IRIS
LINTAS, CARLA
 Distribuzione geografica
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Continente #
AS - Asia 436
EU - Europa 181
NA - Nord America 158
SA - Sud America 8
AF - Africa 5
OC - Oceania 4
Totale 792
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Nazione #
SG - Singapore 340
US - Stati Uniti d'America 139
IT - Italia 62
CN - Cina 52
HK - Hong Kong 20
DE - Germania 19
NL - Olanda 19
CA - Canada 18
GB - Regno Unito 15
ES - Italia 11
EE - Estonia 10
BR - Brasile 8
CZ - Repubblica Ceca 8
JP - Giappone 7
FR - Francia 6
CH - Svizzera 5
UA - Ucraina 5
ZA - Sudafrica 5
AU - Australia 4
FI - Finlandia 4
IN - India 4
PL - Polonia 4
IR - Iran 3
JO - Giordania 3
PT - Portogallo 3
AT - Austria 2
BE - Belgio 2
HU - Ungheria 2
PH - Filippine 2
QA - Qatar 2
RS - Serbia 2
TR - Turchia 2
DK - Danimarca 1
IL - Israele 1
MX - Messico 1
SE - Svezia 1
Totale 792
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Città #
Singapore 102
Rome 40
Shanghai 39
Boardman 25
Hong Kong 20
Amsterdam 15
London 14
Ashburn 11
Boydton 9
Redmond 9
Council Bluffs 8
Brno 6
Calgary 5
Frankfurt am Main 5
Los Angeles 5
Zurich 5
Atlanta 4
Cambridge 4
Madrid 4
São Paulo 4
Amman 3
Helsinki 3
Kawasaki 3
Nagasaki 3
San Francisco 3
Tres Cantos 3
Amer 2
Ansbach 2
Bangor 2
Belgrade 2
Brisbane 2
Budapest 2
Denver 2
Doha 2
Hackensack 2
Halifax 2
Leivi 2
Leuven 2
Lodz 2
Makati City 2
Monte Vista 2
Palermo 2
Paris 2
Piotrkow Trybunalski 2
Pistoia 2
Portimão 2
Pune 2
San Ramon 2
Santa Clara 2
Santa Cruz das Palmeiras 2
Schalksmühle 2
Sherbrooke 2
Tehran 2
Toronto 2
Villaricca 2
Ankara 1
Brampton 1
Buffalo 1
Canberra 1
Des Moines 1
Dongguan 1
Fort Mill 1
Fremont 1
Hejian 1
Jerusalem 1
L'Hospitalet de Llobregat 1
Little Suamico 1
Maglie 1
Maidenhead 1
Maleo 1
Melbourne 1
Mexico City 1
Montreal 1
Nagoya 1
North Bergen 1
Olomouc 1
Prague 1
Regina 1
Richardson 1
Risskov 1
Salt Lake City 1
San Diego 1
San Jose 1
Seattle 1
St Louis 1
Vila Nova de Gaia 1
Totale 441
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Nome #
AUTS2-Related Neuropsychiatric Disorders with Intrafamilial Variability 141
Rare Thrombophilic Variants in two Patients with Cerebral Venous Sinus Thrombosis after COVID-19 Vaccine Administration 43
Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families 32
Whole exome sequencing identifies a rare variant in MAS1 gene in a subject with lethal COVID-19 25
SARS-CoV-2 AY.4.2 variant circulating in Italy: Genomic preliminary insight 25
A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing 23
Genotype–phenotype correlations in relation to newly emerging monogenic forms of autism spectrum disorder and associated neurodevelopmental disorders: The importance of phenotype reevaluation after pangenomic results 22
Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability 19
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer? 19
Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study 19
BRAF Mutations in Melanoma: Biological Aspects, Therapeutic Implications, and Circulating Biomarkers 17
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations 17
Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder 17
Appropriateness of array-CGH in the ADHD clinics: A comparative study 16
Editorial: Epigenetics of Neurodevelopmental, Neuromuscular and Neurodegenerative Disorders 16
Exome Profiling Suggests Combined Effect of Myeloperoxidase, Toll-Like Receptors, and Metallopeptidase in Hidradenitis Suppurativa 16
Genetic and epigenetic MTHFR gene variants in the mothers of attention-deficit/hyperactivity disorder affected children as possible risk factors for neurodevelopmental disorders 15
Genome-wide expression studies in autism spectrum disorder, Rett syndrome, and Down syndrome 15
Evidence that ITGB3 promoter variants increase serotonin blood levels by regulating platelet serotonin transporter trafficking 15
Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features 15
Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders 15
Melanoma cell resistance to vemurafenib modifies inter-cellular communication signals 15
Molecular biomarkers to track clinical improvement following an integrative treatment model in autistic toddlers 15
FARP-1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family 15
Exploring the Role of the MUTYH Gene in Breast, Ovarian and Endometrial Cancer 14
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism 13
Autism genetics: Methodological issues and experimental design 13
An 8-year-old boy with autoimmune hepatitis and Candida onychosis as the first symptoms of autoimmune polyglandular syndrome (APS1): identification of a new homozygous mutation in the autoimmune regulator gene (AIRE) 13
Decreased serum arylesterase activity in autism spectrum disorders 13
An Interstitial 17q11.2 de novo Deletion Involving the CDK5R1 Gene in a High-Functioning Autistic Patient 13
Huntingtin gene CAG repeat size affects autism risk: Family-based and case–control association study 13
Association of autism with polyomavirus infection in postmortem brains 13
Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist 12
Do mutations of RAG genes have a role in human autoimmunity? The Notarangelo's hypothesis revisited 12
Reevaluation of serum arylesterase activity in neurodevelopmental disorders 11
Differential methylation at the RELN gene promoter in temporal cortex from autistic and typically developing post-puberal subjects 11
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes 11
Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders 9
Theophylline induces differentiation and modulates cytoskeleton dynamics and cytokines secretion in human melanoma-initiating cells 9
Genetic variation of the european eel (Anguilla anguilla) 8
Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: A systematic review 8
Melkersson-Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants? 8
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism 7
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders 7
Linking genetics to epigenetics: The role of folate and folate-related pathways in neurodevelopmental disorders 7
Mutations that affect the ability of the vnd/NK-2 homeoprotein to regulate gene expression: transgenic alterations and tertiary structure 6
Methylation profile in tumor and sputum samples of lung cancer patients detected by spiral computed tomography: a nested case-control study 6
Neocortical RELN promoter methylation increases significantly after puberty 6
Phytochemicals as Immunomodulatory Agents in Melanoma 6
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism 6
Immune transcriptome alterations in the temporal cortex of subjects with autism 6
Involvement of the PRKCB1 gene in autistic disorder: significant genetic association and reduced neocortical gene expression 6
Lack of infection with XMRV or other MLV-related viruses in blood, post-mortem brains and paternal gametes of autistic individuals 5
Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes 5
Totale 864
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Categoria #
all - tutte 7.443
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 7.443
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/202227 0 0 0 0 0 0 0 0 16 0 0 11
2022/202382 0 0 0 21 20 9 5 14 1 7 5 0
2023/2024123 9 11 5 13 10 22 5 19 2 6 14 7
2024/2025632 16 11 34 7 11 119 69 18 93 227 27 0
Totale 864