IRIS
RESTA, Nicoletta
 Distribuzione geografica
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Continente #
NA - Nord America 814
EU - Europa 246
AS - Asia 64
AF - Africa 10
OC - Oceania 4
SA - Sud America 4
Totale 1.142
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Nazione #
US - Stati Uniti d'America 811
IT - Italia 127
FR - Francia 48
VN - Vietnam 35
DE - Germania 25
CN - Cina 10
CZ - Repubblica Ceca 8
FI - Finlandia 7
RU - Federazione Russa 7
ZA - Sudafrica 7
AE - Emirati Arabi Uniti 6
UA - Ucraina 6
AU - Australia 4
GB - Regno Unito 4
IN - India 4
JP - Giappone 4
NL - Olanda 4
CA - Canada 3
ES - Italia 3
NG - Nigeria 3
AT - Austria 2
BR - Brasile 2
CH - Svizzera 2
CL - Cile 2
HK - Hong Kong 2
DK - Danimarca 1
GR - Grecia 1
JO - Giordania 1
SE - Svezia 1
SG - Singapore 1
TR - Turchia 1
Totale 1.142
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Città #
Fairfield 77
Ashburn 66
Bari 39
Buffalo 34
Dong Ket 34
Woodbridge 32
Seattle 31
Houston 29
Cambridge 17
Wilmington 16
Davoli 15
Boardman 14
Chicago 14
Columbus 12
Altamura 10
Nuremberg 8
Helsinki 7
Mottola 7
Statte 7
Los Angeles 6
Muizenberg 6
New York 6
San Diego 6
San Jose 6
Ann Arbor 5
Dallas 5
Las Vegas 4
Lecce 4
Paris 4
Providence 4
San Francisco 4
Taranto 4
Triggiano 4
Washington 4
Abuja 3
Bloomfield 3
Council Bluffs 3
Melbourne 3
Milan 3
Mumbai 3
Pavia 3
Portland 3
Provo 3
Cassano delle Murge 2
Central 2
Crugers 2
Denver 2
Fisciano 2
Henderson 2
Herndon 2
Jacksonville 2
Leverano 2
London 2
Madrid 2
Nagoya 2
Naples 2
Otemae 2
Rome 2
Sesto San Giovanni 2
Toronto 2
Amman 1
Amorebieta 1
Amsterdam 1
Atlanta 1
Austin 1
Bedford 1
Bellevue 1
Bisceglie 1
Böblingen 1
Büdelsdorf 1
Cedar Knolls 1
Chandler 1
Chennai 1
Clearwater 1
Collegno 1
Contagem 1
Dulles 1
Elk Grove Village 1
Esslingen am Neckar 1
Fayetteville 1
Ho Chi Minh City 1
Imbersago 1
Istanbul 1
Jena 1
Kirkland 1
Lake Forest 1
Lausanne 1
Limburg an der Lahn 1
Lincoln 1
Lombard 1
Modugno 1
Montreal 1
Morke 1
Orlando 1
Padova 1
Palo Alto 1
Pedrengo 1
Phoenix 1
Putignano 1
Recife 1
Totale 642
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Nome #
Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end, file dd9e0c66-083e-1e9c-e053-3a05fe0a45ef 71
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency, file dd9e0c63-ca26-1e9c-e053-3a05fe0a45ef 63
TARGETED NEXT-GENERATION SEQUENCING ANALYSIS OF 1,000 INDIVIDUALS WITH INTELLECTUAL DISABILITY, file dd9e0c63-cf01-1e9c-e053-3a05fe0a45ef 63
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors, file dd9e0c64-895e-1e9c-e053-3a05fe0a45ef 62
The longevity SNP rs2802292 uncovered: HSF1 activates stress-dependent expression of FOXO3 through an intronic enhancer., file dd9e0c65-3ec1-1e9c-e053-3a05fe0a45ef 60
Influence of polymorphisms of DNA repair and GST genes on genotoxic damage and mutagen sensitivity in workers occupationally exposed to very low doses of ionizing radiation, file dd9e0c67-816a-1e9c-e053-3a05fe0a45ef 59
Loss of STK11 expression is an early event in prostate carcinogenesis and predicts therapeutic response to targeted therapy against MAPK/p38., file dd9e0c64-f913-1e9c-e053-3a05fe0a45ef 58
Primary melanoma of the testis: myth, file dd9e0c65-4248-1e9c-e053-3a05fe0a45ef 58
Novel scn5a p.W697x nonsense mutation segregation in a family with brugada syndrome, file dd9e0c6a-b009-1e9c-e053-3a05fe0a45ef 58
DP71 and SERCA2 alteration in human neurons of a Duchenne muscular dystrophy patient, file dd9e0c65-a016-1e9c-e053-3a05fe0a45ef 56
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS), file dd9e0c6a-77b1-1e9c-e053-3a05fe0a45ef 56
The Role of Oxidative Stress in the Pathomechanism of Congenital Malformations, file dd9e0c68-0193-1e9c-e053-3a05fe0a45ef 54
Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache", file dd9e0c6a-88d6-1e9c-e053-3a05fe0a45ef 53
Parallelism of DOG1 expression with recurrence risk in gastrointestinal stromal tumors bearing KIT or PDGFRA mutations, file dd9e0c64-5032-1e9c-e053-3a05fe0a45ef 50
Accurate classification of NF1 gene variants in 84 Italian patients with neurofibromatosis type 1, file dd9e0c65-6e98-1e9c-e053-3a05fe0a45ef 50
Stat3-positive tumor cells contribute to vessels neoformation in primary central nervous system lymphoma, file dd9e0c64-1519-1e9c-e053-3a05fe0a45ef 48
BRCAmut and "founder effect": A prospective study in a single academic institution, file dd9e0c65-4dc1-1e9c-e053-3a05fe0a45ef 45
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay, file dd9e0c65-d373-1e9c-e053-3a05fe0a45ef 38
null, file dd9e0c67-fe61-1e9c-e053-3a05fe0a45ef 36
De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly., file dd9e0c63-1555-1e9c-e053-3a05fe0a45ef 20
Clinical and functional characterization of a novel mutation in lamin a/C gene in a multigenerational family with arrhythmogenic cardiac laminopathy, file dd9e0c6c-1556-1e9c-e053-3a05fe0a45ef 20
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population, file dd9e0c64-e209-1e9c-e053-3a05fe0a45ef 19
A Rare Case of Severe Congenital RYR1-Associated Myopathy, file 7ddb1107-8321-4dd5-bb7c-529ed0a9a297 8
Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects, file dd9e0c6a-aa29-1e9c-e053-3a05fe0a45ef 8
Importance of clinical suspicion and multidisciplinary management for early diagnosis of a cardiac laminopathy patient: A case report, file 595c2058-0924-486d-af67-1521ec5a2517 7
Cardiac and neuromuscular features of patients with LMNA-related cardiomyopathy, file dd9e0c67-0e17-1e9c-e053-3a05fe0a45ef 7
In silico and in vivo analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects, file dd9e0c66-8065-1e9c-e053-3a05fe0a45ef 5
A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: A questionnaire-based retrospective study, file dd9e0c64-e9aa-1e9c-e053-3a05fe0a45ef 4
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros), file 519871f9-b5c7-431a-8c9a-a3ed58af1eb3 2
Pro-inflammatory cytokines as emerging molecular determinants in cardiolaminopathies, file 73a6007f-668d-4e8c-a396-b69f21f8a2f3 2
Genetic and clinical features of Familial Mediterranean Fever (FMF) in a homogeneous cohort of patients from south-eastern Italy, file 82d46104-afab-4ab3-ac9a-3fc98fe368bc 2
First report of whole CFTR gene duplication in a healthy newborn carrying R74W and V855I variants on the same allele, file 88895dc5-80b0-4476-b67e-e8b4b58d9b74 2
RUOLO DELLA SUSCETTIBILITÀ GENETICA NELL’INSORGENZA DEL MESOTELIOMA MALIGNO: NUOVE PROSPETTIVE, file dd9e0c66-3e88-1e9c-e053-3a05fe0a45ef 2
null, file dd9e0c66-6195-1e9c-e053-3a05fe0a45ef 2
Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation, file dd9e0c66-de94-1e9c-e053-3a05fe0a45ef 2
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate, file dd9e0c68-7cd5-1e9c-e053-3a05fe0a45ef 2
Microcephaly-Capillary Malformation Syndrome, file dd9e0c6a-6851-1e9c-e053-3a05fe0a45ef 2
Megalencephaly Capillary Malformation Syndrome, file dd9e0c6a-8323-1e9c-e053-3a05fe0a45ef 2
Late gadolinium enhancement role in arrhythmic risk stratification of patients with LMNA cardiomyopathy: results from a long-term follow-up multicentre study, file dd9e0c6a-8bee-1e9c-e053-3a05fe0a45ef 2
Spectrum of germline pathogenic variants in brca1/2 genes in the apulian southern italy population: Geographic distribution and evidence for targeted genetic testing, file dd9e0c6b-65f7-1e9c-e053-3a05fe0a45ef 2
Correspondence on “Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities,” by Carmignac et al, file dd9e0c6b-8bf2-1e9c-e053-3a05fe0a45ef 2
null, file dd9e0c63-3f03-1e9c-e053-3a05fe0a45ef 1
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance, file dd9e0c6a-5ac5-1e9c-e053-3a05fe0a45ef 1
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma, file dd9e0c6a-607d-1e9c-e053-3a05fe0a45ef 1
Limb hypertrophy: A skin vascular malformation and bilateral hydroureteronephrosis in a neonate, file dd9e0c6a-684f-1e9c-e053-3a05fe0a45ef 1
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia, file dd9e0c6a-7cfd-1e9c-e053-3a05fe0a45ef 1
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder, file dd9e0c6a-b284-1e9c-e053-3a05fe0a45ef 1
The DOG1 scoring system in GIST: a novel factor for measurement of the recurrence risk, file dd9e0c6a-fa85-1e9c-e053-3a05fe0a45ef 1
636 Genotoxic damage and dna repair gene polymorphisms in workers exposed to low doses of ionising radiation, file dd9e0c6b-1e73-1e9c-e053-3a05fe0a45ef 1
Totale 1.170
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Categoria #
all - tutte 5.301
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 5.301
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20208 0 0 0 0 0 0 0 1 0 6 1 0
2020/2021263 0 0 0 1 2 3 42 42 21 62 35 55
2021/2022336 11 15 14 16 23 16 18 17 12 33 109 52
2022/2023389 21 11 131 68 17 26 22 14 3 8 56 12
2023/2024167 7 11 13 15 23 9 29 28 14 5 13 0
Totale 1.170