CNR Institutional Research Information System

GIANFRANCESCO, FERNANDO
 Distribuzione geografica
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Continente #
AS - Asia 1.990
NA - Nord America 1.528
EU - Europa 580
SA - Sud America 356
AF - Africa 39
Continente sconosciuto - Info sul continente non disponibili 35
OC - Oceania 3
Totale 4.531
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Nazione #
US - Stati Uniti d'America 1.433
SG - Singapore 819
CN - Cina 417
BR - Brasile 283
IT - Italia 267
HK - Hong Kong 236
VN - Vietnam 174
FR - Francia 109
BD - Bangladesh 88
KR - Corea 80
NL - Olanda 49
JP - Giappone 40
CA - Canada 37
GB - Regno Unito 34
IN - India 30
DE - Germania 29
MX - Messico 21
EC - Ecuador 19
FI - Finlandia 19
AR - Argentina 18
CO - Colombia 16
SA - Arabia Saudita 16
ES - Italia 14
RU - Federazione Russa 13
ID - Indonesia 11
ZA - Sudafrica 11
IL - Israele 9
PH - Filippine 9
TR - Turchia 9
IQ - Iraq 8
EG - Egitto 7
PK - Pakistan 7
TH - Thailandia 7
JM - Giamaica 6
UA - Ucraina 6
HN - Honduras 5
MY - Malesia 5
PL - Polonia 5
PY - Paraguay 5
VE - Venezuela 5
AT - Austria 4
CH - Svizzera 4
GT - Guatemala 4
JO - Giordania 4
MA - Marocco 4
NI - Nicaragua 4
PE - Perù 4
RO - Romania 4
SV - El Salvador 4
UZ - Uzbekistan 4
AZ - Azerbaigian 3
CL - Cile 3
CR - Costa Rica 3
CZ - Repubblica Ceca 3
IE - Irlanda 3
PA - Panama 3
PT - Portogallo 3
AM - Armenia 2
AO - Angola 2
KE - Kenya 2
LT - Lituania 2
LV - Lettonia 2
MU - Mauritius 2
NP - Nepal 2
PR - Porto Rico 2
SE - Svezia 2
SN - Senegal 2
TT - Trinidad e Tobago 2
UY - Uruguay 2
AL - Albania 1
AU - Australia 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BF - Burkina Faso 1
BG - Bulgaria 1
CD - Congo 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
EE - Estonia 1
ET - Etiopia 1
GM - Gambi 1
GR - Grecia 1
GU - Guam 1
GY - Guiana 1
HT - Haiti 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
OM - Oman 1
PS - Palestinian Territory 1
SC - Seychelles 1
SI - Slovenia 1
SO - Somalia 1
SX - ???statistics.table.value.countryCode.SX??? 1
Totale 4.492
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Città #
Singapore 460
Santa Clara 320
Hong Kong 233
San Jose 176
Hefei 170
Ashburn 156
Beijing 100
Lauterbourg 83
Seoul 79
Los Angeles 61
Ho Chi Minh City 54
Assemini 51
Hanoi 38
New York 29
Milan 27
Naples 26
Tokyo 26
Buffalo 21
Dallas 18
Rome 17
Haiphong 15
São Paulo 13
Helsinki 12
Toronto 12
Da Nang 11
Marigliano 11
Minamishinagawa 11
Brasília 10
Florence 10
Phoenix 10
Brooklyn 9
Philadelphia 9
The Bronx 9
Atlanta 8
Biên Hòa 8
Chicago 8
Frankfurt am Main 8
Cairo 7
Düsseldorf 7
Figino 7
Orem 7
Riyadh 7
Belo Horizonte 6
Houston 6
Johannesburg 6
Lappeenranta 6
Nuremberg 6
Orlando 6
Porto Alegre 6
Thái Bình 6
Can Tho 5
Council Bluffs 5
Curitiba 5
Guayaquil 5
Plainfield 5
Portsmouth 5
Rio de Janeiro 5
Warsaw 5
Amsterdam 4
Baghdad 4
Bangkok 4
Bari 4
Bengaluru 4
Boardman 4
Bologna 4
Boston 4
Chennai 4
City of London 4
Dammam 4
Denver 4
Dhaka 4
Fortaleza 4
Genoa 4
Istanbul 4
Jeddah 4
Lebanon 4
Managua 4
Miami 4
Montreal 4
Tampa 4
Thái Nguyên 4
Washington 4
Ambato 3
Amman 3
Anápolis 3
Avellino 3
Bogotá 3
Campinas 3
Campo Grande 3
Charlotte 3
Dublin 3
Falkenstein 3
Georgetown 3
Guangzhou 3
Guarulhos 3
Guatemala City 3
Huế 3
Hyderabad 3
Jersey City 3
Joinville 3
Totale 2.592
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Nome #
Evidence for epistatic interaction between VDR and SLC13A2 genes in the pathogenesis of hypocitraturia in recurrent calcium oxalate stone formers. 120
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix. 94
Emergence of Talanin protein associated with human uric acid nephrolithiasis in the Hominidae lineage 81
Identification of sixteen novel candidate genes for late onset Parkinson's disease 80
Ruolo della Melatonina nelle Patologie Metaboliche osee 76
piR_015520 Belongs to Piwi-Associated RNAs Regulates Expression of the Human Melatonin Receptor 1A Gene 75
Effect of phytocannabinoids on androgen deprivation therapy in a high-fat diet-exacerbated prostate cancer 75
The Loss of Profilin 1 Causes Early Onset Paget's Disease of Bone 74
GENETIC-MAPPING OF A GENE ENCODING AN ATYPICAL PROTEIN-KINASE-C, PROTEIN-KINASE-C-LAMBDA, TO THE PROXIMAL REGION OF MOUSE CHROMOSOME-3 73
Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. 70
Identification and chromosomal localisation by fluorescence in situ hybridisation of human gene of phosphoinositide-specific phospholipase C beta 1 68
Modulation of endocannabinoid tone in osteoblastic differentiation of mc3t3-e1 cells and in mouse bone tissue over time 68
Profilin 1 deficiency drives mitotic defects and reduces genome stability 68
Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate. 68
The Sex Chromosomes: Sequence, Evolution and Human Diseases. In: The Human Genome: Features, Variations and Genetic Disorders 65
The distinct clinical features of giant cell tumor of bone in pagetic and non-pagetic patients are associated with genetic, biochemical and histological differences 65
The Osteoclast Traces the Route to Bone Tumors and Metastases 62
A non-synonymous TNFRSF11A variation increases NFkB activity and the severity of Paget's disease 61
The melatonin receptor 1a (MTNR1A) gene is associated with recurrent and idiopathic calcium nephrolithiasis 61
The two faces of giant cell tumor of bone 60
ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology 59
Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 59
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. 57
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 56
ZNF687 mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone. 56
Escape from X inactivation of two new genes associated with DXS6974E and DXS7020E 54
Dysregulation of the Expression of Asparagine-Linked Glycosylation 13 Short Isoform 2 Affects Nephrin Function by Altering Its N-Linked Glycosylation. 54
Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density. 54
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 54
Early Alpine occupation backdates westward human migration in Late Glacial Europe 54
A non-synonymous TNFRSF11A variation increases NFkB activity and the severity of Paget's disease. 52
Effect of genetic variants of OPTN in the pathophysiology of Paget's disease of bone. 52
Novel autophagic vacuolar myopathies: Phenotype and genotype features 52
Epidemiological, clinical, and genetic characteristics of Paget's disease of bone in a rural area of Calabria, Southern Italy 51
Mesenchymal Stromal Cells: from Bone Marrow to Neoplastic Disorders 51
Vitamin D Receptor Gene Polymorphisms Predict Acquired Resistance to Clodronate Treatment in Patients with Paget Disease of Bone 50
A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere 50
Early posterior vitreous detachment is associated with LAMA5 dominant mutation 48
Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region 48
Molecular Genetics of Paget's Disease of Bone 47
DDX11L: a novel transcript family emerging from human subtelomeric regions 47
Differential divergence of three human pseudoautosomal genes and their mouse homologs: implications for sex chromosome evolution. 46
Ogliastra Project: Population, Methodology and Results. 46
Geographic distribution of Ala62Thr variant associated to Uric Acid Nephrolithiasis in Sub-Saharan and Mediterranean area 45
ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations 42
Giant cell tumor occurring in familial Paget's disease of bone: report of clinical characteristics and linkage analysis of a large pedigree. 42
Autosomal dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation. 42
Identification of a susceptibility gene for uric acid kidney stones. 42
From sequence analysis to diseases identification in the distal human xq28 41
Clinical characteristics and evolution of giant cell tumor occurring in paget's disease of bone. 41
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship. 40
Genes, Diet and Uric Acid Nephrolithiasis 40
A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease 40
A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene 40
Genomic rearrangement in NEMO impairs NF-KAPPAB activation and is a cause of incontinentia pigmenti 39
Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN. 39
Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. 39
A functional allelic variant of the FGF23 gene is associated with renal phospate leak in calcium nephrolithiasis. 38
SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone 37
4. Molecular cloning and fine mapping of API5L1, a novel human gene strongly related to an antiapoptotic gene 36
Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts 35
Concerted evolution in mammals of Talanin and uricase genes 35
ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor. 34
De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia 34
Identification of a novel candidate gene, CASC2, in a region of common allelic loss at chromosome 10q26 in human endometrial cancer. 33
ATP1A2 gene mutations are not present in two sisters with basilar-type migraine associated with menses 33
FSHR gene polymorphisms influence bone mineral density and bone turnover in postmenopausal women 33
De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia. 32
Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility 31
Genetic variants of Y chromosome are associated with a protective lipid profile in black men 31
Paget's disease of bone: epidemiology, pathogenesis and pharmacotherapy 31
Multifactorial disorder: molecular and evolutionary insights of uric acid nephrolithiasis 30
ADAR2 induces the differentiation of osteosarcoma cells by editing activity on IGFBP7: new implications for therapy 30
Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population. 30
I cromosomi sessuali umani: origine ed evoluzione 29
LONG TERM EFFECTS OF INTRAVENOUS BISPHOSPHONATES IN PAGET'S DISEASE OF BONE AND INTERACTION WITH SQSTM1 MUTATIONS 29
Investigation of Gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility 29
The evolutionary conservation of the human chitotriosidase gene in rodents and primates. 29
Mapping of 59 EST gene markers in 31 intervals spanning the human X chromosome 28
Association between the T239M missense variation in the FGF23 gene and renal phosphate leak 27
A synaptobrevin-like gene in the Xq28 pseudoautosomal region undergoes X inactivation 26
The Melatonin Receptor 1A Gene (MTNR1A) Is Associated With Kidney Stones 25
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 25
Bone Turnover and the Osteoprotegerin-RANKL Pathway in Tumor-Induced Osteomalacia: A Longitudinal Study of Five Cases 25
Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease. 25
Diagnostic and therapeutic means for kidney stone related pathologies 25
Comparison of intravenous and intramuscular neridronate regimens for the treatment of paget's disease of bone. 25
Glutamate Receptor Subunit 3 and Migraine Susceptibility 24
Large Collaborative Study on Geographic Variation of SQSTM1 Mutations in Paget's Disease of Bone in Italy 24
Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function 24
Large Collaborative Study on Geographic Variation of SQSTM1 Mutations in Paget's Disease of Bone in Italy 23
Association of a GRIA3 Gene Polymorphism With Migraine in an Australian Case-Control Cohort. 23
Confirmation that Xq27 and Xq28 are susceptibility loci for migraine in independent pedigrees and a case-control cohort. 23
Characterization of the murine orthologue of a novel human subtelomeric multigene family. 22
A new gene encodes a putative GTP-binding protein, escapes X-inactivation and has related sequences on Y chromosome. 22
LONG TERM EFFECTS OF INTRAVENOUS BISPHOSPHONATES IN PAGET'S DISEASE OF BONE AND INTERACTION WITH SQSTM1 MUTATIONS 22
Genes, Human Disease and Genome Evolution in the Post-Genomic Era: Insights from Uric Acid Nephrolithiasis 21
X-linked familial typical migraine: genetic and physical refinement of the locus and molecular analysis of candidate genes. 21
Paget's disease of bone in the Italian population: novel SQSTM1/p62 mutations and genotype-phenotype correlations 21
Investigation of GABA A receptors genes and migraine susceptibility 21
Totale 4.434
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Categoria #
all - tutte 15.742
article - articoli 13.554
book - libri 151
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 29.447
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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
2025/20262.390 118 270 211 312 403 65 321 111 108 154 182 135
2026/2027657 210 138 309 0 0 0 0 0 0 0 0 0
Totale 4.531