CNR Institutional Research Information System

GIANFRANCESCO, FERNANDO
 Distribuzione geografica
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Continente #
AS - Asia 1.899
NA - Nord America 945
EU - Europa 469
SA - Sud America 327
AF - Africa 38
OC - Oceania 2
Totale 3.680
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Nazione #
US - Stati Uniti d'America 901
SG - Singapore 817
CN - Cina 415
BR - Brasile 273
HK - Hong Kong 234
IT - Italia 170
VN - Vietnam 170
FR - Francia 105
KR - Corea 80
NL - Olanda 48
JP - Giappone 40
GB - Regno Unito 30
DE - Germania 29
IN - India 29
BD - Bangladesh 28
FI - Finlandia 19
AR - Argentina 17
CA - Canada 17
EC - Ecuador 15
MX - Messico 15
SA - Arabia Saudita 15
RU - Federazione Russa 13
ES - Italia 12
ZA - Sudafrica 11
IL - Israele 9
IQ - Iraq 8
TR - Turchia 8
CO - Colombia 7
EG - Egitto 7
PK - Pakistan 7
PH - Filippine 6
HN - Honduras 5
ID - Indonesia 5
PL - Polonia 5
PY - Paraguay 5
UA - Ucraina 5
AT - Austria 4
CH - Svizzera 4
MA - Marocco 4
RO - Romania 4
UZ - Uzbekistan 4
AZ - Azerbaigian 3
IE - Irlanda 3
JO - Giordania 3
MY - Malesia 3
PE - Perù 3
PT - Portogallo 3
TH - Thailandia 3
AM - Armenia 2
AO - Angola 2
CL - Cile 2
CZ - Repubblica Ceca 2
KE - Kenya 2
LT - Lituania 2
LV - Lettonia 2
MU - Mauritius 2
PA - Panama 2
SE - Svezia 2
SN - Senegal 2
UY - Uruguay 2
VE - Venezuela 2
AL - Albania 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BF - Burkina Faso 1
BG - Bulgaria 1
CD - Congo 1
DK - Danimarca 1
ET - Etiopia 1
GM - Gambi 1
GR - Grecia 1
GT - Guatemala 1
GU - Guam 1
GY - Guiana 1
JM - Giamaica 1
KG - Kirghizistan 1
KH - Cambogia 1
KW - Kuwait 1
KZ - Kazakistan 1
LB - Libano 1
LU - Lussemburgo 1
MN - Mongolia 1
NC - Nuova Caledonia 1
NG - Nigeria 1
NI - Nicaragua 1
OM - Oman 1
PS - Palestinian Territory 1
SI - Slovenia 1
SO - Somalia 1
SV - El Salvador 1
SY - Repubblica araba siriana 1
TG - Togo 1
TN - Tunisia 1
TW - Taiwan 1
Totale 3.680
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Città #
Singapore 458
Santa Clara 306
Hong Kong 231
Hefei 170
San Jose 122
Beijing 99
Ashburn 96
Lauterbourg 83
Seoul 79
Ho Chi Minh City 53
Assemini 51
Los Angeles 50
Hanoi 38
Tokyo 26
New York 23
Naples 22
Buffalo 19
Milan 16
Haiphong 15
Dallas 14
Helsinki 12
São Paulo 12
Marigliano 11
Minamishinagawa 11
Da Nang 10
Biên Hòa 8
Frankfurt am Main 8
Cairo 7
Düsseldorf 7
Orem 7
Riyadh 7
Toronto 7
Brasília 6
Johannesburg 6
Lappeenranta 6
Nuremberg 6
Porto Alegre 6
Rome 6
Thái Bình 6
Belo Horizonte 5
Brooklyn 5
Curitiba 5
Phoenix 5
Portsmouth 5
Rio de Janeiro 5
Warsaw 5
Amsterdam 4
Atlanta 4
Baghdad 4
Bengaluru 4
Can Tho 4
Chennai 4
City of London 4
Fortaleza 4
Guayaquil 4
Istanbul 4
Jeddah 4
Montreal 4
Thái Nguyên 4
Ambato 3
Anápolis 3
Avellino 3
Campinas 3
Campo Grande 3
Dammam 3
Dhaka 3
Dublin 3
Falkenstein 3
Florence 3
Guangzhou 3
Guarulhos 3
Huế 3
Hyderabad 3
Joinville 3
Jundiaí 3
Phủ Lý 3
Ribeirão Preto 3
Salvador 3
San Francisco 3
Tashkent 3
Vienna 3
Zurich 3
Afragola 2
Amman 2
Asunción 2
Baku 2
Bangkok 2
Blumenau 2
Boardman 2
Bogotá 2
Bắc Ninh 2
Cagliari 2
Camaçari 2
Cape Town 2
Caratinga 2
Casablanca 2
Catanduva 2
Caxias do Sul 2
Chengdu 2
Chicago 2
Totale 2.312
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Nome #
Emergence of Talanin protein associated with human uric acid nephrolithiasis in the Hominidae lineage 77
Identification of sixteen novel candidate genes for late onset Parkinson's disease 72
Ruolo della Melatonina nelle Patologie Metaboliche osee 71
GENETIC-MAPPING OF A GENE ENCODING AN ATYPICAL PROTEIN-KINASE-C, PROTEIN-KINASE-C-LAMBDA, TO THE PROXIMAL REGION OF MOUSE CHROMOSOME-3 67
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix. 66
Modulation of endocannabinoid tone in osteoblastic differentiation of mc3t3-e1 cells and in mouse bone tissue over time 63
Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. 63
The Sex Chromosomes: Sequence, Evolution and Human Diseases. In: The Human Genome: Features, Variations and Genetic Disorders 62
The Loss of Profilin 1 Causes Early Onset Paget's Disease of Bone 62
Profilin 1 deficiency drives mitotic defects and reduces genome stability 61
Identification and chromosomal localisation by fluorescence in situ hybridisation of human gene of phosphoinositide-specific phospholipase C beta 1 60
Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate. 60
The Osteoclast Traces the Route to Bone Tumors and Metastases 56
ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology 54
Effect of phytocannabinoids on androgen deprivation therapy in a high-fat diet-exacerbated prostate cancer 54
The two faces of giant cell tumor of bone 53
The distinct clinical features of giant cell tumor of bone in pagetic and non-pagetic patients are associated with genetic, biochemical and histological differences 51
Escape from X inactivation of two new genes associated with DXS6974E and DXS7020E 49
A non-synonymous TNFRSF11A variation increases NFkB activity and the severity of Paget's disease 49
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. 49
A mutation in the ZNF687 gene that is responsible for the severe form of Paget's disease of bone causes severely altered bone remodeling and promotes hepatocellular carcinoma onset in a knock-in mouse model 49
Evidence for epistatic interaction between VDR and SLC13A2 genes in the pathogenesis of hypocitraturia in recurrent calcium oxalate stone formers. 49
Vitamin D Receptor Gene Polymorphisms Predict Acquired Resistance to Clodronate Treatment in Patients with Paget Disease of Bone 48
A non-synonymous TNFRSF11A variation increases NFkB activity and the severity of Paget's disease. 47
ZNF687 mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone. 47
The identification of H3F3A mutation in giant cell tumour of the clivus and the histological diagnostic algorithm of other clival lesions permit the differential diagnosis in this location 45
Molecular Genetics of Paget's Disease of Bone 44
Differential divergence of three human pseudoautosomal genes and their mouse homologs: implications for sex chromosome evolution. 44
Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 44
Effect of genetic variants of OPTN in the pathophysiology of Paget's disease of bone. 44
Dysregulation of the Expression of Asparagine-Linked Glycosylation 13 Short Isoform 2 Affects Nephrin Function by Altering Its N-Linked Glycosylation. 44
Early Alpine occupation backdates westward human migration in Late Glacial Europe 44
The melatonin receptor 1a (MTNR1A) gene is associated with recurrent and idiopathic calcium nephrolithiasis 44
Novel autophagic vacuolar myopathies: Phenotype and genotype features 43
Early posterior vitreous detachment is associated with LAMA5 dominant mutation 43
Mesenchymal Stromal Cells: from Bone Marrow to Neoplastic Disorders 42
Ogliastra Project: Population, Methodology and Results. 40
Geographic distribution of Ala62Thr variant associated to Uric Acid Nephrolithiasis in Sub-Saharan and Mediterranean area 40
Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density. 40
piR_015520 Belongs to Piwi-Associated RNAs Regulates Expression of the Human Melatonin Receptor 1A Gene 39
Epidemiological, clinical, and genetic characteristics of Paget's disease of bone in a rural area of Calabria, Southern Italy 38
Identification of a susceptibility gene for uric acid kidney stones. 38
From sequence analysis to diseases identification in the distal human xq28 37
ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations 35
A functional allelic variant of the FGF23 gene is associated with renal phospate leak in calcium nephrolithiasis. 35
Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region 35
Autosomal dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation. 34
Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. 34
A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere 33
De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia 33
Genes, Diet and Uric Acid Nephrolithiasis 31
Concerted evolution in mammals of Talanin and uricase genes 31
Clinical characteristics and evolution of giant cell tumor occurring in paget's disease of bone. 31
A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease 31
Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts 30
Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN. 30
4. Molecular cloning and fine mapping of API5L1, a novel human gene strongly related to an antiapoptotic gene 30
Genomic rearrangement in NEMO impairs NF-KAPPAB activation and is a cause of incontinentia pigmenti 28
Genetic variants of Y chromosome are associated with a protective lipid profile in black men 28
De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia. 28
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship. 28
DDX11L: a novel transcript family emerging from human subtelomeric regions 28
Paget's disease of bone: epidemiology, pathogenesis and pharmacotherapy 28
ATP1A2 gene mutations are not present in two sisters with basilar-type migraine associated with menses 28
I cromosomi sessuali umani: origine ed evoluzione 27
Investigation of Gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility 27
Multifactorial disorder: molecular and evolutionary insights of uric acid nephrolithiasis 27
ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor. 26
Identification of a novel candidate gene, CASC2, in a region of common allelic loss at chromosome 10q26 in human endometrial cancer. 26
Giant cell tumor occurring in familial Paget's disease of bone: report of clinical characteristics and linkage analysis of a large pedigree. 25
The evolutionary conservation of the human chitotriosidase gene in rodents and primates. 25
A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene 25
The Melatonin Receptor 1A Gene (MTNR1A) Is Associated With Kidney Stones 24
SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone 24
LONG TERM EFFECTS OF INTRAVENOUS BISPHOSPHONATES IN PAGET'S DISEASE OF BONE AND INTERACTION WITH SQSTM1 MUTATIONS 24
Mapping of 59 EST gene markers in 31 intervals spanning the human X chromosome 24
FSHR gene polymorphisms influence bone mineral density and bone turnover in postmenopausal women 24
Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility 23
Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function 23
Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population. 23
Association between the T239M missense variation in the FGF23 gene and renal phosphate leak 23
Glutamate Receptor Subunit 3 and Migraine Susceptibility 22
Large Collaborative Study on Geographic Variation of SQSTM1 Mutations in Paget's Disease of Bone in Italy 22
Diagnostic and therapeutic means for kidney stone related pathologies 22
Association of a GRIA3 Gene Polymorphism With Migraine in an Australian Case-Control Cohort. 21
Hypovitaminosis D and Organ Damage In Patients With Arterial Hypertension: A Multicenter Double Blind Randomised Controlled Trial of Cholecalciferol Supplementation (HYPODD): Study Design, Clinical Procedures and Treatment Protocol 21
Bone Turnover and the Osteoprotegerin-RANKL Pathway in Tumor-Induced Osteomalacia: A Longitudinal Study of Five Cases 21
A synaptobrevin-like gene in the Xq28 pseudoautosomal region undergoes X inactivation 21
Large Collaborative Study on Geographic Variation of SQSTM1 Mutations in Paget's Disease of Bone in Italy 20
Characterization of the murine orthologue of a novel human subtelomeric multigene family. 20
Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease. 20
Confirmation that Xq27 and Xq28 are susceptibility loci for migraine in independent pedigrees and a case-control cohort. 20
The molecular genetics of migraine: toward the identification of responsible genes 19
Comparison of intravenous and intramuscular neridronate regimens for the treatment of paget's disease of bone. 19
LONG TERM EFFECTS OF INTRAVENOUS BISPHOSPHONATES IN PAGET'S DISEASE OF BONE AND INTERACTION WITH SQSTM1 MUTATIONS 19
Investigation of GABA A receptors genes and migraine susceptibility 19
A DIAGNOSTIC MARKER FOR PAGET DISEASE 18
Paget's disease of bone in the Italian population: novel SQSTM1/p62 mutations and genotype-phenotype correlations 18
Recenti acquisizioni sulla eziopatogenesi della malattia ossea di Paget 18
X-linked familial typical migraine: genetic and physical refinement of the locus and molecular analysis of candidate genes. 17
Totale 3.638
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Categoria #
all - tutte 12.281
article - articoli 10.528
book - libri 129
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 22.938
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202463 0 0 0 0 0 0 0 0 6 0 5 52
2024/20251.421 8 8 117 49 298 25 8 88 48 87 355 330
2025/20262.228 118 270 211 312 403 65 321 111 108 154 155 0
Totale 3.712