IRIS
ZUFFARDI, ORSETTA
 Distribuzione geografica
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Continente #
NA - Nord America 11.534
AS - Asia 8.734
EU - Europa 7.886
SA - Sud America 941
AF - Africa 117
OC - Oceania 40
Continente sconosciuto - Info sul continente non disponibili 10
Totale 29.262
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Nazione #
US - Stati Uniti d'America 11.332
CN - Cina 5.231
IE - Irlanda 1.886
SG - Singapore 1.803
UA - Ucraina 1.278
DE - Germania 1.030
FI - Finlandia 1.011
HK - Hong Kong 956
RU - Federazione Russa 831
BR - Brasile 768
SE - Svezia 508
IT - Italia 441
GB - Regno Unito 406
VN - Vietnam 289
FR - Francia 156
CA - Canada 122
IN - India 76
JP - Giappone 74
BE - Belgio 68
AR - Argentina 64
MX - Messico 61
BD - Bangladesh 56
PL - Polonia 49
EC - Ecuador 43
IQ - Iraq 39
CZ - Repubblica Ceca 38
TR - Turchia 37
ZA - Sudafrica 36
MA - Marocco 34
ES - Italia 32
NL - Olanda 31
AU - Australia 30
AT - Austria 28
ID - Indonesia 23
LT - Lituania 23
VE - Venezuela 20
AE - Emirati Arabi Uniti 14
AZ - Azerbaigian 14
UZ - Uzbekistan 14
CO - Colombia 12
MU - Mauritius 12
PK - Pakistan 12
CH - Svizzera 11
IR - Iran 11
SA - Arabia Saudita 11
IL - Israele 10
PY - Paraguay 10
AL - Albania 9
EU - Europa 9
TN - Tunisia 9
JO - Giordania 8
NZ - Nuova Zelanda 8
KE - Kenya 7
KG - Kirghizistan 7
OM - Oman 7
PE - Perù 7
UY - Uruguay 7
PH - Filippine 6
BO - Bolivia 5
EE - Estonia 5
KZ - Kazakistan 5
LB - Libano 5
RO - Romania 5
BY - Bielorussia 4
CL - Cile 4
EG - Egitto 4
HN - Honduras 4
KW - Kuwait 4
LV - Lettonia 4
NO - Norvegia 4
SK - Slovacchia (Repubblica Slovacca) 4
BG - Bulgaria 3
CR - Costa Rica 3
DZ - Algeria 3
ET - Etiopia 3
GR - Grecia 3
HR - Croazia 3
JM - Giamaica 3
KR - Corea 3
LA - Repubblica Popolare Democratica del Laos 3
MK - Macedonia 3
PT - Portogallo 3
BA - Bosnia-Erzegovina 2
BH - Bahrain 2
GT - Guatemala 2
HU - Ungheria 2
LU - Lussemburgo 2
NP - Nepal 2
PA - Panama 2
SY - Repubblica araba siriana 2
TT - Trinidad e Tobago 2
AO - Angola 1
BB - Barbados 1
CI - Costa d'Avorio 1
CY - Cipro 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
GD - Grenada 1
GE - Georgia 1
GM - Gambi 1
Totale 29.242
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Città #
Chandler 1.927
Dublin 1.884
Jacksonville 1.593
Nanjing 1.263
Hong Kong 945
Dallas 936
Ashburn 843
Singapore 750
Beijing 725
Boardman 627
Nanchang 529
Princeton 391
Lawrence 369
Shenyang 354
Hebei 343
Wilmington 326
Changsha 309
Medford 303
Jiaxing 290
Ann Arbor 275
Helsinki 268
Los Angeles 266
New York 245
Munich 234
Tianjin 224
Hangzhou 183
Moscow 157
Buffalo 137
Shanghai 137
Redondo Beach 133
Ho Chi Minh City 110
Milan 110
Woodbridge 93
Tokyo 70
Turku 70
São Paulo 69
Brussels 68
Hanoi 63
Verona 60
Pavia 59
Norwalk 57
The Dalles 53
Des Moines 50
Toronto 47
San Francisco 41
Seattle 41
Warsaw 41
Zhengzhou 39
Kunming 38
Brooklyn 35
Rio de Janeiro 35
Fairfield 34
Stockholm 34
Chicago 31
Nuremberg 30
Falkenstein 29
London 29
Orem 29
Jinan 28
Denver 27
Montreal 27
Santa Clara 26
Mexico City 25
Ningbo 25
Boston 24
Brno 24
Guangzhou 23
Houston 23
Manchester 22
Phoenix 22
Chennai 21
Rome 21
Columbus 20
Lanzhou 20
Oujda 19
Sydney 19
Auburn Hills 18
Frankfurt am Main 18
Poplar 18
Quito 18
Atlanta 17
Belo Horizonte 17
Dearborn 17
Ankara 16
Hefei 16
Johannesburg 16
Mumbai 16
Baghdad 15
San Jose 15
Secaucus 15
Vienna 14
Baku 13
Haiphong 13
Washington 13
Brasília 12
Curitiba 12
Dhaka 12
Guayaquil 12
Tashkent 12
Da Nang 11
Totale 19.203
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Nome #
Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature 249
Disegnare, attraversare, cancellare i confini. una prospettiva interdisciplinare 188
A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics. 148
A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected standard karyotype. 140
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 134
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 134
A new chromosome instability disorder 133
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. 133
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia. 132
Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. 131
Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangements? 130
Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011. 130
A Data Fusion Approach to Enhance Association Study in Epilepsy 130
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia. 127
5p13 microduplication syndrome: a new case and better clinical definition of the syndrome. 127
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 126
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 124
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 124
A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. 122
Patologia ereditaria da gain of function 121
A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies. 119
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. 119
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus 119
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. 119
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome 119
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome 118
Frequencies and types of chromosome abnormalities associated with human male infertility 117
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation. 117
Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke 116
Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs 115
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion 115
Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy 114
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. 113
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. 112
8.5 Mb deletion at distal 5p in a male ascertained for azoospermia. 112
2q24-q31 deletion: report of a case and review of the literature. 111
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome). 111
15/15 translocation in Prader-Willi syndrome. 111
"Jumping" satellites in three generations: a warning for paternity tests and prenatal diagnosis. 110
Genomic alterations in human umbilical cord-derived mesenchymal stromal cells call for stringent quality control before any possible therapeutic approach. 110
High resolution genome-wide array-comparative genomic hybridization in splenic marginal zone B-cell lymphoma 109
Blood cell mitochondrial DNA content and premature ovarian aging 109
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome 108
Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era? 108
CD5(-) diffuse large B-cell lymphoma with peculiar cyclin D1+ phenotype. Pathologic and molecular characterization of a single case 108
22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature. 107
A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q. 106
Ribosomal RNA in infertile male carriers of Robertsonian translocations 106
A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage 106
Unexpected results in the constitution of small supernumerary marker chromosomes. 106
A deletion of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis 104
MEF2C deletions and mutations versus duplications: a clinical comparison. 104
Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern. 104
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 104
Disseminated Mycobacterium Avium Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of IFNGR1 for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant 104
A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation and dysmorphisms. 103
Anticentroameric antibodies and inactive centromeres 103
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions. 103
Correlation between genomic alterations assessed by array comparative genomic hybridization, prognostically informative histologic subtype, stage, and patient survival in gastric cancer. 103
"Cri du chat" syndrome due to a complex rearrangement of chromosome 5 103
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. 102
Reduced phenotypic effetc of partial trisomy 1q in a X/1 translocation. 102
Nullisomy for the distal portion of Xp in a male child with a X/Y translocation. 102
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy. 102
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications 102
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. 102
An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis 102
Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences. 101
A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype 101
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. 100
Localization of factors controlling spermatogenesis in the nonfluoresecent portion of the human Y chromosome long arm. 100
A wide methodological approach to identify a large duplication in CFTR gene in a CF patinet uncharacterised by sequencing analysis. 100
De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia. 100
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. 99
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. 99
20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: narrowing of the 9p duplication critical region to 6 Mb. 99
Deletion 2q31.2-q31.3 in a 4 year old girl with microcephaly and severe mental retardation 98
Chromosome abnormalities and male infertility. Oligozoospermia: recent progress in andrology 98
A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype 98
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. 97
Orign and clinical significance of inv dup(15) 97
Immunodeficiency, centromeric heterochromatin instability of chromosome 1, 9 and 16 and facial anomalies: the ICF syndrome. 97
A novel mechnaism for the origin of supernumerary marker chromosomes 97
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal 97
Confini e medicina di precisione in coppie consanguinee di migranti: la ricezione della consulenza genetica successiva all'identificazione di patologie fetali 97
Cortical malformations and COL4A1 mutation: Three new cases 97
The 9p- deletion syndrome. A patient with a 45,XX,-9,-15,+t(9/15) constitution due to maternal 3:1 meiotic disjunction. 96
APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes 96
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association 96
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. 95
Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome 95
BSu restriction of DNA from cases exhibiting sex chromosom abnormalities. 94
The "cat eye syndrome": dicentric small marker chromosome probably derived from a n. 22 (tetrasomy 22pter-->q11) associated with a characteristic phenotype. 94
Alternate centromere inactivation in a pseudodicentric (15;20) associated with a progressive neurological disorder 94
Functional and genetic aberrations of in vitro cultured marrow-derived mesenchymal stromal cells of patients with classical Philedelphia-negative myeloproliferative neoplasms 93
Heterozygous deletion of CHL1 gene: Detailed array-CGH and clinical characterization of a new case and review of the literature. 93
Presumptive mosaic origin of an XX/XY female with ambiguous genitalia 93
Translocation t(2;12)(p25;21q) classè d'abord comme 2/X. 92
Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion. 92
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. 92
Totale 11.089
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Categoria #
all - tutte 122.363
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 122.363
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.499 0 0 0 0 0 317 13 348 87 344 320 70
2021/20221.613 17 20 24 14 18 60 31 109 96 24 234 966
2022/20235.501 634 399 74 444 600 567 34 282 2.243 45 124 55
2023/20241.804 195 375 45 111 199 462 32 150 14 59 40 122
2024/20254.860 69 437 154 182 54 232 230 421 1.214 143 529 1.195
2025/20265.841 808 1.022 1.171 1.178 1.280 382 0 0 0 0 0 0
Totale 29.477