IRIS
MINELLI, ANTONELLA
 Distribuzione geografica
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Continente #
NA - Nord America 2.231
AS - Asia 1.619
EU - Europa 1.556
SA - Sud America 154
AF - Africa 23
OC - Oceania 8
Continente sconosciuto - Info sul continente non disponibili 3
Totale 5.594
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Nazione #
US - Stati Uniti d'America 2.188
CN - Cina 952
IE - Irlanda 411
SG - Singapore 348
UA - Ucraina 198
FI - Finlandia 182
RU - Federazione Russa 181
DE - Germania 176
HK - Hong Kong 168
BR - Brasile 133
IT - Italia 131
SE - Svezia 116
GB - Regno Unito 81
VN - Vietnam 50
CA - Canada 30
FR - Francia 27
IN - India 19
BE - Belgio 15
JP - Giappone 13
AR - Argentina 10
AT - Austria 10
IQ - Iraq 10
BD - Bangladesh 9
MX - Messico 9
ES - Italia 8
TR - Turchia 8
AU - Australia 6
NL - Olanda 6
PK - Pakistan 6
PL - Polonia 6
ZA - Sudafrica 6
EC - Ecuador 5
ID - Indonesia 5
KE - Kenya 5
UZ - Uzbekistan 5
CO - Colombia 4
TN - Tunisia 4
EU - Europa 3
MA - Marocco 3
NP - Nepal 3
PS - Palestinian Territory 3
AE - Emirati Arabi Uniti 2
AM - Armenia 2
AZ - Azerbaigian 2
CI - Costa d'Avorio 2
CZ - Repubblica Ceca 2
EG - Egitto 2
IR - Iran 2
JM - Giamaica 2
KR - Corea 2
NZ - Nuova Zelanda 2
SA - Arabia Saudita 2
TH - Thailandia 2
AD - Andorra 1
CR - Costa Rica 1
CY - Cipro 1
DO - Repubblica Dominicana 1
ET - Etiopia 1
HU - Ungheria 1
IL - Israele 1
JO - Giordania 1
KW - Kuwait 1
LB - Libano 1
LT - Lituania 1
MD - Moldavia 1
PY - Paraguay 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
TM - Turkmenistan 1
VE - Venezuela 1
Totale 5.594
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Città #
Dublin 410
Chandler 350
Dallas 342
Jacksonville 258
Nanjing 204
Beijing 192
Hong Kong 167
Singapore 166
Ashburn 142
Boardman 104
Nanchang 79
Ann Arbor 62
Princeton 62
Lawrence 59
Wilmington 59
Shenyang 58
Hebei 56
Medford 55
New York 54
Munich 53
Jiaxing 52
Changsha 51
Los Angeles 44
Helsinki 43
Hangzhou 40
Tianjin 38
Shanghai 32
Turku 29
Moscow 27
Buffalo 26
Milan 26
Redondo Beach 26
Pavia 19
São Paulo 19
Woodbridge 19
Toronto 18
Brussels 14
Hanoi 13
Tokyo 13
Ho Chi Minh City 11
London 11
Falkenstein 10
San Francisco 10
Seattle 10
Brooklyn 9
Chicago 9
Frankfurt am Main 9
Houston 9
Verona 9
Montreal 8
Norwalk 8
Santa Clara 8
Stockholm 8
The Dalles 8
Denver 7
Fairfield 7
Jinan 7
Rio de Janeiro 7
Atlanta 6
Belo Horizonte 6
Des Moines 6
Florence 6
Orem 6
Phoenix 6
Warsaw 6
Auburn Hills 5
Biên Hòa 5
Chennai 5
Johannesburg 5
Nuremberg 5
Poplar 5
Vienna 5
Brasília 4
Canberra 4
Kunming 4
Mexico City 4
Nairobi 4
Nanterre 4
Amsterdam 3
Baghdad 3
Contagem 3
Fuzhou 3
Guangzhou 3
Ha Long 3
Hanover 3
Mumbai 3
Porto Alegre 3
Qingdao 3
Raleigh 3
Salvador 3
Tashkent 3
Tunis 3
Zhengzhou 3
Abidjan 2
Andover 2
Ankara 2
Annapolis 2
Auckland 2
Baku 2
Barra Mansa 2
Totale 3.806
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Nome #
Adult-onset type II glycogenosis (GSDII): Clinical spectrum and enzyme replacement therapy (ERT) 129
Effect of ionizing radiation exposure on proliferation and cell cycle distribution in cells derived from shwachman-diamond syndrome affected patients 127
Dietary treatment in adult-onset type II glycogenosis. 119
Effect of X-rays on DNA repair pathways in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients. 119
Familial platelet disorder with propensity to acute myelogenous leukemia: Genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies 118
Early onset of gastric carcinoma and constitutional deletion of 18p. 113
Concurrent cytogenetic and molecular investigations in uterine and ovarian neoplasms 112
Constitutional trisomy 8 as first mutation in multistep carcinogenesis: clinical, cytogenetic and molecular data on three cases 110
Immunohistochemical analysis of a merkeloma observed in a patient affected byhereditary haemorrhagic telangiectasia. 109
Isochromosome (7) (q10) in Schwachman syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders. 108
Isochromosome 7q10 in Shwachman Syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders. 108
Rischio di ricorrenza di Sindrome di Turner. 108
A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM-1 gangliosidosis patient 107
Familial myelodysplastic syndromed, monosomy 7/trisomy 8, and mutator effects. 107
Meiotic origin of trisomy in neoplasms: evidence in a case of erythroleukemia. 104
FAMILIAL PARTIAL MONOSOMY 7 AND MYELODYSPLASIA: DIFFERENT PARENTAL ORIGIN OF THE 7 INVOLVED SUGGESTS THE ACTION OF A MUTATOR GENE 102
De novo complex autosomal translocation involving chromosome 8, 13 and 15 in a girl with a sporadic retinoblastoma 100
Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism. 100
Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome. 100
Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene 100
Adult-onset type II glycogenosis (GSDII): Clinical spectrum and enzyme replacement therapy (ERT) 99
Radiosensitivity and DNA damage repair in Lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients 99
Bone marrow failure may be caused by chromosome anomalies exerting effects on RUNX1T1 gene 99
Isochromosome (7)(q10) in Shwachman Syndrome Without MDS/AML and Role of Chromosome 7 Anomalies in Myeloproliferative Disorders 98
Erythroleukaemia with tetrasomy 21 in a child without Down phenotype: evidence for a meiotic origin. 96
Constitutional trisomy 8 mosaicism: mechanism of origin, phenotype variability, and risk of malignancies 94
Radiosensitivity in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients 91
Cytogenetic and molecular analysis of an unbalanced translocation (X;7) (q28;p15) in a dysmorphic girl 90
Meiotic origin of trisomy in neoplasms: evidence in a case of erythroleukaemia 88
Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome 86
Constitutional trisomy 8 mosaicism in primary myelofibrosis: relevance to clinical practice and warning for trisomy 8 studies. 85
Cytogenetic and molecular data in familial myelodysplastic syndrome associated with monosomy 7. 84
D8S7 is consistently deleted in inverted duplication of the short arm of chromosome 8 ( inv dup 8p) 84
Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases 82
Prenatal diagnosis of inborn errors of metabolism in the first trimester 82
Different reaction of inactive centromeres to anticentromeric antibodies 82
Monosomy 7 in myeloid malignancies: parental origin and monitoring by real-time quantitative PCR. 82
Incidence of Shwachman-Diamond Syndrome in Italy. 82
Growth hormone-releasing hormone gene maps at 20q11.2. Is there a second GH neurosecretion gene on 20p11.23-p12.3? 80
Gene dosage effect in acquired monosomy 7: distinct behaviour of beta-glucuronidase and phosphoserine phosphatase 80
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 80
Shwachman-Diamond syndrome: diagnosis, pathogenesis and prognosis 80
Genetic heterogeneity in autosomal dominant otosclerosis: Exclusion of linkage to four known loci in an Italian family 79
Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. 77
Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients 77
Familial partial monosomy 7 suggests action of a mutator gene. 75
Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome. 75
Ph- positive CML in blastic phase with monosomy 7 in a Down syndrome patient. Monitoring by interphase cytogenetics and demonstration of maternal allelic loss. 74
Gene dosage effect in huma meningiomas 72
Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases. 71
Shwachman-Diamond syndrome and type 1 diabetes mellitus: more than a chance association? 69
Prental diagnosis of metabolic disease on chorionic villi obtained before the ninth week of pregnancy 69
First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B 68
Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome 66
Gene dosage effect in chorionic villi 66
Gene dosage effect in cells with monosomy of chromosome 22 derived from human meningiomas 65
Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver–Russell Syndrome and Focus on the IGF1R Gene 64
Inv dup (8) (p21.1->22.1): further case report and a new hypothesis on the origin of the chromosome abnormality 63
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 58
The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications 51
Hereditary haemorragic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2 49
Familial partial monosomy 7 and myelodysplasia : different parental origin of the monosomy 7 suggests action of a mutator gene 46
The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations 42
Donor Cell Acute Myeloid Leukemia after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: A Case Report and Literature Review 36
Involvement of the region 13q14 in a patient with admantinoma of the long bones 36
Shwachman‐Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability 33
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 31
The pathogenic variant c.258+533_459+403del in SBDS gene is the commonest rare variant in Italy and shows a founder effect 27
Totale 5.662
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Categoria #
all - tutte 22.885
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 22.885
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021270 0 0 0 0 0 55 5 58 18 65 54 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
2025/20261.309 188 319 255 214 263 70 0 0 0 0 0 0
Totale 5.662