IRIS
BRANCATI, FRANCESCO
 Distribuzione geografica
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Continente #
NA - Nord America 3.909
EU - Europa 3.329
AS - Asia 826
AF - Africa 4
OC - Oceania 1
SA - Sud America 1
Totale 8.070
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Nazione #
US - Stati Uniti d'America 3.908
SE - Svezia 1.205
IE - Irlanda 949
CN - Cina 553
DE - Germania 399
UA - Ucraina 270
TR - Turchia 249
IT - Italia 201
GB - Regno Unito 181
FR - Francia 77
BE - Belgio 14
FI - Finlandia 14
VN - Vietnam 10
NL - Olanda 6
AT - Austria 5
IN - India 4
ES - Italia 3
ZA - Sudafrica 3
HK - Hong Kong 2
KZ - Kazakistan 2
MY - Malesia 2
TW - Taiwan 2
AR - Argentina 1
AU - Australia 1
CA - Canada 1
CZ - Repubblica Ceca 1
DZ - Algeria 1
MD - Moldavia 1
PH - Filippine 1
PT - Portogallo 1
RU - Federazione Russa 1
SG - Singapore 1
VA - Santa Sede (Città del Vaticano) 1
Totale 8.070
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Città #
Jacksonville 1.088
Dublin 941
Chandler 844
Nanjing 237
Izmir 235
New York 166
Lawrence 155
Princeton 155
Boardman 134
Wilmington 126
San Mateo 120
Bremen 94
Ashburn 82
Ann Arbor 63
L'aquila 58
Woodbridge 58
Nanchang 56
Beijing 50
Milan 46
Verona 35
Hebei 34
Shenyang 30
Dearborn 28
Kunming 28
Mountain View 28
Los Angeles 23
Tianjin 23
Jiaxing 22
Falls Church 16
Lanzhou 15
Brussels 14
L’Aquila 14
Norwalk 14
Changsha 13
Des Moines 11
Shanghai 11
Changchun 10
Dong Ket 10
Helsinki 6
Rome 6
Seattle 6
Berlin 5
Gavirate 5
Redwood City 5
Vienna 5
Auburn Hills 4
Cambridge 4
Cedar Knolls 4
Frugarolo 4
Hefei 4
Jinan 4
Nürnberg 4
Pune 4
Tappahannock 4
Edinburgh 3
Lappeenranta 3
Nanterre 3
Arco 2
Cape Town 2
Catanzaro 2
Dallas 2
Frankfurt am Main 2
Hangzhou 2
Houston 2
Kaohsiung City 2
Kuala Lumpur 2
Mollet Del Vallès 2
Ningbo 2
Pawtucket 2
Troina 2
Tukwila 2
Albany 1
Alicante 1
Almaty 1
Amsterdam 1
Arzano 1
Atlanta 1
Bronx 1
Buenos Aires 1
Chicago 1
Eagle Mountain 1
Fremont 1
Genoa 1
Guangzhou 1
Guiyang 1
Hanover 1
Itri 1
Jinhua 1
Johannesburg 1
Lanciano 1
Lisbon 1
London 1
Manila 1
Naaldwijk 1
Oral 1
Orange 1
Paris 1
Phoenix 1
Pontecorvo 1
Redmond 1
Totale 5.227
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Nome #
Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations 89
Formation of new chromatin domains determines pathogenicity of genomic duplications 88
A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype 84
Reticulate vascular lesions and a large head. 83
A single strand conformation polymorphism-based carrier test for spinal muscular atrophy. 78
Membranous Nectin-4 expression is a risk factor for distant relapse of T1-T2, N0 luminal-A early breast cancer 76
Assessment of the retinal posterior pole in dominant optic atrophy by spectral-domain optical coherence tomography and microperimetry 74
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. 73
PARK6-linked parkinsonism occurs in several European families. 70
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. 70
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. 69
Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome 69
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 68
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 68
Joubert Syndrome and related disorders. 67
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. 67
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders 67
KBG syndrome in a cohort of Italian patients. 67
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome. 66
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations 66
Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1 65
Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women. 65
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 64
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. 64
A family study on primary blepharospasm. 64
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. 64
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes 64
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 64
Ablepharon-macrostomia syndrome in a 46-year-old woman. 63
Cerebellar Disorders in Children. 2012 eds. Chapter11: Joubert Syndrome and Related Disorders. Mac Keith Press. 63
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 63
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. 63
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. 63
A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial PartialLipodystrophy 62
Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum. 62
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female 62
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. 61
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. 61
Normal cognitive functions in joubert syndrome. 61
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 61
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. 61
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. 61
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin 60
Clinical and laboratory phenotype associated with the aspirin-like defect. 60
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). 60
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. 60
Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome 60
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. 60
Putaminal, but not nigral alterations, characterize hemiparkinsonism-hemiatrophy syndrome: a case report. 59
Mutations in PYCR1 cause cutis laxa with progeroid features. 59
Primary hypertrophic osteoarthropathy: a new family supporting genetic heterogeneity. 59
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 59
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum 59
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. 59
Clinical utility gene card for: Joubert syndrome 59
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. 58
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. 58
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome 58
Genotypes and phenotypes of Joubert syndrome and related disorders 58
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View 58
Delineation of MidXq28-Duplication Syndrome Distal to MECP2 and Proximal to RAB39B genes 58
Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin 57
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement 57
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. 57
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 57
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions 57
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1 57
Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies. 56
Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome 56
PARK6 is a common cause of familial parkinsonism. 56
Recurrent triploidy of maternal origin. 56
Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis. 56
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 56
Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy. 56
Diffusion tensor imaging in Joubert syndrome 56
Primary hypothyroidism and osteopenia associated with Neuhauser syndrome. 55
A novel family with an unusual early onset generalized dystonia. 55
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. 55
p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis 55
Quantitative ultrasound at the phalanges in a cohort of monozygotic twins of different ages 55
Nectinopathies: an emerging group of ectodermal dysplasia syndromes. 55
Mutation screening of the DYT6/THAP1 gene in Italy. 55
Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus. 55
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 54
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain 54
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. 54
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 54
Hypochondrogenesis. 53
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson’s disease gene rearrangements 53
Primary focal hyperhidrosis in a new family not linked to known Loci. 53
KBG syndrome 53
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation 53
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. 52
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. 52
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 52
De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver 52
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. 52
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy 51
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. 51
Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type: Update and perspectives 51
Totale 6.085
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Categoria #
all - tutte 27.805
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 27.805
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019257 0 0 0 0 0 0 0 0 0 0 8 249
2019/20201.041 248 1 130 7 9 153 149 26 164 15 3 136
2020/20211.352 14 138 0 155 146 103 153 6 156 107 263 111
2021/20221.365 106 4 693 107 15 11 13 70 55 6 62 223
2022/20232.662 187 87 32 247 368 219 11 167 1.208 17 71 48
2023/2024545 108 49 35 24 45 190 10 50 7 25 2 0
Totale 8.256