IRIS
BRANCATI, Francesco
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 3.942
AS - Asia 3.047
EU - Europa 2.751
SA - Sud America 556
AF - Africa 39
Continente sconosciuto - Info sul continente non disponibili 12
OC - Oceania 5
Totale 10.352
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 3.859
SG - Singapore 1.077
CN - Cina 878
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
IT - Italia 174
FR - Francia 165
FI - Finlandia 118
HK - Hong Kong 112
BD - Bangladesh 65
IN - India 61
AR - Argentina 34
AT - Austria 32
CA - Canada 30
MX - Messico 28
NL - Olanda 23
ID - Indonesia 22
IQ - Iraq 22
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
AU - Australia 5
JM - Giamaica 5
KE - Kenya 5
AE - Emirati Arabi Uniti 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
HN - Honduras 2
JO - Giordania 2
KZ - Kazakistan 2
LB - Libano 2
LT - Lituania 2
MY - Malesia 2
NG - Nigeria 2
NI - Nicaragua 2
PA - Panama 2
PR - Porto Rico 2
RO - Romania 2
BA - Bosnia-Erzegovina 1
BG - Bulgaria 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BO - Bolivia 1
BT - Bhutan 1
CH - Svizzera 1
CI - Costa d'Avorio 1
CR - Costa Rica 1
CZ - Repubblica Ceca 1
EE - Estonia 1
ET - Etiopia 1
GP - Guadalupe 1
GT - Guatemala 1
KG - Kirghizistan 1
OM - Oman 1
PH - Filippine 1
QA - Qatar 1
SN - Senegal 1
SV - El Salvador 1
TN - Tunisia 1
TT - Trinidad e Tobago 1
Totale 10.352
Salva come PNG Salva come JPEG
Città #
Singapore 735
Jacksonville 690
Dublin 439
San Jose 431
Chandler 399
Princeton 273
Southend 220
Beijing 212
Dallas 211
Izmir 199
Ashburn 194
Nanjing 182
Ho Chi Minh City 143
Wilmington 117
Cambridge 115
Hong Kong 107
Los Angeles 88
Tongling 85
The Dalles 83
Hanoi 76
Council Bluffs 73
Dearborn 67
Nanchang 67
Santa Clara 66
Ann Arbor 63
Altamura 60
Buffalo 55
São Paulo 47
Boardman 42
New York 36
Moscow 33
Hebei 31
Kunming 30
Tianjin 30
Shenyang 25
Vienna 25
Redondo Beach 22
Chicago 21
Rio de Janeiro 21
Hangzhou 20
Da Nang 19
Seoul 19
Woodbridge 19
Houston 18
Jiaxing 17
Orem 17
Warsaw 17
Brooklyn 16
Changsha 14
London 14
Montreal 14
Chennai 13
Phoenix 13
Rome 13
Atlanta 11
Grevenbroich 11
Mexico City 11
Nuremberg 11
Tokyo 11
Baghdad 10
Belo Horizonte 10
Haiphong 10
Poplar 10
Chieti 9
Hải Dương 9
Johannesburg 9
Manchester 9
Milan 9
Norwalk 9
Turin 9
Waanrode 9
Brussels 8
Falls Church 8
Lanzhou 8
Orange 8
Quito 8
Curitiba 7
Frankfurt am Main 7
Guayaquil 7
Washington 7
Amsterdam 6
Brasília 6
Bắc Ninh 6
Campinas 6
Mumbai 6
Salvador 6
Seattle 6
Auburn Hills 5
Betim 5
Biên Hòa 5
Boston 5
Manaus 5
Memphis 5
Ningbo 5
Stockholm 5
Asunción 4
Bogotá 4
Can Tho 4
Cape Town 4
Casablanca 4
Totale 6.393
Salva come PNG Salva come JPEG
Nome #
Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome 160
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. 150
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. 145
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy 138
A single strand conformation polymorphism-based carrier test for spinal muscular atrophy. 137
A family study on primary blepharospasm. 135
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). 134
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. 128
Ablepharon-macrostomia syndrome in a 46-year-old woman. 127
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 124
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. 123
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 123
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 121
Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women. 120
A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial PartialLipodystrophy 120
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. 118
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. 116
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. 115
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
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. 112
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 110
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. 109
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. 107
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene 106
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female 105
A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders. 104
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. 103
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders 103
Clinical and laboratory phenotype associated with the aspirin-like defect. 102
Diffusion tensor imaging in Joubert syndrome 101
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 100
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome. 99
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. 99
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation 98
Primary hypothyroidism and osteopenia associated with Neuhauser syndrome. 96
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 96
Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus. 96
De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver 96
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement 94
Recurrent triploidy of maternal origin. 93
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 93
Joubert Syndrome and related disorders. 92
Quantitative ultrasound at the phalanges in a cohort of monozygotic twins of different ages 92
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. 91
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome 91
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes 91
PARK6-linked parkinsonism occurs in several European families. 90
Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis. 90
Membranous Nectin-4 expression is a risk factor for distant relapse of T1-T2, N0 luminal-A early breast cancer 90
Reticulate vascular lesions and a large head. 89
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 89
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin 89
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. 89
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development 88
Hypochondrogenesis. 87
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 87
KBG syndrome 87
Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum. 87
Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy. 86
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. 85
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. 85
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 85
Mutations in PYCR1 cause cutis laxa with progeroid features. 84
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. 84
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. 83
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. 83
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 83
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. 83
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum 82
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. 82
Normal cognitive functions in joubert syndrome. 82
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. 82
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations 82
KBG syndrome in a cohort of Italian patients. 80
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. 80
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 78
Mutations of IRF6 Gene Associated with Van Der Woude Syndrome 78
p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis 78
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson’s disease gene rearrangements 78
The syndrome of deafness-dystonia: clinical and genetic heterogeneity. 77
Putaminal, but not nigral alterations, characterize hemiparkinsonism-hemiatrophy syndrome: a case report. 76
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. 76
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. 75
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders. 75
Nectinopathies: an emerging group of ectodermal dysplasia syndromes. 75
Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome. 74
Cerebellar Disorders in Children. 2012 eds. Chapter11: Joubert Syndrome and Related Disorders. Mac Keith Press. 74
Expanding CEP290 mutational spectrum in ciliopathies. 73
Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin 73
Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome 73
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1 73
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 72
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 72
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. 72
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. 72
Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies. 71
Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases 71
Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome 71
Totale 9.528
Salva come PNG Salva come JPEG
Categoria #
all - tutte 43.604
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 43.604
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20218 0 0 0 0 0 0 0 0 0 0 0 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
2025/20263.615 221 254 496 626 249 190 443 162 426 268 213 67
Totale 10.462