalities and short stature. We describe two sons one with a 2q37.3 deletion and a Xp11.4 duplication and the other with Xp11.4 duplication only, identified by array-CGH. They both presented a phenotype characterized by poor growth, mild facial dysmorphisms, autism and developmental delay. The 2q37.3 identified c...
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