IRIS
VETRO, ANNALISA
 Distribuzione geografica
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Continente #
NA - Nord America 1.362
EU - Europa 941
AS - Asia 704
OC - Oceania 4
SA - Sud America 2
AF - Africa 1
Totale 3.014
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Nazione #
US - Stati Uniti d'America 1.355
CN - Cina 608
IE - Irlanda 337
FI - Finlandia 139
UA - Ucraina 127
DE - Germania 101
IT - Italia 97
SG - Singapore 74
SE - Svezia 48
GB - Regno Unito 34
CZ - Repubblica Ceca 22
BE - Belgio 15
FR - Francia 11
JP - Giappone 8
CA - Canada 7
AU - Australia 4
IN - India 4
HK - Hong Kong 3
AE - Emirati Arabi Uniti 2
LV - Lettonia 2
RU - Federazione Russa 2
AZ - Azerbaigian 1
BA - Bosnia-Erzegovina 1
BR - Brasile 1
CL - Cile 1
ES - Italia 1
IM - Isola di Man 1
IR - Iran 1
LA - Repubblica Popolare Democratica del Laos 1
LU - Lussemburgo 1
MU - Mauritius 1
RO - Romania 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
TR - Turchia 1
Totale 3.014
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Città #
Dublin 337
Chandler 269
Jacksonville 199
Nanjing 176
Ashburn 104
Boardman 91
Ann Arbor 73
Nanchang 71
Shenyang 64
Beijing 56
Helsinki 55
Singapore 54
Lawrence 52
Medford 52
Princeton 52
Wilmington 49
New York 47
Hebei 45
Jiaxing 45
Changsha 44
Pavia 44
Shanghai 30
Brno 22
Tianjin 22
Woodbridge 20
Hangzhou 19
Brussels 15
Fairfield 11
Norwalk 10
Dallas 8
Des Moines 7
Milan 7
Tokyo 7
Dearborn 5
Florence 5
Houston 5
Jinan 5
Kunming 5
Falkenstein 4
Los Angeles 4
Ningbo 4
Pune 4
Capiago Intimiano 3
Hong Kong 3
Lanzhou 3
San Francisco 3
Taizhou 3
Tappahannock 3
Toronto 3
Verona 3
Auburn Hills 2
Berlin 2
Chieti 2
Dubai 2
Falls Church 2
Haikou 2
London 2
Melbourne 2
Mountain View 2
Orange 2
Rome 2
Seattle 2
Baku 1
Bratislava 1
Cambridge 1
Campinas 1
Desio 1
Douglas 1
Guangzhou 1
Guidonia 1
Latina 1
Leawood 1
Luxembourg 1
Montréal 1
Munich 1
Novokuznetsk 1
Nuremberg 1
Ottawa 1
Paris 1
Piscataway 1
Pognana Lario 1
Redmond 1
Riga 1
Riyadh 1
Sacramento 1
Santiago Metropolitan 1
Sarajevo 1
Sydney 1
Timisoara 1
Vancouver 1
Vientiane 1
Washington 1
Zhengzhou 1
Totale 2.277
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Nome #
A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics. 96
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 93
Unexpected results in the constitution of small supernumerary marker chromosomes. 83
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus 82
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 81
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation. 79
Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs 78
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 78
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 76
High resolution genome-wide array-comparative genomic hybridization in splenic marginal zone B-cell lymphoma 75
Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era? 75
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome 73
Deletion 2q31.2-q31.3 in a 4 year old girl with microcephaly and severe mental retardation 70
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 70
De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia. 66
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 64
APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes 63
A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype 62
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 61
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. 60
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. 59
Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH. 59
A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth. 58
Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy. 58
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association 58
Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion 57
A Data Fusion Approach to Enhance Association Study in Epilepsy 57
A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype 57
The phenotype of recurrent 10q22q23 deletions and duplications. 56
A newborn with ambiguous genitalia and a complex X;Y rearrangement. 54
Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke 54
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. 54
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 53
The introduction of arrays in prenatal diagnosis: a special challenge. 52
Array technology in prenatal diagnosis 52
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 52
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. 50
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 50
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells 50
MCM5: A new actor in the link between DNA replication and Meier-Gorlin syndrome 49
An interstitial 4q31.21q31.22 microdeletion associated with developmental delay: case report and literature review. 48
XX males SRY negative: a confirmed cause of infertility 47
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 47
Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: a case report and review of the literature. 45
PRKACB and Carney complex 44
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 43
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. 42
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. 40
Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature. 39
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 39
Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome? 36
First trimester diagnosis of 13q-syndrome associated with increased fetal nuchal translucency thickness. Clinical findings and systematic review. 35
Totale 3.079
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Categoria #
all - tutte 13.192
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 13.192
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020163 0 0 0 0 0 0 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
2024/2025180 17 64 24 16 13 41 5 0 0 0 0 0
Totale 3.079