CASSINA, MATTEO
 Distribuzione geografica
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Continente #
NA - Nord America 4.824
EU - Europa 613
AS - Asia 576
SA - Sud America 4
AF - Africa 3
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 2
Totale 6.025
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Nazione #
US - Stati Uniti d'America 4.820
CN - Cina 321
SG - Singapore 207
IT - Italia 188
SE - Svezia 139
FI - Finlandia 85
GB - Regno Unito 74
DE - Germania 42
FR - Francia 36
HK - Hong Kong 17
NL - Olanda 14
IN - India 9
VN - Vietnam 9
IR - Iran 8
UA - Ucraina 6
IE - Irlanda 5
RU - Federazione Russa 5
BE - Belgio 4
BR - Brasile 4
ES - Italia 4
CA - Canada 3
AT - Austria 2
AU - Australia 2
EU - Europa 2
GR - Grecia 2
KR - Corea 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AZ - Azerbaigian 1
CZ - Repubblica Ceca 1
DK - Danimarca 1
HU - Ungheria 1
JP - Giappone 1
MA - Marocco 1
MX - Messico 1
NG - Nigeria 1
PK - Pakistan 1
PL - Polonia 1
PT - Portogallo 1
RO - Romania 1
SK - Slovacchia (Repubblica Slovacca) 1
ZA - Sudafrica 1
Totale 6.025
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Città #
Fairfield 828
Woodbridge 469
Houston 414
Ashburn 400
Ann Arbor 390
Chandler 356
Seattle 340
Cambridge 299
Wilmington 262
Singapore 165
Santa Clara 120
Boardman 115
San Diego 82
Beijing 78
Padova 76
Princeton 71
Medford 63
Des Moines 48
Helsinki 42
Roxbury 38
Nanjing 35
Milan 23
Jacksonville 18
London 16
New York 16
Shenyang 14
Guangzhou 12
Tianjin 11
Jinan 10
Nanchang 10
Norwalk 10
Dong Ket 9
Hebei 9
Lappeenranta 9
Washington 9
Changsha 8
Hefei 8
Noci 7
Ogden 6
Tappahannock 6
Zhengzhou 6
Dongguan 5
Dublin 5
Jiaxing 5
Taizhou 5
Chicago 4
Ciudad Real 4
Haikou 4
Hangzhou 4
Hong Kong 4
Merlara 4
Pune 4
Borås 3
Fremont 3
Giardini-Naxos 3
Glasgow 3
Hounslow 3
Kilburn 3
Lanzhou 3
Las Vegas 3
Naples 3
Rome 3
Rotterdam 3
Tallahassee 3
Verona 3
Waanrode 3
Wuhan 3
Xi'an 3
Amsterdam 2
Borgomanero 2
Chalandri 2
Chaoyang 2
Colli del Tronto 2
Fuzhou 2
Gießen 2
Gongju 2
Islington 2
Kunming 2
Kyiv 2
Linfen 2
Los Angeles 2
Pullach im Isartal 2
Redwood City 2
Sant'elena 2
Shanghai 2
Tübingen 2
Andover 1
Arzignano 1
Atlanta 1
Baku 1
Baotou 1
Belluno 1
Bielefeld 1
Bratislava 1
Brussels 1
Budapest 1
Buxton 1
Cagliari 1
Caivano 1
Casalserugo 1
Totale 5.054
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Nome #
Clinical and genetic correlates of decision making in anorexia nervosa 163
The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas 144
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations. 143
DNA-based methods for age estimation 143
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function 141
Forkhead Box G1 Gene Haploinsufficiency: An Emerging Cause of Dyskinetic Encephalopathy of Infancy 137
14q12 duplication including FOXG1: Is there a common age-dependent epileptic phenotype? 133
Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches 133
RETINAL VASCULAR ABNORMALITIES IN A LARGE COHORT OF PATIENTS AFFECTED BY NEUROFIBROMATOSIS TYPE 1: A Study Using Optical Coherence Tomography Angiography. 131
Serotonin transporter gene polymorphism in eating disorders: Data from a new biobank and META-analysis of previous studies 127
Catechol-O-Methyltransferase (COMT) Val158Met Polymorphism and Eating Disorders: Data From a New Biobank and Meta-Analysis of Previously Published Studies 127
Natural history of optic pathway gliomas in a cohort of unselected patients affected by Neurofibromatosis 1 126
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus 124
Optic pathway glioma in type 1 neurofibromatosis: Review of its pathogenesis, diagnostic assessment, and treatment recommendations 120
Treatment of Hyperthyroidism in Pregnancy and Birth Defects 118
Functional connectivity correlates of response inhibition impairment in anorexia nervosa 113
Congenital pulmonary airway malformation (CPAM) [congenital cystic adenomatoid malformation] associated with tracheoesophageal fistula and agensesis of the corpus callosum. 112
Prevalence, characteristics, and survival of children with esophageal atresia: A 32-year population-based study including 1,417,724 consecutive newborns 110
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3 109
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations 108
Prevalence and survival of patients with anorectal malformations: A population-based study 107
Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa 107
Pregnancy outcome in women exposed to antiepileptic drugs: Teratogenic role of maternal epilepsy and its pharmacologic treatment. 102
First-trimester exposure to metformin and risk of birth defects: a systematic review and meta-analysis. 102
Medications in pregnancy and lactation. 102
Eating-induced epileptic spasms in a boy with MECP2 duplication syndrome: insights into pathogenesis of genetic epilepsies. 99
Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa 99
Genetics of coenzyme q10 deficiency. 98
Therapy of inflammatory bowel diseases in pregnancy and lactation. 98
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy 96
A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome. 92
Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay. 91
Infantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A. 88
Genetic susceptibility to teratogens: State of the art. 88
Migraine therapy during pregnancy and lactation 88
Pharmacologic treatment of hyperthyroidism during pregnancy. 87
Pregnancy outcomes in women on metformin for diabetes or other indications among those seeking teratology information services 86
Human teratogens and genetic phenocopies. Understanding pathogenesis through human genes mutation 85
Prenatal detection of trisomy 8 mosaicism: Pregnancy outcome and follow up of a series of 17 consecutive cases 85
Analysis of p53 polymorphisms in individuals with multiple melanocytic nevi 84
Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies 83
Pregnancy outcome in women exposed to leflunomide before or during pregnancy. 81
Dysfunctional coping is related to impaired skin-related quality of life and psychological distress in patients with neurofibromatosis type 1 with major skin involvement 80
Auditory Outcome after Cochlear Implantation in Children with DFNB7/11 Caused by Pathogenic Variants in TMC1 Gene 80
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes 77
Congenital anomalies in contaminated sites: A multisite study in Italy 77
Haploinsufficiency of COQ4 causes coenzymeQ10 deficiency 74
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants 74
Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders 72
Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease 72
Recurrent HERV-H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays 71
Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa 70
Hybrid minigene assay: An efficient tool to characterize mrna splicing profiles of nf1 variants 70
First trimester diclofenac exposure and pregnancy outcome 69
The COQ2 genotype predicts the severity of Coenzyme Q10 deficiency 69
Genotype-phenotype correlation in Gordon's syndrome: report of two cases carrying novel heterozygous mutations 65
Epigenetics of pregnancy: looking beyond the DNA code 59
Dysfunctional coping is related to impaired skin-related QoL and psychological distress in patients with Neurofibromatosis type 1 49
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature 49
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders 48
FBXO28 is a critical gene of the 1q41q42 microdeletion syndrome. 38
Epilepsy in NF1: Epidemiologic, genetic, and clinical features. a monocentric retrospective study in a cohort of 784 patients 38
Ondansetron should never be used in pregnancy: Against: Ondansetron in pregnancy revisited 33
Genetics & Epigenetics of Hereditary Deafness: An Historical Overview 33
Craniosynostosis is a feature of CHD7-related CHARGE syndrome 30
Ondansetron in pregnancy revisited: Assessment and pregnancy labelling by the European Medicines Agency (EMA) & Pharmacovigilance Risk Assessment Committee (PRAC) 23
Handle with care — interpretation, synthesis and dissemination of data on paracetamol in pregnancy 19
Homozygous TNNI3 Mutations and Severe Early Onset Dilated Cardiomyopathy: Patient Report and Review of the Literature 18
Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant 16
Catechol-O-Methyltransferase (COMT) Val158Met Polymorphism and Eating Disorders: Data From a New Biobank and Meta-Analysis of Previously Published Studies 13
From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome - case report 12
Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional Study 11
The risk of questioning the safety of drugs considered safe in pregnancy at the era of big data: the everlasting case of doxylamine 9
Early pediatric palliative care involvement in a child with a large deletion of the short arm (p) of chromosome 10: a case report 8
Effects of maternal modafinil treatment on fetal development and neonatal growth parameters - a multicenter case series of the European Network of Teratology Information Services (ENTIS) 8
Cantú syndrome: A new case and evolution of clinical conditions during first 2-year follow-up 8
Characterization of Two Novel PNKP Splice‐Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations 7
The impact of a second embryo biopsy for preimplantation genetic testing for monogenic diseases (PGT-M) with inconclusive results on pregnancy potential: results from a matched case-control study 2
Early pediatric palliative care involvement in a child with a large deletion of the short arm (p) of chromosome 10: a case report 1
Totale 6.162
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Categoria #
all - tutte 24.260
article - articoli 23.711
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 342
Totale 48.313
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020780 0 0 0 0 0 0 138 143 156 166 121 56
2020/20211.037 60 64 59 46 109 30 39 97 129 142 173 89
2021/20221.082 25 67 109 136 112 80 65 107 64 38 73 206
2022/2023722 146 77 18 81 109 77 1 53 107 7 33 13
2023/2024429 36 61 55 30 33 64 24 9 10 19 41 47
2024/2025559 10 99 66 92 226 66 0 0 0 0 0 0
Totale 6.162