ZUFFARDI, ORSETTA
 Distribuzione geografica
Continente #
NA - Nord America 8.089
EU - Europa 6.537
AS - Asia 4.583
OC - Oceania 23
AF - Africa 14
Continente sconosciuto - Info sul continente non disponibili 9
SA - Sud America 9
Totale 19.264
Nazione #
US - Stati Uniti d'America 8.050
CN - Cina 4.533
IE - Irlanda 2.204
UA - Ucraina 1.266
FI - Finlandia 872
DE - Germania 704
SE - Svezia 472
IT - Italia 355
GB - Regno Unito 286
BE - Belgio 187
FR - Francia 129
CA - Canada 37
AU - Australia 19
IN - India 14
NL - Olanda 14
RU - Federazione Russa 13
MU - Mauritius 12
EU - Europa 9
TR - Turchia 8
CZ - Repubblica Ceca 7
IR - Iran 7
CH - Svizzera 6
HK - Hong Kong 5
NZ - Nuova Zelanda 4
PL - Polonia 4
BR - Brasile 3
ES - Italia 3
IL - Israele 3
LA - Repubblica Popolare Democratica del Laos 3
PE - Perù 3
RO - Romania 3
AE - Emirati Arabi Uniti 2
AZ - Azerbaigian 2
BA - Bosnia-Erzegovina 2
JP - Giappone 2
LV - Lettonia 2
MK - Macedonia 2
AR - Argentina 1
BG - Bulgaria 1
CL - Cile 1
CO - Colombia 1
DO - Repubblica Dominicana 1
EE - Estonia 1
HR - Croazia 1
HU - Ungheria 1
IM - Isola di Man 1
KR - Corea 1
MA - Marocco 1
MX - Messico 1
PT - Portogallo 1
SA - Arabia Saudita 1
SG - Singapore 1
TN - Tunisia 1
VN - Vietnam 1
Totale 19.264
Città #
Dublin 2.202
Chandler 1.927
Jacksonville 1.591
Nanjing 1.260
Ashburn 531
Nanchang 527
Shenzhen 447
Princeton 391
Lawrence 369
Shenyang 351
Hebei 343
Wilmington 325
Beijing 305
Medford 303
Changsha 300
Jiaxing 290
Ann Arbor 275
Tianjin 210
Boardman 208
Helsinki 205
Brussels 187
Hangzhou 177
New York 161
Milan 97
Woodbridge 93
Shanghai 64
Verona 60
Pavia 59
Norwalk 57
Des Moines 50
Kunming 36
Seattle 35
Fairfield 34
Toronto 26
Ningbo 24
Zhengzhou 24
Jinan 20
Auburn Hills 18
Lanzhou 18
San Francisco 18
Dearborn 16
Hefei 14
Washington 13
Los Angeles 12
Falls Church 10
Guangzhou 10
Orange 10
Pune 10
Taizhou 10
Houston 9
Sydney 8
Berlin 7
Fuzhou 7
Tappahannock 7
Borås 6
Falkenstein 6
Melbourne 6
Brno 5
Florence 5
Redwood City 5
Seelze 5
Portland 4
Saint Petersburg 4
San Antonio 4
Turin 4
Zurich 4
Canberra 3
Cernusco sul Naviglio 3
Changchun 3
Haikou 3
Huizen 3
Leawood 3
Lima 3
London 3
Paris 3
Redmond 3
Rockville 3
Timisoara 3
Warsaw 3
Andover 2
Auckland 2
Baku 2
Bergamo 2
Canelli 2
Catanzaro 2
Central 2
Chicago 2
Chieti 2
Dubai 2
Gunzenhausen 2
Hong Kong 2
Kemerovo 2
Kish 2
Markham 2
Mountain View 2
North Palm Beach 2
Novokuznetsk 2
Phoenix 2
Rome 2
Sacramento 2
Totale 13.900
Nome #
Blood cell mitochondrial DNA content and premature ovarian aging 513
Disegnare, attraversare, cancellare i confini. una prospettiva interdisciplinare 106
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. 97
A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics. 92
Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangements? 91
Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. 91
Patologia ereditaria da gain of function 90
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 90
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome 88
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion 88
Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy 87
Unexpected results in the constitution of small supernumerary marker chromosomes. 86
A new chromosome instability disorder 83
Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern. 83
Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences. 82
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. 80
Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs 80
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. 79
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. 79
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 78
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. 77
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. 76
8.5 Mb deletion at distal 5p in a male ascertained for azoospermia. 75
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome 74
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation. 74
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus 73
22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature. 73
High resolution genome-wide array-comparative genomic hybridization in splenic marginal zone B-cell lymphoma 72
15/15 translocation in Prader-Willi syndrome. 72
A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q. 71
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. 71
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 71
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy. 71
A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies. 70
2q24-q31 deletion: report of a case and review of the literature. 70
"Jumping" satellites in three generations: a warning for paternity tests and prenatal diagnosis. 69
Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era? 69
MEF2C deletions and mutations versus duplications: a clinical comparison. 69
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. 68
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. 68
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions. 68
5p13 microduplication syndrome: a new case and better clinical definition of the syndrome. 68
Genomic alterations in human umbilical cord-derived mesenchymal stromal cells call for stringent quality control before any possible therapeutic approach. 68
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. 68
CD5(-) diffuse large B-cell lymphoma with peculiar cyclin D1+ phenotype. Pathologic and molecular characterization of a single case 67
Deletion 2q31.2-q31.3 in a 4 year old girl with microcephaly and severe mental retardation 67
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 67
A patient with maternal chromosome 14 UDP presenting with a mild phenotype and MODY. 66
Anticentroameric antibodies and inactive centromeres 66
Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes 66
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications 66
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal 66
The 9p- deletion syndrome. A patient with a 45,XX,-9,-15,+t(9/15) constitution due to maternal 3:1 meiotic disjunction. 65
A wide methodological approach to identify a large duplication in CFTR gene in a CF patinet uncharacterised by sequencing analysis. 64
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome 64
Heterozygous deletion of CHL1 gene: Detailed array-CGH and clinical characterization of a new case and review of the literature. 64
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. 64
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH. 64
Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum developement 64
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH. 63
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome). 63
Inverted duplications deletions: underdiagnosed rearrangements?? 63
Ribosomal RNA in infertile male carriers of Robertsonian translocations 63
A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage 63
Duplication of the short arm of chromosome 9. Analysis of five cases. 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
Correlation between genomic alterations assessed by array comparative genomic hybridization, prognostically informative histologic subtype, stage, and patient survival in gastric cancer. 63
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 63
Preferential maternal derivation in inv dup (15): analysis of eight new cases 62
Yq deletion in fetal syndrome 62
Periventricular heterotopia in fragile X syndrome. 62
A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation and dysmorphisms. 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
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. 62
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25 62
A novel mechnaism for the origin of supernumerary marker chromosomes 62
Functional and genetic aberrations of in vitro cultured marrow-derived mesenchymal stromal cells of patients with classical Philedelphia-negative myeloproliferative neoplasms 62
A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28 61
Eyebrow anomalies as a diagnostic sign of genomic disorders. 61
Chromosome abnormalities and male infertility. Oligozoospermia: recent progress in andrology 61
Translocation t(2;12)(p25;21q) classè d'abord comme 2/X. 61
Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short arm. 61
De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia. 61
Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings. 61
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. 60
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. 60
Characterization of a recurrent 15q24 microdeletion syndrome. 60
Indirect immunofluorescence of inactive centromeres as indicator of centromeric function 60
Alternate centromere inactivation in a pseudodicentric (15;20) associated with a progressive neurological disorder 60
Cognitive and behavioral phenotype of a young man with a chromosome 13 deletion del(13)(q21.32q31.1). 60
APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes 60
"Cri du chat" syndrome due to a complex rearrangement of chromosome 5 60
Presumptive mosaic origin of an XX/XY female with ambiguous genitalia 60
ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations.. 59
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. 59
Localization of factors controlling spermatogenesis in the nonfluoresecent portion of the human Y chromosome long arm. 59
The "cat eye syndrome": dicentric small marker chromosome probably derived from a n. 22 (tetrasomy 22pter-->q11) associated with a characteristic phenotype. 59
Orign and clinical significance of inv dup(15) 59
Indirect immunofluorescence of inactive centromere as indicator of centromeric function 59
Totale 7.395
Categoria #
all - tutte 56.599
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 56.599


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019317 0 0 0 0 0 0 0 0 263 16 11 27
2019/20204.949 1.408 2.075 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
2022/20235.901 634 399 74 444 600 567 44 291 2.555 97 140 56
2023/20242.102 202 387 495 132 230 462 32 150 12 0 0 0
Totale 19.474