IRIS
ROSSI, ELENA
 Distribuzione geografica
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Continente #
NA - Nord America 3.356
AS - Asia 2.469
EU - Europa 2.019
SA - Sud America 256
AF - Africa 61
OC - Oceania 7
Continente sconosciuto - Info sul continente non disponibili 1
Totale 8.169
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Nazione #
US - Stati Uniti d'America 3.290
CN - Cina 1.223
SG - Singapore 553
IE - Irlanda 421
UA - Ucraina 320
HK - Hong Kong 271
DE - Germania 251
FI - Finlandia 216
VN - Vietnam 207
RU - Federazione Russa 196
BR - Brasile 184
IT - Italia 147
GB - Regno Unito 128
FR - Francia 120
SE - Svezia 112
IN - India 41
JP - Giappone 41
CA - Canada 36
ZA - Sudafrica 33
BD - Bangladesh 28
PL - Polonia 23
AR - Argentina 20
BE - Belgio 20
MX - Messico 19
TR - Turchia 18
PK - Pakistan 16
EC - Ecuador 14
NL - Olanda 12
VE - Venezuela 12
ID - Indonesia 11
CZ - Repubblica Ceca 9
ES - Italia 9
IQ - Iraq 9
CO - Colombia 7
PH - Filippine 7
SA - Arabia Saudita 7
AU - Australia 6
RO - Romania 6
SK - Slovacchia (Repubblica Slovacca) 6
AZ - Azerbaigian 5
LT - Lituania 5
MA - Marocco 5
MY - Malesia 5
UY - Uruguay 5
UZ - Uzbekistan 5
AE - Emirati Arabi Uniti 4
AT - Austria 4
EG - Egitto 4
JO - Giordania 4
PE - Perù 4
PY - Paraguay 4
TN - Tunisia 4
BO - Bolivia 3
CL - Cile 3
CR - Costa Rica 3
KE - Kenya 3
MU - Mauritius 3
NO - Norvegia 3
AO - Angola 2
ET - Etiopia 2
KR - Corea 2
MD - Moldavia 2
OM - Oman 2
PA - Panama 2
AF - Afghanistan, Repubblica islamica di 1
BA - Bosnia-Erzegovina 1
BH - Bahrain 1
BN - Brunei Darussalam 1
CH - Svizzera 1
CI - Costa d'Avorio 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
EE - Estonia 1
EU - Europa 1
GH - Ghana 1
GM - Gambi 1
GR - Grecia 1
GT - Guatemala 1
HN - Honduras 1
HR - Croazia 1
IL - Israele 1
IM - Isola di Man 1
IR - Iran 1
JM - Giamaica 1
KG - Kirghizistan 1
KW - Kuwait 1
LK - Sri Lanka 1
LV - Lettonia 1
MK - Macedonia 1
MN - Mongolia 1
NI - Nicaragua 1
NZ - Nuova Zelanda 1
SD - Sudan 1
SI - Slovenia 1
TJ - Tagikistan 1
TT - Trinidad e Tobago 1
Totale 8.169
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Città #
Chandler 499
Dublin 417
Jacksonville 367
San Jose 299
Ashburn 273
Nanjing 271
Hong Kong 267
Singapore 267
Dallas 228
Beijing 205
Boardman 146
Nanchang 105
Ann Arbor 92
Princeton 89
Lawrence 84
Los Angeles 81
Ho Chi Minh City 75
Lauterbourg 75
Wilmington 75
Hebei 73
Shenyang 68
Changsha 65
Tianjin 64
Medford 61
Jiaxing 60
Munich 54
New York 54
Hanoi 53
Helsinki 52
Council Bluffs 49
Tokyo 40
Hangzhou 39
Woodbridge 34
Moscow 33
Buffalo 31
Redondo Beach 30
Shanghai 30
Johannesburg 28
Milan 27
Turku 25
Santa Clara 22
Warsaw 21
Brussels 20
Pavia 20
The Dalles 18
San Francisco 15
São Paulo 15
Verona 14
Houston 13
London 13
Chicago 12
Frankfurt am Main 12
Nuremberg 12
Denver 11
Des Moines 11
Kunming 11
Orem 11
Ottawa 11
Seattle 11
Manchester 10
Montreal 10
Phoenix 10
Rome 10
Fairfield 9
Boston 8
Da Nang 8
Falkenstein 8
Guangzhou 8
Ningbo 8
Rio de Janeiro 8
Brno 7
Brooklyn 7
Charlotte 7
Chennai 7
Columbus 7
Lanzhou 7
Stockholm 7
Toronto 7
Auburn Hills 6
Changchun 6
Haiphong 6
Lahore 6
Norwalk 6
Turin 6
Zhengzhou 6
Baku 5
Belo Horizonte 5
Caracas 5
Florence 5
Hải Dương 5
Istanbul 5
Jinan 5
Mexico City 5
Poplar 5
Prešov 5
Querétaro 5
Atlanta 4
Baghdad 4
Brasília 4
Buenos Aires 4
Totale 5.424
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Nome #
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 166
A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics. 162
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 162
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. 157
Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. 145
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 142
Activation of the galectin-1 (L-14-I) gene from nonexpressing differentiated cells by fusion with undifferentiated and tumorigenic cells. 141
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome 135
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion 127
Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs 126
8.5 Mb deletion at distal 5p in a male ascertained for azoospermia. 126
Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR). 125
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome). 123
Reciprocal translocations: how many are complex rearrangements? 121
Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langherans cell histiocytosis 120
Correlation between genomic alterations assessed by array comparative genomic hybridization, prognostically informative histologic subtype, stage, and patient survival in gastric cancer. 116
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. 115
A novel mechnaism for the origin of supernumerary marker chromosomes 115
A novel zinc finger-containing RNA-binding protein conserved from fruitflies to humans. 114
Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern. 112
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. 109
A newborn with ambiguous genitalia and a complex X;Y rearrangement. 107
Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences. 106
Case of Myhre syndrome with autism and peculiar skin histological findings. 105
Correlation between genomic alterations assessed by array comparative genomic hybridization, prognostically informative histologic subtype, stage, and patient survival in gastric cancer. 105
miRNAs Potentially Involved in Post Lung Transplant-Obliterative Bronchiolitis: The Role of miR-21-5p 100
Chromosomal localization of mitochondrial transcription factr A (TCF6), single-straned DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis 99
Identification of miRNAs Potentially Involved in Bronchiolitis Obliterans Syndrome: A Computational Study 99
DiGeorge anomaly associated with 10p deletion. 97
Ring syndrome: still true?. 95
High Resolution X Chromosome-Specific Array-CGH Detects New CNVs in Infertile Males. 95
Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langerhans cell histocytosis. AIEOP-Istiocitosi Group. 94
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion. 94
PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum 94
Inverted duplications are recurrent rearrangements always associated with a distal deletion. Description of a new case involving 2q 93
D8S7 is consistently deleted in inverted duplication of the short arm of chromosome 8 ( inv dup 8p) 93
XY (SRY -positive) Ovarian Disorder of Sex Development in Cattle 92
Regional assignment of the gene coding for a human Graves' disease autoantigen to 10q21.3-q22.1 91
Identification and characterization of a novel member of the dystrobrevin gene family. 89
Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases 89
Centromere Repositioning in Cattle (Bos taurus) Chromosome 17 89
Reciprocal translocations: a trap for cytogenetists? 89
Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome 88
Identification of novel prognostioc markers in relapsing localized resectable neuroblastoma. 88
Unbalanced cryptic t(1q:12q) translocation in an apparently X-linked syndrome with pachygyria, mental retardation and hypogenitalism 87
Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver–Russell Syndrome and Focus on the IGF1R Gene 87
A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy 86
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. 86
De novo Reciprocal Translocation t(5;6)(q13;q34) in Cattle: Cytogenetic and Molecular Characterization. 86
Colocalization of (TTAGGG)n telomeric sequences and ribosomal genes in Atlantic eels. 85
Trisomy 10qter confirmed by in siyu hybridization 84
Molecular Characterization of Xp Chromosome Deletion in a Fertile Cow. 83
Gene copy number variation in male breast cancer by aCGH. 83
De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s. 83
New cryptic karyotypic differences between cattle (Bos taurus) and goat (Capra hircus). 82
De novo reciprocal translocation t(5;6)(q13;q34) in cattle: cytogenetic and molecular characterization. 81
Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait. 81
Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency. 80
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions. 79
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome 79
Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation. 79
Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(x)(pter-->q24::q21.32-->qter) and random X inactivation 78
The gene (NFE2L1) for human NRF-1, an activator involved in nuclear mitochondrial interaction, maps to 7q32 78
Gene copy number variation in male breast cancer by aCGH. 78
Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31-->pter and monosomy 3p26.3-->pter in seven members. 76
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. 76
Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene. 76
Genomic analysis of cattle rob(1;29) 76
Analysis of XX SRY-negative sex reversal dogs 75
Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langherans cell histiocytosis. 74
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes. Clues to the mechanisms of formation. 73
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations 72
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. 71
A Revised Genome Assembly of the Region 5' to Canine SOX9 Includes the RevSex Orthologous Region 68
Mosaic Williams syndrome: A case report 66
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching 66
Presence of 1q gain and absence of 7p gain are new predictors of local or metatastic relapse in localized resectable neuroblastoma. 66
The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications 66
identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene 65
order of six loci at 2q24-q31 and orientation of the HOXD locus 64
The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome 63
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter. 62
Generation of iPSC lines derived from skin fibroblasts of two healthy controls using non-transmissible form of Sendai Virus 61
Human FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genes 60
Molecular cloning of cDNA encoding human carnitine acetyltransferase and mapping of the corresponding gene to chromosome 9q34.1 58
Definitive assignment of the growth hormone-releasing factor gene to 20q11.2 54
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome. 52
Gene-targeted deletion in mice of the Ets−1 transcription factor, a candidate gene in the Jacobsen syndrome kidney “critical region,” causes abnormal kidney development 49
Generation of an iPSC line from skin fibroblasts of a patient with Joubert syndrome carrying the homozygous loss of function variant c.787dupC in the AHI1 gene 48
Argo Delphi consensus statement on red flags and clinical gateways towards rare disease diagnosis 10
Totale 8.242
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Categoria #
all - tutte 34.024
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 34.024
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202116 0 0 0 0 0 0 0 0 0 0 0 16
2021/2022348 6 4 6 3 5 18 5 30 22 6 51 192
2022/20231.314 144 101 27 116 156 135 0 73 513 10 26 13
2023/2024426 56 87 9 22 33 89 14 38 2 12 18 46
2024/20251.129 21 103 31 37 20 52 23 85 301 40 125 291
2025/20262.714 210 228 307 338 394 114 494 105 203 160 99 62
Totale 8.242