IRIS
ZUFFARDI, ORSETTA
 Distribuzione geografica
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Continente #
NA - Nord America 13.434
AS - Asia 10.436
EU - Europa 8.446
SA - Sud America 1.196
AF - Africa 337
OC - Oceania 41
Continente sconosciuto - Info sul continente non disponibili 12
Totale 33.902
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Nazione #
US - Stati Uniti d'America 13.167
CN - Cina 5.390
SG - Singapore 2.275
IE - Irlanda 1.895
UA - Ucraina 1.283
HK - Hong Kong 1.097
DE - Germania 1.067
FI - Finlandia 1.015
BR - Brasile 870
RU - Federazione Russa 848
VN - Vietnam 787
SE - Svezia 511
FR - Francia 508
IT - Italia 479
GB - Regno Unito 438
ZA - Sudafrica 181
IN - India 161
CA - Canada 140
BD - Bangladesh 122
AR - Argentina 112
JP - Giappone 109
MX - Messico 84
BE - Belgio 69
IQ - Iraq 67
EC - Ecuador 62
TR - Turchia 61
MA - Marocco 54
PL - Polonia 52
NL - Olanda 51
PK - Pakistan 43
CO - Colombia 41
CZ - Repubblica Ceca 41
VE - Venezuela 39
ES - Italia 37
ID - Indonesia 37
SA - Arabia Saudita 35
PH - Filippine 34
AU - Australia 31
UZ - Uzbekistan 29
AT - Austria 28
LT - Lituania 24
AZ - Azerbaigian 21
AE - Emirati Arabi Uniti 19
MY - Malesia 19
TN - Tunisia 17
PY - Paraguay 16
UY - Uruguay 16
JO - Giordania 15
OM - Oman 15
PE - Perù 15
IL - Israele 14
KE - Kenya 14
MU - Mauritius 14
CL - Cile 13
AL - Albania 12
CH - Svizzera 12
IR - Iran 12
BO - Bolivia 11
EG - Egitto 11
ET - Etiopia 10
KZ - Kazakistan 10
CR - Costa Rica 9
DZ - Algeria 9
EU - Europa 9
RO - Romania 9
KG - Kirghizistan 8
LB - Libano 8
NP - Nepal 8
NZ - Nuova Zelanda 8
DO - Repubblica Dominicana 7
KW - Kuwait 7
BY - Bielorussia 6
GR - Grecia 6
HN - Honduras 6
NO - Norvegia 6
SN - Senegal 6
CI - Costa d'Avorio 5
EE - Estonia 5
HU - Ungheria 5
JM - Giamaica 5
BG - Bulgaria 4
HR - Croazia 4
LA - Repubblica Popolare Democratica del Laos 4
LV - Lettonia 4
PS - Palestinian Territory 4
PT - Portogallo 4
SK - Slovacchia (Repubblica Slovacca) 4
TT - Trinidad e Tobago 4
AO - Angola 3
GT - Guatemala 3
KH - Cambogia 3
KR - Corea 3
MD - Moldavia 3
MK - Macedonia 3
PA - Panama 3
XK - ???statistics.table.value.countryCode.XK??? 3
BA - Bosnia-Erzegovina 2
BH - Bahrain 2
BN - Brunei Darussalam 2
CM - Camerun 2
Totale 33.856
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Città #
Chandler 1.927
Dublin 1.893
Jacksonville 1.593
San Jose 1.272
Nanjing 1.264
Singapore 1.124
Hong Kong 1.062
Ashburn 1.048
Dallas 950
Beijing 737
Boardman 627
Nanchang 529
Princeton 391
Lawrence 369
Shenyang 354
Hebei 343
Lauterbourg 330
Wilmington 326
Changsha 309
Medford 303
Los Angeles 297
Jiaxing 290
Ho Chi Minh City 284
Ann Arbor 275
New York 274
Helsinki 272
Munich 234
Tianjin 225
Hanoi 189
Hangzhou 183
Moscow 158
Johannesburg 141
Buffalo 140
Shanghai 138
Redondo Beach 133
Milan 115
Tokyo 98
Woodbridge 94
São Paulo 81
Turku 70
Brussels 69
Orem 68
Verona 60
Pavia 59
Norwalk 57
Santa Clara 54
Des Moines 53
The Dalles 53
Toronto 50
San Francisco 45
Da Nang 44
Frankfurt am Main 44
Seattle 42
Warsaw 42
Zhengzhou 40
Kunming 38
Rio de Janeiro 38
Brooklyn 36
Chicago 36
London 36
Stockholm 36
Chennai 35
Fairfield 34
Montreal 34
Nuremberg 33
Denver 30
Mexico City 30
Falkenstein 29
Haiphong 28
Jinan 28
Manchester 27
Quito 27
Atlanta 26
Baghdad 26
Houston 26
Phoenix 26
Dhaka 25
Ningbo 25
Tashkent 25
Boston 24
Brno 24
Guangzhou 24
Rome 22
Amsterdam 21
Baku 20
Columbus 20
Lanzhou 20
Oujda 20
Sydney 20
Auburn Hills 18
Mumbai 18
Poplar 18
Ankara 17
Belo Horizonte 17
Dearborn 17
Hefei 16
Riyadh 16
Guayaquil 15
Secaucus 15
Curitiba 14
Totale 22.352
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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 270
Disegnare, attraversare, cancellare i confini. una prospettiva interdisciplinare 220
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 164
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 162
A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics. 161
A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected standard karyotype. 160
5p13 microduplication syndrome: a new case and better clinical definition of the syndrome. 157
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. 154
A new chromosome instability disorder 150
A Data Fusion Approach to Enhance Association Study in Epilepsy 150
Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangements? 149
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 148
A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. 146
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. 145
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 145
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia. 142
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 142
Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. 141
Patologia ereditaria da gain of function 140
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus 138
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. 138
Frequencies and types of chromosome abnormalities associated with human male infertility 134
Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011. 134
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. 133
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. 133
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. 133
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome 132
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation. 132
Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke 131
A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies. 128
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome 128
Genomic alterations in human umbilical cord-derived mesenchymal stromal cells call for stringent quality control before any possible therapeutic approach. 128
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome 127
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion 127
"Jumping" satellites in three generations: a warning for paternity tests and prenatal diagnosis. 126
Blood cell mitochondrial DNA content and premature ovarian aging 126
8.5 Mb deletion at distal 5p in a male ascertained for azoospermia. 126
2q24-q31 deletion: report of a case and review of the literature. 125
Nullisomy for the distal portion of Xp in a male child with a X/Y translocation. 125
Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy 125
CD5(-) diffuse large B-cell lymphoma with peculiar cyclin D1+ phenotype. Pathologic and molecular characterization of a single case 124
Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs 124
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome). 123
Reduced phenotypic effetc of partial trisomy 1q in a X/1 translocation. 123
22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature. 123
High resolution genome-wide array-comparative genomic hybridization in splenic marginal zone B-cell lymphoma 121
A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage 120
A deletion of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis 120
A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype 120
"Cri du chat" syndrome due to a complex rearrangement of chromosome 5 120
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications 119
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 119
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 119
A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q. 118
Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era? 118
15/15 translocation in Prader-Willi syndrome. 118
Unexpected results in the constitution of small supernumerary marker chromosomes. 118
A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation and dysmorphisms. 117
Anticentroameric antibodies and inactive centromeres 117
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. 117
Ribosomal RNA in infertile male carriers of Robertsonian translocations 117
Chromosome abnormalities and male infertility. Oligozoospermia: recent progress in andrology 117
An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis 117
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. 116
MEF2C deletions and mutations versus duplications: a clinical comparison. 116
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions. 115
A novel mechnaism for the origin of supernumerary marker chromosomes 115
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy. 115
Correlation between genomic alterations assessed by array comparative genomic hybridization, prognostically informative histologic subtype, stage, and patient survival in gastric cancer. 115
Confini e medicina di precisione in coppie consanguinee di migranti: la ricezione della consulenza genetica successiva all'identificazione di patologie fetali 115
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. 114
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association 114
Cortical malformations and COL4A1 mutation: Three new cases 114
Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome 114
BSu restriction of DNA from cases exhibiting sex chromosom abnormalities. 113
Deletion 2q31.2-q31.3 in a 4 year old girl with microcephaly and severe mental retardation 113
Localization of factors controlling spermatogenesis in the nonfluoresecent portion of the human Y chromosome long arm. 113
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. 113
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. 113
Chromosome abnormalities and male sterility 113
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. 112
A wide methodological approach to identify a large duplication in CFTR gene in a CF patinet uncharacterised by sequencing analysis. 112
Immunodeficiency, centromeric heterochromatin instability of chromosome 1, 9 and 16 and facial anomalies: the ICF syndrome. 112
A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype 112
Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern. 112
The "cat eye syndrome": dicentric small marker chromosome probably derived from a n. 22 (tetrasomy 22pter-->q11) associated with a characteristic phenotype. 111
Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion. 111
APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes 111
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. 111
Heterozygous deletion of CHL1 gene: Detailed array-CGH and clinical characterization of a new case and review of the literature. 110
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal 110
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. 109
De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia. 109
Presumptive mosaic origin of an XX/XY female with ambiguous genitalia 108
The 9p- deletion syndrome. A patient with a 45,XX,-9,-15,+t(9/15) constitution due to maternal 3:1 meiotic disjunction. 107
Orign and clinical significance of inv dup(15) 107
A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosome 2;7 and 5;20 107
Agenesis of corpus callosum, ocular and skeletal anomalies (x-linked dominant Aicardi's syndrome) 107
Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences. 106
Indirect immunofluorescence of inactive centromeres as indicator of centromeric function 105
Totale 12.654
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Categoria #
all - tutte 133.492
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 133.492
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021390 0 0 0 0 0 0 0 0 0 0 320 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
2025/202610.482 808 1.022 1.171 1.178 1.280 529 2.176 404 920 749 245 0
Totale 34.118