IRIS
VETRO, ANNALISA
 Distribuzione geografica
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Continente #
NA - Nord America 1.286
EU - Europa 918
AS - Asia 626
OC - Oceania 4
AF - Africa 1
Totale 2.835
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Nazione #
US - Stati Uniti d'America 1.281
CN - Cina 606
IE - Irlanda 337
FI - Finlandia 134
UA - Ucraina 127
DE - Germania 96
IT - Italia 91
SE - Svezia 48
GB - Regno Unito 31
CZ - Repubblica Ceca 21
BE - Belgio 15
FR - Francia 11
JP - Giappone 8
CA - Canada 5
AU - Australia 4
IN - India 4
AE - Emirati Arabi Uniti 2
RU - Federazione Russa 2
BA - Bosnia-Erzegovina 1
ES - Italia 1
HK - Hong Kong 1
IM - Isola di Man 1
IR - Iran 1
LA - Repubblica Popolare Democratica del Laos 1
LV - Lettonia 1
MU - Mauritius 1
RO - Romania 1
SA - Arabia Saudita 1
SG - Singapore 1
TR - Turchia 1
Totale 2.835
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Città #
Dublin 337
Chandler 269
Jacksonville 199
Nanjing 175
Ashburn 104
Ann Arbor 73
Nanchang 71
Shenyang 64
Beijing 56
Lawrence 52
Medford 52
Princeton 52
Helsinki 50
Wilmington 49
New York 46
Hebei 45
Jiaxing 45
Changsha 44
Pavia 44
Boardman 39
Shanghai 30
Tianjin 22
Brno 21
Woodbridge 20
Hangzhou 19
Brussels 15
Fairfield 11
Norwalk 10
Des Moines 7
Milan 7
Tokyo 7
Dearborn 5
Florence 5
Houston 5
Jinan 5
Kunming 4
Ningbo 4
Pune 4
Lanzhou 3
San Francisco 3
Taizhou 3
Tappahannock 3
Verona 3
Auburn Hills 2
Berlin 2
Chieti 2
Dubai 2
Falkenstein 2
Falls Church 2
Haikou 2
Los Angeles 2
Melbourne 2
Mountain View 2
Orange 2
Seattle 2
Toronto 2
Cambridge 1
Desio 1
Douglas 1
Guangzhou 1
Guidonia 1
Hong Kong 1
Latina 1
Leawood 1
London 1
Montréal 1
Novokuznetsk 1
Ottawa 1
Paris 1
Piscataway 1
Pognana Lario 1
Redmond 1
Riyadh 1
Sacramento 1
Sarajevo 1
Singapore 1
Sydney 1
Timisoara 1
Vientiane 1
Washington 1
Zhengzhou 1
Totale 2.133
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Nome #
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 91
A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics. 89
Unexpected results in the constitution of small supernumerary marker chromosomes. 81
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus 76
Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs 76
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 75
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 73
High resolution genome-wide array-comparative genomic hybridization in splenic marginal zone B-cell lymphoma 72
Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era? 72
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation. 71
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 71
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome 69
Deletion 2q31.2-q31.3 in a 4 year old girl with microcephaly and severe mental retardation 67
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 63
De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia. 61
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 60
A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype 59
Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangement. 58
APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes 58
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 58
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. 57
Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH. 56
The phenotype of recurrent 10q22q23 deletions and duplications. 54
Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion 54
A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth. 54
Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy. 54
A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype 54
A Data Fusion Approach to Enhance Association Study in Epilepsy 53
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association 53
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. 52
The introduction of arrays in prenatal diagnosis: a special challenge. 51
A newborn with ambiguous genitalia and a complex X;Y rearrangement. 51
Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke 51
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 51
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. 49
Array technology in prenatal diagnosis 49
Complex rearrangement involving three chromosomes, four breakpoints and a 2.7-Mb deletion in the 18q segment observed in a girl with mild learning difficulties 48
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells 46
MCM5: A new actor in the link between DNA replication and Meier-Gorlin syndrome 45
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 45
An interstitial 4q31.21q31.22 microdeletion associated with developmental delay: case report and literature review. 45
XX males SRY negative: a confirmed cause of infertility 44
Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: a case report and review of the literature. 43
PRKACB and Carney complex 41
Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations 41
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 41
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. 40
Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature. 38
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. 38
First trimester diagnosis of 13q-syndrome associated with increased fetal nuchal translucency thickness. Clinical findings and systematic review. 34
Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome? 34
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 34
Totale 2.900
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Categoria #
all - tutte 10.251
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 10.251
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020710 207 284 1 26 3 26 16 38 4 62 43 0
2020/2021290 44 23 6 28 2 30 3 51 19 42 36 6
2021/2022249 3 4 2 3 8 9 14 20 15 6 26 139
2022/2023907 124 78 7 46 76 77 10 46 408 5 16 14
2023/2024363 44 61 6 17 21 86 0 61 5 6 9 47
2024/20251 1 0 0 0 0 0 0 0 0 0 0 0
Totale 2.900