IRIS
ZUFFARDI, ORSETTA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 12.435
AS - Asia 9.069
EU - Europa 7.911
SA - Sud America 949
AF - Africa 118
OC - Oceania 40
Continente sconosciuto - Info sul continente non disponibili 10
Totale 30.532
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 12.232
CN - Cina 5.262
SG - Singapore 1.985
IE - Irlanda 1.887
UA - Ucraina 1.278
HK - Hong Kong 1.047
DE - Germania 1.033
FI - Finlandia 1.011
RU - Federazione Russa 832
BR - Brasile 774
SE - Svezia 508
IT - Italia 441
GB - Regno Unito 406
VN - Vietnam 295
FR - Francia 174
CA - Canada 122
JP - Giappone 83
IN - India 76
BE - Belgio 68
AR - Argentina 64
MX - Messico 62
BD - Bangladesh 58
PL - Polonia 49
EC - Ecuador 44
IQ - Iraq 40
CZ - Repubblica Ceca 38
TR - Turchia 37
ZA - Sudafrica 36
MA - Marocco 34
NL - Olanda 33
ES - Italia 32
AU - Australia 30
AT - Austria 28
ID - Indonesia 24
LT - Lituania 23
VE - Venezuela 21
UZ - Uzbekistan 16
AE - Emirati Arabi Uniti 15
AZ - Azerbaigian 14
PK - Pakistan 13
CO - Colombia 12
MU - Mauritius 12
CH - Svizzera 11
IR - Iran 11
SA - Arabia Saudita 11
IL - Israele 10
PY - Paraguay 10
AL - Albania 9
EU - Europa 9
PH - Filippine 9
TN - Tunisia 9
JO - Giordania 8
KE - Kenya 8
NZ - Nuova Zelanda 8
KG - Kirghizistan 7
OM - Oman 7
PE - Perù 7
UY - Uruguay 7
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
LA - Repubblica Popolare Democratica del Laos 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
MK - Macedonia 3
PT - Portogallo 3
BA - Bosnia-Erzegovina 2
BH - Bahrain 2
GT - Guatemala 2
HU - Ungheria 2
LU - Lussemburgo 2
MY - Malesia 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
Totale 30.509
Salva come PNG Salva come JPEG
Città #
Chandler 1.927
Dublin 1.885
Jacksonville 1.593
Nanjing 1.263
Hong Kong 1.031
Dallas 936
Singapore 929
Ashburn 893
San Jose 839
Beijing 725
Boardman 627
Nanchang 529
Princeton 391
Lawrence 369
Shenyang 354
Hebei 343
Wilmington 326
Changsha 309
Medford 303
Jiaxing 290
Los Angeles 279
Ann Arbor 275
Helsinki 268
New York 245
Munich 234
Tianjin 224
Hangzhou 183
Moscow 157
Buffalo 137
Shanghai 137
Redondo Beach 133
Ho Chi Minh City 111
Milan 110
Woodbridge 93
Tokyo 74
São Paulo 70
Turku 70
Brussels 68
Hanoi 64
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 33
Nuremberg 30
Orem 30
Falkenstein 29
London 29
Santa Clara 29
Jinan 28
Denver 27
Montreal 27
Mexico City 25
Ningbo 25
Boston 24
Brno 24
Guangzhou 23
Houston 23
Manchester 22
Phoenix 22
Chennai 21
Frankfurt am Main 21
Lauterbourg 21
Rome 21
Columbus 20
Lanzhou 20
Oujda 19
Quito 19
Sydney 19
Auburn Hills 18
Poplar 18
Atlanta 17
Belo Horizonte 17
Dearborn 17
Ankara 16
Hefei 16
Johannesburg 16
Mumbai 16
Baghdad 15
Secaucus 15
Vienna 14
Baku 13
Haiphong 13
Tashkent 13
Washington 13
Brasília 12
Curitiba 12
Da Nang 12
Dhaka 12
Totale 20.384
Salva come PNG Salva come JPEG
Nome #
Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature 259
Disegnare, attraversare, cancellare i confini. una prospettiva interdisciplinare 194
A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics. 150
A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected standard karyotype. 146
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. 140
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 139
Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangements? 136
A new chromosome instability disorder 136
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. 136
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 136
A Data Fusion Approach to Enhance Association Study in Epilepsy 135
Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. 133
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 133
5p13 microduplication syndrome: a new case and better clinical definition of the syndrome. 132
Patologia ereditaria da gain of function 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 novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 130
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 130
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia. 129
A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. 127
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus 126
Frequencies and types of chromosome abnormalities associated with human male infertility 125
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. 124
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. 124
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome 123
A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies. 122
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation. 122
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome 120
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion 119
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. 118
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. 118
Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy 118
Genomic alterations in human umbilical cord-derived mesenchymal stromal cells call for stringent quality control before any possible therapeutic approach. 117
Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke 117
Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs 116
2q24-q31 deletion: report of a case and review of the literature. 115
8.5 Mb deletion at distal 5p in a male ascertained for azoospermia. 115
"Jumping" satellites in three generations: a warning for paternity tests and prenatal diagnosis. 114
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome). 113
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome 113
High resolution genome-wide array-comparative genomic hybridization in splenic marginal zone B-cell lymphoma 113
Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era? 113
15/15 translocation in Prader-Willi syndrome. 113
Nullisomy for the distal portion of Xp in a male child with a X/Y translocation. 113
22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature. 113
CD5(-) diffuse large B-cell lymphoma with peculiar cyclin D1+ phenotype. Pathologic and molecular characterization of a single case 111
Blood cell mitochondrial DNA content and premature ovarian aging 111
A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q. 110
A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage 110
Reduced phenotypic effetc of partial trisomy 1q in a X/1 translocation. 110
Ribosomal RNA in infertile male carriers of Robertsonian translocations 109
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 109
Anticentroameric antibodies and inactive centromeres 108
Unexpected results in the constitution of small supernumerary marker chromosomes. 108
MEF2C deletions and mutations versus duplications: a clinical comparison. 108
A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation and dysmorphisms. 107
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions. 107
A deletion of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis 107
Correlation between genomic alterations assessed by array comparative genomic hybridization, prognostically informative histologic subtype, stage, and patient survival in gastric cancer. 107
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications 107
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 107
"Cri du chat" syndrome due to a complex rearrangement of chromosome 5 107
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy. 106
A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype 106
An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis 106
Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern. 105
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. 105
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. 104
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. 104
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. 104
De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia. 104
Localization of factors controlling spermatogenesis in the nonfluoresecent portion of the human Y chromosome long arm. 103
A wide methodological approach to identify a large duplication in CFTR gene in a CF patinet uncharacterised by sequencing analysis. 103
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. 103
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. 102
A novel mechnaism for the origin of supernumerary marker chromosomes 102
Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion. 102
A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype 102
Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences. 102
Confini e medicina di precisione in coppie consanguinee di migranti: la ricezione della consulenza genetica successiva all'identificazione di patologie fetali 102
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. 101
Deletion 2q31.2-q31.3 in a 4 year old girl with microcephaly and severe mental retardation 101
Chromosome abnormalities and male infertility. Oligozoospermia: recent progress in andrology 101
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. 101
APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes 101
The "cat eye syndrome": dicentric small marker chromosome probably derived from a n. 22 (tetrasomy 22pter-->q11) associated with a characteristic phenotype. 100
Immunodeficiency, centromeric heterochromatin instability of chromosome 1, 9 and 16 and facial anomalies: the ICF syndrome. 100
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal 100
BSu restriction of DNA from cases exhibiting sex chromosom abnormalities. 99
The 9p- deletion syndrome. A patient with a 45,XX,-9,-15,+t(9/15) constitution due to maternal 3:1 meiotic disjunction. 99
Orign and clinical significance of inv dup(15) 99
Cortical malformations and COL4A1 mutation: Three new cases 99
Heterozygous deletion of CHL1 gene: Detailed array-CGH and clinical characterization of a new case and review of the literature. 98
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association 98
Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome 98
Alternate centromere inactivation in a pseudodicentric (15;20) associated with a progressive neurological disorder 97
Chromosome abnormalities and male sterility 97
Presumptive mosaic origin of an XX/XY female with ambiguous genitalia 97
Indirect immunofluorescence of inactive centromeres as indicator of centromeric function 96
Translocation t(2;12)(p25;21q) classè d'abord comme 2/X. 96
Totale 11.511
Salva come PNG Salva come JPEG
Categoria #
all - tutte 125.279
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 125.279
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.182 0 0 0 0 0 0 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
2025/20267.111 808 1.022 1.171 1.178 1.280 529 1.123 0 0 0 0 0
Totale 30.747