IRIS
ROSSI, ELENA
 Distribuzione geografica
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Continente #
NA - Nord America 3.504
AS - Asia 2.478
EU - Europa 2.029
SA - Sud America 258
Continente sconosciuto - Info sul continente non disponibili 74
AF - Africa 61
OC - Oceania 7
Totale 8.411
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Nazione #
US - Stati Uniti d'America 3.432
CN - Cina 1.224
SG - Singapore 560
IE - Irlanda 421
UA - Ucraina 320
HK - Hong Kong 271
DE - Germania 251
FI - Finlandia 216
VN - Vietnam 208
RU - Federazione Russa 196
BR - Brasile 185
IT - Italia 156
GB - Regno Unito 128
FR - Francia 121
SE - Svezia 112
IN - India 41
JP - Giappone 41
CA - Canada 39
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 8
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
GT - Guatemala 2
JM - Giamaica 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
HN - Honduras 1
HR - Croazia 1
IL - Israele 1
IM - Isola di Man 1
IR - Iran 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
VI - Stati Uniti Isole Vergini 1
Totale 8.338
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Città #
Chandler 499
Dublin 417
Jacksonville 367
San Jose 305
Ashburn 285
Nanjing 271
Singapore 269
Hong Kong 267
Dallas 229
Beijing 205
Boardman 146
Council Bluffs 119
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
Hanoi 54
Munich 54
New York 54
Helsinki 52
Tokyo 40
Hangzhou 39
Woodbridge 34
Moscow 33
Buffalo 31
Redondo Beach 30
Santa Clara 30
Shanghai 30
Johannesburg 28
Milan 27
Turku 25
Warsaw 21
Brussels 20
Pavia 20
The Dalles 18
San Francisco 16
São Paulo 15
Verona 15
Chicago 13
Houston 13
London 13
Frankfurt am Main 12
Nuremberg 12
Denver 11
Des Moines 11
Kunming 11
Orem 11
Ottawa 11
Rome 11
Seattle 11
Columbus 10
Manchester 10
Montreal 10
Phoenix 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
Lanzhou 7
Stockholm 7
Toronto 7
Turin 7
Auburn Hills 6
Changchun 6
Haiphong 6
Lahore 6
Norwalk 6
Washington 6
Zhengzhou 6
Atlanta 5
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
Baghdad 4
Brasília 4
Totale 5.535
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Nome #
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 169
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 168
A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics. 164
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. 159
Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. 147
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 145
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 137
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome). 128
Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs 128
Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR). 127
8.5 Mb deletion at distal 5p in a male ascertained for azoospermia. 127
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion 127
Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langherans cell histiocytosis 122
Reciprocal translocations: how many are complex rearrangements? 122
Correlation between genomic alterations assessed by array comparative genomic hybridization, prognostically informative histologic subtype, stage, and patient survival in gastric cancer. 118
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. 116
A novel mechnaism for the origin of supernumerary marker chromosomes 116
Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern. 114
A novel zinc finger-containing RNA-binding protein conserved from fruitflies to humans. 114
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. 112
Correlation between genomic alterations assessed by array comparative genomic hybridization, prognostically informative histologic subtype, stage, and patient survival in gastric cancer. 109
Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences. 108
Case of Myhre syndrome with autism and peculiar skin histological findings. 107
A newborn with ambiguous genitalia and a complex X;Y rearrangement. 107
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 101
Identification of miRNAs Potentially Involved in Bronchiolitis Obliterans Syndrome: A Computational Study 101
miRNAs Potentially Involved in Post Lung Transplant-Obliterative Bronchiolitis: The Role of miR-21-5p 101
DiGeorge anomaly associated with 10p deletion. 98
High Resolution X Chromosome-Specific Array-CGH Detects New CNVs in Infertile Males. 97
Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langerhans cell histocytosis. AIEOP-Istiocitosi Group. 96
Inverted duplications are recurrent rearrangements always associated with a distal deletion. Description of a new case involving 2q 96
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion. 96
D8S7 is consistently deleted in inverted duplication of the short arm of chromosome 8 ( inv dup 8p) 96
PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum 96
Ring syndrome: still true?. 95
XY (SRY -positive) Ovarian Disorder of Sex Development in Cattle 95
Regional assignment of the gene coding for a human Graves' disease autoantigen to 10q21.3-q22.1 94
Identification of novel prognostioc markers in relapsing localized resectable neuroblastoma. 93
Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases 92
Reciprocal translocations: a trap for cytogenetists? 91
Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome 90
Centromere Repositioning in Cattle (Bos taurus) Chromosome 17 90
Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver–Russell Syndrome and Focus on the IGF1R Gene 90
A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy 89
Identification and characterization of a novel member of the dystrobrevin gene family. 89
Unbalanced cryptic t(1q:12q) translocation in an apparently X-linked syndrome with pachygyria, mental retardation and hypogenitalism 88
Colocalization of (TTAGGG)n telomeric sequences and ribosomal genes in Atlantic eels. 88
New cryptic karyotypic differences between cattle (Bos taurus) and goat (Capra hircus). 88
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. 87
De novo Reciprocal Translocation t(5;6)(q13;q34) in Cattle: Cytogenetic and Molecular Characterization. 87
Molecular Characterization of Xp Chromosome Deletion in a Fertile Cow. 85
Gene copy number variation in male breast cancer by aCGH. 85
Trisomy 10qter confirmed by in siyu hybridization 84
De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s. 84
Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait. 83
De novo reciprocal translocation t(5;6)(q13;q34) in cattle: cytogenetic and molecular characterization. 82
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions. 81
Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency. 81
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome 80
Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(x)(pter-->q24::q21.32-->qter) and random X inactivation 80
Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation. 80
The gene (NFE2L1) for human NRF-1, an activator involved in nuclear mitochondrial interaction, maps to 7q32 79
Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31-->pter and monosomy 3p26.3-->pter in seven members. 78
Gene copy number variation in male breast cancer by aCGH. 78
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes. Clues to the mechanisms of formation. 78
Genomic analysis of cattle rob(1;29) 78
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. 77
Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene. 77
Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langherans cell histiocytosis. 76
Analysis of XX SRY-negative sex reversal dogs 76
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations 74
Mosaic Williams syndrome: A case report 71
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 70
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching 67
Presence of 1q gain and absence of 7p gain are new predictors of local or metatastic relapse in localized resectable neuroblastoma. 67
The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications 67
identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene 66
The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome 66
order of six loci at 2q24-q31 and orientation of the HOXD locus 65
Generation of iPSC lines derived from skin fibroblasts of two healthy controls using non-transmissible form of Sendai Virus 63
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter. 63
Human FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genes 62
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 55
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 53
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome. 52
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 49
Argo Delphi consensus statement on red flags and clinical gateways towards rare disease diagnosis 14
Totale 8.411
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Categoria #
all - tutte 35.495
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 35.495
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022342 0 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
2025/20262.724 210 228 307 338 394 114 494 105 203 160 99 72
2026/2027159 53 106 0 0 0 0 0 0 0 0 0 0
Totale 8.411