IRIS
MINELLI, ANTONELLA
 Distribuzione geografica
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Continente #
NA - Nord America 2.625
AS - Asia 1.909
EU - Europa 1.656
SA - Sud America 199
AF - Africa 110
OC - Oceania 9
Continente sconosciuto - Info sul continente non disponibili 3
Totale 6.511
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Nazione #
US - Stati Uniti d'America 2.568
CN - Cina 995
SG - Singapore 438
IE - Irlanda 413
UA - Ucraina 199
HK - Hong Kong 186
DE - Germania 185
FI - Finlandia 182
RU - Federazione Russa 181
BR - Brasile 153
IT - Italia 139
VN - Vietnam 123
SE - Svezia 117
GB - Regno Unito 93
FR - Francia 81
ZA - Sudafrica 80
CA - Canada 35
IN - India 32
BD - Bangladesh 21
JP - Giappone 18
AR - Argentina 17
BE - Belgio 17
TR - Turchia 15
IQ - Iraq 13
MX - Messico 12
CO - Colombia 11
EC - Ecuador 11
PK - Pakistan 11
AT - Austria 10
ES - Italia 10
NL - Olanda 10
ID - Indonesia 8
AU - Australia 7
PL - Polonia 7
TN - Tunisia 7
MA - Marocco 6
UZ - Uzbekistan 6
KE - Kenya 5
SA - Arabia Saudita 5
KW - Kuwait 4
PH - Filippine 4
VE - Venezuela 4
AO - Angola 3
AZ - Azerbaigian 3
EU - Europa 3
JM - Giamaica 3
NP - Nepal 3
PS - Palestinian Territory 3
TH - Thailandia 3
AE - Emirati Arabi Uniti 2
AM - Armenia 2
CI - Costa d'Avorio 2
CR - Costa Rica 2
CZ - Repubblica Ceca 2
DO - Repubblica Dominicana 2
EG - Egitto 2
HN - Honduras 2
IR - Iran 2
KR - Corea 2
LB - Libano 2
LT - Lituania 2
MY - Malesia 2
NZ - Nuova Zelanda 2
SI - Slovenia 2
SN - Senegal 2
AD - Andorra 1
BH - Bahrain 1
CY - Cipro 1
DZ - Algeria 1
ET - Etiopia 1
HU - Ungheria 1
IL - Israele 1
JO - Giordania 1
KG - Kirghizistan 1
MD - Moldavia 1
PA - Panama 1
PE - Perù 1
PT - Portogallo 1
PY - Paraguay 1
RS - Serbia 1
SC - Seychelles 1
SK - Slovacchia (Repubblica Slovacca) 1
TM - Turkmenistan 1
UY - Uruguay 1
Totale 6.511
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Città #
Dublin 412
Chandler 350
Dallas 343
Jacksonville 258
Singapore 228
San Jose 220
Nanjing 204
Beijing 195
Ashburn 187
Hong Kong 183
Boardman 106
Nanchang 79
Johannesburg 77
Ann Arbor 62
Princeton 62
Lawrence 59
New York 59
Wilmington 59
Shenyang 58
Hebei 56
Medford 55
Munich 53
Jiaxing 52
Lauterbourg 52
Changsha 51
Los Angeles 45
Helsinki 43
Hangzhou 40
Hanoi 38
Tianjin 38
Ho Chi Minh City 33
Shanghai 33
Council Bluffs 30
Buffalo 29
Turku 29
Moscow 27
Milan 26
Redondo Beach 26
São Paulo 24
Pavia 19
Woodbridge 19
Frankfurt am Main 18
London 18
Tokyo 18
Toronto 18
Santa Clara 16
Brussels 15
Montreal 12
Orem 11
San Francisco 11
Falkenstein 10
Seattle 10
Brooklyn 9
Chicago 9
Denver 9
Houston 9
Stockholm 9
Verona 9
Mumbai 8
Norwalk 8
Phoenix 8
Rio de Janeiro 8
The Dalles 8
Atlanta 7
Belo Horizonte 7
Chennai 7
Des Moines 7
Fairfield 7
Jinan 7
Amsterdam 6
Florence 6
Mexico City 6
Warsaw 6
Auburn Hills 5
Baghdad 5
Biên Hòa 5
Manchester 5
Nuremberg 5
Poplar 5
Vienna 5
Brasília 4
Canberra 4
Dhaka 4
Guangzhou 4
Kunming 4
Kuwait City 4
Nairobi 4
Nanterre 4
Quito 4
Tashkent 4
Baku 3
Ben Arous 3
Contagem 3
Fuzhou 3
Guayaquil 3
Ha Long 3
Haiphong 3
Hanover 3
Kingston 3
Lahore 3
Totale 4.441
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Nome #
Adult-onset type II glycogenosis (GSDII): Clinical spectrum and enzyme replacement therapy (ERT) 147
Effect of ionizing radiation exposure on proliferation and cell cycle distribution in cells derived from shwachman-diamond syndrome affected patients 144
Familial platelet disorder with propensity to acute myelogenous leukemia: Genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies 137
Dietary treatment in adult-onset type II glycogenosis. 137
Concurrent cytogenetic and molecular investigations in uterine and ovarian neoplasms 132
Effect of X-rays on DNA repair pathways in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients. 132
Immunohistochemical analysis of a merkeloma observed in a patient affected byhereditary haemorrhagic telangiectasia. 128
Constitutional trisomy 8 as first mutation in multistep carcinogenesis: clinical, cytogenetic and molecular data on three cases 127
Isochromosome (7) (q10) in Schwachman syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders. 126
Early onset of gastric carcinoma and constitutional deletion of 18p. 123
A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM-1 gangliosidosis patient 123
Familial myelodysplastic syndromed, monosomy 7/trisomy 8, and mutator effects. 123
Isochromosome 7q10 in Shwachman Syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders. 121
Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene 121
Bone marrow failure may be caused by chromosome anomalies exerting effects on RUNX1T1 gene 121
Rischio di ricorrenza di Sindrome di Turner. 119
Adult-onset type II glycogenosis (GSDII): Clinical spectrum and enzyme replacement therapy (ERT) 117
Radiosensitivity and DNA damage repair in Lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients 116
FAMILIAL PARTIAL MONOSOMY 7 AND MYELODYSPLASIA: DIFFERENT PARENTAL ORIGIN OF THE 7 INVOLVED SUGGESTS THE ACTION OF A MUTATOR GENE 115
De novo complex autosomal translocation involving chromosome 8, 13 and 15 in a girl with a sporadic retinoblastoma 114
Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism. 113
Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome. 113
Meiotic origin of trisomy in neoplasms: evidence in a case of erythroleukemia. 112
Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome 110
Isochromosome (7)(q10) in Shwachman Syndrome Without MDS/AML and Role of Chromosome 7 Anomalies in Myeloproliferative Disorders 110
Erythroleukaemia with tetrasomy 21 in a child without Down phenotype: evidence for a meiotic origin. 109
Radiosensitivity in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients 108
Constitutional trisomy 8 mosaicism: mechanism of origin, phenotype variability, and risk of malignancies 105
Meiotic origin of trisomy in neoplasms: evidence in a case of erythroleukaemia 100
Different reaction of inactive centromeres to anticentromeric antibodies 100
Cytogenetic and molecular analysis of an unbalanced translocation (X;7) (q28;p15) in a dysmorphic girl 98
Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases 96
Cytogenetic and molecular data in familial myelodysplastic syndrome associated with monosomy 7. 96
Shwachman-Diamond syndrome: diagnosis, pathogenesis and prognosis 96
Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations 95
Monosomy 7 in myeloid malignancies: parental origin and monitoring by real-time quantitative PCR. 94
Constitutional trisomy 8 mosaicism in primary myelofibrosis: relevance to clinical practice and warning for trisomy 8 studies. 94
Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome. 94
D8S7 is consistently deleted in inverted duplication of the short arm of chromosome 8 ( inv dup 8p) 93
Growth hormone-releasing hormone gene maps at 20q11.2. Is there a second GH neurosecretion gene on 20p11.23-p12.3? 91
Incidence of Shwachman-Diamond Syndrome in Italy. 90
Prenatal diagnosis of inborn errors of metabolism in the first trimester 88
Gene dosage effect in acquired monosomy 7: distinct behaviour of beta-glucuronidase and phosphoserine phosphatase 88
Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. 87
Ph- positive CML in blastic phase with monosomy 7 in a Down syndrome patient. Monitoring by interphase cytogenetics and demonstration of maternal allelic loss. 87
Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients 87
Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver–Russell Syndrome and Focus on the IGF1R Gene 87
Familial partial monosomy 7 suggests action of a mutator gene. 86
Genetic heterogeneity in autosomal dominant otosclerosis: Exclusion of linkage to four known loci in an Italian family 85
Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene 83
Shwachman-Diamond syndrome and type 1 diabetes mellitus: more than a chance association? 83
Prental diagnosis of metabolic disease on chorionic villi obtained before the ninth week of pregnancy 83
First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B 82
Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases. 82
Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome 79
Gene dosage effect in huma meningiomas 79
Gene dosage effect in cells with monosomy of chromosome 22 derived from human meningiomas 78
Gene dosage effect in chorionic villi 71
Inv dup (8) (p21.1->22.1): further case report and a new hypothesis on the origin of the chromosome abnormality 71
The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications 66
Hereditary haemorragic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2 58
Familial partial monosomy 7 and myelodysplasia : different parental origin of the monosomy 7 suggests action of a mutator gene 55
Donor Cell Acute Myeloid Leukemia after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: A Case Report and Literature Review 54
The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations 50
Shwachman‐Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability 46
Involvement of the region 13q14 in a patient with admantinoma of the long bones 43
Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype 41
The pathogenic variant c.258+533_459+403del in SBDS gene is the commonest rare variant in Italy and shows a founder effect 40
Totale 6.579
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Categoria #
all - tutte 25.972
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 25.972
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202115 0 0 0 0 0 0 0 0 0 0 0 15
2021/2022299 3 2 6 5 8 9 4 18 9 11 48 176
2022/20231.025 95 80 13 81 130 98 0 33 449 12 21 13
2023/2024301 41 45 6 25 31 89 11 24 0 8 11 10
2024/2025957 21 74 25 28 33 50 24 60 249 27 104 262
2025/20262.226 188 319 255 214 263 90 350 136 173 140 67 31
Totale 6.579