IRIS
BRANCATI, FRANCESCO
 Distribuzione geografica
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Continente #
NA - Nord America 6.937
EU - Europa 5.128
AS - Asia 3.830
SA - Sud America 526
AF - Africa 61
OC - Oceania 2
Continente sconosciuto - Info sul continente non disponibili 1
Totale 16.485
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Nazione #
US - Stati Uniti d'America 6.865
SG - Singapore 1.608
SE - Svezia 1.221
IE - Irlanda 961
RU - Federazione Russa 820
CN - Cina 808
DE - Germania 664
HK - Hong Kong 549
BR - Brasile 442
IT - Italia 434
VN - Vietnam 374
UA - Ucraina 274
TR - Turchia 271
GB - Regno Unito 234
FR - Francia 202
FI - Finlandia 157
IN - India 67
CA - Canada 37
NL - Olanda 32
PL - Polonia 29
AR - Argentina 27
ES - Italia 25
MX - Messico 21
AT - Austria 20
JP - Giappone 20
BD - Bangladesh 19
BE - Belgio 19
IQ - Iraq 19
ZA - Sudafrica 17
EC - Ecuador 16
CZ - Repubblica Ceca 14
TN - Tunisia 12
CO - Colombia 11
ID - Indonesia 11
MA - Marocco 10
PK - Pakistan 8
SA - Arabia Saudita 8
CL - Cile 7
PE - Perù 7
PH - Filippine 7
UZ - Uzbekistan 7
VE - Venezuela 7
JO - Giordania 6
KZ - Kazakistan 6
DZ - Algeria 5
JM - Giamaica 5
KE - Kenya 5
KR - Corea 5
LT - Lituania 5
PY - Paraguay 5
AE - Emirati Arabi Uniti 4
MY - Malesia 4
TW - Taiwan 4
NP - Nepal 3
OM - Oman 3
TH - Thailandia 3
UY - Uruguay 3
AU - Australia 2
BA - Bosnia-Erzegovina 2
BH - Bahrain 2
BN - Brunei Darussalam 2
CY - Cipro 2
EG - Egitto 2
ET - Etiopia 2
GT - Guatemala 2
IL - Israele 2
MD - Moldavia 2
NI - Nicaragua 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
BO - Bolivia 1
CH - Svizzera 1
CI - Costa d'Avorio 1
DO - Repubblica Dominicana 1
EE - Estonia 1
GR - Grecia 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
PA - Panama 1
PT - Portogallo 1
SI - Slovenia 1
SV - El Salvador 1
TT - Trinidad e Tobago 1
TZ - Tanzania 1
UG - Uganda 1
VA - Santa Sede (Città del Vaticano) 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 16.485
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Città #
Jacksonville 1.090
Dublin 950
Singapore 845
Chandler 844
Dallas 695
San Jose 603
Hong Kong 540
Ashburn 407
Santa Clara 372
Boardman 305
The Dalles 263
Nanjing 238
Izmir 235
Munich 219
New York 203
Lawrence 155
Princeton 155
Moscow 130
Ho Chi Minh City 128
Wilmington 126
L’Aquila 122
San Mateo 120
Helsinki 112
Lauterbourg 109
Beijing 101
Bremen 94
Hanoi 80
Ann Arbor 63
Milan 63
Woodbridge 59
L'aquila 58
Nanchang 56
Los Angeles 55
Columbus 50
São Paulo 46
Council Bluffs 45
Verona 36
Hebei 34
Mumbai 33
Shenyang 30
Dearborn 28
Kunming 28
Mountain View 28
Frankfurt am Main 25
Tianjin 24
Warsaw 24
Jiaxing 22
Rome 22
Shanghai 22
Orem 20
Brussels 19
Denver 18
Tokyo 18
Turku 18
Da Nang 16
Falls Church 16
Hefei 16
Brooklyn 15
Lanzhou 15
Stockholm 15
Changsha 14
Lappeenranta 14
Montreal 14
Norwalk 14
Atlanta 13
Belo Horizonte 13
Des Moines 13
Haiphong 13
Boston 12
Rio de Janeiro 12
Curitiba 11
London 11
Phoenix 11
Vienna 11
Amsterdam 10
Baghdad 10
Brno 10
Changchun 10
Chennai 10
Dong Ket 10
Ankara 9
Hải Dương 9
Johannesburg 9
Poplar 9
San Francisco 9
Berlin 8
Brasília 8
City of London 8
Nuremberg 8
Seattle 8
Toronto 8
Biên Hòa 7
Buenos Aires 7
Houston 7
Mexico City 7
Ottawa 7
Perugia 7
Tashkent 7
Amman 6
Charlotte 6
Totale 10.668
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Nome #
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 297
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features 282
A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype 171
Formation of new chromatin domains determines pathogenicity of genomic duplications 147
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 143
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 137
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome 133
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants 128
RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis 125
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. 119
A novel family with an unusual early onset generalized dystonia. 118
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 118
Assessment of the retinal posterior pole in dominant optic atrophy by spectral-domain optical coherence tomography and microperimetry 117
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 117
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. 116
Joubert Syndrome and related disorders. 115
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female 115
KBG syndrome in a cohort of Italian patients. 112
A single strand conformation polymorphism-based carrier test for spinal muscular atrophy. 111
Reticulate vascular lesions and a large head. 110
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 107
Diffusion tensor imaging in Joubert syndrome 107
Membranous Nectin-4 expression is a risk factor for distant relapse of T1-T2, N0 luminal-A early breast cancer 106
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 106
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. 106
Correction to: Left Ventricular Non-Compaction, Atrial Fibrillation and ANK2 Mutation in a Young Athlete 105
Occurrence of multiple melanomas in a patient with punctate palmoplantar keratoderma type-1A associated to alpha and gamma adaptin binding protein 105
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome 105
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. 105
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 105
Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women. 103
Measles skin rash: Infection of lymphoid and myeloid cells in the dermis precedes viral dissemination to the epidermis 103
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. 102
A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay 102
BRCA genetic result disclosure for women with Breast Cancer: influence of +/- predisposition genetic mutation 101
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 101
Cardiological Manifestations in Males and Females Affected by NAA10‐Related Disease 101
First and second branchial arch involvement in mandibulofacial dysostosis Guion-Almeida type 101
Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1 101
Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome 101
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View 101
H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome 101
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. 100
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. 100
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders 100
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin 99
A family study on primary blepharospasm. 99
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. 99
Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome 99
Genotypes and phenotypes of Joubert syndrome and related disorders 99
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 99
Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene 99
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy 99
The Birt-Hogg-Dubé Syndrome: A Clinical Diagnostic Challenge 98
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome. 98
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. 98
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 98
KBG syndrome 97
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 97
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). 96
A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial PartialLipodystrophy 96
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 96
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome 96
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. 95
Ablepharon-macrostomia syndrome in a 46-year-old woman. 95
Mutations in PYCR1 cause cutis laxa with progeroid features. 95
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations 95
De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver 95
Brugada Syndrome in Sports Cardiology: An Expert Opinion Statement of the Italian Society of Sports Cardiology (SICSport) 94
PARK6-linked parkinsonism occurs in several European families. 94
Delineation of MidXq28-Duplication Syndrome Distal to MECP2 and Proximal to RAB39B genes 94
Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus. 94
An explainable model of host genetic interactions linked to COVID-19 severity 94
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement 93
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 93
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 93
Perceived cancer risk and genetic counseling: A biopsychological perspective 92
p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis 92
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. 91
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. 91
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. 91
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes 91
Normal cognitive functions in joubert syndrome. 91
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 91
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. 91
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 91
Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum. 91
Improving diagnosis for rare diseases: The experience of the Italian undiagnosed Rare diseases network 91
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions 91
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1 91
Putaminal, but not nigral alterations, characterize hemiparkinsonism-hemiatrophy syndrome: a case report. 90
Cerebellar Disorders in Children. 2012 eds. Chapter11: Joubert Syndrome and Related Disorders. Mac Keith Press. 90
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome 89
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. 89
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. 89
The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants 88
Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome 88
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. 88
Genotypic categorization of loeys-dietz syndrome based on 24 novel families and literature data 88
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. 88
Totale 10.555
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Categoria #
all - tutte 68.706
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 68.706
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021481 0 0 0 0 0 0 0 0 0 107 263 111
2021/20221.365 106 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
2025/20265.056 210 567 532 665 460 369 1.008 246 506 493 0 0
Totale 16.688