BRANCATI, Francesco
 Distribuzione geografica
Continente #
NA - Nord America 2.342
EU - Europa 2.267
AS - Asia 1.220
Continente sconosciuto - Info sul continente non disponibili 12
OC - Oceania 4
SA - Sud America 4
AF - Africa 1
Totale 5.850
Nazione #
US - Stati Uniti d'America 2.341
UA - Ucraina 594
CN - Cina 542
IE - Irlanda 441
TR - Turchia 364
SG - Singapore 275
SE - Svezia 270
GB - Regno Unito 260
FR - Francia 159
DE - Germania 149
IT - Italia 133
FI - Finlandia 118
RU - Federazione Russa 87
IN - India 29
AT - Austria 20
BE - Belgio 17
NL - Olanda 14
EU - Europa 12
IL - Israele 5
AU - Australia 4
GR - Grecia 4
BR - Brasile 3
HK - Hong Kong 2
VN - Vietnam 2
IR - Iran 1
MX - Messico 1
NG - Nigeria 1
RO - Romania 1
UY - Uruguay 1
Totale 5.850
Città #
Jacksonville 690
Dublin 439
Chandler 399
Princeton 273
Southend 220
Singapore 219
Izmir 199
Nanjing 182
Wilmington 117
Cambridge 115
Beijing 80
Dearborn 67
Nanchang 66
Ann Arbor 63
Altamura 60
Santa Clara 45
Boardman 42
Hebei 31
Kunming 30
Tianjin 29
Shenyang 25
Ashburn 20
Hangzhou 19
Vienna 19
Woodbridge 19
Jiaxing 17
Changsha 14
Grevenbroich 11
Houston 10
Chieti 9
Norwalk 9
Rome 9
Waanrode 9
Brussels 8
Falls Church 8
Lanzhou 8
Orange 8
Auburn Hills 5
London 5
Milan 5
Ningbo 5
Washington 5
Helsinki 4
Tappahannock 4
Chicago 3
Jinan 3
Los Angeles 3
Rio de Janeiro 3
Romola 3
Seattle 3
Turin 3
Dong Ket 2
Florence 2
Grafing 2
Guangzhou 2
Hefei 2
Hong Kong 2
Istanbul 2
Lissone 2
Notaresco 2
Pradamano 2
Quzhou 2
Shanghai 2
Sydney 2
Zhengzhou 2
Andover 1
Aquila 1
Ardabil 1
Bangalore 1
Barbeano 1
Bologna 1
Carrasco Norte 1
Changchun 1
Clifton 1
Francavilla Al Mare 1
Frankfurt am Main 1
Fuzhou 1
Galway 1
Haikou 1
Hanover 1
Lagos 1
Le Deschaux 1
Marano Di Napoli 1
Mexico City 1
Modena 1
Molise 1
Moscow 1
Mumbai 1
Munich 1
Penrith 1
Pingdingshan 1
Redmond 1
Rho 1
Rozzano 1
San Mateo 1
Secaucus 1
Simi Valley 1
Taiyuan 1
Taizhou 1
Teramo 1
Totale 3.705
Nome #
Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome 107
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. 87
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy 86
A family study on primary blepharospasm. 84
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. 84
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome 83
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. 77
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. 75
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female 75
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. 74
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. 73
Ablepharon-macrostomia syndrome in a 46-year-old woman. 72
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). 71
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. 71
A single strand conformation polymorphism-based carrier test for spinal muscular atrophy. 70
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. 70
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene 69
Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women. 68
A novel family with an unusual early onset generalized dystonia. 67
Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome 67
Primary hypothyroidism and osteopenia associated with Neuhauser syndrome. 66
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. 64
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. 64
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. 63
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 63
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes 63
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. 62
Recurrent triploidy of maternal origin. 62
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. 62
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 62
Diffusion tensor imaging in Joubert syndrome 62
Reticulate vascular lesions and a large head. 60
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. 60
Hypochondrogenesis. 60
PARK6-linked parkinsonism occurs in several European families. 60
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 59
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. 59
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 58
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. 58
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement 58
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. 57
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. 56
KBG syndrome 56
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders 56
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 55
Clinical and laboratory phenotype associated with the aspirin-like defect. 55
Mutations of IRF6 Gene Associated with Van Der Woude Syndrome 55
A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial PartialLipodystrophy 55
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum 54
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 54
KBG syndrome in a cohort of Italian patients. 53
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 52
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. 51
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome 51
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson’s disease gene rearrangements 51
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome. 50
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 49
A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders. 49
De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver 49
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation 49
Quantitative ultrasound at the phalanges in a cohort of monozygotic twins of different ages 49
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations 49
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin 48
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 48
Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum. 47
Nectinopathies: an emerging group of ectodermal dysplasia syndromes. 47
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development 47
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders. 46
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. 45
Mutations in PYCR1 cause cutis laxa with progeroid features. 45
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. 45
Membranous Nectin-4 expression is a risk factor for distant relapse of T1-T2, N0 luminal-A early breast cancer 45
The syndrome of deafness-dystonia: clinical and genetic heterogeneity. 44
Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy. 43
Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies. 42
Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome. 41
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. 41
Genotypes and phenotypes of Joubert syndrome and related disorders 40
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 40
Cerebellar Disorders in Children. 2012 eds. Chapter11: Joubert Syndrome and Related Disorders. Mac Keith Press. 40
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. 40
Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis. 40
p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis 40
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 39
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 39
Normal cognitive functions in joubert syndrome. 39
Clinical utility gene card for: Joubert syndrome 39
Mutations in the NHEJ component XRCC4 cause primordial dwarfism 39
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain 39
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes 38
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 37
Primary focal hyperhidrosis in a new family not linked to known Loci. 37
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. 37
Joubert Syndrome and related disorders. 37
PARK6 is a common cause of familial parkinsonism. 37
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions 37
Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome 37
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. 36
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. 36
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. 36
Totale 5.463
Categoria #
all - tutte 26.438
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 26.438


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020491 0 0 0 0 0 0 145 139 11 55 137 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
2024/2025506 141 174 148 16 11 12 4 0 0 0 0 0
Totale 5.960