IRIS
BRANCATI, Francesco
 Distribuzione geografica
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Continente #
NA - Nord America 3.693
AS - Asia 2.975
EU - Europa 2.726
SA - Sud America 556
AF - Africa 39
Continente sconosciuto - Info sul continente non disponibili 12
OC - Oceania 4
Totale 10.005
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Nazione #
US - Stati Uniti d'America 3.630
SG - Singapore 1.057
CN - Cina 872
UA - Ucraina 600
BR - Brasile 460
IE - Irlanda 441
RU - Federazione Russa 393
TR - Turchia 372
VN - Vietnam 350
GB - Regno Unito 302
SE - Svezia 275
DE - Germania 174
FR - Francia 165
IT - Italia 151
FI - Finlandia 118
HK - Hong Kong 108
IN - India 61
AR - Argentina 34
AT - Austria 32
MX - Messico 27
BD - Bangladesh 23
ID - Indonesia 22
IQ - Iraq 22
NL - Olanda 22
CA - Canada 21
EC - Ecuador 20
KR - Corea 19
BE - Belgio 17
PL - Polonia 17
ZA - Sudafrica 15
CO - Colombia 14
PK - Pakistan 13
EU - Europa 12
JP - Giappone 11
SA - Arabia Saudita 8
VE - Venezuela 8
DO - Repubblica Dominicana 7
ES - Italia 7
MA - Marocco 7
PY - Paraguay 7
IL - Israele 6
KE - Kenya 5
AE - Emirati Arabi Uniti 4
AU - Australia 4
GR - Grecia 4
PE - Perù 4
UY - Uruguay 4
UZ - Uzbekistan 4
DZ - Algeria 3
EG - Egitto 3
IR - Iran 3
NP - Nepal 3
CL - Cile 2
GE - Georgia 2
GY - Guiana 2
JO - Giordania 2
KZ - Kazakistan 2
LB - Libano 2
LT - Lituania 2
MY - Malesia 2
NG - Nigeria 2
PA - Panama 2
RO - Romania 2
BA - Bosnia-Erzegovina 1
BG - Bulgaria 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BO - Bolivia 1
BT - Bhutan 1
CI - Costa d'Avorio 1
CZ - Repubblica Ceca 1
EE - Estonia 1
ET - Etiopia 1
GT - Guatemala 1
HN - Honduras 1
KG - Kirghizistan 1
NI - Nicaragua 1
OM - Oman 1
PH - Filippine 1
PR - Porto Rico 1
QA - Qatar 1
SN - Senegal 1
SV - El Salvador 1
TN - Tunisia 1
TT - Trinidad e Tobago 1
Totale 10.005
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Città #
Singapore 731
Jacksonville 690
Dublin 439
Chandler 399
San Jose 371
Princeton 273
Southend 220
Beijing 209
Dallas 206
Izmir 199
Nanjing 182
Ashburn 181
Ho Chi Minh City 143
Wilmington 117
Cambridge 115
Hong Kong 103
Tongling 85
The Dalles 83
Los Angeles 82
Hanoi 76
Dearborn 67
Nanchang 67
Santa Clara 64
Ann Arbor 63
Altamura 60
Buffalo 52
São Paulo 47
Boardman 42
Moscow 33
Hebei 31
Kunming 30
Tianjin 29
New York 27
Shenyang 25
Vienna 25
Redondo Beach 22
Rio de Janeiro 21
Hangzhou 20
Da Nang 19
Seoul 19
Woodbridge 19
Chicago 18
Jiaxing 17
Orem 17
Warsaw 17
Brooklyn 15
Houston 15
Changsha 14
Chennai 13
London 13
Rome 13
Montreal 12
Phoenix 12
Grevenbroich 11
Nuremberg 11
Tokyo 11
Baghdad 10
Belo Horizonte 10
Haiphong 10
Mexico City 10
Poplar 10
Atlanta 9
Chieti 9
Hải Dương 9
Johannesburg 9
Manchester 9
Norwalk 9
Waanrode 9
Brussels 8
Falls Church 8
Lanzhou 8
Orange 8
Quito 8
Curitiba 7
Frankfurt am Main 7
Guayaquil 7
Amsterdam 6
Brasília 6
Bắc Ninh 6
Campinas 6
Milan 6
Mumbai 6
Salvador 6
Seattle 6
Turin 6
Washington 6
Auburn Hills 5
Betim 5
Biên Hòa 5
Boston 5
Manaus 5
Ningbo 5
Stockholm 5
Asunción 4
Bogotá 4
Can Tho 4
Cape Town 4
Casablanca 4
City of London 4
Denver 4
Totale 6.192
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Nome #
Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome 158
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. 145
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. 140
A family study on primary blepharospasm. 134
A single strand conformation polymorphism-based carrier test for spinal muscular atrophy. 133
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy 131
Ablepharon-macrostomia syndrome in a 46-year-old woman. 126
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 124
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. 123
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 118
Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women. 117
A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial PartialLipodystrophy 117
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. 115
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. 115
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. 113
Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome 113
A novel family with an unusual early onset generalized dystonia. 112
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 112
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). 111
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. 111
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. 110
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. 110
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome 108
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. 106
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene 105
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female 104
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders 102
Clinical and laboratory phenotype associated with the aspirin-like defect. 101
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. 100
A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders. 99
Diffusion tensor imaging in Joubert syndrome 98
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. 97
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 96
Primary hypothyroidism and osteopenia associated with Neuhauser syndrome. 95
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 93
De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver 93
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome. 92
Recurrent triploidy of maternal origin. 92
Quantitative ultrasound at the phalanges in a cohort of monozygotic twins of different ages 92
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome 91
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. 90
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement 90
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes 90
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation 89
PARK6-linked parkinsonism occurs in several European families. 88
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 88
Reticulate vascular lesions and a large head. 87
Hypochondrogenesis. 87
KBG syndrome 87
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin 87
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. 87
Membranous Nectin-4 expression is a risk factor for distant relapse of T1-T2, N0 luminal-A early breast cancer 87
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 86
Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum. 86
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development 85
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. 84
Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy. 84
Joubert Syndrome and related disorders. 84
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. 83
Mutations in PYCR1 cause cutis laxa with progeroid features. 83
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 83
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. 83
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. 82
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. 82
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. 82
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 81
Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus. 81
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum 80
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. 80
Normal cognitive functions in joubert syndrome. 79
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations 79
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. 78
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 78
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 78
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. 78
Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis. 78
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson’s disease gene rearrangements 78
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. 77
p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis 77
KBG syndrome in a cohort of Italian patients. 75
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. 75
Mutations of IRF6 Gene Associated with Van Der Woude Syndrome 75
Putaminal, but not nigral alterations, characterize hemiparkinsonism-hemiatrophy syndrome: a case report. 74
Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome. 74
The syndrome of deafness-dystonia: clinical and genetic heterogeneity. 74
Nectinopathies: an emerging group of ectodermal dysplasia syndromes. 73
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 72
Expanding CEP290 mutational spectrum in ciliopathies. 72
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders. 72
Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome 72
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1 72
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 71
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. 71
Cerebellar Disorders in Children. 2012 eds. Chapter11: Joubert Syndrome and Related Disorders. Mac Keith Press. 71
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. 70
Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome 70
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. 69
Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin 69
Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases 67
Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies. 66
Totale 9.202
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Categoria #
all - tutte 40.223
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 40.223
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021100 0 0 0 0 0 0 0 0 0 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
2025/20263.268 221 254 496 626 249 190 443 162 426 201 0 0
Totale 10.115