IRIS
BRANCATI, Francesco
 Distribuzione geografica
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Continente #
EU - Europa 2.251
NA - Nord America 2.199
AS - Asia 990
Continente sconosciuto - Info sul continente non disponibili 12
OC - Oceania 2
SA - Sud America 2
Totale 5.456
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Nazione #
US - Stati Uniti d'America 2.198
UA - Ucraina 593
CN - Cina 535
IE - Irlanda 441
TR - Turchia 362
SE - Svezia 270
GB - Regno Unito 259
FR - Francia 157
DE - Germania 148
IT - Italia 124
FI - Finlandia 117
RU - Federazione Russa 87
SG - Singapore 56
IN - India 29
AT - Austria 19
BE - Belgio 17
NL - Olanda 14
EU - Europa 12
IL - Israele 5
GR - Grecia 4
AU - Australia 2
VN - Vietnam 2
BR - Brasile 1
IR - Iran 1
MX - Messico 1
RO - Romania 1
UY - Uruguay 1
Totale 5.456
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Città #
Jacksonville 690
Dublin 439
Chandler 399
Princeton 273
Southend 220
Izmir 199
Nanjing 182
Wilmington 117
Cambridge 115
Beijing 80
Dearborn 67
Nanchang 66
Ann Arbor 63
Altamura 59
Boardman 42
Hebei 31
Singapore 31
Kunming 30
Tianjin 29
Shenyang 25
Hangzhou 19
Vienna 19
Woodbridge 19
Ashburn 17
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
Tappahannock 4
Chicago 3
Helsinki 3
Jinan 3
Seattle 3
Turin 3
Dong Ket 2
Grafing 2
Hefei 2
Lissone 2
Los Angeles 2
Notaresco 2
Pradamano 2
Quzhou 2
Shanghai 2
Zhengzhou 2
Andover 1
Aquila 1
Ardabil 1
Bangalore 1
Bologna 1
Carrasco Norte 1
Changchun 1
Clifton 1
Francavilla Al Mare 1
Frankfurt am Main 1
Fuzhou 1
Galway 1
Guangzhou 1
Haikou 1
Hanover 1
Le Deschaux 1
Marano Di Napoli 1
Mexico City 1
Modena 1
Molise 1
Moscow 1
Mumbai 1
Penrith 1
Redmond 1
Rho 1
Rio de Janeiro 1
Rozzano 1
San Mateo 1
Secaucus 1
Simi Valley 1
Taiyuan 1
Taizhou 1
Teramo 1
Voghera 1
Walnut 1
Wenzhou 1
Westport 1
Xian 1
Totale 3.453
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Nome #
Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome 102
A family study on primary blepharospasm. 79
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy 78
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome 78
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. 77
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. 73
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. 70
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female 69
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. 68
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. 68
Ablepharon-macrostomia syndrome in a 46-year-old woman. 67
A single strand conformation polymorphism-based carrier test for spinal muscular atrophy. 67
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. 67
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. 67
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). 66
A novel family with an unusual early onset generalized dystonia. 65
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. 64
Primary hypothyroidism and osteopenia associated with Neuhauser syndrome. 64
Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women. 64
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene 64
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. 62
Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome 62
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes 61
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. 60
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 60
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. 59
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. 59
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. 58
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. 58
Recurrent triploidy of maternal origin. 58
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 58
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 57
Hypochondrogenesis. 57
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. 57
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. 56
Diffusion tensor imaging in Joubert syndrome 56
PARK6-linked parkinsonism occurs in several European families. 55
Reticulate vascular lesions and a large head. 54
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement 54
KBG syndrome 54
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 54
Mutations of IRF6 Gene Associated with Van Der Woude Syndrome 54
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. 53
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 53
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 53
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. 52
Clinical and laboratory phenotype associated with the aspirin-like defect. 52
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders 52
KBG syndrome in a cohort of Italian patients. 51
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum 51
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome. 49
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. 49
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome 49
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 48
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation 48
Quantitative ultrasound at the phalanges in a cohort of monozygotic twins of different ages 48
A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial PartialLipodystrophy 48
A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders. 47
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson’s disease gene rearrangements 47
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations 47
Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum. 45
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 45
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin 44
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 44
Mutations in PYCR1 cause cutis laxa with progeroid features. 43
Nectinopathies: an emerging group of ectodermal dysplasia syndromes. 43
Membranous Nectin-4 expression is a risk factor for distant relapse of T1-T2, N0 luminal-A early breast cancer 43
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. 42
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders. 41
De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver 41
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development 41
Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies. 40
The syndrome of deafness-dystonia: clinical and genetic heterogeneity. 40
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. 40
Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy. 39
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 38
Cerebellar Disorders in Children. 2012 eds. Chapter11: Joubert Syndrome and Related Disorders. Mac Keith Press. 38
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. 38
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 37
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 37
Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome. 37
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. 37
Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis. 37
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes 37
Mutations in the NHEJ component XRCC4 cause primordial dwarfism 37
p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis 37
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain 37
Genotypes and phenotypes of Joubert syndrome and related disorders 36
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 36
Primary focal hyperhidrosis in a new family not linked to known Loci. 36
Joubert Syndrome and related disorders. 36
Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome 36
Normal cognitive functions in joubert syndrome. 35
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. 35
Clinical utility gene card for: Joubert syndrome 35
Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome 35
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. 34
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. 33
PARK6 is a common cause of familial parkinsonism. 33
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. 33
Totale 5.108
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Categoria #
all - tutte 21.738
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 21.738
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.255 463 113 3 46 83 56 145 139 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
2024/2025112 112 0 0 0 0 0 0 0 0 0 0 0
Totale 5.566