IRIS
BRANCATI, Francesco
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 3.140
AS - Asia 2.537
EU - Europa 2.389
SA - Sud America 519
AF - Africa 33
Continente sconosciuto - Info sul continente non disponibili 12
OC - Oceania 4
Totale 8.634
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 3.089
SG - Singapore 911
CN - Cina 821
UA - Ucraina 598
IE - Irlanda 441
BR - Brasile 434
TR - Turchia 368
GB - Regno Unito 287
SE - Svezia 275
VN - Vietnam 206
DE - Germania 168
FR - Francia 162
IT - Italia 145
FI - Finlandia 118
RU - Federazione Russa 97
HK - Hong Kong 77
IN - India 43
AR - Argentina 32
AT - Austria 31
MX - Messico 22
EC - Ecuador 19
ID - Indonesia 19
KR - Corea 19
CA - Canada 18
NL - Olanda 18
BE - Belgio 17
PL - Polonia 16
BD - Bangladesh 15
ZA - Sudafrica 14
CO - Colombia 12
EU - Europa 12
IQ - Iraq 12
PK - Pakistan 9
DO - Repubblica Dominicana 6
IL - Israele 6
MA - Marocco 6
VE - Venezuela 6
ES - Italia 5
JP - Giappone 5
PY - Paraguay 5
AE - Emirati Arabi Uniti 4
AU - Australia 4
GR - Grecia 4
PE - Perù 4
UY - Uruguay 4
DZ - Algeria 3
IR - Iran 3
KE - Kenya 3
NP - Nepal 3
SA - Arabia Saudita 3
EG - Egitto 2
GE - Georgia 2
KZ - Kazakistan 2
LB - Libano 2
LT - Lituania 2
NG - Nigeria 2
UZ - Uzbekistan 2
BA - Bosnia-Erzegovina 1
BG - Bulgaria 1
BH - Bahrain 1
BO - Bolivia 1
CI - Costa d'Avorio 1
CL - Cile 1
CZ - Repubblica Ceca 1
EE - Estonia 1
GY - Guiana 1
HN - Honduras 1
JO - Giordania 1
KG - Kirghizistan 1
NI - Nicaragua 1
OM - Oman 1
PA - Panama 1
PR - Porto Rico 1
QA - Qatar 1
RO - Romania 1
SN - Senegal 1
SV - El Salvador 1
TN - Tunisia 1
Totale 8.634
Salva come PNG Salva come JPEG
Città #
Jacksonville 690
Singapore 611
Dublin 439
Chandler 399
Princeton 273
Southend 220
Beijing 208
Dallas 206
Izmir 199
Nanjing 182
Wilmington 117
Cambridge 115
Ashburn 98
Ho Chi Minh City 92
Tongling 85
The Dalles 83
Hong Kong 77
Los Angeles 76
Dearborn 67
Nanchang 66
Ann Arbor 63
Altamura 60
Santa Clara 59
Buffalo 52
Boardman 42
São Paulo 42
Hanoi 38
Hebei 31
Kunming 30
Tianjin 29
Shenyang 25
Vienna 24
New York 23
Redondo Beach 22
Rio de Janeiro 21
Hangzhou 19
Seoul 19
Woodbridge 19
Jiaxing 17
Warsaw 16
Brooklyn 15
Chicago 15
Changsha 14
Houston 14
Grevenbroich 11
Nuremberg 11
Rome 11
Montreal 10
Phoenix 10
Belo Horizonte 9
Chieti 9
Da Nang 9
London 9
Norwalk 9
Poplar 9
Waanrode 9
Brussels 8
Falls Church 8
Hải Dương 8
Johannesburg 8
Lanzhou 8
Orange 8
Quito 8
Atlanta 7
Mexico City 7
Brasília 6
Campinas 6
Guayaquil 6
Milan 6
Salvador 6
Turin 6
Washington 6
Auburn Hills 5
Betim 5
Boston 5
Chennai 5
Curitiba 5
Manaus 5
Manchester 5
Ningbo 5
Orem 5
Seattle 5
Stockholm 5
Tokyo 5
Baghdad 4
Bắc Ninh 4
Cape Town 4
Casablanca 4
Denver 4
Guarulhos 4
Hefei 4
Helsinki 4
Lima 4
Marabá 4
Poços de Caldas 4
Ribeirão Preto 4
San Francisco 4
Tappahannock 4
Amsterdam 3
Ankara 3
Totale 5.362
Salva come PNG Salva come JPEG
Nome #
Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome 142
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. 123
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy 120
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. 119
A family study on primary blepharospasm. 112
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. 110
A single strand conformation polymorphism-based carrier test for spinal muscular atrophy. 108
Ablepharon-macrostomia syndrome in a 46-year-old woman. 107
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. 102
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 101
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. 100
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome 100
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. 97
Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women. 97
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. 96
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. 96
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). 95
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 95
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. 94
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 93
A novel family with an unusual early onset generalized dystonia. 92
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. 92
Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome 92
A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial PartialLipodystrophy 92
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female 91
Clinical and laboratory phenotype associated with the aspirin-like defect. 88
Diffusion tensor imaging in Joubert syndrome 86
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders 86
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene 85
Primary hypothyroidism and osteopenia associated with Neuhauser syndrome. 84
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. 84
A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders. 83
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. 82
De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver 82
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation 82
Quantitative ultrasound at the phalanges in a cohort of monozygotic twins of different ages 82
Recurrent triploidy of maternal origin. 81
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 80
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes 80
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 80
PARK6-linked parkinsonism occurs in several European families. 79
Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy. 79
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 78
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. 78
Hypochondrogenesis. 77
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement 77
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome 77
Reticulate vascular lesions and a large head. 76
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. 76
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. 76
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome. 75
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 75
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 75
Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum. 75
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. 74
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. 74
KBG syndrome 74
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin 73
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 73
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. 73
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. 72
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum 72
Mutations in PYCR1 cause cutis laxa with progeroid features. 72
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. 72
Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus. 72
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. 71
Membranous Nectin-4 expression is a risk factor for distant relapse of T1-T2, N0 luminal-A early breast cancer 71
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 70
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. 70
Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis. 70
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations 70
Joubert Syndrome and related disorders. 69
Mutations of IRF6 Gene Associated with Van Der Woude Syndrome 69
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development 69
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. 68
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. 68
Normal cognitive functions in joubert syndrome. 68
KBG syndrome in a cohort of Italian patients. 67
Putaminal, but not nigral alterations, characterize hemiparkinsonism-hemiatrophy syndrome: a case report. 67
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders. 66
The syndrome of deafness-dystonia: clinical and genetic heterogeneity. 66
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. 65
Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome. 65
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson’s disease gene rearrangements 65
Expanding CEP290 mutational spectrum in ciliopathies. 64
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 64
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. 64
Cerebellar Disorders in Children. 2012 eds. Chapter11: Joubert Syndrome and Related Disorders. Mac Keith Press. 64
p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis 64
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 63
Nectinopathies: an emerging group of ectodermal dysplasia syndromes. 63
Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome 63
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 62
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1 62
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. 61
Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome 61
Mutation screening of the DYT6/THAP1 gene in Italy. 60
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. 60
Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin 59
Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases 59
Totale 7.972
Salva come PNG Salva come JPEG
Categoria #
all - tutte 37.310
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 37.310
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021233 0 0 0 0 0 123 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
2025/20261.897 221 254 496 626 249 51 0 0 0 0 0 0
Totale 8.744