IRIS PubliCatt

Orteschi, Daniela
 Distribuzione geografica
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Continente #
EU - Europa 1.898
NA - Nord America 1.686
AS - Asia 500
AF - Africa 7
SA - Sud America 3
Totale 4.094
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Nazione #
US - Stati Uniti d'America 1.675
DE - Germania 721
PL - Polonia 283
CN - Cina 263
SE - Svezia 243
UA - Ucraina 183
IT - Italia 173
SG - Singapore 121
FR - Francia 77
IE - Irlanda 65
FI - Finlandia 42
GB - Regno Unito 41
ID - Indonesia 38
RU - Federazione Russa 26
IN - India 25
TR - Turchia 19
BE - Belgio 13
NL - Olanda 13
IR - Iran 11
JP - Giappone 10
CA - Canada 7
AT - Austria 3
BZ - Belize 3
CI - Costa d'Avorio 3
HK - Hong Kong 3
KZ - Kazakistan 3
MT - Malta 3
VN - Vietnam 3
CH - Svizzera 2
CZ - Repubblica Ceca 2
EG - Egitto 2
ES - Italia 2
BR - Brasile 1
CL - Cile 1
HU - Ungheria 1
IL - Israele 1
IS - Islanda 1
KW - Kuwait 1
LT - Lituania 1
LV - Lettonia 1
MA - Marocco 1
MY - Malesia 1
NG - Nigeria 1
PA - Panama 1
PE - Perù 1
PH - Filippine 1
RO - Romania 1
RS - Serbia 1
Totale 4.094
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Città #
Chandler 348
Warsaw 274
Ashburn 125
Jacksonville 101
Singapore 87
San Mateo 83
Nanjing 67
Dublin 63
Wilmington 63
Cattolica 58
New York 58
Woodbridge 55
Ann Arbor 54
Fairfield 50
Nürnberg 49
Houston 48
Redmond 44
Jakarta 38
Dearborn 37
Seattle 29
Lawrence 28
Marseille 26
Redwood City 24
Nanchang 23
Milan 22
Boston 21
Moscow 21
Hangzhou 20
Cambridge 19
Munich 18
Izmir 17
Beijing 16
Lancaster 16
Norwalk 16
Fremont 15
Los Angeles 14
Rome 14
Boardman 13
Bremen 13
Mountain View 13
Changsha 11
Helsinki 10
Kunming 10
University Park 10
Jiaxing 9
Princeton 9
Shenyang 9
Tianjin 9
Brussels 7
Hebei 7
Leawood 7
Ardabil 6
Guangzhou 6
San Diego 6
Waanrode 6
Zhengzhou 6
Fuzhou 5
Kish 5
Lanzhou 5
San Jose 5
Falls Church 4
Indiana 4
Las Vegas 4
Morlupo 4
Naples 4
Pune 4
Toronto 4
Abidjan 3
Belize City 3
Brescia 3
Buffalo 3
Catania 3
Changchun 3
Jinan 3
Kraków 3
Monmouth Junction 3
Philadelphia 3
Phoenix 3
Vienna 3
Washington 3
Alexandria 2
Almaty 2
Augusta 2
Bari 2
Binetto 2
Boulder 2
Brno 2
Clearwater 2
Dalian 2
Dong Ket 2
Falkenstein 2
Florence 2
Forest City 2
Grumo Nevano 2
Guidonia 2
Hefei 2
Hong Kong 2
Kinde 2
Montréal 2
Ningbo 2
Totale 2.355
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Nome #
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use 389
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions 350
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 206
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 149
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions. 139
Gene expression profile of glioblastoma peritumoral tissue: an ex vivo study 136
Early onset myoclonic epilepsy and 15q26 microdeletion: Observation of the first case. 130
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 124
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome 124
Unique genomic profile associated with pediatric uveal melanoma 118
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 114
Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype 114
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus 111
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 111
Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case 105
Gene expression profile of glioblastoma peritumoral tissue: an ex vivo study 104
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 102
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 99
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 99
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes 96
Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: a co-morbidity model with additional copy number variations in a large family 92
A novel truncating variant within exon 7 of KAT6B associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders 92
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome 91
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 89
Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype. 83
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 82
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype 82
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome 81
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. 76
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 73
Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: a new syndrome? 72
Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype. 63
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use. 58
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. 51
Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion. 49
Syndromic craniosynostosis can define new candidate genes for suture development or result from the non-specifc effects of pleiotropic genes: Rasopathies and chromatinopathies as examples 49
Partial epilepsy complicated by convulsive and non convulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome 40
Totale 4.143
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Categoria #
all - tutte 14.394
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 14.394
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020302 0 0 0 0 0 0 82 24 46 34 67 49
2020/2021409 16 45 10 47 63 27 51 9 54 14 69 4
2021/2022392 38 33 6 26 23 22 6 88 14 19 48 69
2022/2023840 118 124 60 149 42 105 35 75 77 10 27 18
2023/2024351 10 99 14 32 19 76 12 4 0 6 33 46
2024/2025209 19 26 45 37 47 25 10 0 0 0 0 0
Totale 4.143