Catalogo dei prodotti della ricerca

BOTTILLO, IRENE
 Distribuzione geografica
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Continente #
NA - Nord America 3.724
AS - Asia 2.549
EU - Europa 1.616
SA - Sud America 361
AF - Africa 134
OC - Oceania 10
Continente sconosciuto - Info sul continente non disponibili 2
Totale 8.396
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Nazione #
US - Stati Uniti d'America 3.619
SG - Singapore 934
IT - Italia 764
CN - Cina 417
HK - Hong Kong 369
VN - Vietnam 293
BR - Brasile 281
IN - India 214
DE - Germania 163
FI - Finlandia 111
FR - Francia 95
GB - Regno Unito 83
SE - Svezia 83
RU - Federazione Russa 58
JP - Giappone 57
BD - Bangladesh 51
ZA - Sudafrica 46
CA - Canada 44
UA - Ucraina 44
NL - Olanda 40
MA - Marocco 37
ID - Indonesia 33
AR - Argentina 30
AT - Austria 30
IQ - Iraq 29
MX - Messico 26
ES - Italia 25
BE - Belgio 22
PL - Polonia 19
EC - Ecuador 16
PK - Pakistan 16
TR - Turchia 15
IE - Irlanda 14
PH - Filippine 14
TG - Togo 14
BG - Bulgaria 13
RO - Romania 13
UZ - Uzbekistan 13
MY - Malesia 12
KR - Corea 11
AU - Australia 10
KE - Kenya 10
VE - Venezuela 10
EG - Egitto 9
IL - Israele 9
CR - Costa Rica 8
SA - Arabia Saudita 8
TN - Tunisia 8
GL - Groenlandia 7
IR - Iran 7
JO - Giordania 7
CZ - Repubblica Ceca 6
NP - Nepal 6
CH - Svizzera 5
CO - Colombia 5
KZ - Kazakistan 5
PE - Perù 5
PY - Paraguay 5
SK - Slovacchia (Repubblica Slovacca) 5
AZ - Azerbaigian 4
CL - Cile 4
DZ - Algeria 4
LT - Lituania 4
LV - Lettonia 4
TH - Thailandia 4
AE - Emirati Arabi Uniti 3
BO - Bolivia 3
DO - Repubblica Dominicana 3
HN - Honduras 3
PA - Panama 3
RS - Serbia 3
TT - Trinidad e Tobago 3
AM - Armenia 2
CY - Cipro 2
ET - Etiopia 2
HR - Croazia 2
HU - Ungheria 2
LB - Libano 2
LK - Sri Lanka 2
MT - Malta 2
NI - Nicaragua 2
QA - Qatar 2
SV - El Salvador 2
UY - Uruguay 2
AL - Albania 1
AO - Angola 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BZ - Belize 1
DK - Danimarca 1
EE - Estonia 1
EU - Europa 1
GE - Georgia 1
GH - Ghana 1
GR - Grecia 1
IS - Islanda 1
JM - Giamaica 1
KG - Kirghizistan 1
LA - Repubblica Popolare Democratica del Laos 1
MD - Moldavia 1
Totale 8.388
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Città #
Singapore 537
Ashburn 421
Fairfield 395
Hong Kong 354
Rome 332
San Jose 260
Woodbridge 182
Houston 157
Seattle 156
Chandler 130
Los Angeles 128
Cambridge 120
Dallas 119
Wilmington 111
Ho Chi Minh City 102
Beijing 83
New York 80
Santa Clara 73
The Dalles 64
Ann Arbor 63
Hanoi 61
San Paolo di Civitate 58
Lauterbourg 57
Frankfurt am Main 55
Princeton 53
Buffalo 49
Hillsboro 48
Millbury 48
Munich 48
Lawrence 47
Tokyo 46
Helsinki 41
Johannesburg 41
Council Bluffs 38
Plano 37
San Diego 37
Casablanca 31
Milan 31
Redondo Beach 29
São Paulo 27
Turku 27
Des Moines 23
Jakarta 23
Nuremberg 23
Chicago 22
Cosenza 20
Dearborn 18
Naples 18
Toronto 17
Andover 16
London 16
Warsaw 16
Da Nang 15
Guangzhou 15
Vienna 15
Dublin 14
Lomé 14
Moscow 14
Norwalk 14
Orem 14
Shanghai 14
Rio de Janeiro 13
Sofia 13
Lappeenranta 12
Montreal 12
Amsterdam 11
Boston 11
Denver 11
Fremont 11
Hefei 11
Kensington 11
Paris 11
San Francisco 11
Tashkent 11
Boardman 10
Mexico City 10
Salt Lake City 10
Waanrode 10
Atlanta 9
Baghdad 9
Brussels 9
Corato 9
Elk Grove Village 9
Jacksonville 9
New Delhi 9
Shenzhen 9
Bari 8
Cisterna di Latina 8
Delhi 8
Frascati 8
Haiphong 8
Latina 8
Nairobi 8
Washington 8
Amman 7
Brooklyn 7
Cairo 7
Columbus 7
Dhaka 7
Falkenstein 7
Totale 5.484
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Nome #
A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review 265
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. 197
Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome 173
True conversions from RAS mutant to RAS wild-type in circulating tumor DNA from metastatic colorectal cancer patients as assessed by methylation and mutational signature 172
Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement 169
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome 168
Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1 166
Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy 159
Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene 157
Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion 155
A novel germline mutation in CDK4 codon 24 associated to familial melanoma 154
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas 154
Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy 148
A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report 147
Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification 145
Dilated cardiomyopathy due to a novel combination of TTN and BAG3 genetic variants: From acute heart failure to subclinical phenotypes 144
Early detection of the pathogenetic variants of homologous recombination repair genes in prostate cancer: critical analysis and experimental design 142
Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: A case report 139
A single center retrospective review of patients from central italy tested for melanoma predisposition genes 139
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? 138
Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report 136
Comparison of two blood-based genotyping tests to investigate the KRAS G12C mutation in patients with non-small-cell lung cancer at failure of first-line treatments 132
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome 129
Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes 128
Disorders of sex development: a genetic study of patients in a multidisciplinary clinic. 127
Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes 127
An inherited TBX3 alteration in a prenatal case of ulnar‐mammary syndrome: Clinical assessment and functional characterization in Drosophila melanogaster 125
Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects 123
An Additional Patient With 3q27.3 Microdeletion Syndrome. 120
Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathy 119
Evolution of Neo-RAS-WT in Circulating Tumor DNA from First-Line to Subsequent Therapies in Metastatic Colorectal Cancer 118
Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation 116
A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome 114
Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion 114
Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF 111
Triple A syndrome: A novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency 111
Harmonization of Next-Generation Sequencing Procedure in Italian Laboratories: A Multi-Institutional Evaluation of the SiRe® Panel 111
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2? 108
Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion 107
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome 106
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. 105
Position paper ANMCO: Cardiomiopatia ipertrofica: dalla diagnosi al trattamento 104
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability? 104
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer? 103
The PI3K pathway induced by αMSH exerts a negative feedback on melanogenesis and contributes to the release of pigment 103
A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome 101
Novel pathogenic variant confirms the Association of REST and Jones syndrome 100
Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants 100
Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report 100
Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours 99
TBX2 gene duplication associated with complex heart defect and skeletal malformations 98
Congenital heart defects in the recurrent 2q13 deletion syndrome 98
null 97
MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients 96
RAS signaling in colorectal carcinomas through alteration of RAS, RAF, NF1, and/or RASSF1A 95
Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I 94
A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II 90
Pharmacogenetics in the era of next generation sequencing 89
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management 85
Variability in a three-generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16 84
A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria 81
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication 78
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy 75
Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman 75
EP18.19: Prenatal diagnosis of Cantú syndrome during the second trimester due to a novel ABCC9 pathogenic variant: a case report 74
Two novel HOGA1 splicing mutations identified in a Chinese patient with primary hyperoxaluria type 3 72
Functional analysis of splicing mutations in exon 7 of NFI gene 69
Innovazioni tecnologiche per lo studio della complessità del genoma umano 69
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations 66
Cardiological manifestations in males and females affected by NAA10‐related disease 64
Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome 61
A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation. 55
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Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay 52
RADX Gene Variant May Predispose to Familial Asperger Syndrome 51
Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay 40
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Six exonic variants in the SLC5A2 gene cause exon skipping in a minigene assay 29
A Novel POPDC2 Pathogenic Variant in a Young Patient With Cardiac Conduction Disease and Hypertrophic Cardiomyopathy 28
Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis Complex 27
Three intronic variants altering RNA splicing were identified in the CLCN5 gene by minigene assay 25
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Padlock assay in transthyretin amyloidosis: a feasibility study 3
Totale 8.782
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Categoria #
all - tutte 24.520
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 24.520
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202160 0 0 0 0 0 0 0 0 0 0 31 29
2021/2022607 19 23 51 33 94 20 18 63 77 41 58 110
2022/2023652 102 135 21 50 71 85 22 48 51 16 44 7
2023/2024469 25 45 24 50 43 78 19 22 5 44 73 41
2024/20251.613 27 27 48 102 117 101 112 79 245 179 121 455
2025/20263.837 446 188 337 365 526 243 633 229 300 362 208 0
Totale 8.782