IRIS UniCatt

Orteschi, Daniela
 Distribuzione geografica
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Continente #
NA - Nord America 2.510
EU - Europa 2.166
AS - Asia 1.352
SA - Sud America 235
AF - Africa 40
OC - Oceania 4
Totale 6.307
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Nazione #
US - Stati Uniti d'America 2.449
DE - Germania 776
SG - Singapore 611
CN - Cina 373
PL - Polonia 296
SE - Svezia 251
IT - Italia 209
BR - Brasile 188
UA - Ucraina 183
FR - Francia 145
VN - Vietnam 104
GB - Regno Unito 71
IE - Irlanda 66
FI - Finlandia 60
ID - Indonesia 41
IN - India 41
JP - Giappone 37
RU - Federazione Russa 34
CA - Canada 28
TR - Turchia 25
BD - Bangladesh 22
HK - Hong Kong 18
NL - Olanda 18
AR - Argentina 16
MX - Messico 16
ZA - Sudafrica 15
BE - Belgio 13
ES - Italia 13
IQ - Iraq 11
IR - Iran 11
PK - Pakistan 10
AT - Austria 9
CO - Colombia 7
EC - Ecuador 6
KE - Kenya 6
KZ - Kazakistan 6
SA - Arabia Saudita 6
EG - Egitto 5
UY - Uruguay 5
UZ - Uzbekistan 5
CL - Cile 4
AZ - Azerbaigian 3
BZ - Belize 3
CI - Costa d'Avorio 3
JO - Giordania 3
LT - Lituania 3
MA - Marocco 3
MT - Malta 3
PE - Perù 3
PH - Filippine 3
PY - Paraguay 3
TT - Trinidad e Tobago 3
VE - Venezuela 3
BY - Bielorussia 2
CH - Svizzera 2
CY - Cipro 2
CZ - Repubblica Ceca 2
DO - Repubblica Dominicana 2
ET - Etiopia 2
IL - Israele 2
KG - Kirghizistan 2
KR - Corea 2
KW - Kuwait 2
MY - Malesia 2
NZ - Nuova Zelanda 2
PA - Panama 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AM - Armenia 1
AO - Angola 1
AU - Australia 1
BB - Barbados 1
BG - Bulgaria 1
CR - Costa Rica 1
DK - Danimarca 1
DZ - Algeria 1
GA - Gabon 1
GR - Grecia 1
HN - Honduras 1
HU - Ungheria 1
IS - Islanda 1
JM - Giamaica 1
KH - Cambogia 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
LV - Lettonia 1
MD - Moldavia 1
ML - Mali 1
MM - Myanmar 1
MN - Mongolia 1
MQ - Martinica 1
NG - Nigeria 1
NI - Nicaragua 1
NP - Nepal 1
OM - Oman 1
PG - Papua Nuova Guinea 1
RO - Romania 1
RS - Serbia 1
SV - El Salvador 1
TH - Thailandia 1
Totale 6.306
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Città #
Chandler 348
Singapore 296
Warsaw 284
Ashburn 251
San Jose 200
Jacksonville 101
New York 86
San Mateo 83
Nanjing 67
Dublin 64
Wilmington 63
Cattolica 58
Los Angeles 57
Woodbridge 55
Ann Arbor 54
Beijing 54
Houston 53
Fairfield 50
Nürnberg 49
Redmond 45
Jakarta 38
Dearborn 37
Lauterbourg 34
Munich 34
Ho Chi Minh City 31
Seattle 31
Tokyo 29
Lawrence 28
Frankfurt am Main 27
Boston 26
Marseille 26
Milan 26
Redwood City 24
São Paulo 24
Nanchang 23
Helsinki 22
Moscow 21
Rome 21
Hangzhou 20
Cambridge 19
Hefei 18
Buffalo 17
Hong Kong 17
Izmir 17
Hanoi 16
Lancaster 16
Norwalk 16
Dallas 15
Fremont 15
Santa Clara 15
Elkhart 14
Boardman 13
Bremen 13
Mountain View 13
Changsha 12
Atlanta 10
Chicago 10
Kunming 10
University Park 10
Brooklyn 9
Cincinnati 9
Guangzhou 9
Jiaxing 9
Phoenix 9
Princeton 9
Shenyang 9
Stockholm 9
Tianjin 9
Brasília 8
Chennai 8
Johannesburg 8
Nuremberg 8
Toronto 8
Brussels 7
Denver 7
Hebei 7
Leawood 7
Orem 7
San Diego 7
Ardabil 6
Dhaka 6
Düsseldorf 6
London 6
Nairobi 6
Turku 6
Waanrode 6
Zhengzhou 6
Bexley 5
Biên Hòa 5
City of London 5
Da Nang 5
Fuzhou 5
Kent 5
Kish 5
Lanzhou 5
Rio de Janeiro 5
The Dalles 5
Vienna 5
Belo Horizonte 4
Brescia 4
Totale 3.400
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Nome #
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions 452
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use 449
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 272
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 243
Gene expression profile of glioblastoma peritumoral tissue: an ex vivo study 205
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome 200
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions. 195
Early onset myoclonic epilepsy and 15q26 microdeletion: Observation of the first case. 184
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 182
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 171
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 171
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 170
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome 168
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 168
Unique genomic profile associated with pediatric uveal melanoma 167
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 166
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 161
Gene expression profile of glioblastoma peritumoral tissue: an ex vivo study 161
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes 160
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 158
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 158
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus 157
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 154
Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case 151
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype 151
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 151
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. 135
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome 134
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 129
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. 128
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use. 121
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
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 114
Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: a new syndrome? 108
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. 91
Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion. 89
Partial epilepsy complicated by convulsive and non convulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome 80
Totale 6.368
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Categoria #
all - tutte 22.431
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 22.431
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2024/2025666 19 26 45 37 47 25 13 34 116 59 131 114
2025/20261.734 295 50 70 178 329 119 292 88 109 131 38 35
2026/202734 34 0 0 0 0 0 0 0 0 0 0 0
Totale 6.368