IRIS
FICHERA, Marco
 Distribuzione geografica
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Continente #
EU - Europa 256
NA - Nord America 47
AF - Africa 18
AS - Asia 17
OC - Oceania 1
Totale 339
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Nazione #
IT - Italia 112
FR - Francia 80
US - Stati Uniti d'America 45
IE - Irlanda 22
CI - Costa d'Avorio 18
RU - Federazione Russa 9
PL - Polonia 6
CZ - Repubblica Ceca 5
FI - Finlandia 5
VN - Vietnam 5
CN - Cina 3
DE - Germania 3
DK - Danimarca 3
HK - Hong Kong 3
ES - Italia 2
PA - Panama 2
AE - Emirati Arabi Uniti 1
AU - Australia 1
BE - Belgio 1
CH - Svizzera 1
GB - Regno Unito 1
GR - Grecia 1
HR - Croazia 1
IL - Israele 1
IN - India 1
KR - Corea 1
PH - Filippine 1
RO - Romania 1
SE - Svezia 1
SI - Slovenia 1
TR - Turchia 1
UA - Ucraina 1
Totale 339
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Città #
Catania 46
Dublin 22
Abidjan 18
Columbus 8
Ashburn 7
Rome 7
Boardman 6
Paris 6
Lappeenranta 5
Aci Catena 4
Council Bluffs 4
Dong Ket 4
Mandello del Lario 4
Milan 4
Fontebuona 3
Bethesda 2
Bologna 2
Juan Díaz 2
Palermo 2
Seattle 2
Syracuse 2
Torre Annunziata 2
Vittoria 2
Warsaw 2
Abu Dhabi 1
Adrano 1
Alquerias del Nino Perdido 1
Boston 1
Bremen 1
Bromma 1
Centuripe 1
Cincinnati 1
Copenhagen 1
Ebikon 1
Edegem 1
Formigine 1
Frankfurt am Main 1
Frascati 1
Hamburg 1
Hanoi 1
Hong Kong 1
Kai Yi Wan 1
Katowice 1
Manfredonia 1
Marcallo con Casone 1
Maribor 1
Messina 1
Milpitas 1
Mnichovice 1
Montecatini Terme 1
Monterey Park 1
Moscow 1
Mountain View 1
Naples 1
Owings Mills 1
Piscataway 1
Quezon City 1
Reggio Nell'emilia 1
Rehovot 1
Rimini 1
Rochester 1
Rometta 1
San Jose 1
Seoul 1
Siena 1
Terni 1
Turin 1
Udine 1
Vadodara 1
Verona 1
Vicenza 1
Vigo 1
Vista 1
Wellton 1
Zagreb 1
Totale 217
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Nome #
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity, file dfe4d22b-7872-bb0a-e053-d805fe0a78d9 43
Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily, file dfe4d22e-c72d-bb0a-e053-d805fe0a78d9 41
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder, file dfe4d22b-669c-bb0a-e053-d805fe0a78d9 31
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability., file dfe4d22b-afc7-bb0a-e053-d805fe0a78d9 23
The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?, file 84fbe828-d467-4811-860e-b33088fc52d1 17
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID, file dfe4d22b-9d1c-bb0a-e053-d805fe0a78d9 15
Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion, file 540527f0-7b79-42da-8ce1-520c05656f79 14
Antitumoural activity of a cytotoxic peptide of Lactobacillus casei peptidoglycan and its interaction with mitochondrial-bound hexokinase, file dfe4d22b-b2ca-bb0a-e053-d805fe0a78d9 13
Discriminatory Weight of SNPs in Spike SARS-CoV-2 Variants: A Technically Rapid, Unambiguous, and Bioinformatically Validated Laboratory Approach, file dfe4d22e-e60f-bb0a-e053-d805fe0a78d9 11
Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome, file dfe4d22e-2e03-bb0a-e053-d805fe0a78d9 10
PARK2 microdeletion in a multiplex family with autism spectrum disorder, file be9c74d3-f228-4c3e-acee-0901e2cb4adb 9
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome, file dfe4d227-a3d9-bb0a-e053-d805fe0a78d9 9
Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome, file dfe4d22e-2e07-bb0a-e053-d805fe0a78d9 9
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants, file dfe4d229-93e6-bb0a-e053-d805fe0a78d9 8
Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting, file b98f2787-078f-4d46-baa6-e21a0c1d2ae9 7
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome, file c556a16a-9b1f-46d3-a014-859f0046637e 7
Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome, file dfe4d22e-2c40-bb0a-e053-d805fe0a78d9 7
6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies., file 6ce14ee8-84d4-47d4-abd7-24df05ee834e 6
Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes, file a24b77bf-d989-442e-92b9-8cd90e04d5d9 6
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes, file 15793ed8-ad90-40de-98e1-3e667f3ded06 5
Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes, file 237e8012-c6ef-420f-8b50-549e975c5e03 5
Quantitative evaluation of partial deletions of the DAZ gene cluster, file dfe4d227-0915-bb0a-e053-d805fe0a78d9 5
Cryptic deletions are a common finding in "balanced'' reciprocal and complex chromosome rearrangements: A study of 59 patients, file 34f0d2fb-a9e3-4945-b70b-1b512bf3c935 4
Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response, file 53373bbe-6ee4-4730-9734-d8f73f59771c 4
The molecular landscape of ASPM mutations in primary microcephaly, file 58d5e597-5bbc-4a47-a1eb-e18eba69b711 4
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome, file 9074307e-6700-45ae-bcf4-f0a5b64aa1f2 4
Sox11 Is Required to Maintain Proper Levels of Hedgehog Signaling during Vertebrate Ocular Morphogenesis, file 6885dc66-162b-46ac-a8bc-2769a0379800 3
Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients, file dfe4d227-2215-bb0a-e053-d805fe0a78d9 3
Balanced complex rearrangements: how many are really balanced?, file dfe4d227-39ba-bb0a-e053-d805fe0a78d9 3
Spontaneous transmission from a father to his son of a Y chromosome microdeletion involving the deleted in azoospermia (DAZ) gene, file dfe4d227-1bd0-bb0a-e053-d805fe0a78d9 2
DNA mutation rate in oligoasthenoteratozoospermic patients with elevated sperm aneuploidy frequency and normal karyotype, file dfe4d227-45aa-bb0a-e053-d805fe0a78d9 2
Valutazione del tasso di mutazioni spontanee nel DNA di pazienti oligoastenoteratozoospermici con frequenza elevata di aneuploidie spermatiche, file dfe4d227-634a-bb0a-e053-d805fe0a78d9 2
Recurrent duplications of 17q12 associated with variable phenotypes, file dfe4d22b-6695-bb0a-e053-d805fe0a78d9 2
Klippel-Trenaunay syndrome in a boy with concomitant ipsilateral overgrowth and undergrowth, file dfe4d227-fc8c-bb0a-e053-d805fe0a78d9 1
Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis, file dfe4d229-94ea-bb0a-e053-d805fe0a78d9 1
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders., file dfe4d22a-dff3-bb0a-e053-d805fe0a78d9 1
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy, file dfe4d22b-9d19-bb0a-e053-d805fe0a78d9 1
Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting, file dfe4d22b-de19-bb0a-e053-d805fe0a78d9 1
Totale 339
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Categoria #
all - tutte 1.252
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 1.252
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20203 0 0 0 0 0 0 0 0 0 2 1 0
2020/202115 1 1 0 0 0 0 0 2 3 1 2 5
2021/202222 2 1 0 1 3 1 2 4 4 2 1 1
2022/2023101 2 1 3 1 21 19 1 10 11 7 21 4
2023/2024194 3 9 14 15 9 49 34 33 8 13 7 0
Totale 339