Catalogo dei prodotti della ricerca

BOTTILLO, IRENE
 Distribuzione geografica
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Continente #
NA - Nord America 2.223
EU - Europa 757
AS - Asia 429
SA - Sud America 23
AF - Africa 20
OC - Oceania 4
Continente sconosciuto - Info sul continente non disponibili 1
Totale 3.457
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Nazione #
US - Stati Uniti d'America 2.197
IT - Italia 426
SG - Singapore 185
IN - India 116
CN - Cina 86
SE - Svezia 77
FI - Finlandia 51
DE - Germania 37
UA - Ucraina 35
NL - Olanda 22
ID - Indonesia 21
GB - Regno Unito 19
BE - Belgio 17
CA - Canada 16
BR - Brasile 15
TG - Togo 14
BG - Bulgaria 12
FR - Francia 12
RU - Federazione Russa 12
IE - Irlanda 11
RO - Romania 11
AR - Argentina 7
GL - Groenlandia 7
MY - Malesia 7
AU - Australia 4
CZ - Repubblica Ceca 3
ES - Italia 3
IL - Israele 3
IR - Iran 3
MX - Messico 3
ZA - Sudafrica 3
CH - Svizzera 2
HK - Hong Kong 2
HU - Ungheria 2
KR - Corea 2
LT - Lituania 2
RS - Serbia 2
AM - Armenia 1
BN - Brunei Darussalam 1
CL - Cile 1
CY - Cipro 1
DZ - Algeria 1
EE - Estonia 1
EG - Egitto 1
EU - Europa 1
LA - Repubblica Popolare Democratica del Laos 1
NG - Nigeria 1
Totale 3.457
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Città #
Fairfield 395
Ashburn 190
Woodbridge 181
Rome 180
Houston 154
Seattle 153
Chandler 129
Cambridge 120
Singapore 117
Wilmington 108
Ann Arbor 63
San Paolo di Civitate 58
Santa Clara 57
Princeton 53
Millbury 48
Lawrence 46
Beijing 41
New York 39
Plano 37
San Diego 33
Des Moines 22
Jakarta 21
Milan 19
Dearborn 18
Helsinki 18
Andover 16
Lomé 14
Norwalk 13
Sofia 12
Dublin 11
Fremont 11
Toronto 11
Waanrode 10
Boston 9
Corato 9
Jacksonville 9
Cisterna di Latina 8
Frascati 8
Latina 8
London 8
Boardman 7
Nuuk 7
Amsterdam 6
Cagliari 6
Falkenstein 6
Federal 6
Moscow 6
Washington 6
Brussels 5
Bühl 5
Kota Bharu 5
Ottawa 5
Bari 4
Falls Church 4
Los Angeles 4
Mannheim 4
Naples 4
Phoenix 4
Salt Lake City 4
Cardiff 3
Chengdu 3
Edinburgh 3
Lappeenranta 3
Las Vegas 3
Pittsburgh 3
San Mateo 3
Silvi 3
Tel Aviv 3
Trieste 3
Ariccia 2
Belgrade 2
Block 2
Brasschaat 2
Budapest 2
Caprie 2
Córdoba 2
Dallas 2
Frankfurt am Main 2
Genazzano 2
Giugliano In Campania 2
Hefei 2
Hong Kong 2
Indiana 2
Jinan 2
Kunming 2
Mexico City 2
Munich 2
Olomouc 2
Orta di Atella 2
Padova 2
Paris 2
Rieti 2
Romainville 2
Salvador 2
San Jose 2
Sant'Oreste 2
São Paulo 2
Tappahannock 2
Torino 2
Volla 2
Totale 2.647
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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 154
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. 108
Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion 108
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas 101
Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification 96
A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation. 91
Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy 90
Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes 90
Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement 89
Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene 88
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? 88
Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1 86
Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion 80
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome 79
Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome 76
A novel germline mutation in CDK4 codon 24 associated to familial melanoma 75
Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF 73
Disorders of sex development: a genetic study of patients in a multidisciplinary clinic. 73
Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation 72
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 70
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. 68
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 68
An Additional Patient With 3q27.3 Microdeletion Syndrome. 68
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome 68
Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes 67
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 67
Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours 66
Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects 65
RAS signaling in colorectal carcinomas through alteration of RAS, RAF, NF1, and/or RASSF1A 64
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome 63
Triple A syndrome: A novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency 60
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 58
TBX2 gene duplication associated with complex heart defect and skeletal malformations 57
null 55
Pharmacogenetics in the era of next generation sequencing 53
Harmonization of Next-Generation Sequencing Procedure in Italian Laboratories: A Multi-Institutional Evaluation of the SiRe® Panel 53
A single center retrospective review of patients from central italy tested for melanoma predisposition genes 52
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? 49
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability? 47
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 47
Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion 47
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication 46
A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report 42
Innovazioni tecnologiche per lo studio della complessità del genoma umano 42
Functional analysis of splicing mutations in exon 7 of NFI gene 37
A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome 35
Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy 34
The PI3K pathway induced by αMSH exerts a negative feedback on melanogenesis and contributes to the release of pigment 34
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy 33
Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I 33
Congenital heart defects in the recurrent 2q13 deletion syndrome 33
Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants 32
null 31
A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II 31
Two novel HOGA1 splicing mutations identified in a Chinese patient with primary hyperoxaluria type 3 30
A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria 30
A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome 25
null 23
An inherited TBX3 alteration in a prenatal case of ulnar‐mammary syndrome: Clinical assessment and functional characterization in Drosophila melanogaster 22
Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman 22
null 21
Dilated cardiomyopathy due to a novel combination of TTN and BAG3 genetic variants: From acute heart failure to subclinical phenotypes 17
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations 12
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer? 11
Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome 10
RADX Gene Variant May Predispose to Familial Asperger Syndrome 8
EP18.19: Prenatal diagnosis of Cantú syndrome during the second trimester due to a novel ABCC9 pathogenic variant: a case report 7
Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay 6
Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay 5
Six exonic variants in the SLC5A2 gene cause exon skipping in a minigene assay 4
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 3
Totale 3.748
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Categoria #
all - tutte 12.409
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 12.409
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020432 0 0 0 0 0 73 89 83 69 65 34 19
2020/2021351 21 24 11 102 7 16 11 26 36 37 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
2024/2025416 27 27 48 102 117 95 0 0 0 0 0 0
Totale 3.748