PESCUCCI, CHIARA
 Distribuzione geografica
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Continente #
AS - Asia 204
NA - Nord America 149
EU - Europa 65
SA - Sud America 14
AF - Africa 6
OC - Oceania 1
Totale 439
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Nazione #
US - Stati Uniti d'America 145
CN - Cina 71
SG - Singapore 50
JP - Giappone 37
IT - Italia 24
RU - Federazione Russa 20
HK - Hong Kong 13
BR - Brasile 10
VN - Vietnam 10
ES - Italia 9
IN - India 4
AE - Emirati Arabi Uniti 2
AT - Austria 2
BD - Bangladesh 2
CA - Canada 2
DE - Germania 2
FR - Francia 2
KR - Corea 2
MA - Marocco 2
TR - Turchia 2
UA - Ucraina 2
UZ - Uzbekistan 2
AR - Argentina 1
AU - Australia 1
BY - Bielorussia 1
CO - Colombia 1
CR - Costa Rica 1
DO - Repubblica Dominicana 1
EC - Ecuador 1
EG - Egitto 1
FI - Finlandia 1
GB - Regno Unito 1
GE - Georgia 1
ID - Indonesia 1
IL - Israele 1
IQ - Iraq 1
JO - Giordania 1
KZ - Kazakistan 1
MY - Malesia 1
NG - Nigeria 1
PE - Perù 1
PK - Pakistan 1
SK - Slovacchia (Repubblica Slovacca) 1
TN - Tunisia 1
TW - Taiwan 1
ZA - Sudafrica 1
Totale 439
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Città #
Singapore 45
Tokyo 37
Council Bluffs 35
Ashburn 33
Santa Clara 28
Beijing 13
Hong Kong 12
San Jose 8
Barcelona 7
New York 6
Los Angeles 4
Messina 4
Florence 3
Kent 3
Padua 3
Rome 3
São Paulo 3
Tropea 3
Bragança Paulista 2
Brooklyn 2
Can Tho 2
Dortmund 2
Hanoi 2
Ho Chi Minh City 2
Ludhiana 2
Ningbo 2
Rabat 2
Seoul 2
Tashkent 2
Abuja 1
Abū Qurqāş 1
Akaa 1
Al Ain City 1
Amman 1
Andau 1
Baghdad 1
Bandung 1
Bathinda 1
Beaverton 1
Borovlyany 1
Brisbane 1
Brookline 1
Buenos Aires 1
Buffalo 1
Bétera 1
Campo Novo do Parecis 1
Catania 1
Cayetano Germosén 1
Charlotte 1
Chennai 1
Chongqing 1
Colchester 1
Cuenca 1
Da Nang 1
Dallas 1
Davenport 1
Dunajov 1
Goiânia 1
Haiphong 1
Houston 1
Hưng Yên 1
Itapira 1
Johannesburg 1
Kirkland Lake 1
Kostanay 1
Lahore 1
Langfang 1
Lecce 1
Lucca 1
Moscow 1
Nanjing 1
Naples 1
Netanya 1
Novodnistrovsk 1
Oakland 1
Oklahoma City 1
Paris 1
Phoenix 1
Puchong 1
Riva presso Chieri 1
Riverdale 1
San Isidro 1
San José 1
Santana da Vargem 1
Shanghai 1
Shenzhen 1
Tai Wai 1
Taipei 1
Tbilisi 1
Teaneck 1
Tianjin 1
Toronto 1
Tunis 1
Uberaba 1
Valencia 1
Villagarzón 1
Warner Robins 1
Whitehall 1
Wuhan 1
Zaozhuang 1
Totale 343
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Nome #
Thin and thick primary cutaneous melanomas reveal distinct patterns of somatic copy number alterations 108
Characterization of copy number variants in hereditary cancer patients through NGS shows a distinctive PALB2 contribution to the diagnostic yield 42
A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears 20
Is Rett syndrome a loss-of-imprinting disorder? 13
Molecular dissection using array comparative genomic hybridization and clinical evaluation of an infertile male carrier of an unbalanced Y;21 traslocation: A case report and rewiew of the literature 13
Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study) 12
2q24-q31 deletion: report of a case and review of the literature 12
16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems 11
Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication 11
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome 11
Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System 10
2q24-q31 deletion: report of a case and review of the literature 10
Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH 10
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 10
Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma 10
Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view 10
A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears 10
An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation 9
Italian Rett database and biobank 9
Chromosomal alterations detected by comparative genomic hybridization in nonfunctioning endocrine pancreatic tumors 9
Isolation of fetal cells from the maternal circulation: prospects for the non-invasive prenatal diagnosis 9
Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG 9
Rett syndrome: the complex nature of a monogenic disease 8
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features 8
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome 8
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families 8
Germline mosaicism in Rett syndrome identified by prenatal diagnosis 8
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms 8
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients 8
Molecular Dissection Using Array Comparative Genomic Hybridization and Clinical Evaluation of An Infertile Male Carrier of An Unbalanced Y;21 Translocation: A Case Report and Review of The Literature 7
Easy genotyping of complement C3 'slow' and 'fast' allotypes by tetra-primer amplification refractory mutation system PCR 7
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome 7
Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance 7
Germline mosaicism in Rett syndrome identified by prenatal diagnosis 7
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements 6
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene 6
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH 6
Totale 477
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Categoria #
all - tutte 1.549
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 1.549
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/20245 0 0 0 0 0 0 0 0 1 0 4 0
2024/202559 2 8 4 8 20 8 0 1 3 2 2 1
2025/2026413 5 6 1 3 38 11 8 87 141 103 10 0
Totale 477