IRIS
BRANCATI, FRANCESCO
 Distribuzione geografica
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Continente #
NA - Nord America 4.491
EU - Europa 4.226
AS - Asia 2.172
SA - Sud America 217
AF - Africa 16
OC - Oceania 1
Totale 11.123
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Nazione #
US - Stati Uniti d'America 4.482
SE - Svezia 1.205
IE - Irlanda 952
SG - Singapore 709
CN - Cina 634
DE - Germania 607
HK - Hong Kong 495
RU - Federazione Russa 362
IT - Italia 356
UA - Ucraina 271
TR - Turchia 256
BR - Brasile 199
GB - Regno Unito 186
FI - Finlandia 134
FR - Francia 82
IN - India 35
BE - Belgio 19
CZ - Repubblica Ceca 13
NL - Olanda 11
VN - Vietnam 10
AT - Austria 8
CA - Canada 7
EC - Ecuador 7
IQ - Iraq 7
ZA - Sudafrica 6
AR - Argentina 4
CO - Colombia 4
ES - Italia 4
PL - Polonia 4
TN - Tunisia 4
BD - Bangladesh 3
KZ - Kazakistan 3
PK - Pakistan 3
DZ - Algeria 2
LT - Lituania 2
MA - Marocco 2
MD - Moldavia 2
MY - Malesia 2
RS - Serbia 2
TW - Taiwan 2
UZ - Uzbekistan 2
VE - Venezuela 2
AL - Albania 1
AU - Australia 1
AZ - Azerbaigian 1
BA - Bosnia-Erzegovina 1
BN - Brunei Darussalam 1
CI - Costa d'Avorio 1
EE - Estonia 1
ID - Indonesia 1
IL - Israele 1
JO - Giordania 1
JP - Giappone 1
KE - Kenya 1
KR - Corea 1
LB - Libano 1
NI - Nicaragua 1
NP - Nepal 1
OM - Oman 1
PA - Panama 1
PH - Filippine 1
PT - Portogallo 1
PY - Paraguay 1
RO - Romania 1
VA - Santa Sede (Città del Vaticano) 1
Totale 11.123
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Città #
Jacksonville 1.088
Dublin 944
Chandler 844
Hong Kong 493
Santa Clara 342
Boardman 305
Singapore 285
Nanjing 237
Izmir 235
Munich 190
New York 166
Lawrence 155
Princeton 155
Wilmington 126
L’Aquila 121
San Mateo 120
Helsinki 111
Bremen 94
Ashburn 83
Ann Arbor 63
Moscow 60
L'aquila 58
Woodbridge 58
Nanchang 56
Milan 55
Beijing 53
Verona 36
Hebei 34
Shenyang 30
Dearborn 28
Kunming 28
Mountain View 28
Mumbai 28
Los Angeles 25
Tianjin 24
Jiaxing 22
Shanghai 21
Brussels 19
Rome 18
Falls Church 16
Lanzhou 15
Changsha 14
Norwalk 14
São Paulo 13
Council Bluffs 12
The Dalles 12
Des Moines 11
Brno 10
Changchun 10
Dong Ket 10
Dallas 9
Berlin 8
Belo Horizonte 7
Lappeenranta 7
Seattle 6
Vienna 6
Chengdu 5
Frankfurt am Main 5
Gavirate 5
Ottawa 5
Redwood City 5
Amsterdam 4
Auburn Hills 4
Baghdad 4
Cambridge 4
Cedar Knolls 4
Curitiba 4
Düsseldorf 4
Frugarolo 4
Guangzhou 4
Guayaquil 4
Hefei 4
Jinan 4
Jyväskylä 4
Nürnberg 4
Pune 4
Rio de Janeiro 4
Tappahannock 4
Uberlândia 4
Casapulla 3
Chongqing 3
Edinburgh 3
Falkenstein 3
Fortaleza 3
Francavilla al Mare 3
Manoppello 3
Maringá 3
Nanterre 3
Pescara 3
Recife 3
Turku 3
Volta Redonda 3
Anápolis 2
Arco 2
Basiglio 2
Belgrade 2
Botucatu 2
Bydgoszcz 2
Cape Town 2
Catanzaro 2
Totale 7.170
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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 180
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features 162
A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype 133
Formation of new chromatin domains determines pathogenicity of genomic duplications 127
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 108
A novel family with an unusual early onset generalized dystonia. 102
Reticulate vascular lesions and a large head. 96
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 94
A single strand conformation polymorphism-based carrier test for spinal muscular atrophy. 92
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 90
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants 90
Genotypes and phenotypes of Joubert syndrome and related disorders 88
Assessment of the retinal posterior pole in dominant optic atrophy by spectral-domain optical coherence tomography and microperimetry 88
Joubert Syndrome and related disorders. 87
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. 87
Membranous Nectin-4 expression is a risk factor for distant relapse of T1-T2, N0 luminal-A early breast cancer 87
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. 87
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders 86
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 85
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 84
Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1 83
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. 83
KBG syndrome in a cohort of Italian patients. 83
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female 81
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. 80
Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome 80
PARK6-linked parkinsonism occurs in several European families. 79
Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women. 79
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. 79
A family study on primary blepharospasm. 78
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. 78
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. 78
Ablepharon-macrostomia syndrome in a 46-year-old woman. 77
Diffusion tensor imaging in Joubert syndrome 77
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome 76
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations 76
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 76
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. 76
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes 75
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. 74
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome. 74
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. 74
Cerebellar Disorders in Children. 2012 eds. Chapter11: Joubert Syndrome and Related Disorders. Mac Keith Press. 74
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. 74
Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome 74
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 74
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. 74
A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial PartialLipodystrophy 74
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. 73
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin 73
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. 73
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). 73
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 73
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View 73
Normal cognitive functions in joubert syndrome. 72
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. 72
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. 72
Delineation of MidXq28-Duplication Syndrome Distal to MECP2 and Proximal to RAB39B genes 71
Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum. 71
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 71
Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus. 71
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome 70
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson’s disease gene rearrangements 70
Clinical and laboratory phenotype associated with the aspirin-like defect. 70
Mutations in PYCR1 cause cutis laxa with progeroid features. 70
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement 70
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1 70
Putaminal, but not nigral alterations, characterize hemiparkinsonism-hemiatrophy syndrome: a case report. 69
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. 69
Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome 69
Primary hypertrophic osteoarthropathy: a new family supporting genetic heterogeneity. 69
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. 69
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum 69
Recurrent triploidy of maternal origin. 69
Clinical utility gene card for: Joubert syndrome 69
Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy. 69
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. 68
Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies. 68
Nectinopathies: an emerging group of ectodermal dysplasia syndromes. 68
Mutation screening of the DYT6/THAP1 gene in Italy. 68
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions 68
Primary hypothyroidism and osteopenia associated with Neuhauser syndrome. 67
p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis 67
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain 67
De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver 67
Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis. 67
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 67
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 67
Improving diagnosis for rare diseases: The experience of the Italian undiagnosed Rare diseases network 67
Hypochondrogenesis. 66
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 66
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. 66
PARK6 is a common cause of familial parkinsonism. 66
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders. 65
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. 65
KBG syndrome 65
Quantitative ultrasound at the phalanges in a cohort of monozygotic twins of different ages 65
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 65
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. 65
Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin 64
Totale 7.786
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Categoria #
all - tutte 50.703
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 50.703
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020139 0 0 0 0 0 0 0 0 0 0 3 136
2020/20211.352 14 138 0 155 146 103 153 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
2024/20253.017 43 37 389 94 335 402 508 318 654 204 33 0
Totale 11.316