CINECA IRIS Institutional Research Information System

MIGONE, Nicola
 Distribuzione geografica
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Continente #
NA - Nord America 2.674
EU - Europa 2.603
AS - Asia 1.074
AF - Africa 6
SA - Sud America 6
Continente sconosciuto - Info sul continente non disponibili 2
OC - Oceania 2
Totale 6.367
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Nazione #
US - Stati Uniti d'America 2.620
IT - Italia 726
CN - Cina 507
SE - Svezia 315
UA - Ucraina 287
DE - Germania 252
IE - Irlanda 245
JP - Giappone 190
FR - Francia 188
FI - Finlandia 164
SG - Singapore 148
KR - Corea 132
GB - Regno Unito 126
AT - Austria 102
PL - Polonia 57
CA - Canada 53
VN - Vietnam 41
IN - India 27
ES - Italia 21
NL - Olanda 21
BE - Belgio 20
RU - Federazione Russa 20
GR - Grecia 15
HK - Hong Kong 11
RO - Romania 11
CH - Svizzera 7
DK - Danimarca 7
IL - Israele 7
NO - Norvegia 4
BR - Brasile 3
HU - Ungheria 3
MU - Mauritius 3
SK - Slovacchia (Repubblica Slovacca) 3
AU - Australia 2
CL - Cile 2
CZ - Repubblica Ceca 2
EU - Europa 2
MV - Maldive 2
MY - Malesia 2
PT - Portogallo 2
TR - Turchia 2
TW - Taiwan 2
BG - Bulgaria 1
CI - Costa d'Avorio 1
HR - Croazia 1
ID - Indonesia 1
IS - Islanda 1
MX - Messico 1
NG - Nigeria 1
PE - Perù 1
RS - Serbia 1
SA - Arabia Saudita 1
SI - Slovenia 1
SN - Senegal 1
TH - Thailandia 1
Totale 6.367
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Città #
Chandler 450
Beijing 389
Dublin 243
Jacksonville 142
Houston 140
Villeurbanne 112
Singapore 105
Vienna 101
Ann Arbor 98
Ashburn 89
Dearborn 88
Medford 82
Nyköping 80
Princeton 75
Milan 68
Wilmington 59
Fairfield 54
Torino 51
Warsaw 51
Fremont 43
Woodbridge 41
Boardman 32
Redwood City 32
Rome 31
Seattle 31
Boston 30
Dong Ket 27
Cambridge 22
Toronto 22
Guangzhou 21
Santa Clara 19
Verona 18
Munich 15
Florence 14
Helsinki 14
Naples 14
Brussels 13
Nanjing 13
Pisa 13
Catania 12
Ottawa 12
Turin 11
Falls Church 10
Hefei 9
Isernia 9
Lachine 9
Norwalk 9
Shanghai 9
Washington 9
Bari 8
Los Angeles 8
Mountain View 8
Padova 8
Paris 8
Jinan 7
Kunming 7
San Diego 7
Andover 6
Chicago 6
Detroit 6
Düsseldorf 6
Hong Kong 6
London 6
Pune 6
Rotterdam 6
Auburn Hills 5
Dallas 5
Des Moines 5
Hangzhou 5
Pescara 5
Vigliano Biellese 5
Wuhan 5
Barcelona 4
Berlin 4
Brescia 4
Cagliari 4
Castellammare di Stabia 4
Ferrara 4
Fuzhou 4
New York 4
Nürnberg 4
Phoenix 4
San Mateo 4
Scuola 4
Tokyo 4
Tübingen 4
Amsterdam 3
Athens 3
Budapest 3
Changsha 3
Chatsworth 3
Cluj 3
Eitensheim 3
Genoa 3
Jesi 3
Kharkiv 3
Lumezzane 3
Lyndhurst 3
Lüneburg 3
Moscow 3
Totale 3.283
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Nome #
Un caso di inv dup del(9p) con sex-reversal e cardiopatia congenita 651
GERMLINE PROKINETICIN RECEPTOR 2 (PROKR2) VARIANTS ASSOCIATED WITH CENTRAL HYPOGONADISM CAUSE DIFFERENTAL MODULATION OF DISTINCT INTRACELLULAR PATHWAYS. 485
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy 303
Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions. 267
The SH3 domains of endophilin and amphiphysin bind to the proline-rich region of synaptojanin 1 at distinct sites that display an unconventional binding specificity 122
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH) 117
A Genome-wide Expression profiling to unravel effect of missense mutations in SCA28 patients 110
Family studies and HLA typing in ankylosing spondylitis and sacroiliitis 106
Bf polymorphism and ankylosing spondylitis 104
Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes 103
A previously undiagnosed case of GERSTMANN-STRÄUSSLER-SCHEINKER disease revealed by PRNP gene analysis in patients with adult-onset ataxia 99
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations 98
An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene 97
The Tuberous Sclerosis Complex 97
A "Position Effect” Involved In The Pathogenesis Of Autosomal Dominant Leukodystrophy Linked To Chromosome 5q21-q23 In An Italian Family 97
A novel SH3-containing human gene family preferentially expressed in the central nervous system 94
Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay 94
An alternative approach to the assessment of gamma delta T-cell clonality in celiac disease intestinal lesions through cDNA heteroduplex analysis of T-cell receptor VJ junctions 93
Pulsed-field gel analysis of human immunoglobulin heavy-chain constant region gene deletions reveals the extent of unmapped regions within the locus. 91
T cell receptor heterogeneity in gamma delta T cell clones from intestinal biopsies of patients with celiac disease 89
Molecular genetic analysis of von Hippel-Lindau disease by denaturing high-performance liquid chromatography. 89
“A de novo X;8 translocation in a patient with psychomotor retardationand congenital cerebellar hypoplasia creates a PTK2-THOC2 fusion gene and knocks down THOC2 expression by transcriptional interference” 88
A large TSC2 and PKD1 gene deletion is associated with renal and extra-renal signs of the autosomal dominant polycystic kidney disease. 86
A tuberous sclerosis patient with a large TSC2 and PKD1 gene deletion shows extrarenal signs of autosomal dominant polycystic kidney disease 85
Genotypic characterization of common acute lymphoblastic leukemia may improve the phenotypic classification. 85
ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions 85
CNV analysis in 169 patients with bladder exstrophy-epispadias complex 84
Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas. 81
T cell receptor V delta 2-C alpha transcripts are present in the thymus but virtually absent in the periphery. 80
Spinocerebellar ataxia type 12 identified in two italian families may mimic sporadic ataxia 80
Chronic T-cell leukaemias. A variant of T-prolymphocytic leukaemias: morphological, immunological and clinical characterization of 2 cases 77
Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay 77
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment 76
Mitochondrial DNA polymorphism in four Sardinian villages 76
Different stages of B cell differentiation in non-T acute lymphoblastic leukemia 75
Mutation analysis of the MSH6 gene in 52 MLH1/MSH2-negative, HNPCC suspect Italian patients 73
Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia. 73
Delezione del gene ASTN2 (Astroactin-2), coinvolto nella migrazione neuronale, in due sorelle con ritardo psicomotorio 71
Treatment of the pulmonary involvement in the patient with tuberous sclerosis complex. 69
Tuberous sclerosis 67
Analisi array-CGH e riarrangiamenti genomici a mosaico 66
A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA. 64
Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias 64
Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy 63
Spinocerebellar ataxia type 12 identified in two Italian families 63
Genotype, phenotype and hormonal levels correlation in nonclassical congenital adrenal hyperplasia 63
Labiopalatoschisi ed esadattilia bilaterale della mano associate ad una doppia delezione de novo sul cromosoma 4q32 e 4q34 che coinvolgono I geni PDGFC e FBXO8 63
TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences and location within the gene 61
Blood Cell Mitochondrial DNA Content and Premature Ovarian Aging. 61
[Prenatal diagnosis. Indications and risks of early amniocentesis by placental puncture and fetoscopy] 60
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families 60
Large Genomic Mutations within the ATM Gene Detected by MLPA, Including a Duplication of 41 kb from Exon 4 to 20 59
The endophilin-CIN85-Cbl complex mediates ligand-dependent downregulation of c-Met. 57
Multiple gene deletions within the human immunoglobulin heavy-chain cluster. 56
Genetic analysis of eight linked polymorphisms within the human immunoglobulin heavy-chain region 55
Multiple DNA fragment polymorphisms associated with immunoglobulin mu chain switch-like regions in man 53
Monosomia 10q26.3 e 18q22.3-q23 e trisomia 18q21.33q22.3 de novo in una paziente affetta da ritardo mentale e dismorfismi facciali 51
TREATMENT OF THE PULMONARY INVOLVEMENT IN THE PATIENT WITH TUBEROUS SCLEROSIS COMPLEX 48
Mutations in the lamin B1 gene are not present in multiple sclerosis 47
Selection by two powerful antigens may account for the presence of the major population of human peripheral gamma/delta T cells. 46
Juvenile vertebrobasilar ischaemic stroke in a patient with Camurati-Engelmann disease 45
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2 45
Ontogeny, gene rearrangements and immunophenotype of acute leukaemias. 43
Clonal expansions of V delta 1+ and V delta 2+ cells increase with age and limit the repertoire of human gamma delta T cells 43
Restriction of the T-cell receptor V delta gene repertoire is due to preferential rearrangement and is independent of antigen selection 42
FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia 42
The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermia 41
High prevalence of T-cell receptor V delta 2-(D)-D delta 3 or D delta 1/2-D delta 3 rearrangements in B-precursor acute lymphoblastic leukemias 40
Phenotypic, cytogenetic and molecular characterization of a new B-chronic lymphocytic leukaemia (B-CLL) cell line 38
Heteroduplex analysis of T-cell receptor gamma gene rearrangements for diagnosis and monitoring of cutaneous T-cell lymphomas 37
Deficit di PAPP-A in gravidanza, fenotipo Cornelia De Lange e riarrangiamenyo genomico da traslocazione reciproca 34
Intractable epilepsy in hemimegalencephaly and tuberous sclerosis complex 33
Molecular analysis of human gamma/delta+ clones from thymus and peripheral blood 33
Tuberous sclerosis complex: neonatal deaths in three of four children of consanguineous, non-expressing parents 33
Totale 6.603
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Categoria #
all - tutte 18.176
article - articoli 0
book - libri 0
conference - conferenze 3.174
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 21.350
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020759 0 0 63 59 55 191 105 28 66 92 62 38
2020/2021650 60 31 54 42 64 27 82 9 98 60 53 70
2021/2022947 24 26 31 139 40 42 33 39 41 91 249 192
2022/20231.340 135 96 31 147 120 307 101 98 173 28 49 55
2023/2024548 74 91 38 34 24 67 13 42 0 34 49 82
2024/2025175 30 126 19 0 0 0 0 0 0 0 0 0
Totale 6.603