IRIS
BRANCATI, FRANCESCO
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 7.739
EU - Europa 5.254
AS - Asia 3.918
SA - Sud America 564
Continente sconosciuto - Info sul continente non disponibili 205
AF - Africa 63
OC - Oceania 2
Totale 17.745
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 7.624
SG - Singapore 1.632
SE - Svezia 1.221
IE - Irlanda 962
CN - Cina 823
RU - Federazione Russa 820
DE - Germania 664
HK - Hong Kong 555
IT - Italia 546
BR - Brasile 466
VN - Vietnam 375
UA - Ucraina 275
TR - Turchia 271
GB - Regno Unito 235
FR - Francia 202
FI - Finlandia 157
IN - India 68
CA - Canada 59
BD - Bangladesh 57
NL - Olanda 35
AR - Argentina 30
PL - Polonia 29
ES - Italia 25
MX - Messico 23
AT - Austria 21
JP - Giappone 21
BE - Belgio 20
EC - Ecuador 20
IQ - Iraq 19
ZA - Sudafrica 17
CO - Colombia 14
CZ - Repubblica Ceca 14
TN - Tunisia 12
ID - Indonesia 11
MA - Marocco 10
PK - Pakistan 8
SA - Arabia Saudita 8
VE - Venezuela 8
CL - Cile 7
JM - Giamaica 7
PE - Perù 7
PH - Filippine 7
PY - Paraguay 7
UZ - Uzbekistan 7
CR - Costa Rica 6
JO - Giordania 6
KZ - Kazakistan 6
DZ - Algeria 5
KE - Kenya 5
KR - Corea 5
LT - Lituania 5
NP - Nepal 5
AE - Emirati Arabi Uniti 4
MY - Malesia 4
NI - Nicaragua 4
TW - Taiwan 4
EG - Egitto 3
GT - Guatemala 3
NO - Norvegia 3
OM - Oman 3
TH - Thailandia 3
TT - Trinidad e Tobago 3
UY - Uruguay 3
AU - Australia 2
BA - Bosnia-Erzegovina 2
BH - Bahrain 2
BN - Brunei Darussalam 2
BO - Bolivia 2
CY - Cipro 2
DO - Repubblica Dominicana 2
ET - Etiopia 2
HN - Honduras 2
IL - Israele 2
MD - Moldavia 2
PR - Porto Rico 2
PT - Portogallo 2
RO - Romania 2
RS - Serbia 2
SN - Senegal 2
TL - Timor Orientale 2
AL - Albania 1
AZ - Azerbaigian 1
BB - Barbados 1
BG - Bulgaria 1
BJ - Benin 1
CH - Svizzera 1
CI - Costa d'Avorio 1
DK - Danimarca 1
EE - Estonia 1
GD - Grenada 1
GR - Grecia 1
HU - Ungheria 1
IR - Iran 1
KW - Kuwait 1
LB - Libano 1
MK - Macedonia 1
MM - Myanmar 1
MN - Mongolia 1
MR - Mauritania 1
MU - Mauritius 1
Totale 17.533
Salva come PNG Salva come JPEG
Città #
Jacksonville 1.091
Dublin 950
Singapore 852
Chandler 844
San Jose 728
Dallas 701
Hong Kong 545
Ashburn 497
Santa Clara 384
Boardman 305
Council Bluffs 277
The Dalles 263
Nanjing 238
Izmir 235
New York 223
Munich 219
Lawrence 155
Princeton 155
Moscow 130
Ho Chi Minh City 128
Wilmington 128
L’Aquila 125
San Mateo 120
Helsinki 112
Lauterbourg 109
Beijing 106
Bremen 94
Milan 83
Hanoi 80
Los Angeles 74
Ann Arbor 63
São Paulo 60
Woodbridge 59
L'aquila 58
Nanchang 56
Columbus 53
Verona 38
Rome 36
Hebei 34
Mumbai 34
Shenyang 30
Dearborn 28
Kunming 28
Mountain View 28
Frankfurt am Main 25
Orem 25
Tianjin 24
Warsaw 24
Jiaxing 22
Shanghai 22
Brussels 20
Denver 20
Atlanta 18
Brooklyn 18
Montreal 18
Tokyo 18
Turku 18
Da Nang 16
Falls Church 16
Hefei 16
Lanzhou 15
Stockholm 15
Changsha 14
Des Moines 14
Lappeenranta 14
Norwalk 14
Toronto 14
Belo Horizonte 13
Haiphong 13
Rio de Janeiro 13
Boston 12
London 12
Phoenix 12
Curitiba 11
San Francisco 11
Vienna 11
Amsterdam 10
Baghdad 10
Brno 10
Changchun 10
Chennai 10
Dong Ket 10
Ankara 9
Hải Dương 9
Johannesburg 9
Mexico City 9
Poplar 9
Berlin 8
Brasília 8
City of London 8
Houston 8
Nuremberg 8
Ottawa 8
Perugia 8
Seattle 8
Biên Hòa 7
Buenos Aires 7
Buffalo 7
Tampa 7
Tashkent 7
Totale 11.288
Salva come PNG Salva come JPEG
Nome #
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 308
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features 293
BRCA genetic result disclosure for women with Breast Cancer: influence of +/- predisposition genetic mutation 225
A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype 177
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 170
Formation of new chromatin domains determines pathogenicity of genomic duplications 152
Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations 140
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome 138
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 133
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants 131
Brugada Syndrome in Sports Cardiology: An Expert Opinion Statement of the Italian Society of Sports Cardiology (SICSport) 130
RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis 127
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. 123
A novel family with an unusual early onset generalized dystonia. 121
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. 121
Assessment of the retinal posterior pole in dominant optic atrophy by spectral-domain optical coherence tomography and microperimetry 121
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 121
Joubert Syndrome and related disorders. 120
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View 119
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female 118
Cardiological Manifestations in Males and Females Affected by NAA10‐Related Disease 114
Reticulate vascular lesions and a large head. 113
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 113
KBG syndrome in a cohort of Italian patients. 113
Occurrence of multiple melanomas in a patient with punctate palmoplantar keratoderma type-1A associated to alpha and gamma adaptin binding protein 112
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. 112
A single strand conformation polymorphism-based carrier test for spinal muscular atrophy. 112
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 111
Membranous Nectin-4 expression is a risk factor for distant relapse of T1-T2, N0 luminal-A early breast cancer 111
Correction to: Left Ventricular Non-Compaction, Atrial Fibrillation and ANK2 Mutation in a Young Athlete 110
Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women. 110
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome 110
Diffusion tensor imaging in Joubert syndrome 110
Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome 109
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 108
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 108
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. 108
First and second branchial arch involvement in mandibulofacial dysostosis Guion-Almeida type 107
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. 107
Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1 106
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. 106
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 106
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. 106
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. 105
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. 105
Measles skin rash: Infection of lymphoid and myeloid cells in the dermis precedes viral dissemination to the epidermis 105
KBG syndrome 104
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. 104
A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay 104
The Birt-Hogg-Dubé Syndrome: A Clinical Diagnostic Challenge 103
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin 103
A family study on primary blepharospasm. 103
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome. 103
H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome 103
Perceived cancer risk and genetic counseling: A biopsychological perspective 102
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy 102
Mutations in PYCR1 cause cutis laxa with progeroid features. 101
Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome 101
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement 101
Genotypes and phenotypes of Joubert syndrome and related disorders 101
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 101
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders 101
Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene 101
The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants 100
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. 100
Ablepharon-macrostomia syndrome in a 46-year-old woman. 100
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 100
An explainable model of host genetic interactions linked to COVID-19 severity 100
p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis 99
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). 99
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations 99
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 99
PARK6-linked parkinsonism occurs in several European families. 98
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. 98
A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial PartialLipodystrophy 98
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome 98
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 98
Normal cognitive functions in joubert syndrome. 97
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 97
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome 96
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. 96
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes 96
De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver 96
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. 96
Delineation of MidXq28-Duplication Syndrome Distal to MECP2 and Proximal to RAB39B genes 96
Improving diagnosis for rare diseases: The experience of the Italian undiagnosed Rare diseases network 96
Patient perspective in perceived comparative genetic mutation risk: An exploratory review 95
Putaminal, but not nigral alterations, characterize hemiparkinsonism-hemiatrophy syndrome: a case report. 95
Cerebellar Disorders in Children. 2012 eds. Chapter11: Joubert Syndrome and Related Disorders. Mac Keith Press. 95
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 95
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy 95
Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus. 95
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 94
PARK6 is a common cause of familial parkinsonism. 94
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions 94
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 93
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. 93
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1 93
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. 92
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. 92
Totale 11.230
Salva come PNG Salva come JPEG
Categoria #
all - tutte 77.323
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 77.323
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.259 0 4 693 107 15 11 13 70 55 6 62 223
2022/20232.662 187 87 32 247 368 219 11 167 1.208 17 71 48
2023/2024588 108 49 35 24 45 190 10 50 7 25 12 33
2024/20253.333 43 37 389 94 335 402 508 318 654 204 197 152
2025/20265.663 210 567 532 665 460 369 1.008 246 506 591 414 95
2026/2027450 183 267 0 0 0 0 0 0 0 0 0 0
Totale 17.745