Catalogo dei prodotti della ricerca

PIANE, Maria
 Distribuzione geografica
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Continente #
NA - Nord America 2.126
EU - Europa 1.284
AS - Asia 260
AF - Africa 44
SA - Sud America 22
Continente sconosciuto - Info sul continente non disponibili 1
OC - Oceania 1
Totale 3.738
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Nazione #
US - Stati Uniti d'America 2.110
IT - Italia 671
UA - Ucraina 160
SE - Svezia 145
IN - India 132
FI - Finlandia 93
CN - Cina 76
IE - Irlanda 64
SG - Singapore 44
TG - Togo 42
GB - Regno Unito 39
FR - Francia 26
DE - Germania 25
BE - Belgio 22
AR - Argentina 19
NL - Olanda 17
BG - Bulgaria 12
CA - Canada 11
MX - Messico 5
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
EU - Europa 1
NO - Norvegia 1
PL - Polonia 1
RU - Federazione Russa 1
Totale 3.738
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Città #
Fairfield 246
Chandler 205
Rome 179
Ann Arbor 149
Woodbridge 139
Ashburn 123
Houston 111
Seattle 97
Wilmington 94
Princeton 83
Cambridge 82
Jacksonville 66
Dublin 62
Plano 61
Beijing 47
Lomé 42
Helsinki 38
Milan 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
Singapore 15
Brussels 12
Naples 12
Sofia 12
Boardman 11
Bergamo 10
Waanrode 10
Falls Church 9
Padova 9
Toronto 9
Bühl 8
San Mateo 8
Bremen 7
Fremont 7
Florence 6
Norwalk 6
Burnham-on-Crouch 5
Hefei 5
Istanbul 5
London 5
Matera 5
Mexico City 5
Nanjing 5
Torino 5
Bari 4
Brescia 4
Catania 4
Formello 4
Kunming 4
Los Angeles 4
Modena 4
Paris 4
Shanghai 4
Adelfia 3
Auburn Hills 3
Brembate di Sopra 3
Cerredolo 3
Cortona 3
Enna 3
Francavilla al Mare 3
Marigliano 3
Mondragone 3
Pune 3
Ronco all'Adige 3
San Francisco 3
Cachan 2
Capri 2
Cassano Magnago 2
Cremona 2
Crick 2
Ferrara 2
Ferrara di Monte Baldo 2
Formia 2
Frosinone 2
Galatina 2
Genoa 2
Giugliano in Campania 2
Grafing 2
Grosseto 2
Guidonia Montecelio 2
Hong Kong 2
Kilburn 2
Lappeenranta 2
Lecce 2
Lucca 2
Mascalucia 2
Mestre 2
Montechiarugolo 2
Mumbai 2
Novi di Modena 2
Ogliastro Cilento 2
Olbia 2
Totale 2.450
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Nome #
Nuove mutazioni del gene SETX in pazienti affetti da atassia con Aprassia Oculomotoria di tipo 2 (AOA2) 259
Ataxia with oculomotor apraxia type 2: a clinical, pathologic and genetic study. 97
Caratterizzazione molecolare di pazienti italiani affetti da Atassia con Aprassia Oculomotoria di tipo 1 (AOA1) 97
A next-generation sequencing approach to identify gene mutations in early-and late-onset hypertrophic cardiomyopathy patients of an Italian cohort 94
Cytotoxic T lymphocyte antigen 4 polymorphism 49 (A>G) and migraine. 88
Cutaneous Venous Malformations Related to KRIT1 Mutation: Case Report and Literature Review 86
Mre11 mutations and impaired ATM-dependent responses in an Italian family with ataxia telangiectasia-like disorder 79
Control of cell respiration by nitric oxide in Ataxia Telangiectasia lymphoblastoid cells 79
Beyond BRCA1 and BRCA2: deleterious variants in DNA repair pathway genes in italian families with breast/ovarian and pancreatic cancers 77
Genetics of migraine and pharmacogenomics: Some considerations 73
Different clinical and immunological presentation of ataxia-telangiectasia within the same family 72
NUOVA MUTAZIONE DEL GENE NOTCH3 IN UN PAZIENTE ITALIANO CON CADASIL 68
Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders 68
Impact of the COVID-19 Pandemic on Clinical Pathways for Non-SARS-CoV-2 Related Diseases in the Lazio Region, Italy 67
Modulation of hypersensitivity to oxidative DNA damage in ATM defective cells induced by potassium bromate by inhibition of the poly (ADP-ribose) polymerase (PARP) 63
Role of senataxin in DNA damage and telomeric stability 61
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 61
Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays 59
Impact of Cystic Fibrosis Transmembrane Regulator (CFTR) gene mutations on male infertility. 59
Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia. 58
Control of mitochondrial respiration by nitric oxide in Ataxia Telangeictasia cells 57
Phenotype Expression in a Case of Adult Cystic Fibrosis Caused by an Extremely Rare Compound Heterozygous Genotype (2183AA > G/2789+5G > A) 56
Microdelezione del cromosoma Y in soggetti con oligo/azoospermia idiopatica 55
ANALISI DI MUTAZIONE DEI GENI BRCA1/2 IN FAMIGLIE CON TUMORE DELLA MAMMELLA EREDITARIO 55
hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense;mediated mRNA decay 54
Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia 53
Risk stratification in hypertrophic cardiomyopathy. Insights from genetic analysis and cardiopulmonary exercise testing 53
From Survey Results to a Decision-Making Matrix for Strategic Planning in Healthcare: The Case of Clinical Pathways 53
A CASE OF ADULT CYSTIC FIBROSIS DUE TO EXTREMELY RARE COMPOUND HETEROZIGOUS MUTATION: PHENOTYPE AND POSSIBLE ASSOCIATION WITH GASTROINTESTINAL DAMAGE. 52
Il ruolo dell’Apratassina (APTX) nel riparo delle rotture del DNA a singolo filamento 51
Variable number of tandem repeats in zygosity diagnosis in twins. 50
THE ROLE OF ATM IN MONITORING THE INTEGRITY OF MITOTIC SPINDLE 48
Caratterizzazione molecolare di pazienti italiani affetti da Atassia con Aprassia Oculomotoria di tipo 1 (AOA1) 48
CARATTERIZZAZIONE DI MUTAZIONI CON EFFETTO DEL FONDATORE IN PAZIENTI ITALIANI AFFETTI DA ATASSIA-TELANGIECTASIA 47
Alleli HLA e predisposizione all'osteoporosi nei maschi 47
p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes 47
Nitric oxide, mithocondria and Ataxia Telangiectasia. 45
THE ROLE OF APRATAXIN (APTX) IN THE DNA SINGLE STRAND BREAK REPAIR 43
Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene 43
The novel human gene Aprataxin is directly involved in the DNA Single Strand Break Repair Complex 43
Altered NK-cell compartment and dysfunctional NKG2D/NKG2D-ligand axis in patients with ataxia-telangiectasia 43
Cytogenetics response of ATM defective cells to oxidative damage 42
REVIEW DELLE METODICHE DI DIAGNOSI IN AT 41
Comet Assay nello studio della radiosensibilità in pazienti con Atassia Telangiectasia (AT), Atassia Telangiectasia Variante (ATLD) e Nijmegen Breakage Sindrome (NBS). 41
Studio preliminare sull’influenza del gene ESR1 alpha nell’osteoporosi primaria e secondaria ad artrite reumatoide 40
Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of the PCNT gene 40
A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome 37
Identificazione di mutazioni nel gene hMRE11 in pazienti ATLD con Atassia senza Telangectasia 36
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy 35
Mutation of the ATM gene in Italy recovered through different methodological approaches 34
Genotype-phenotype relationships in Ataxia-Telangiectasia (A-T) and A-T variants 34
CYTOGENETIC EVIDENCE OF THE ROLE OF APRATAXIN IN DNA SINGLE STRAND BREAK REPAIR. 34
Novel and recurrent mutations in the ATM gene in Italian patients with classical Ataxia Telangiectasia 34
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 34
HLA alleles and susceptibility to osteoporosis in men 33
Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer 32
. Il ruolo dell’apratassina (APTX) nel riparo delle rotture del dna a singolo filamento 31
Proneness to cancer in italian Ataxia telangiectasia families 30
Genotype-Phenotype Correlations in Monogenic Parkinson Disease. A Review on Clinical and Molecular Findings 30
A novel c.952T>C mutation in Notch3 gene in a patient with chronic non-migraine-like headache. Expanding the genotypic spectrum of CADASIL? 30
Cutaneous venous malformation due to krit1 mutation: a case report 29
Founder Effects for ATM Gene Mutations in Italian Ataxia Telangiectasia Families 28
COMET ASSAY NELLO STUDIO DELLA RADIOSENSIBILITÀ IN PAZIENTI CON ATASSIA TELANGIECTASIA(AT), ATASSIA TELANGIECTASIA VARIANTE (ATLD) E NIJMEGEN BREAKAGE SINDROME (NBS) 28
M. Piane, C. Savio, A. Altigeri, R. Pusateri, F.Ferrari, N. Pasquale, M.T. Contestabile, L. Chessa 28
Aprataxin Mutations in Italian Patients with Ataxia and Oculomotor Apraxia (AOA) 27
Una nuova mutazione del gene PCNT in un paziente italiano con sindrome di Seckel 27
Clinical and cellular phenotype of two Italian sibs with ATLD 25
Complete pseudo-anodontia in an adult woman with pseudo-hypoparathyroidism type 1a: a new additional nonclassical feature? 22
NUOVA MUTAZIONE DEL GENE NOTCH3 IN UN PAZIENTE ITALIANO CON CADASIL 22
Long QTc in hypertrophic cardiomyopathy. A consequence of structural myocardial damage or a distinct genetic disease? 21
Common and private mutations of the ATM gene in Italy 21
DNA SINGLE STRAND BREAKS AND NEURODEGENERATION. THE ROLE OF APRATAXIN (APTX) AND SENATAXIN (SETX). 19
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: Fourteen novel ATM mutations 19
null 19
Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia-Telangiectasia Mutated Gene 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 17
TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report 16
ENIGMA CHEK2gether Project. A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk 14
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility 13
Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II 13
L’ATASSIA TELANGIECTASIA IN ITALIA 13
null 13
Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors 10
Fenotipo clinico e cellulare di una fratria con ATLD (Ataxia Telangiectasia-Like Disorder) 10
The role of genetic testing in suspected fulminant myocarditis: a case report 9
Prenatal CFAP53-related laterality defect: case report and review of the literature 1
Totale 3.858
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Categoria #
all - tutte 10.113
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 10.113
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019177 0 0 0 0 0 0 0 0 0 0 102 75
2019/2020626 114 37 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
2023/2024621 43 70 46 84 97 83 47 70 2 74 5 0
Totale 3.858