Catalogo dei prodotti della ricerca

PIANE, Maria
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 2.273
EU - Europa 1.524
AS - Asia 528
AF - Africa 45
SA - Sud America 24
Continente sconosciuto - Info sul continente non disponibili 1
OC - Oceania 1
Totale 4.396
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 2.252
IT - Italia 857
SG - Singapore 272
UA - Ucraina 160
SE - Svezia 145
IN - India 132
FI - Finlandia 107
CN - Cina 90
IE - Irlanda 70
TG - Togo 43
GB - Regno Unito 42
DE - Germania 39
FR - Francia 28
BE - Belgio 25
ID - Indonesia 24
NL - Olanda 24
AR - Argentina 20
CA - Canada 14
BG - Bulgaria 12
MX - Messico 7
RO - Romania 5
TR - Turchia 5
CH - Svizzera 3
RU - Federazione Russa 3
CL - Cile 2
CZ - Repubblica Ceca 2
HK - Hong Kong 2
ZA - Sudafrica 2
AU - Australia 1
BD - Bangladesh 1
BR - Brasile 1
EC - Ecuador 1
EU - Europa 1
IR - Iran 1
NO - Norvegia 1
PL - Polonia 1
TH - Thailandia 1
Totale 4.396
Salva come PNG Salva come JPEG
Città #
Fairfield 246
Rome 221
Singapore 210
Chandler 205
Ann Arbor 149
Woodbridge 139
Ashburn 129
Houston 111
Seattle 97
Wilmington 94
Princeton 83
Cambridge 82
Dublin 68
Jacksonville 66
Plano 61
Santa Clara 57
Milan 53
Helsinki 49
Beijing 47
Lomé 43
Boston 37
Millbury 33
San Paolo di Civitate 33
Lawrence 31
Dearborn 26
New York 26
San Diego 25
Jakarta 24
Andover 22
Boardman 20
Des Moines 19
Federal 19
Brussels 15
Naples 14
Padova 13
Sofia 12
Toronto 12
Bergamo 10
Waanrode 10
Falls Church 9
Bühl 8
Florence 8
San Mateo 8
Bremen 7
Fremont 7
Bari 6
Brescia 6
Genoa 6
London 6
Los Angeles 6
Norwalk 6
Reggio Calabria 6
Burnham-on-Crouch 5
Falkenstein 5
Hefei 5
Istanbul 5
Lappeenranta 5
Matera 5
Mexico City 5
Nanjing 5
Osio Sotto 5
Shanghai 5
Torino 5
Catania 4
Formello 4
Kunming 4
Livorno 4
Marigliano 4
Modena 4
Palermo 4
Paris 4
Parma 4
Adelfia 3
Auburn Hills 3
Brembate di Sopra 3
Brugherio 3
Cerredolo 3
Cortona 3
Enna 3
Francavilla al Mare 3
Mondragone 3
Pavia 3
Pisa 3
Ponte San Pietro 3
Pune 3
Ronco all'Adige 3
San Francisco 3
Saronno 3
Schio 3
Stuttgart 3
Afragola 2
Aversa 2
Cachan 2
Capri 2
Cassano Magnago 2
Cremona 2
Crick 2
Ferrara 2
Ferrara di Monte Baldo 2
Formia 2
Totale 2.865
Salva come PNG Salva come JPEG
Nome #
Nuove mutazioni del gene SETX in pazienti affetti da atassia con Aprassia Oculomotoria di tipo 2 (AOA2) 351
Caratterizzazione molecolare di pazienti italiani affetti da Atassia con Aprassia Oculomotoria di tipo 1 (AOA1) 134
A next-generation sequencing approach to identify gene mutations in early-and late-onset hypertrophic cardiomyopathy patients of an Italian cohort 105
Ataxia with oculomotor apraxia type 2: a clinical, pathologic and genetic study. 100
Cutaneous Venous Malformations Related to KRIT1 Mutation: Case Report and Literature Review 99
Beyond BRCA1 and BRCA2: deleterious variants in DNA repair pathway genes in italian families with breast/ovarian and pancreatic cancers 92
Cytotoxic T lymphocyte antigen 4 polymorphism 49 (A>G) and migraine. 91
Control of cell respiration by nitric oxide in Ataxia Telangiectasia lymphoblastoid cells 86
Mre11 mutations and impaired ATM-dependent responses in an Italian family with ataxia telangiectasia-like disorder 80
Genetics of migraine and pharmacogenomics: Some considerations 79
Impact of the COVID-19 Pandemic on Clinical Pathways for Non-SARS-CoV-2 Related Diseases in the Lazio Region, Italy 78
Different clinical and immunological presentation of ataxia-telangiectasia within the same family 73
Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders 71
NUOVA MUTAZIONE DEL GENE NOTCH3 IN UN PAZIENTE ITALIANO CON CADASIL 68
ANALISI DI MUTAZIONE DEI GENI BRCA1/2 IN FAMIGLIE CON TUMORE DELLA MAMMELLA EREDITARIO 68
Role of senataxin in DNA damage and telomeric stability 66
Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes. An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group 65
Impact of Cystic Fibrosis Transmembrane Regulator (CFTR) gene mutations on male infertility. 64
Modulation of hypersensitivity to oxidative DNA damage in ATM defective cells induced by potassium bromate by inhibition of the poly (ADP-ribose) polymerase (PARP) 64
Phenotype Expression in a Case of Adult Cystic Fibrosis Caused by an Extremely Rare Compound Heterozygous Genotype (2183AA > G/2789+5G > A) 63
Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays 62
Control of mitochondrial respiration by nitric oxide in Ataxia Telangeictasia cells 61
Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia. 60
A CASE OF ADULT CYSTIC FIBROSIS DUE TO EXTREMELY RARE COMPOUND HETEROZIGOUS MUTATION: PHENOTYPE AND POSSIBLE ASSOCIATION WITH GASTROINTESTINAL DAMAGE. 59
From Survey Results to a Decision-Making Matrix for Strategic Planning in Healthcare: The Case of Clinical Pathways 59
Microdelezione del cromosoma Y in soggetti con oligo/azoospermia idiopatica 58
Risk stratification in hypertrophic cardiomyopathy. Insights from genetic analysis and cardiopulmonary exercise testing 56
Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia 55
hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense;mediated mRNA decay 55
Il ruolo dell’Apratassina (APTX) nel riparo delle rotture del DNA a singolo filamento 54
Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene 54
CARATTERIZZAZIONE DI MUTAZIONI CON EFFETTO DEL FONDATORE IN PAZIENTI ITALIANI AFFETTI DA ATASSIA-TELANGIECTASIA 53
Alleli HLA e predisposizione all'osteoporosi nei maschi 53
Variable number of tandem repeats in zygosity diagnosis in twins. 53
THE ROLE OF ATM IN MONITORING THE INTEGRITY OF MITOTIC SPINDLE 52
Altered NK-cell compartment and dysfunctional NKG2D/NKG2D-ligand axis in patients with ataxia-telangiectasia 52
A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome 51
Caratterizzazione molecolare di pazienti italiani affetti da Atassia con Aprassia Oculomotoria di tipo 1 (AOA1) 51
Nitric oxide, mithocondria and Ataxia Telangiectasia. 49
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy 48
THE ROLE OF APRATAXIN (APTX) IN THE DNA SINGLE STRAND BREAK REPAIR 48
p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes 48
Comet Assay nello studio della radiosensibilità in pazienti con Atassia Telangiectasia (AT), Atassia Telangiectasia Variante (ATLD) e Nijmegen Breakage Sindrome (NBS). 48
REVIEW DELLE METODICHE DI DIAGNOSI IN AT 46
Cytogenetics response of ATM defective cells to oxidative damage 44
The novel human gene Aprataxin is directly involved in the DNA Single Strand Break Repair Complex 44
Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of the PCNT gene 44
Rna sequencing of primary cutaneous and breast-implant associated anaplastic large cell lymphomas reveals infrequent fusion transcripts and upregulation of PI3K/AKT signaling via neurotrophin pathway genes 44
Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer 43
Studio preliminare sull’influenza del gene ESR1 alpha nell’osteoporosi primaria e secondaria ad artrite reumatoide 42
. Il ruolo dell’apratassina (APTX) nel riparo delle rotture del dna a singolo filamento 41
Genotype-Phenotype Correlations in Monogenic Parkinson Disease. A Review on Clinical and Molecular Findings 41
HLA alleles and susceptibility to osteoporosis in men 40
Identificazione di mutazioni nel gene hMRE11 in pazienti ATLD con Atassia senza Telangectasia 38
Mutation of the ATM gene in Italy recovered through different methodological approaches 38
CYTOGENETIC EVIDENCE OF THE ROLE OF APRATAXIN IN DNA SINGLE STRAND BREAK REPAIR. 38
A novel c.952T>C mutation in Notch3 gene in a patient with chronic non-migraine-like headache. Expanding the genotypic spectrum of CADASIL? 38
ENIGMA CHEK2gether Project. A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk 36
Aprataxin Mutations in Italian Patients with Ataxia and Oculomotor Apraxia (AOA) 36
Genotype-phenotype relationships in Ataxia-Telangiectasia (A-T) and A-T variants 36
COMET ASSAY NELLO STUDIO DELLA RADIOSENSIBILITÀ IN PAZIENTI CON ATASSIA TELANGIECTASIA(AT), ATASSIA TELANGIECTASIA VARIANTE (ATLD) E NIJMEGEN BREAKAGE SINDROME (NBS) 36
Novel and recurrent mutations in the ATM gene in Italian patients with classical Ataxia Telangiectasia 36
Complete pseudo-anodontia in an adult woman with pseudo-hypoparathyroidism type 1a: a new additional nonclassical feature? 35
Long QTc in hypertrophic cardiomyopathy. A consequence of structural myocardial damage or a distinct genetic disease? 34
Clinical and cellular phenotype of two Italian sibs with ATLD 34
Proneness to cancer in italian Ataxia telangiectasia families 34
Cutaneous venous malformation due to krit1 mutation: a case report 33
Founder Effects for ATM Gene Mutations in Italian Ataxia Telangiectasia Families 32
Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia-Telangiectasia Mutated Gene 30
Una nuova mutazione del gene PCNT in un paziente italiano con sindrome di Seckel 29
M. Piane, C. Savio, A. Altigeri, R. Pusateri, F.Ferrari, N. Pasquale, M.T. Contestabile, L. Chessa 29
Common and private mutations of the ATM gene in Italy 24
NUOVA MUTAZIONE DEL GENE NOTCH3 IN UN PAZIENTE ITALIANO CON CADASIL 24
DNA SINGLE STRAND BREAKS AND NEURODEGENERATION. THE ROLE OF APRATAXIN (APTX) AND SENATAXIN (SETX). 22
TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report 22
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility 21
Somatic NGS Analysis of DNA Damage Response (DDR) Genes ATM, MRE11A, RAD50, NBN, and ATR in Locally Advanced Rectal Cancer Treated with Neoadjuvant Chemo-Radiotherapy 21
Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors 20
Whole-exome and transcriptome sequencing expands the genotype of Majewski osteodysplastic primordial dwarfism type II 20
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: Fourteen novel ATM mutations 20
The role of genetic testing in suspected fulminant myocarditis: a case report 20
Seminological, hormonal and ultrasonographic features of male factor infertility due to genetic causes: results from a large monocentric retrospective study 19
null 19
L’ATASSIA TELANGIECTASIA IN ITALIA 16
Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease 15
Fenotipo clinico e cellulare di una fratria con ATLD (Ataxia Telangiectasia-Like Disorder) 14
null 13
Prenatal CFAP53-related laterality defect: case report and review of the literature 11
Unveiling the spectrum of minor genes in cardiomyopathies: a narrative review 11
Re-analysis of next-generation sequencing data in patients with hypertrophic cardiomyopathy: contribution of spliceogenic MYBPC3 variants in an italian cohort 9
Identification of a false-positive multiplex ligationdependent probe amplification result in BRCA1 using a copy number variation algorithm under development for a commercial next-generation sequencing-based homologous recombination deficiency assay 8
Totale 4.536
Salva come PNG Salva come JPEG
Categoria #
all - tutte 14.478
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 14.478
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020382 0 0 0 0 0 76 61 81 48 50 51 15
2020/2021292 31 35 9 34 15 31 5 29 16 57 24 6
2021/2022688 7 47 59 26 95 14 28 63 62 62 85 140
2022/2023972 160 161 59 63 94 102 15 63 131 27 57 40
2023/2024729 43 70 46 84 97 83 47 70 2 74 64 49
2024/2025570 57 130 136 84 75 88 0 0 0 0 0 0
Totale 4.536