IRIS
BRANCATI, FRANCESCO
 Distribuzione geografica
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Continente #
NA - Nord America 5.871
EU - Europa 4.442
AS - Asia 3.256
SA - Sud America 480
AF - Africa 42
Continente sconosciuto - Info sul continente non disponibili 1
OC - Oceania 1
Totale 14.093
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Nazione #
US - Stati Uniti d'America 5.815
SG - Singapore 1.430
SE - Svezia 1.220
IE - Irlanda 952
CN - Cina 745
DE - Germania 644
HK - Hong Kong 514
BR - Brasile 414
IT - Italia 389
RU - Federazione Russa 371
UA - Ucraina 272
TR - Turchia 266
GB - Regno Unito 219
FI - Finlandia 151
VN - Vietnam 139
FR - Francia 84
IN - India 57
CA - Canada 31
PL - Polonia 26
AR - Argentina 24
NL - Olanda 23
ES - Italia 22
BE - Belgio 19
AT - Austria 18
ZA - Sudafrica 15
BD - Bangladesh 14
CZ - Repubblica Ceca 14
EC - Ecuador 14
IQ - Iraq 13
MX - Messico 13
JP - Giappone 12
CO - Colombia 9
ID - Indonesia 9
PK - Pakistan 7
TN - Tunisia 7
UZ - Uzbekistan 6
VE - Venezuela 6
KE - Kenya 5
KR - Corea 5
KZ - Kazakistan 5
LT - Lituania 5
MA - Marocco 5
SA - Arabia Saudita 5
JM - Giamaica 4
PE - Perù 4
PY - Paraguay 4
AE - Emirati Arabi Uniti 3
DZ - Algeria 3
JO - Giordania 3
NP - Nepal 3
UY - Uruguay 3
BA - Bosnia-Erzegovina 2
CL - Cile 2
IL - Israele 2
MD - Moldavia 2
MY - Malesia 2
NI - Nicaragua 2
PH - Filippine 2
RS - Serbia 2
SN - Senegal 2
TL - Timor Orientale 2
TW - Taiwan 2
AL - Albania 1
AU - Australia 1
AZ - Azerbaigian 1
BB - Barbados 1
BG - Bulgaria 1
BH - Bahrain 1
BN - Brunei Darussalam 1
CI - Costa d'Avorio 1
CY - Cipro 1
DO - Repubblica Dominicana 1
EE - Estonia 1
ET - Etiopia 1
GR - Grecia 1
GT - Guatemala 1
IR - Iran 1
KW - Kuwait 1
LB - Libano 1
MN - Mongolia 1
MR - Mauritania 1
OM - Oman 1
PA - Panama 1
PT - Portogallo 1
RO - Romania 1
SV - El Salvador 1
TH - Thailandia 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 14.093
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Città #
Jacksonville 1.089
Dublin 944
Chandler 844
Singapore 705
Dallas 694
Hong Kong 512
Santa Clara 358
Boardman 305
Nanjing 238
Ashburn 237
Izmir 235
Munich 219
New York 195
Lawrence 155
Princeton 155
Wilmington 126
L’Aquila 122
San Mateo 120
Helsinki 112
The Dalles 95
Bremen 94
Beijing 86
Ann Arbor 63
Milan 62
Moscow 60
Woodbridge 59
L'aquila 58
Nanchang 56
Columbus 50
Los Angeles 50
Ho Chi Minh City 48
São Paulo 43
Verona 36
Hebei 34
Mumbai 32
Shenyang 30
Dearborn 28
Kunming 28
Mountain View 28
Hanoi 26
Tianjin 24
Warsaw 23
Jiaxing 22
Shanghai 21
Rome 20
Brussels 19
Turku 18
Council Bluffs 17
Denver 17
Falls Church 16
Hefei 16
Brooklyn 15
Lanzhou 15
Stockholm 15
Changsha 14
Norwalk 14
Atlanta 12
Belo Horizonte 12
Boston 12
Orem 12
Curitiba 11
Des Moines 11
Tokyo 11
Brno 10
Changchun 10
Dong Ket 10
London 10
Montreal 10
Rio de Janeiro 10
Vienna 10
Amsterdam 9
Ankara 9
Phoenix 9
Poplar 9
San Francisco 9
Baghdad 8
Berlin 8
Brasília 8
Chennai 8
Frankfurt am Main 8
Lappeenranta 8
Seattle 8
Toronto 8
Buenos Aires 7
Houston 7
Johannesburg 7
Nuremberg 7
Charlotte 6
Guayaquil 6
Ottawa 6
Recife 6
Tashkent 6
Chengdu 5
Gavirate 5
Haiphong 5
Jinan 5
Mexico City 5
Pescara 5
Raleigh 5
Redwood City 5
Totale 9.075
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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 269
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features 243
A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype 159
Formation of new chromatin domains determines pathogenicity of genomic duplications 137
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 125
A novel family with an unusual early onset generalized dystonia. 109
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants 109
Assessment of the retinal posterior pole in dominant optic atrophy by spectral-domain optical coherence tomography and microperimetry 108
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 107
Reticulate vascular lesions and a large head. 106
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. 106
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 105
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome 104
Joubert Syndrome and related disorders. 104
RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis 103
A single strand conformation polymorphism-based carrier test for spinal muscular atrophy. 101
KBG syndrome in a cohort of Italian patients. 101
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. 100
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 96
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 95
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. 95
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. 95
Genotypes and phenotypes of Joubert syndrome and related disorders 94
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female 94
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome 93
Membranous Nectin-4 expression is a risk factor for distant relapse of T1-T2, N0 luminal-A early breast cancer 93
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 93
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders 92
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 92
Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1 91
Diffusion tensor imaging in Joubert syndrome 91
Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women. 90
Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome 90
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View 90
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome. 89
A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay 89
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin 88
A family study on primary blepharospasm. 88
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. 88
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 88
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. 87
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. 87
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. 87
PARK6-linked parkinsonism occurs in several European families. 85
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 85
Delineation of MidXq28-Duplication Syndrome Distal to MECP2 and Proximal to RAB39B genes 85
Ablepharon-macrostomia syndrome in a 46-year-old woman. 84
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. 84
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes 84
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations 84
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 84
A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial PartialLipodystrophy 84
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1 84
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. 83
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. 83
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). 83
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome 83
Mutations in PYCR1 cause cutis laxa with progeroid features. 82
Cerebellar Disorders in Children. 2012 eds. Chapter11: Joubert Syndrome and Related Disorders. Mac Keith Press. 82
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 82
Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome 82
Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus. 82
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 82
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. 81
Putaminal, but not nigral alterations, characterize hemiparkinsonism-hemiatrophy syndrome: a case report. 81
KBG syndrome 81
H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome 81
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy 81
BRCA genetic result disclosure for women with Breast Cancer: influence of +/- predisposition genetic mutation 80
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. 80
p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis 80
Normal cognitive functions in joubert syndrome. 80
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. 80
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. 80
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. 80
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. 80
Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene 80
Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum. 80
Nectinopathies: an emerging group of ectodermal dysplasia syndromes. 80
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions 80
Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies. 79
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. 79
Improving diagnosis for rare diseases: The experience of the Italian undiagnosed Rare diseases network 79
Measles skin rash: Infection of lymphoid and myeloid cells in the dermis precedes viral dissemination to the epidermis 79
The Birt-Hogg-Dubé Syndrome: A Clinical Diagnostic Challenge 78
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 78
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement 78
De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver 78
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. 78
Mutation screening of the DYT6/THAP1 gene in Italy. 78
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene 77
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome 77
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. 77
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 77
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum 77
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 77
Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy. 77
Primary hypothyroidism and osteopenia associated with Neuhauser syndrome. 76
Clinical and laboratory phenotype associated with the aspirin-like defect. 76
Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome 75
Totale 9.153
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Categoria #
all - tutte 64.290
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 64.290
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021899 0 0 0 0 0 103 153 6 156 107 263 111
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
2025/20262.661 210 567 532 665 460 227 0 0 0 0 0 0
Totale 14.293