Catalogo dei prodotti della ricerca

PIANE, Maria
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 2.191
EU - Europa 1.399
AS - Asia 417
AF - Africa 45
SA - Sud America 23
Continente sconosciuto - Info sul continente non disponibili 1
OC - Oceania 1
Totale 4.077
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 2.173
IT - Italia 775
SG - Singapore 200
UA - Ucraina 160
SE - Svezia 145
IN - India 132
FI - Finlandia 95
CN - Cina 76
IE - Irlanda 65
TG - Togo 43
GB - Regno Unito 40
DE - Germania 31
FR - Francia 26
BE - Belgio 22
AR - Argentina 19
NL - Olanda 18
BG - Bulgaria 12
CA - Canada 11
MX - Messico 7
RO - Romania 5
TR - Turchia 5
CL - Cile 2
HK - Hong Kong 2
ZA - Sudafrica 2
AU - Australia 1
BD - Bangladesh 1
BR - Brasile 1
CH - Svizzera 1
CZ - Repubblica Ceca 1
EC - Ecuador 1
EU - Europa 1
IR - Iran 1
NO - Norvegia 1
PL - Polonia 1
RU - Federazione Russa 1
Totale 4.077
Salva come PNG Salva come JPEG
Città #
Fairfield 246
Chandler 205
Rome 199
Ann Arbor 149
Singapore 139
Woodbridge 139
Ashburn 125
Houston 111
Seattle 97
Wilmington 94
Princeton 83
Cambridge 82
Jacksonville 66
Dublin 63
Plano 61
Milan 50
Beijing 47
Lomé 43
Helsinki 38
Boston 37
Millbury 33
San Paolo di Civitate 33
Lawrence 31
Dearborn 26
New York 26
San Diego 25
Andover 22
Des Moines 19
Federal 19
Santa Clara 16
Naples 14
Boardman 13
Brussels 12
Sofia 12
Bergamo 10
Waanrode 10
Falls Church 9
Padova 9
Toronto 9
Bühl 8
San Mateo 8
Bremen 7
Fremont 7
Brescia 6
Florence 6
Genoa 6
Norwalk 6
Burnham-on-Crouch 5
Hefei 5
Istanbul 5
London 5
Matera 5
Mexico City 5
Nanjing 5
Osio Sotto 5
Torino 5
Bari 4
Catania 4
Formello 4
Kunming 4
Lappeenranta 4
Livorno 4
Los Angeles 4
Marigliano 4
Modena 4
Palermo 4
Paris 4
Reggio Calabria 4
Shanghai 4
Adelfia 3
Auburn Hills 3
Brembate di Sopra 3
Brugherio 3
Cerredolo 3
Cortona 3
Enna 3
Francavilla al Mare 3
Mondragone 3
Pisa 3
Ponte San Pietro 3
Pune 3
Ronco all'Adige 3
San Francisco 3
Schio 3
Stuttgart 3
Aversa 2
Cachan 2
Capri 2
Cassano Magnago 2
Cremona 2
Crick 2
Ferrara 2
Ferrara di Monte Baldo 2
Formia 2
Frosinone 2
Galatina 2
Giugliano in Campania 2
Grafing 2
Grosseto 2
Guidonia Montecelio 2
Totale 2.651
Salva come PNG Salva come JPEG
Nome #
Nuove mutazioni del gene SETX in pazienti affetti da atassia con Aprassia Oculomotoria di tipo 2 (AOA2) 317
Caratterizzazione molecolare di pazienti italiani affetti da Atassia con Aprassia Oculomotoria di tipo 1 (AOA1) 121
A next-generation sequencing approach to identify gene mutations in early-and late-onset hypertrophic cardiomyopathy patients of an Italian cohort 100
Ataxia with oculomotor apraxia type 2: a clinical, pathologic and genetic study. 98
Cutaneous Venous Malformations Related to KRIT1 Mutation: Case Report and Literature Review 94
Cytotoxic T lymphocyte antigen 4 polymorphism 49 (A>G) and migraine. 89
Beyond BRCA1 and BRCA2: deleterious variants in DNA repair pathway genes in italian families with breast/ovarian and pancreatic cancers 82
Control of cell respiration by nitric oxide in Ataxia Telangiectasia lymphoblastoid cells 81
Mre11 mutations and impaired ATM-dependent responses in an Italian family with ataxia telangiectasia-like disorder 80
Genetics of migraine and pharmacogenomics: Some considerations 75
Different clinical and immunological presentation of ataxia-telangiectasia within the same family 73
Impact of the COVID-19 Pandemic on Clinical Pathways for Non-SARS-CoV-2 Related Diseases in the Lazio Region, Italy 71
Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders 69
NUOVA MUTAZIONE DEL GENE NOTCH3 IN UN PAZIENTE ITALIANO CON CADASIL 68
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
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 63
Role of senataxin in DNA damage and telomeric stability 62
Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays 61
Impact of Cystic Fibrosis Transmembrane Regulator (CFTR) gene mutations on male infertility. 60
Control of mitochondrial respiration by nitric oxide in Ataxia Telangeictasia cells 59
Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia. 59
Phenotype Expression in a Case of Adult Cystic Fibrosis Caused by an Extremely Rare Compound Heterozygous Genotype (2183AA > G/2789+5G > A) 58
ANALISI DI MUTAZIONE DEI GENI BRCA1/2 IN FAMIGLIE CON TUMORE DELLA MAMMELLA EREDITARIO 58
Microdelezione del cromosoma Y in soggetti con oligo/azoospermia idiopatica 57
A CASE OF ADULT CYSTIC FIBROSIS DUE TO EXTREMELY RARE COMPOUND HETEROZIGOUS MUTATION: PHENOTYPE AND POSSIBLE ASSOCIATION WITH GASTROINTESTINAL DAMAGE. 56
From Survey Results to a Decision-Making Matrix for Strategic Planning in Healthcare: The Case of Clinical Pathways 55
Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia 54
hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense;mediated mRNA decay 54
Il ruolo dell’Apratassina (APTX) nel riparo delle rotture del DNA a singolo filamento 53
Risk stratification in hypertrophic cardiomyopathy. Insights from genetic analysis and cardiopulmonary exercise testing 53
Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene 52
CARATTERIZZAZIONE DI MUTAZIONI CON EFFETTO DEL FONDATORE IN PAZIENTI ITALIANI AFFETTI DA ATASSIA-TELANGIECTASIA 51
Alleli HLA e predisposizione all'osteoporosi nei maschi 51
Variable number of tandem repeats in zygosity diagnosis in twins. 51
Caratterizzazione molecolare di pazienti italiani affetti da Atassia con Aprassia Oculomotoria di tipo 1 (AOA1) 50
Altered NK-cell compartment and dysfunctional NKG2D/NKG2D-ligand axis in patients with ataxia-telangiectasia 50
THE ROLE OF ATM IN MONITORING THE INTEGRITY OF MITOTIC SPINDLE 49
p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes 48
Nitric oxide, mithocondria and Ataxia Telangiectasia. 47
THE ROLE OF APRATAXIN (APTX) IN THE DNA SINGLE STRAND BREAK REPAIR 46
Comet Assay nello studio della radiosensibilità in pazienti con Atassia Telangiectasia (AT), Atassia Telangiectasia Variante (ATLD) e Nijmegen Breakage Sindrome (NBS). 46
A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome 45
REVIEW DELLE METODICHE DI DIAGNOSI IN AT 45
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
Cytogenetics response of ATM defective cells to oxidative damage 43
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy 42
Studio preliminare sull’influenza del gene ESR1 alpha nell’osteoporosi primaria e secondaria ad artrite reumatoide 42
Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer 39
Identificazione di mutazioni nel gene hMRE11 in pazienti ATLD con Atassia senza Telangectasia 38
. Il ruolo dell’apratassina (APTX) nel riparo delle rotture del dna a singolo filamento 38
HLA alleles and susceptibility to osteoporosis in men 37
A novel c.952T>C mutation in Notch3 gene in a patient with chronic non-migraine-like headache. Expanding the genotypic spectrum of CADASIL? 37
Mutation of the ATM gene in Italy recovered through different methodological approaches 36
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 36
Genotype-phenotype relationships in Ataxia-Telangiectasia (A-T) and A-T variants 35
CYTOGENETIC EVIDENCE OF THE ROLE OF APRATAXIN IN DNA SINGLE STRAND BREAK REPAIR. 35
Novel and recurrent mutations in the ATM gene in Italian patients with classical Ataxia Telangiectasia 35
Aprataxin Mutations in Italian Patients with Ataxia and Oculomotor Apraxia (AOA) 34
COMET ASSAY NELLO STUDIO DELLA RADIOSENSIBILITÀ IN PAZIENTI CON ATASSIA TELANGIECTASIA(AT), ATASSIA TELANGIECTASIA VARIANTE (ATLD) E NIJMEGEN BREAKAGE SINDROME (NBS) 34
Genotype-Phenotype Correlations in Monogenic Parkinson Disease. A Review on Clinical and Molecular Findings 34
Clinical and cellular phenotype of two Italian sibs with ATLD 33
Founder Effects for ATM Gene Mutations in Italian Ataxia Telangiectasia Families 32
Proneness to cancer in italian Ataxia telangiectasia families 32
Cutaneous venous malformation due to krit1 mutation: a case report 30
M. Piane, C. Savio, A. Altigeri, R. Pusateri, F.Ferrari, N. Pasquale, M.T. Contestabile, L. Chessa 29
Complete pseudo-anodontia in an adult woman with pseudo-hypoparathyroidism type 1a: a new additional nonclassical feature? 28
Long QTc in hypertrophic cardiomyopathy. A consequence of structural myocardial damage or a distinct genetic disease? 28
Una nuova mutazione del gene PCNT in un paziente italiano con sindrome di Seckel 27
ENIGMA CHEK2gether Project. A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk 24
Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia-Telangiectasia Mutated Gene 24
NUOVA MUTAZIONE DEL GENE NOTCH3 IN UN PAZIENTE ITALIANO CON CADASIL 24
Common and private mutations of the ATM gene in Italy 22
DNA SINGLE STRAND BREAKS AND NEURODEGENERATION. THE ROLE OF APRATAXIN (APTX) AND SENATAXIN (SETX). 20
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: Fourteen novel ATM mutations 20
null 19
Whole-exome and transcriptome sequencing expands the genotype of Majewski osteodysplastic primordial dwarfism type II 18
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 18
TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report 17
The role of genetic testing in suspected fulminant myocarditis: a case report 16
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility 15
L’ATASSIA TELANGIECTASIA IN ITALIA 15
Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors 14
null 13
Fenotipo clinico e cellulare di una fratria con ATLD (Ataxia Telangiectasia-Like Disorder) 12
Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease 9
Prenatal CFAP53-related laterality defect: case report and review of the literature 6
Seminological, Hormonal and Ultrasonographic Features of Male Factor Infertility Due to Genetic Causes: Results from a Large Monocentric Retrospective Study 3
Totale 4.206
Salva come PNG Salva come JPEG
Categoria #
all - tutte 12.164
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 12.164
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020475 0 0 11 34 48 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
2024/2025240 57 130 53 0 0 0 0 0 0 0 0 0
Totale 4.206