IRIS
ZUFFARDI, ORSETTA
 Distribuzione geografica
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Continente #
NA - Nord America 8.599
EU - Europa 6.143
AS - Asia 4.376
OC - Oceania 33
AF - Africa 16
SA - Sud America 10
Continente sconosciuto - Info sul continente non disponibili 9
Totale 19.186
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Nazione #
US - Stati Uniti d'America 8.556
CN - Cina 4.157
IE - Irlanda 1.883
UA - Ucraina 1.266
FI - Finlandia 876
DE - Germania 705
SE - Svezia 472
IT - Italia 370
GB - Regno Unito 288
SG - Singapore 133
FR - Francia 130
BE - Belgio 63
CA - Canada 41
JP - Giappone 33
AU - Australia 29
CZ - Repubblica Ceca 26
RU - Federazione Russa 16
NL - Olanda 15
IN - India 14
MU - Mauritius 12
EU - Europa 9
TR - Turchia 8
IR - Iran 7
CH - Svizzera 6
HK - Hong Kong 5
NZ - Nuova Zelanda 4
PL - Polonia 4
AZ - Azerbaigian 3
BR - Brasile 3
ES - Italia 3
IL - Israele 3
LA - Repubblica Popolare Democratica del Laos 3
LV - Lettonia 3
PE - Perù 3
RO - Romania 3
AE - Emirati Arabi Uniti 2
BA - Bosnia-Erzegovina 2
CL - Cile 2
HR - Croazia 2
KR - Corea 2
MA - Marocco 2
MK - Macedonia 2
AL - Albania 1
AR - Argentina 1
BG - Bulgaria 1
CO - Colombia 1
DO - Repubblica Dominicana 1
EE - Estonia 1
GE - Georgia 1
HU - Ungheria 1
IM - Isola di Man 1
KG - Kirghizistan 1
LT - Lituania 1
MX - Messico 1
PT - Portogallo 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
TN - Tunisia 1
TW - Taiwan 1
UZ - Uzbekistan 1
VN - Vietnam 1
ZA - Sudafrica 1
Totale 19.186
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Città #
Chandler 1.927
Dublin 1.881
Jacksonville 1.591
Nanjing 1.260
Boardman 627
Ashburn 535
Nanchang 527
Princeton 391
Lawrence 369
Shenyang 351
Hebei 343
Wilmington 325
Beijing 305
Medford 303
Changsha 300
Jiaxing 290
Ann Arbor 275
Tianjin 210
Helsinki 209
Hangzhou 177
New York 162
Shanghai 126
Milan 98
Woodbridge 93
Singapore 84
Brussels 63
Verona 60
Pavia 59
Norwalk 57
Des Moines 50
Los Angeles 44
Kunming 36
Seattle 35
Fairfield 34
Tokyo 31
Toronto 28
Brno 24
Ningbo 24
Zhengzhou 24
Jinan 20
Dallas 19
Auburn Hills 18
Lanzhou 18
San Francisco 18
Sydney 18
Dearborn 16
Hefei 14
Washington 13
Falls Church 10
Guangzhou 10
Orange 10
Pune 10
Taizhou 10
Houston 9
Berlin 7
Fuzhou 7
Tappahannock 7
Borås 6
Chicago 6
Falkenstein 6
Melbourne 6
Florence 5
London 5
Redwood City 5
Rome 5
Portland 4
Saint Petersburg 4
San Antonio 4
Turin 4
Zurich 4
Baku 3
Canberra 3
Cernusco sul Naviglio 3
Changchun 3
Frankfurt am Main 3
Haikou 3
Huizen 3
Leawood 3
Lima 3
Moscow 3
Munich 3
Ottawa 3
Paris 3
Phoenix 3
Piscataway 3
Redmond 3
Rockville 3
Timisoara 3
Warsaw 3
Andover 2
Auckland 2
Bergamo 2
Canelli 2
Catanzaro 2
Central 2
Chieti 2
Clifton 2
Dubai 2
Gunzenhausen 2
Hong Kong 2
Totale 13.705
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Nome #
Disegnare, attraversare, cancellare i confini. una prospettiva interdisciplinare 122
A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected standard karyotype. 101
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia. 96
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 92
A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics. 91
Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangements? 90
Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. 90
Patologia ereditaria da gain of function 87
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion 87
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome 86
A new chromosome instability disorder 86
Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy 86
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. 84
Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern. 83
Unexpected results in the constitution of small supernumerary marker chromosomes. 82
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. 80
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. 80
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus 79
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. 78
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. 78
Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences. 78
Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs 77
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. 77
8.5 Mb deletion at distal 5p in a male ascertained for azoospermia. 77
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 77
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 76
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome 76
15/15 translocation in Prader-Willi syndrome. 75
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 74
A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q. 73
High resolution genome-wide array-comparative genomic hybridization in splenic marginal zone B-cell lymphoma 73
Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era? 73
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation. 73
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy. 73
5p13 microduplication syndrome: a new case and better clinical definition of the syndrome. 73
A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies. 72
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. 72
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions. 72
22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature. 72
2q24-q31 deletion: report of a case and review of the literature. 71
"Jumping" satellites in three generations: a warning for paternity tests and prenatal diagnosis. 71
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome 71
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. 70
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. 70
Genomic alterations in human umbilical cord-derived mesenchymal stromal cells call for stringent quality control before any possible therapeutic approach. 69
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. 68
Anticentroameric antibodies and inactive centromeres 68
CD5(-) diffuse large B-cell lymphoma with peculiar cyclin D1+ phenotype. Pathologic and molecular characterization of a single case 68
Deletion 2q31.2-q31.3 in a 4 year old girl with microcephaly and severe mental retardation 68
A wide methodological approach to identify a large duplication in CFTR gene in a CF patinet uncharacterised by sequencing analysis. 68
Blood cell mitochondrial DNA content and premature ovarian aging 68
Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes 68
A patient with maternal chromosome 14 UDP presenting with a mild phenotype and MODY. 67
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome). 67
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications 67
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH. 67
MEF2C deletions and mutations versus duplications: a clinical comparison. 66
Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum developement 66
Inverted duplications deletions: underdiagnosed rearrangements?? 65
Ribosomal RNA in infertile male carriers of Robertsonian translocations 65
Duplication of the short arm of chromosome 9. Analysis of five cases. 65
A novel mechnaism for the origin of supernumerary marker chromosomes 65
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal 65
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 65
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. 64
Periventricular heterotopia in fragile X syndrome. 64
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. 64
The 9p- deletion syndrome. A patient with a 45,XX,-9,-15,+t(9/15) constitution due to maternal 3:1 meiotic disjunction. 64
Translocation t(2;12)(p25;21q) classè d'abord comme 2/X. 64
Heterozygous deletion of CHL1 gene: Detailed array-CGH and clinical characterization of a new case and review of the literature. 64
A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28 63
Preferential maternal derivation in inv dup (15): analysis of eight new cases 63
Yq deletion in fetal syndrome 63
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. 63
A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation and dysmorphisms. 63
A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage 63
A deletion of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis 63
Functional and genetic aberrations of in vitro cultured marrow-derived mesenchymal stromal cells of patients with classical Philedelphia-negative myeloproliferative neoplasms 63
Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short arm. 63
De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia. 63
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH. 62
The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24;q11.21) in a young girl with dysgerminoma. 62
Eyebrow anomalies as a diagnostic sign of genomic disorders. 62
Chromosome abnormalities and male infertility. Oligozoospermia: recent progress in andrology 62
Alternate centromere inactivation in a pseudodicentric (15;20) associated with a progressive neurological disorder 62
Correlation between genomic alterations assessed by array comparative genomic hybridization, prognostically informative histologic subtype, stage, and patient survival in gastric cancer. 62
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 62
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. 61
Characterization of a recurrent 15q24 microdeletion syndrome. 61
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25 61
Cognitive and behavioral phenotype of a young man with a chromosome 13 deletion del(13)(q21.32q31.1). 61
APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes 61
"Cri du chat" syndrome due to a complex rearrangement of chromosome 5 61
Malpuech syndrome: Broadening the clinical spectrum and molecular analysis by array-CGH. 60
Indirect immunofluorescence of inactive centromeres as indicator of centromeric function 60
Localization of factors controlling spermatogenesis in the nonfluoresecent portion of the human Y chromosome long arm. 60
Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion. 60
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene 60
A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype 60
Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings. 60
Totale 7.093
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Categoria #
all - tutte 72.615
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 72.615
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.466 0 0 11 239 9 261 59 261 12 411 197 6
2020/20212.345 301 212 69 252 12 317 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
2024/2025620 69 437 114 0 0 0 0 0 0 0 0 0
Totale 19.396