BRANCATI, Francesco
 Distribuzione geografica
Continente #
NA - Nord America 2.607
EU - Europa 2.333
AS - Asia 1.893
SA - Sud America 194
AF - Africa 15
Continente sconosciuto - Info sul continente non disponibili 12
OC - Oceania 4
Totale 7.058
Nazione #
US - Stati Uniti d'America 2.586
CN - Cina 724
SG - Singapore 638
UA - Ucraina 594
IE - Irlanda 441
TR - Turchia 366
GB - Regno Unito 272
SE - Svezia 270
BR - Brasile 176
DE - Germania 167
FR - Francia 162
IT - Italia 136
FI - Finlandia 118
RU - Federazione Russa 93
HK - Hong Kong 63
IN - India 32
AT - Austria 29
VN - Vietnam 27
BE - Belgio 17
NL - Olanda 17
EU - Europa 12
BD - Bangladesh 9
MX - Messico 9
CA - Canada 8
PK - Pakistan 7
PL - Polonia 7
IQ - Iraq 6
AR - Argentina 5
IL - Israele 5
VE - Venezuela 5
ZA - Sudafrica 5
AU - Australia 4
GR - Grecia 4
AE - Emirati Arabi Uniti 3
CO - Colombia 3
JP - Giappone 3
KE - Kenya 3
MA - Marocco 3
EC - Ecuador 2
ES - Italia 2
NG - Nigeria 2
NP - Nepal 2
SA - Arabia Saudita 2
UZ - Uzbekistan 2
BA - Bosnia-Erzegovina 1
DO - Repubblica Dominicana 1
EE - Estonia 1
EG - Egitto 1
GE - Georgia 1
GY - Guiana 1
HN - Honduras 1
IR - Iran 1
KG - Kirghizistan 1
LT - Lituania 1
NI - Nicaragua 1
PY - Paraguay 1
QA - Qatar 1
RO - Romania 1
SN - Senegal 1
SV - El Salvador 1
UY - Uruguay 1
Totale 7.058
Città #
Jacksonville 690
Dublin 439
Singapore 432
Chandler 399
Princeton 273
Southend 220
Izmir 199
Nanjing 182
Beijing 136
Wilmington 117
Cambridge 115
Tongling 85
The Dalles 83
Dearborn 67
Nanchang 66
Ann Arbor 63
Hong Kong 63
Altamura 60
Santa Clara 54
Boardman 42
Ashburn 41
Hebei 31
Kunming 30
Tianjin 29
Shenyang 25
Vienna 24
Hangzhou 19
Woodbridge 19
Jiaxing 17
Los Angeles 15
São Paulo 15
Changsha 14
Rio de Janeiro 14
Chicago 13
Brooklyn 11
Grevenbroich 11
Ho Chi Minh City 11
Houston 11
Nuremberg 11
Rome 10
Chieti 9
Norwalk 9
Waanrode 9
Brussels 8
Falls Church 8
Lanzhou 8
Orange 8
London 7
Warsaw 7
New York 6
Washington 6
Auburn Hills 5
Mexico City 5
Milan 5
Ningbo 5
Seattle 5
Atlanta 4
Belo Horizonte 4
Hanoi 4
Hefei 4
Helsinki 4
Phoenix 4
Ribeirão Preto 4
San Francisco 4
Tappahannock 4
Turin 4
Boston 3
Casablanca 3
Jinan 3
Montreal 3
Romola 3
Secaucus 3
Tokyo 3
Uberlândia 3
Alagoinhas 2
Americana 2
Amsterdam 2
Cape Town 2
Caracas 2
Catalão 2
Dhaka 2
Diadema 2
Dong Ket 2
Dubai 2
Erbil 2
Florence 2
Franca 2
Goiânia 2
Grafing 2
Guangzhou 2
Istanbul 2
Itapetinga 2
Johannesburg 2
Karachi 2
Lagos 2
Lissone 2
Londrina 2
Maringá 2
Moscow 2
Nairobi 2
Totale 4.382
Nome #
Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome 124
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. 105
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. 102
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy 102
A family study on primary blepharospasm. 97
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome 92
Ablepharon-macrostomia syndrome in a 46-year-old woman. 90
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. 90
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. 87
A single strand conformation polymorphism-based carrier test for spinal muscular atrophy. 86
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). 85
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. 85
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 85
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. 85
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. 84
Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women. 83
A novel family with an unusual early onset generalized dystonia. 82
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. 82
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female 82
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 79
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene 77
Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome 76
Diffusion tensor imaging in Joubert syndrome 76
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. 75
Primary hypothyroidism and osteopenia associated with Neuhauser syndrome. 74
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. 73
Recurrent triploidy of maternal origin. 72
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 72
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 72
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. 72
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. 71
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes 71
Reticulate vascular lesions and a large head. 70
PARK6-linked parkinsonism occurs in several European families. 70
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement 70
A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial PartialLipodystrophy 70
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders 70
Hypochondrogenesis. 69
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. 69
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. 69
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 69
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. 68
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. 68
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome 68
Clinical and laboratory phenotype associated with the aspirin-like defect. 68
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 67
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 67
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 65
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. 65
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome. 64
KBG syndrome 64
A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders. 64
KBG syndrome in a cohort of Italian patients. 63
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. 63
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin 63
Mutations in PYCR1 cause cutis laxa with progeroid features. 63
Mutations of IRF6 Gene Associated with Van Der Woude Syndrome 63
De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver 63
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations 63
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. 62
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum 62
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development 60
Quantitative ultrasound at the phalanges in a cohort of monozygotic twins of different ages 60
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation 59
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders. 57
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. 57
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson’s disease gene rearrangements 57
Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum. 56
The syndrome of deafness-dystonia: clinical and genetic heterogeneity. 56
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 55
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 55
Nectinopathies: an emerging group of ectodermal dysplasia syndromes. 55
Membranous Nectin-4 expression is a risk factor for distant relapse of T1-T2, N0 luminal-A early breast cancer 55
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 54
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. 53
Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy. 53
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. 52
Genotypes and phenotypes of Joubert syndrome and related disorders 50
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 50
Primary focal hyperhidrosis in a new family not linked to known Loci. 50
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 50
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. 50
Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis. 50
Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies. 48
Clinical utility gene card for: Joubert syndrome 48
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. 47
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes 47
Joubert Syndrome and related disorders. 46
Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome. 46
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. 46
Cerebellar Disorders in Children. 2012 eds. Chapter11: Joubert Syndrome and Related Disorders. Mac Keith Press. 46
Mutations in the NHEJ component XRCC4 cause primordial dwarfism 46
Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome 46
Normal cognitive functions in joubert syndrome. 45
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. 44
PARK6 is a common cause of familial parkinsonism. 43
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions 43
p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis 43
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain 43
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. 42
Totale 6.570
Categoria #
all - tutte 33.052
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 33.052


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021412 0 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
2024/20251.393 141 174 148 16 11 12 30 97 143 124 147 350
2025/2026321 221 100 0 0 0 0 0 0 0 0 0 0
Totale 7.168