IRIS
BRANCATI, FRANCESCO
 Distribuzione geografica
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Continente #
NA - Nord America 7.396
EU - Europa 5.195
AS - Asia 3.888
SA - Sud America 535
AF - Africa 62
Continente sconosciuto - Info sul continente non disponibili 2
OC - Oceania 2
Totale 17.080
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Nazione #
US - Stati Uniti d'America 7.308
SG - Singapore 1.626
SE - Svezia 1.221
IE - Irlanda 961
RU - Federazione Russa 820
CN - Cina 818
DE - Germania 664
HK - Hong Kong 551
IT - Italia 493
BR - Brasile 446
VN - Vietnam 374
UA - Ucraina 274
TR - Turchia 271
GB - Regno Unito 234
FR - Francia 202
FI - Finlandia 157
IN - India 68
BD - Bangladesh 46
CA - Canada 45
NL - Olanda 34
PL - Polonia 29
AR - Argentina 28
ES - Italia 25
MX - Messico 23
AT - Austria 21
BE - Belgio 20
JP - Giappone 20
IQ - Iraq 19
EC - Ecuador 17
ZA - Sudafrica 17
CZ - Repubblica Ceca 14
CO - Colombia 12
TN - Tunisia 12
ID - Indonesia 11
MA - Marocco 10
PK - Pakistan 8
SA - Arabia Saudita 8
VE - Venezuela 8
CL - Cile 7
PE - Perù 7
PH - Filippine 7
UZ - Uzbekistan 7
JO - Giordania 6
KZ - Kazakistan 6
PY - Paraguay 6
DZ - Algeria 5
JM - Giamaica 5
KE - Kenya 5
KR - Corea 5
LT - Lituania 5
AE - Emirati Arabi Uniti 4
MY - Malesia 4
TW - Taiwan 4
EG - Egitto 3
NI - Nicaragua 3
NO - Norvegia 3
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
CR - Costa Rica 2
CY - Cipro 2
ET - Etiopia 2
GT - Guatemala 2
IL - Israele 2
MD - Moldavia 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
BO - Bolivia 1
CH - Svizzera 1
CI - Costa d'Avorio 1
DO - Repubblica Dominicana 1
EE - Estonia 1
GD - Grenada 1
GR - Grecia 1
HN - Honduras 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
PR - Porto Rico 1
SI - Slovenia 1
SV - El Salvador 1
Totale 17.074
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Città #
Jacksonville 1.090
Dublin 950
Singapore 850
Chandler 844
San Jose 714
Dallas 698
Hong Kong 542
Ashburn 422
Santa Clara 377
Boardman 305
Council Bluffs 277
The Dalles 263
Nanjing 238
Izmir 235
Munich 219
New York 217
Lawrence 155
Princeton 155
Moscow 130
Ho Chi Minh City 128
Wilmington 126
L’Aquila 125
San Mateo 120
Helsinki 112
Lauterbourg 109
Beijing 104
Bremen 94
Hanoi 80
Milan 65
Ann Arbor 63
Los Angeles 61
Woodbridge 59
L'aquila 58
Nanchang 56
Columbus 50
São Paulo 46
Verona 36
Hebei 34
Mumbai 34
Shenyang 30
Dearborn 28
Kunming 28
Mountain View 28
Rome 26
Frankfurt am Main 25
Orem 24
Tianjin 24
Warsaw 24
Jiaxing 22
Shanghai 22
Brussels 20
Denver 19
Tokyo 18
Turku 18
Montreal 17
Da Nang 16
Falls Church 16
Hefei 16
Atlanta 15
Brooklyn 15
Lanzhou 15
Stockholm 15
Changsha 14
Des Moines 14
Lappeenranta 14
Norwalk 14
Belo Horizonte 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
San Francisco 10
Ankara 9
Hải Dương 9
Johannesburg 9
Mexico City 9
Poplar 9
Toronto 9
Berlin 8
Brasília 8
City of London 8
Nuremberg 8
Perugia 8
Seattle 8
Biên Hòa 7
Buenos Aires 7
Houston 7
Ottawa 7
Tashkent 7
Amman 6
Charlotte 6
Totale 11.091
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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 302
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features 289
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 161
Formation of new chromatin domains determines pathogenicity of genomic duplications 151
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 139
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome 137
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants 130
RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis 126
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 125
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. 120
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. 120
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 120
A novel family with an unusual early onset generalized dystonia. 119
Assessment of the retinal posterior pole in dominant optic atrophy by spectral-domain optical coherence tomography and microperimetry 118
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female 116
Joubert Syndrome and related disorders. 115
KBG syndrome in a cohort of Italian patients. 113
Brugada Syndrome in Sports Cardiology: An Expert Opinion Statement of the Italian Society of Sports Cardiology (SICSport) 112
A single strand conformation polymorphism-based carrier test for spinal muscular atrophy. 111
Occurrence of multiple melanomas in a patient with punctate palmoplantar keratoderma type-1A associated to alpha and gamma adaptin binding protein 110
Reticulate vascular lesions and a large head. 110
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 110
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. 110
Diffusion tensor imaging in Joubert syndrome 110
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome 109
Membranous Nectin-4 expression is a risk factor for distant relapse of T1-T2, N0 luminal-A early breast cancer 109
Correction to: Left Ventricular Non-Compaction, Atrial Fibrillation and ANK2 Mutation in a Young Athlete 108
Cardiological Manifestations in Males and Females Affected by NAA10‐Related Disease 108
Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women. 108
Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome 108
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
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 107
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. 107
Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1 106
BRCA genetic result disclosure for women with Breast Cancer: influence of +/- predisposition genetic mutation 105
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. 105
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. 104
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. 104
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. 104
Measles skin rash: Infection of lymphoid and myeloid cells in the dermis precedes viral dissemination to the epidermis 104
First and second branchial arch involvement in mandibulofacial dysostosis Guion-Almeida type 103
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin 103
A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay 103
A family study on primary blepharospasm. 102
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. 102
Perceived cancer risk and genetic counseling: A biopsychological perspective 101
The Birt-Hogg-Dubé Syndrome: A Clinical Diagnostic Challenge 101
KBG syndrome 101
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome. 101
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View 101
H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome 101
Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome 100
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement 100
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders 100
Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene 100
Ablepharon-macrostomia syndrome in a 46-year-old woman. 99
Mutations in PYCR1 cause cutis laxa with progeroid features. 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
Genotypes and phenotypes of Joubert syndrome and related disorders 99
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 99
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy 99
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 99
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). 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
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. 97
p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis 97
A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial PartialLipodystrophy 97
An explainable model of host genetic interactions linked to COVID-19 severity 97
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. 96
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 96
PARK6-linked parkinsonism occurs in several European families. 95
Putaminal, but not nigral alterations, characterize hemiparkinsonism-hemiatrophy syndrome: a case report. 95
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 95
De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver 95
Delineation of MidXq28-Duplication Syndrome Distal to MECP2 and Proximal to RAB39B genes 95
Improving diagnosis for rare diseases: The experience of the Italian undiagnosed Rare diseases network 95
Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus. 95
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome 94
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. 94
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. 94
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes 94
Normal cognitive functions in joubert syndrome. 94
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 94
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. 94
The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants 93
Cerebellar Disorders in Children. 2012 eds. Chapter11: Joubert Syndrome and Related Disorders. Mac Keith Press. 93
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. 93
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy 93
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions 93
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 92
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 92
PARK6 is a common cause of familial parkinsonism. 92
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. 92
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1 92
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. 91
Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome 91
Totale 10.878
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Categoria #
all - tutte 73.768
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 73.768
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021111 0 0 0 0 0 0 0 0 0 0 0 111
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
2025/20265.651 210 567 532 665 460 369 1.008 246 506 591 414 83
Totale 17.283