IRIS
BRANCATI, Francesco
 Distribuzione geografica
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Continente #
NA - Nord America 2.431
EU - Europa 2.301
AS - Asia 1.427
SA - Sud America 88
Continente sconosciuto - Info sul continente non disponibili 12
AF - Africa 7
OC - Oceania 4
Totale 6.270
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Nazione #
US - Stati Uniti d'America 2.429
UA - Ucraina 594
CN - Cina 542
IE - Irlanda 441
SG - Singapore 418
TR - Turchia 364
SE - Svezia 270
GB - Regno Unito 260
DE - Germania 167
FR - Francia 162
IT - Italia 135
FI - Finlandia 118
RU - Federazione Russa 88
BR - Brasile 77
HK - Hong Kong 53
IN - India 29
AT - Austria 28
BE - Belgio 17
NL - Olanda 15
EU - Europa 12
IL - Israele 5
AU - Australia 4
GR - Grecia 4
VN - Vietnam 4
AR - Argentina 3
CO - Colombia 3
KE - Kenya 3
PK - Pakistan 3
AE - Emirati Arabi Uniti 2
EC - Ecuador 2
MX - Messico 2
VE - Venezuela 2
EE - Estonia 1
EG - Egitto 1
GE - Georgia 1
IR - Iran 1
JP - Giappone 1
MA - Marocco 1
NG - Nigeria 1
NP - Nepal 1
QA - Qatar 1
RO - Romania 1
SA - Arabia Saudita 1
UY - Uruguay 1
UZ - Uzbekistan 1
ZA - Sudafrica 1
Totale 6.270
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Città #
Jacksonville 690
Dublin 439
Chandler 399
Princeton 273
Singapore 231
Southend 220
Izmir 199
Nanjing 182
Wilmington 117
Cambridge 115
Beijing 80
The Dalles 75
Dearborn 67
Nanchang 66
Ann Arbor 63
Altamura 60
Hong Kong 53
Santa Clara 46
Boardman 42
Hebei 31
Kunming 30
Tianjin 29
Shenyang 25
Vienna 24
Ashburn 21
Hangzhou 19
Woodbridge 19
Jiaxing 17
Changsha 14
Grevenbroich 11
Nuremberg 11
Houston 10
Rome 10
Chieti 9
Norwalk 9
Waanrode 9
Brussels 8
Falls Church 8
Lanzhou 8
Orange 8
São Paulo 7
Auburn Hills 5
London 5
Milan 5
Ningbo 5
Rio de Janeiro 5
Washington 5
Helsinki 4
Tappahannock 4
Chicago 3
Jinan 3
Los Angeles 3
Romola 3
Seattle 3
Turin 3
Uberlândia 3
Belo Horizonte 2
Caracas 2
Dong Ket 2
Florence 2
Grafing 2
Guangzhou 2
Hanoi 2
Hefei 2
Istanbul 2
Lissone 2
Moscow 2
Nairobi 2
Notaresco 2
Porto Alegre 2
Pradamano 2
Quzhou 2
Secaucus 2
Shanghai 2
Sydney 2
Zhengzhou 2
Alagoa Grande 1
Alagoinhas 1
Andover 1
Aquila 1
Ardabil 1
Assis 1
Bangalore 1
Barbacena 1
Barbeano 1
Barra do Choça 1
Bogotá 1
Bologna 1
Brasília 1
Camaquã 1
Campinas 1
Campo Maior 1
Canoas 1
Carapicuíba 1
Carrasco Norte 1
Caruaru 1
Casablanca 1
Caucaia 1
Changchun 1
Clifton 1
Totale 3.877
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Nome #
Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome 114
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. 95
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy 94
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. 90
A family study on primary blepharospasm. 87
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome 84
A single strand conformation polymorphism-based carrier test for spinal muscular atrophy. 79
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. 79
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female 79
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. 78
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. 78
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). 77
Ablepharon-macrostomia syndrome in a 46-year-old woman. 77
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. 76
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. 76
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. 74
A novel family with an unusual early onset generalized dystonia. 72
Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women. 72
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene 72
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 69
Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome 68
Diffusion tensor imaging in Joubert syndrome 68
Primary hypothyroidism and osteopenia associated with Neuhauser syndrome. 67
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. 66
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. 66
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 65
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. 65
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. 65
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement 65
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes 65
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. 64
Recurrent triploidy of maternal origin. 64
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. 64
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 64
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 64
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders 64
Reticulate vascular lesions and a large head. 63
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. 62
A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial PartialLipodystrophy 62
Hypochondrogenesis. 61
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. 61
PARK6-linked parkinsonism occurs in several European families. 61
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 60
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 60
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome 59
Clinical and laboratory phenotype associated with the aspirin-like defect. 59
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 58
KBG syndrome 58
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. 58
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations 58
KBG syndrome in a cohort of Italian patients. 57
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. 57
A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders. 57
Quantitative ultrasound at the phalanges in a cohort of monozygotic twins of different ages 57
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum 56
Mutations of IRF6 Gene Associated with Van Der Woude Syndrome 56
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation 55
Mutations in PYCR1 cause cutis laxa with progeroid features. 54
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome. 53
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. 53
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 53
De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver 53
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development 53
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson’s disease gene rearrangements 53
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin 51
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders. 51
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 50
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 50
Nectinopathies: an emerging group of ectodermal dysplasia syndromes. 50
Membranous Nectin-4 expression is a risk factor for distant relapse of T1-T2, N0 luminal-A early breast cancer 49
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. 48
Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy. 48
The syndrome of deafness-dystonia: clinical and genetic heterogeneity. 48
Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum. 47
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. 47
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 46
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. 46
Genotypes and phenotypes of Joubert syndrome and related disorders 45
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 45
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 45
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. 45
Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies. 43
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions 43
Mutations in the NHEJ component XRCC4 cause primordial dwarfism 43
Primary focal hyperhidrosis in a new family not linked to known Loci. 42
Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome. 42
Clinical utility gene card for: Joubert syndrome 41
Cerebellar Disorders in Children. 2012 eds. Chapter11: Joubert Syndrome and Related Disorders. Mac Keith Press. 41
Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis. 41
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes 41
Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome 41
p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis 41
Normal cognitive functions in joubert syndrome. 40
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. 40
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain 40
Joubert Syndrome and related disorders. 39
Expanding CEP290 mutational spectrum in ciliopathies. 39
PARK6 is a common cause of familial parkinsonism. 39
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. 39
Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases 39
Totale 5.858
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Categoria #
all - tutte 30.158
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 30.158
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020141 0 0 0 0 0 0 0 0 0 0 137 4
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
2024/2025926 141 174 148 16 11 12 30 97 143 124 30 0
Totale 6.380