IRIS
BRANCATI, Francesco
 Distribuzione geografica
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Continente #
NA - Nord America 2.547
EU - Europa 2.318
AS - Asia 1.783
SA - Sud America 177
AF - Africa 14
Continente sconosciuto - Info sul continente non disponibili 12
OC - Oceania 4
Totale 6.855
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Nazione #
US - Stati Uniti d'America 2.532
CN - Cina 648
SG - Singapore 631
UA - Ucraina 594
IE - Irlanda 441
TR - Turchia 365
SE - Svezia 270
GB - Regno Unito 266
DE - Germania 167
FR - Francia 162
BR - Brasile 161
IT - Italia 135
FI - Finlandia 118
RU - Federazione Russa 92
HK - Hong Kong 62
IN - India 32
AT - Austria 29
BE - Belgio 17
NL - Olanda 15
EU - Europa 12
VN - Vietnam 8
BD - Bangladesh 7
MX - Messico 7
PK - Pakistan 6
CA - Canada 5
IL - Israele 5
VE - Venezuela 5
ZA - Sudafrica 5
AR - Argentina 4
AU - Australia 4
GR - Grecia 4
IQ - Iraq 4
PL - Polonia 4
AE - Emirati Arabi Uniti 3
CO - Colombia 3
KE - Kenya 3
MA - Marocco 3
EC - Ecuador 2
JP - Giappone 2
NG - Nigeria 2
NP - Nepal 2
SA - Arabia Saudita 2
UZ - Uzbekistan 2
BA - Bosnia-Erzegovina 1
EE - Estonia 1
EG - Egitto 1
ES - Italia 1
GE - Georgia 1
GY - Guiana 1
HN - Honduras 1
IR - Iran 1
KG - Kirghizistan 1
NI - Nicaragua 1
QA - Qatar 1
RO - Romania 1
SV - El Salvador 1
UY - Uruguay 1
Totale 6.855
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Città #
Jacksonville 690
Dublin 439
Singapore 431
Chandler 399
Princeton 273
Southend 220
Izmir 199
Nanjing 182
Wilmington 117
Cambridge 115
Beijing 101
Tongling 85
The Dalles 83
Dearborn 67
Nanchang 66
Ann Arbor 63
Hong Kong 62
Altamura 60
Santa Clara 50
Boardman 42
Hebei 31
Kunming 30
Tianjin 29
Ashburn 28
Shenyang 25
Vienna 24
Hangzhou 19
Woodbridge 19
Jiaxing 17
Changsha 14
São Paulo 14
Rio de Janeiro 13
Los Angeles 12
Chicago 11
Grevenbroich 11
Houston 11
Nuremberg 11
Rome 10
Chieti 9
Norwalk 9
Waanrode 9
Brussels 8
Falls Church 8
Lanzhou 8
Orange 8
Brooklyn 6
Washington 6
Auburn Hills 5
London 5
Milan 5
Ningbo 5
Seattle 5
Belo Horizonte 4
Helsinki 4
Mexico City 4
San Francisco 4
Tappahannock 4
Warsaw 4
Casablanca 3
Ho Chi Minh City 3
Jinan 3
New York 3
Ribeirão Preto 3
Romola 3
Turin 3
Uberlândia 3
Alagoinhas 2
Atlanta 2
Cape Town 2
Caracas 2
Catalão 2
Dhaka 2
Diadema 2
Dong Ket 2
Dubai 2
Erbil 2
Florence 2
Franca 2
Goiânia 2
Grafing 2
Guangzhou 2
Hanoi 2
Hefei 2
Istanbul 2
Itapetinga 2
Johannesburg 2
Karachi 2
Lagos 2
Lissone 2
Londrina 2
Maringá 2
Montreal 2
Moscow 2
Nairobi 2
Notaresco 2
Phoenix 2
Porto Alegre 2
Pradamano 2
Quzhou 2
Secaucus 2
Totale 4.285
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Nome #
Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome 122
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. 102
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy 100
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. 97
A family study on primary blepharospasm. 93
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome 91
Ablepharon-macrostomia syndrome in a 46-year-old woman. 87
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. 85
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. 84
A single strand conformation polymorphism-based carrier test for spinal muscular atrophy. 84
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). 83
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. 83
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. 82
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. 82
A novel family with an unusual early onset generalized dystonia. 80
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. 80
Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women. 80
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 80
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female 80
Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome 75
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 74
Diffusion tensor imaging in Joubert syndrome 74
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene 74
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. 73
Primary hypothyroidism and osteopenia associated with Neuhauser syndrome. 72
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. 71
Recurrent triploidy of maternal origin. 70
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 70
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 70
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. 69
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement 69
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes 69
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. 69
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. 68
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. 68
PARK6-linked parkinsonism occurs in several European families. 68
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 68
A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial PartialLipodystrophy 68
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders 68
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. 67
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. 67
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome 67
Reticulate vascular lesions and a large head. 66
Hypochondrogenesis. 66
Clinical and laboratory phenotype associated with the aspirin-like defect. 66
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 64
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 63
KBG syndrome 63
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. 63
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations 63
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum 62
A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders. 62
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome. 61
KBG syndrome in a cohort of Italian patients. 61
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. 61
Mutations of IRF6 Gene Associated with Van Der Woude Syndrome 61
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 60
Mutations in PYCR1 cause cutis laxa with progeroid features. 60
De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver 60
Quantitative ultrasound at the phalanges in a cohort of monozygotic twins of different ages 60
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. 59
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development 59
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin 58
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation 58
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders. 56
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson’s disease gene rearrangements 56
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 54
Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum. 54
Nectinopathies: an emerging group of ectodermal dysplasia syndromes. 54
The syndrome of deafness-dystonia: clinical and genetic heterogeneity. 54
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. 54
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. 53
Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy. 53
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 53
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 52
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. 52
Membranous Nectin-4 expression is a risk factor for distant relapse of T1-T2, N0 luminal-A early breast cancer 52
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 50
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. 50
Genotypes and phenotypes of Joubert syndrome and related disorders 49
Primary focal hyperhidrosis in a new family not linked to known Loci. 49
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 49
Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis. 48
Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies. 46
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. 45
Joubert Syndrome and related disorders. 45
Normal cognitive functions in joubert syndrome. 45
Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome. 45
Clinical utility gene card for: Joubert syndrome 45
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes 45
Mutations in the NHEJ component XRCC4 cause primordial dwarfism 45
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. 44
Cerebellar Disorders in Children. 2012 eds. Chapter11: Joubert Syndrome and Related Disorders. Mac Keith Press. 44
Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome 44
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. 43
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions 43
p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis 43
Expanding CEP290 mutational spectrum in ciliopathies. 42
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. 42
Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases 42
Totale 6.379
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Categoria #
all - tutte 32.286
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 32.286
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021530 118 0 121 8 50 123 4 1 5 89 3 8
2021/2022458 6 2 2 92 40 10 8 33 47 11 41 166
2022/20231.204 124 125 46 143 121 264 95 92 141 6 26 21
2023/2024400 41 15 21 14 13 121 119 13 7 4 2 30
2024/20251.393 141 174 148 16 11 12 30 97 143 124 147 350
2025/2026118 118 0 0 0 0 0 0 0 0 0 0 0
Totale 6.965