IRIS
BRANCATI, Francesco
 Distribuzione geografica
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Continente #
NA - Nord America 4.781
AS - Asia 3.078
EU - Europa 2.837
SA - Sud America 579
Continente sconosciuto - Info sul continente non disponibili 123
AF - Africa 40
OC - Oceania 6
Totale 11.444
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Nazione #
US - Stati Uniti d'America 4.614
SG - Singapore 1.081
CN - Cina 887
UA - Ucraina 600
BR - Brasile 467
IE - Irlanda 441
RU - Federazione Russa 393
TR - Turchia 372
VN - Vietnam 352
GB - Regno Unito 323
SE - Svezia 275
IT - Italia 224
DE - Germania 176
FR - Francia 169
FI - Finlandia 118
HK - Hong Kong 113
BD - Bangladesh 74
CA - Canada 68
IN - India 62
AR - Argentina 38
AT - Austria 32
MX - Messico 28
EC - Ecuador 24
NL - Olanda 24
ID - Indonesia 23
IQ - Iraq 22
KR - Corea 19
PL - Polonia 19
BE - Belgio 17
CO - Colombia 17
JM - Giamaica 15
ZA - Sudafrica 15
PK - Pakistan 14
HN - Honduras 13
EU - Europa 12
JP - Giappone 11
ES - Italia 10
CR - Costa Rica 9
SA - Arabia Saudita 9
VE - Venezuela 9
DO - Repubblica Dominicana 7
MA - Marocco 7
PY - Paraguay 7
AU - Australia 6
IL - Israele 6
KE - Kenya 6
PR - Porto Rico 6
PE - Perù 5
TT - Trinidad e Tobago 5
AE - Emirati Arabi Uniti 4
GP - Guadalupe 4
GR - Grecia 4
SV - El Salvador 4
UY - Uruguay 4
UZ - Uzbekistan 4
BO - Bolivia 3
CL - Cile 3
DZ - Algeria 3
EE - Estonia 3
EG - Egitto 3
IR - Iran 3
LB - Libano 3
NP - Nepal 3
GE - Georgia 2
GT - Guatemala 2
GY - Guiana 2
JO - Giordania 2
KZ - Kazakistan 2
LT - Lituania 2
MY - Malesia 2
NG - Nigeria 2
NI - Nicaragua 2
PA - Panama 2
PH - Filippine 2
RO - Romania 2
BA - Bosnia-Erzegovina 1
BG - Bulgaria 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BS - Bahamas 1
BT - Bhutan 1
CH - Svizzera 1
CI - Costa d'Avorio 1
CW - ???statistics.table.value.countryCode.CW??? 1
CZ - Repubblica Ceca 1
ET - Etiopia 1
KG - Kirghizistan 1
MK - Macedonia 1
OM - Oman 1
QA - Qatar 1
SN - Senegal 1
TN - Tunisia 1
VC - Saint Vincent e Grenadine 1
Totale 11.334
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Città #
Singapore 738
Jacksonville 692
San Jose 496
Dublin 439
Chandler 399
Princeton 273
Southend 220
Ashburn 218
Dallas 218
Beijing 217
Council Bluffs 200
Izmir 199
Nanjing 182
Ho Chi Minh City 143
Wilmington 117
Cambridge 115
Hong Kong 108
Los Angeles 94
The Dalles 85
Tongling 85
Santa Clara 82
Hanoi 77
Dearborn 67
Nanchang 67
Ann Arbor 63
Altamura 60
Buffalo 59
São Paulo 47
New York 44
Boardman 42
Irving 34
Moscow 33
Hebei 31
Kunming 30
Tianjin 30
Chicago 25
Shenyang 25
Vienna 25
Phoenix 23
Redondo Beach 22
Rio de Janeiro 22
Brooklyn 21
Houston 21
Hangzhou 20
Atlanta 19
Da Nang 19
Orem 19
Seoul 19
Woodbridge 19
Montreal 18
Jiaxing 17
Rome 17
Warsaw 17
Las Vegas 15
London 15
Mount Pleasant 15
Changsha 14
Chennai 13
Milan 13
North Bergen 12
Grevenbroich 11
Mexico City 11
Nuremberg 11
Quito 11
Tokyo 11
Baghdad 10
Belo Horizonte 10
Haiphong 10
Naples 10
Poplar 10
Brasília 9
Chieti 9
Hải Dương 9
Johannesburg 9
Manchester 9
Norwalk 9
Turin 9
Waanrode 9
Brussels 8
Falls Church 8
Guayaquil 8
Lanzhou 8
Orange 8
Curitiba 7
Denver 7
Frankfurt am Main 7
Mumbai 7
Washington 7
Amsterdam 6
Boston 6
Bắc Ninh 6
Campinas 6
Kingston 6
Salvador 6
San José 6
Seattle 6
Toronto 6
Auburn Hills 5
Betim 5
Biên Hòa 5
Totale 6.790
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Nome #
Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome 169
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. 160
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. 153
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy 150
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). 148
A single strand conformation polymorphism-based carrier test for spinal muscular atrophy. 144
A family study on primary blepharospasm. 143
Normal cognitive functions in joubert syndrome. 143
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. 136
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 135
Ablepharon-macrostomia syndrome in a 46-year-old woman. 134
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. 132
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 132
Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women. 130
A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial PartialLipodystrophy 130
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. 127
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 126
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. 125
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. 123
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. 122
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 122
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. 121
A novel family with an unusual early onset generalized dystonia. 121
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome 120
Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome 119
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. 118
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. 114
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 114
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female 113
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene 113
A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders. 112
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. 111
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome. 110
Clinical and laboratory phenotype associated with the aspirin-like defect. 110
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders 109
Diffusion tensor imaging in Joubert syndrome 107
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation 106
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. 105
Recurrent triploidy of maternal origin. 105
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. 104
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement 104
Joubert Syndrome and related disorders. 104
Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus. 103
De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver 103
Primary hypothyroidism and osteopenia associated with Neuhauser syndrome. 102
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome 101
Membranous Nectin-4 expression is a risk factor for distant relapse of T1-T2, N0 luminal-A early breast cancer 101
Hypochondrogenesis. 100
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 100
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 98
Quantitative ultrasound at the phalanges in a cohort of monozygotic twins of different ages 98
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 97
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. 97
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations 97
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. 96
KBG syndrome 96
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development 96
PARK6-linked parkinsonism occurs in several European families. 95
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes 95
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. 95
Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis. 95
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin 94
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 94
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. 94
Reticulate vascular lesions and a large head. 93
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum 92
Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum. 92
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. 91
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. 91
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. 91
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. 90
Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy. 90
Mutations in PYCR1 cause cutis laxa with progeroid features. 90
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. 89
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 89
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. 89
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson’s disease gene rearrangements 89
KBG syndrome in a cohort of Italian patients. 88
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 87
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. 86
p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis 85
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders. 83
Putaminal, but not nigral alterations, characterize hemiparkinsonism-hemiatrophy syndrome: a case report. 82
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1 82
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 81
Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome 81
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 80
Cerebellar Disorders in Children. 2012 eds. Chapter11: Joubert Syndrome and Related Disorders. Mac Keith Press. 80
Mutations of IRF6 Gene Associated with Van Der Woude Syndrome 80
The syndrome of deafness-dystonia: clinical and genetic heterogeneity. 80
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. 80
Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin 80
Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies. 79
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. 79
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. 79
Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome 79
Expanding CEP290 mutational spectrum in ciliopathies. 78
Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome. 78
Nectinopathies: an emerging group of ectodermal dysplasia syndromes. 78
Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases 77
Totale 10.409
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Categoria #
all - tutte 48.108
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 48.108
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022448 0 0 0 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
2025/20263.634 221 254 496 626 249 190 443 162 426 268 213 86
2026/2027963 148 212 164 439 0 0 0 0 0 0 0 0
Totale 11.444