IRIS
FALETRA, Flavio
 Distribuzione geografica
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Continente #
AS - Asia 378
NA - Nord America 274
EU - Europa 148
SA - Sud America 64
AF - Africa 11
Totale 875
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Nazione #
US - Stati Uniti d'America 256
SG - Singapore 204
CN - Cina 56
IT - Italia 50
BR - Brasile 46
VN - Vietnam 41
DE - Germania 34
HK - Hong Kong 23
IN - India 17
RU - Federazione Russa 16
AR - Argentina 13
FI - Finlandia 8
ZA - Sudafrica 8
BD - Bangladesh 7
CA - Canada 7
FR - Francia 7
MX - Messico 7
GB - Regno Unito 6
NL - Olanda 6
TR - Turchia 6
IE - Irlanda 5
KR - Corea 5
SA - Arabia Saudita 5
AT - Austria 4
IQ - Iraq 4
JP - Giappone 4
SE - Svezia 3
AE - Emirati Arabi Uniti 2
EC - Ecuador 2
ES - Italia 2
JM - Giamaica 2
UA - Ucraina 2
UY - Uruguay 2
UZ - Uzbekistan 2
AD - Andorra 1
CR - Costa Rica 1
CZ - Repubblica Ceca 1
DZ - Algeria 1
ET - Etiopia 1
HN - Honduras 1
ID - Indonesia 1
MA - Marocco 1
PK - Pakistan 1
PL - Polonia 1
RS - Serbia 1
SK - Slovacchia (Repubblica Slovacca) 1
VE - Venezuela 1
Totale 875
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Città #
Singapore 92
Ashburn 48
Hong Kong 21
Ho Chi Minh City 17
Beijing 16
Munich 16
Los Angeles 15
New York 15
Seattle 10
Hanoi 9
Houston 9
North Bergen 9
Fairfield 8
Trieste 8
São Paulo 7
Denver 6
Hefei 6
Redondo Beach 6
Turku 6
Chicago 5
Dallas 5
Dong Ket 5
Dublin 5
Johannesburg 5
Mumbai 5
Nuremberg 5
Phoenix 5
Seoul 5
Udine 5
Woodbridge 5
Amsterdam 4
Boston 4
Buffalo 4
Montreal 4
Shanghai 4
Tokyo 4
Atlanta 3
Boardman 3
Cambridge 3
Dearborn 3
Dhaka 3
Düsseldorf 3
Falkenstein 3
Ferrandina 3
Jaipur 3
Mexico City 3
Milan 3
New Delhi 3
Orem 3
Rome 3
Stockholm 3
Wilmington 3
Ankara 2
Bad Soden am Taunus 2
Baghdad 2
Brasília 2
Brooklyn 2
Columbus 2
Dammam 2
Florence 2
Goiânia 2
Guangzhou 2
Hangzhou 2
Izmir 2
Jacksonville 2
Lauterbourg 2
London 2
Montevideo 2
Ninh Bình 2
Padua 2
Piacenza 2
Poplar 2
Porto Alegre 2
Pujols 2
Riyadh 2
San Pietro Mussolino 2
Santa Clara 2
Shenzhen 2
Tucson 2
Venice 2
Vienna 2
Addis Ababa 1
Andorra la Vella 1
Ann Arbor 1
Aparecida de Goiânia 1
Araçatuba 1
Aurangabad 1
Baotou 1
Belgrade 1
Belluno 1
Belo Horizonte 1
Berazategui 1
Bismarck 1
Bologna 1
Botucatu 1
Bratislava 1
Buenos Aires 1
Campo Mourão 1
Caparaó 1
Cape Town 1
Totale 528
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Nome #
Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis 136
Longitudinal detection of somatic mutations in the saliva of head and neck squamous cell carcinoma–affected patients: a pilot study 84
The molecular landscape of hereditary ataxia: a single-center study 81
A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases 76
Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance 68
The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases 51
Hydrops fetalis associated with SARS-CoV-2 placentitis and de novo CDK13 mutation: An integrated genetic and histological analysis 49
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management 44
A Prenatal Diagnosis of Verheij Syndrome in a Fetus Harboring a de novo PUF60 Variant. 28
Prognostic role of genetic variants in recurrent pericarditis 25
The clinical impact of the first-trimester nuchal translucency between the 95th–99th percentiles 16
Hypoglycaemia due to hyperinsulinism: Diagnosis, causes and management 15
Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss 15
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme 14
Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly 13
Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12 12
Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene 11
Detection of epidermal thickening in GJB2 carriers with epidermal US1 10
Corrigendum to “Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency” [Immunol. Lett. 214 (2019) 52–54](S0165247819302342)(10.1016/j.imlet.2019.08.003) 10
A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet 9
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis 9
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype 9
Could the MED13 mutations manifest as a Kabuki-like syndrome? 9
A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature 9
Hearing loss and brain abnormalities due to pathogenic mutations in ADGRV1 gene: a case report 8
A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation 8
Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage? 8
Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations 8
Challenging Occam’s Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures 8
An unusual diagnosis for an usual test 7
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss 7
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients 7
Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis 6
A new neurodevelopmental disorder linked to heterozygous variants in UNC79 6
A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements 6
Identification of a new mutation (L46P) in the human NOG gene in an Italian patient with Symphalangism syndrome 6
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability 6
Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature 6
Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study 6
Incidence of Congenital Clubfoot: Preliminary Data from Italian CeDAP Registry 6
Immunity and genetics at the revolving doors of diagnostics in primary immunodeficiencies 5
Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations 5
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C 5
Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population 5
Epileptic encephalopathy with microcephaly in a patient with asparagine synthetase deficiency: a video-EEG report∗ 5
Evidence of inbreeding depression on human height 4
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females 4
A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family 4
When fingers point to the diagnosis 4
Genetic analysis of Italian patients with congenital tufting enteropathy 4
Dental phenotype in a patient with hypoidrotic ectodermal dysplasia and severe immunodeficiency 4
Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes 4
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series 4
A case of prenatal neurocytoma associated with ATR-16 syndrome 4
TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome 4
Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible? 4
When salt is needed to grow: Answers 4
PMM2-CDG: Phenotype and genotype in four affected family members 4
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss 4
Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature 4
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus 4
Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection 4
Genomic studies in a large cohort of hearing impaired italian patients revealed several new alleles, a rare case of uniparental disomy (Upd) and the importance to search for copy number variations 4
Delayed diagnosis of glycogen storage disease type III 4
Type i interferon-mediated autoinflammation due to DNase II deficiency 4
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss 4
Focal congenital hyperinsulinism managed by medical treatment: A diagnostic algorithm based on molecular genetic screening 4
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss 4
Two novel COH1 mutations in an Italian patient with Cohen syndrome 3
Myoclonic Absences and other Novel Findings in Warburg Micro Syndrome: Clinical Report of an Expanding RAB18 Phenotype 3
Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL 3
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure 3
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability 3
A novel mutation in the vWFA2 domain of the COCH gene in an Italian DFNA9 family 3
Congenital hyperinsulinism: Clinical and molecular analysis of a large Italian cohort 3
A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta 3
Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism 2
A brain and heart connection: X-linked periventricular heterotopia 2
Does the 1.5Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature 2
A girl with photosensitivity and hepatic steatosis 2
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability 2
A neonate with a 'milky' blood. What can it be? 2
A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease 2
A red baby should not be taken too lightly 2
Buried in the middle but guilty: Intronic mutations in the TCIRG1 gene cause human autosomal recessive osteopetrosis 2
"blaschkoid dyspigmentation" in a child: Don't forget fibroblast chromosomal analysis 2
Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia 2
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge 2
A Child With Self-Improving Hypotonia: Look at the Skin! 2
Identification of the first duplication in MYH9-related disease: A hot spot for unequal crossing-over within exon 24 of the MYH9 gene 2
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders 2
A child without kneecaps 2
First-trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low-risk population? 2
Afebrile seizures in infants: Never forget magnesium! 2
Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4 2
De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature 2
Two-gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results 2
The Challenge of Next Generation Sequencing in a Boy with Severe Mononucleosis and EBV-related Lymphoma 2
Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates 1
Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling 1
Totale 1.099
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Categoria #
all - tutte 3.490
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 3.490
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202110 0 0 0 0 0 1 0 2 0 1 0 6
2021/20226 0 1 0 0 0 0 1 0 0 2 1 1
2022/20236 2 0 1 0 0 1 0 0 0 1 0 1
2023/202411 1 0 0 1 1 0 0 0 6 0 0 2
2024/2025218 7 3 6 22 5 11 14 8 20 15 58 49
2025/2026808 45 65 47 75 266 310 0 0 0 0 0 0
Totale 1.117