IRIS
ZUFFARDI, ORSETTA
 Distribuzione geografica
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Continente #
NA - Nord America 13.863
AS - Asia 10.465
EU - Europa 8.502
SA - Sud America 1.222
AF - Africa 337
OC - Oceania 44
Continente sconosciuto - Info sul continente non disponibili 12
Totale 34.445
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Nazione #
US - Stati Uniti d'America 13.577
CN - Cina 5.395
SG - Singapore 2.285
IE - Irlanda 1.895
UA - Ucraina 1.284
HK - Hong Kong 1.098
DE - Germania 1.067
FI - Finlandia 1.015
BR - Brasile 886
RU - Federazione Russa 849
VN - Vietnam 788
FR - Francia 514
IT - Italia 514
SE - Svezia 512
GB - Regno Unito 438
ZA - Sudafrica 181
IN - India 161
CA - Canada 148
BD - Bangladesh 131
AR - Argentina 118
JP - Giappone 110
MX - Messico 85
BE - Belgio 70
IQ - Iraq 67
EC - Ecuador 63
TR - Turchia 61
MA - Marocco 54
NL - Olanda 53
PL - Polonia 52
CO - Colombia 43
PK - Pakistan 43
CZ - Repubblica Ceca 41
ES - Italia 39
VE - Venezuela 39
ID - Indonesia 37
SA - Arabia Saudita 35
AU - Australia 34
PH - Filippine 34
UZ - Uzbekistan 29
AT - Austria 28
LT - Lituania 24
AZ - Azerbaigian 21
AE - Emirati Arabi Uniti 20
MY - Malesia 20
PY - Paraguay 17
TN - Tunisia 17
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
RO - Romania 10
CR - Costa Rica 9
DZ - Algeria 9
EU - Europa 9
HN - Honduras 8
KG - Kirghizistan 8
LB - Libano 8
NP - Nepal 8
NZ - Nuova Zelanda 8
BY - Bielorussia 7
DO - Repubblica Dominicana 7
KW - Kuwait 7
GR - Grecia 6
JM - Giamaica 6
NO - Norvegia 6
PT - Portogallo 6
SN - Senegal 6
CI - Costa d'Avorio 5
EE - Estonia 5
HU - Ungheria 5
SK - Slovacchia (Repubblica Slovacca) 5
TT - Trinidad e Tobago 5
BG - Bulgaria 4
GT - Guatemala 4
HR - Croazia 4
LA - Repubblica Popolare Democratica del Laos 4
LV - Lettonia 4
PS - Palestinian Territory 4
AO - Angola 3
BA - Bosnia-Erzegovina 3
KH - Cambogia 3
KR - Corea 3
MD - Moldavia 3
MK - Macedonia 3
NI - Nicaragua 3
PA - Panama 3
RS - Serbia 3
XK - ???statistics.table.value.countryCode.XK??? 3
BB - Barbados 2
Totale 34.395
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Città #
Chandler 1.927
Dublin 1.893
Jacksonville 1.594
San Jose 1.306
Nanjing 1.264
Singapore 1.125
Ashburn 1.113
Hong Kong 1.063
Dallas 959
Beijing 738
Boardman 632
Nanchang 529
Princeton 392
Lawrence 369
Shenyang 354
Hebei 343
Lauterbourg 330
Wilmington 327
Changsha 309
Medford 303
Los Angeles 301
Jiaxing 290
Ho Chi Minh City 284
New York 276
Ann Arbor 275
Helsinki 272
Munich 234
Tianjin 225
Hanoi 190
Hangzhou 183
Moscow 158
Buffalo 143
Johannesburg 141
Shanghai 139
Redondo Beach 133
Council Bluffs 120
Milan 116
Tokyo 99
Woodbridge 94
São Paulo 82
Santa Clara 75
Orem 70
Turku 70
Brussels 69
Verona 60
Pavia 59
Norwalk 57
Des Moines 53
The Dalles 53
Toronto 50
San Francisco 45
Da Nang 44
Frankfurt am Main 44
Seattle 42
Warsaw 42
Zhengzhou 40
Chicago 39
Brooklyn 38
Kunming 38
Rio de Janeiro 38
Montreal 37
London 36
Stockholm 36
Chennai 35
Fairfield 34
Nuremberg 33
Denver 30
Mexico City 30
Atlanta 29
Falkenstein 29
Houston 29
Haiphong 28
Jinan 28
Manchester 27
Phoenix 27
Quito 27
Rome 27
Baghdad 26
Dhaka 25
Ningbo 25
Tashkent 25
Boston 24
Brno 24
Guangzhou 24
Sydney 23
Columbus 22
Amsterdam 21
Baku 20
Lanzhou 20
Oujda 20
Auburn Hills 18
Belo Horizonte 18
Mumbai 18
Poplar 18
Ankara 17
Dearborn 17
Guayaquil 16
Hefei 16
Riyadh 16
Secaucus 15
Totale 22.641
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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 221
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 166
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 165
A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics. 162
A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected standard karyotype. 161
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. 158
5p13 microduplication syndrome: a new case and better clinical definition of the syndrome. 157
Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangements? 154
A new chromosome instability disorder 154
A Data Fusion Approach to Enhance Association Study in Epilepsy 151
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 150
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 149
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. 148
A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. 146
Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. 145
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia. 143
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. 142
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 142
Patologia ereditaria da gain of function 141
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus 139
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. 137
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation. 136
Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011. 136
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome 135
Frequencies and types of chromosome abnormalities associated with human male infertility 135
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. 133
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. 133
Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke 132
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome 131
A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies. 130
Genomic alterations in human umbilical cord-derived mesenchymal stromal cells call for stringent quality control before any possible therapeutic approach. 130
2q24-q31 deletion: report of a case and review of the literature. 129
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome 128
Blood cell mitochondrial DNA content and premature ovarian aging 127
Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs 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
Nullisomy for the distal portion of Xp in a male child with a X/Y translocation. 126
Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion. 126
22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature. 126
Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy 126
8.5 Mb deletion at distal 5p in a male ascertained for azoospermia. 126
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome). 124
High resolution genome-wide array-comparative genomic hybridization in splenic marginal zone B-cell lymphoma 124
CD5(-) diffuse large B-cell lymphoma with peculiar cyclin D1+ phenotype. Pathologic and molecular characterization of a single case 124
Reduced phenotypic effetc of partial trisomy 1q in a X/1 translocation. 124
A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype 123
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 122
A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage 121
A deletion of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis 121
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications 121
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 121
Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era? 120
"Cri du chat" syndrome due to a complex rearrangement of chromosome 5 120
Anticentroameric antibodies and inactive centromeres 119
Unexpected results in the constitution of small supernumerary marker chromosomes. 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
15/15 translocation in Prader-Willi syndrome. 118
Ribosomal RNA in infertile male carriers of Robertsonian translocations 118
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. 117
A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation and dysmorphisms. 117
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. 117
Chromosome abnormalities and male infertility. Oligozoospermia: recent progress in andrology 117
MEF2C deletions and mutations versus duplications: a clinical comparison. 117
An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis 117
Correlation between genomic alterations assessed by array comparative genomic hybridization, prognostically informative histologic subtype, stage, and patient survival in gastric cancer. 116
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. 116
Confini e medicina di precisione in coppie consanguinee di migranti: la ricezione della consulenza genetica successiva all'identificazione di patologie fetali 116
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. 115
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. 115
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
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association 115
Cortical malformations and COL4A1 mutation: Three new cases 115
Deletion 2q31.2-q31.3 in a 4 year old girl with microcephaly and severe mental retardation 114
Localization of factors controlling spermatogenesis in the nonfluoresecent portion of the human Y chromosome long arm. 114
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. 114
Chromosome abnormalities and male sterility 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
A wide methodological approach to identify a large duplication in CFTR gene in a CF patinet uncharacterised by sequencing analysis. 113
Immunodeficiency, centromeric heterochromatin instability of chromosome 1, 9 and 16 and facial anomalies: the ICF syndrome. 113
A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype 113
Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern. 113
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal 113
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. 113
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. 111
The "cat eye syndrome": dicentric small marker chromosome probably derived from a n. 22 (tetrasomy 22pter-->q11) associated with a characteristic phenotype. 111
APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes 111
Presumptive mosaic origin of an XX/XY female with ambiguous genitalia 111
Indirect immunofluorescence of inactive centromeres as indicator of centromeric function 110
Orign and clinical significance of inv dup(15) 110
De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia. 110
Heterozygous deletion of CHL1 gene: Detailed array-CGH and clinical characterization of a new case and review of the literature. 110
The 9p- deletion syndrome. A patient with a 45,XX,-9,-15,+t(9/15) constitution due to maternal 3:1 meiotic disjunction. 109
Alternate centromere inactivation in a pseudodicentric (15;20) associated with a progressive neurological disorder 107
Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences. 107
A newborn with ambiguous genitalia and a complex X;Y rearrangement. 107
Totale 12.813
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Categoria #
all - tutte 141.236
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 141.236
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/202610.888 808 1.022 1.171 1.178 1.280 529 2.176 404 920 749 395 256
2026/2027137 137 0 0 0 0 0 0 0 0 0 0 0
Totale 34.661