IRIS
MINELLI, ANTONELLA
 Distribuzione geografica
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Continente #
NA - Nord America 3.210
AS - Asia 1.923
EU - Europa 1.730
SA - Sud America 207
AF - Africa 111
Continente sconosciuto - Info sul continente non disponibili 76
OC - Oceania 9
Totale 7.266
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Nazione #
US - Stati Uniti d'America 3.085
CN - Cina 996
SG - Singapore 441
IE - Irlanda 413
UA - Ucraina 199
IT - Italia 191
DE - Germania 188
HK - Hong Kong 188
RU - Federazione Russa 185
FI - Finlandia 182
BR - Brasile 159
VN - Vietnam 124
SE - Svezia 117
GB - Regno Unito 98
FR - Francia 83
ZA - Sudafrica 80
CA - Canada 52
IN - India 32
BD - Bangladesh 22
JP - Giappone 18
AR - Argentina 17
BE - Belgio 17
TR - Turchia 16
IQ - Iraq 13
MX - Messico 13
NL - Olanda 13
EC - Ecuador 12
CO - Colombia 11
PK - Pakistan 11
AT - Austria 10
ES - Italia 10
HN - Honduras 10
ID - Indonesia 9
CR - Costa Rica 8
PL - Polonia 8
AU - Australia 7
GT - Guatemala 7
JM - Giamaica 7
TN - Tunisia 7
MA - Marocco 6
TT - Trinidad e Tobago 6
UZ - Uzbekistan 6
IL - Israele 5
KE - Kenya 5
NI - Nicaragua 5
PR - Porto Rico 5
SA - Arabia Saudita 5
KW - Kuwait 4
PH - Filippine 4
SV - El Salvador 4
VE - Venezuela 4
AO - Angola 3
AZ - Azerbaigian 3
CW - ???statistics.table.value.countryCode.CW??? 3
EE - Estonia 3
EU - Europa 3
GP - Guadalupe 3
NP - Nepal 3
PS - Palestinian Territory 3
TH - Thailandia 3
AE - Emirati Arabi Uniti 2
AM - Armenia 2
BS - Bahamas 2
CI - Costa d'Avorio 2
CZ - Repubblica Ceca 2
DO - Repubblica Dominicana 2
EG - Egitto 2
IR - Iran 2
KR - Corea 2
LB - Libano 2
LT - Lituania 2
MY - Malesia 2
NZ - Nuova Zelanda 2
SC - Seychelles 2
SI - Slovenia 2
SN - Senegal 2
UY - Uruguay 2
AD - Andorra 1
BH - Bahrain 1
CY - Cipro 1
DK - Danimarca 1
DZ - Algeria 1
ET - Etiopia 1
HU - Ungheria 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
SK - Slovacchia (Repubblica Slovacca) 1
TM - Turkmenistan 1
Totale 7.196
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Città #
Dublin 412
Chandler 351
Dallas 345
Jacksonville 259
San Jose 250
Singapore 231
Ashburn 228
Nanjing 204
Beijing 195
Hong Kong 185
Council Bluffs 171
Boardman 107
Nanchang 79
Johannesburg 77
Princeton 63
Ann Arbor 62
New York 61
Lawrence 60
Wilmington 59
Shenyang 58
Hebei 56
Medford 55
Munich 53
Jiaxing 52
Lauterbourg 52
Changsha 51
Los Angeles 47
Helsinki 43
Hangzhou 40
Hanoi 38
Tianjin 38
Santa Clara 37
Milan 36
Shanghai 34
Ho Chi Minh City 33
Buffalo 30
Turku 29
Moscow 27
Redondo Beach 26
São Paulo 25
Frankfurt am Main 19
Pavia 19
Woodbridge 19
London 18
Tokyo 18
Toronto 18
Brussels 15
Houston 13
Montreal 13
Brooklyn 12
Phoenix 12
Atlanta 11
Chicago 11
Orem 11
San Francisco 11
Seattle 11
Falkenstein 10
Verona 10
Denver 9
Rome 9
Stockholm 9
Florence 8
Mumbai 8
Norwalk 8
Rio de Janeiro 8
The Dalles 8
Belo Horizonte 7
Brasília 7
Chennai 7
Columbus 7
Des Moines 7
Fairfield 7
Jinan 7
Amsterdam 6
Mexico City 6
Naples 6
Warsaw 6
Auburn Hills 5
Baghdad 5
Biên Hòa 5
Guatemala City 5
Kingston 5
Managua 5
Manchester 5
Nuremberg 5
Philadelphia 5
Poplar 5
San Pedro Sula 5
Vienna 5
Canberra 4
Charlotte 4
Dhaka 4
East Northport 4
Guangzhou 4
Guayaquil 4
Kunming 4
Kuwait City 4
Nairobi 4
Nanterre 4
Quito 4
Totale 4.754
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Nome #
Effect of ionizing radiation exposure on proliferation and cell cycle distribution in cells derived from shwachman-diamond syndrome affected patients 161
Familial platelet disorder with propensity to acute myelogenous leukemia: Genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies 158
Adult-onset type II glycogenosis (GSDII): Clinical spectrum and enzyme replacement therapy (ERT) 155
Dietary treatment in adult-onset type II glycogenosis. 148
Effect of X-rays on DNA repair pathways in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients. 140
Concurrent cytogenetic and molecular investigations in uterine and ovarian neoplasms 139
Rischio di ricorrenza di Sindrome di Turner. 139
Immunohistochemical analysis of a merkeloma observed in a patient affected byhereditary haemorrhagic telangiectasia. 139
Isochromosome (7) (q10) in Schwachman syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders. 137
Constitutional trisomy 8 as first mutation in multistep carcinogenesis: clinical, cytogenetic and molecular data on three cases 134
Familial myelodysplastic syndromed, monosomy 7/trisomy 8, and mutator effects. 133
Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene 132
Early onset of gastric carcinoma and constitutional deletion of 18p. 131
Isochromosome 7q10 in Shwachman Syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders. 130
A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM-1 gangliosidosis patient 130
FAMILIAL PARTIAL MONOSOMY 7 AND MYELODYSPLASIA: DIFFERENT PARENTAL ORIGIN OF THE 7 INVOLVED SUGGESTS THE ACTION OF A MUTATOR GENE 129
Bone marrow failure may be caused by chromosome anomalies exerting effects on RUNX1T1 gene 129
Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome 127
Adult-onset type II glycogenosis (GSDII): Clinical spectrum and enzyme replacement therapy (ERT) 126
Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism. 124
Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome. 124
De novo complex autosomal translocation involving chromosome 8, 13 and 15 in a girl with a sporadic retinoblastoma 123
Radiosensitivity and DNA damage repair in Lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients 123
Isochromosome (7)(q10) in Shwachman Syndrome Without MDS/AML and Role of Chromosome 7 Anomalies in Myeloproliferative Disorders 123
Meiotic origin of trisomy in neoplasms: evidence in a case of erythroleukemia. 121
Erythroleukaemia with tetrasomy 21 in a child without Down phenotype: evidence for a meiotic origin. 116
Radiosensitivity in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients 116
Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome. 111
Constitutional trisomy 8 mosaicism: mechanism of origin, phenotype variability, and risk of malignancies 110
Cytogenetic and molecular analysis of an unbalanced translocation (X;7) (q28;p15) in a dysmorphic girl 109
Growth hormone-releasing hormone gene maps at 20q11.2. Is there a second GH neurosecretion gene on 20p11.23-p12.3? 109
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 108
Meiotic origin of trisomy in neoplasms: evidence in a case of erythroleukaemia 107
Different reaction of inactive centromeres to anticentromeric antibodies 107
D8S7 is consistently deleted in inverted duplication of the short arm of chromosome 8 ( inv dup 8p) 107
Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases 105
Constitutional trisomy 8 mosaicism in primary myelofibrosis: relevance to clinical practice and warning for trisomy 8 studies. 105
Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver–Russell Syndrome and Focus on the IGF1R Gene 105
Cytogenetic and molecular data in familial myelodysplastic syndrome associated with monosomy 7. 102
Shwachman-Diamond syndrome: diagnosis, pathogenesis and prognosis 102
Monosomy 7 in myeloid malignancies: parental origin and monitoring by real-time quantitative PCR. 100
Gene dosage effect in acquired monosomy 7: distinct behaviour of beta-glucuronidase and phosphoserine phosphatase 98
Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. 97
Ph- positive CML in blastic phase with monosomy 7 in a Down syndrome patient. Monitoring by interphase cytogenetics and demonstration of maternal allelic loss. 96
Incidence of Shwachman-Diamond Syndrome in Italy. 96
Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients 94
Familial partial monosomy 7 suggests action of a mutator gene. 93
Shwachman-Diamond syndrome and type 1 diabetes mellitus: more than a chance association? 93
Prenatal diagnosis of inborn errors of metabolism in the first trimester 93
Genetic heterogeneity in autosomal dominant otosclerosis: Exclusion of linkage to four known loci in an Italian family 93
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 91
Prental diagnosis of metabolic disease on chorionic villi obtained before the ninth week of pregnancy 90
Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases. 90
Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome 87
First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B 87
Gene dosage effect in huma meningiomas 87
Gene dosage effect in cells with monosomy of chromosome 22 derived from human meningiomas 86
Gene dosage effect in chorionic villi 80
Inv dup (8) (p21.1->22.1): further case report and a new hypothesis on the origin of the chromosome abnormality 76
Donor Cell Acute Myeloid Leukemia after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: A Case Report and Literature Review 75
The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications 75
Hereditary haemorragic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2 64
Familial partial monosomy 7 and myelodysplasia : different parental origin of the monosomy 7 suggests action of a mutator gene 61
The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations 59
Shwachman‐Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability 55
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 49
Involvement of the region 13q14 in a patient with admantinoma of the long bones 49
The pathogenic variant c.258+533_459+403del in SBDS gene is the commonest rare variant in Italy and shows a founder effect 45
Shwachman-Diamond Syndrome and Diabetes: An Update from the Italian Registry and Review of the Literature 20
Homozygous Pathogenic Variant in Elongation Factor‐Like 1 ( EFL1 ) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations 13
Totale 7.266
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Categoria #
all - tutte 29.815
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 29.815
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022283 0 0 0 0 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
2025/20262.235 188 319 255 214 263 90 350 136 173 140 67 40
2026/2027678 47 108 126 261 136 0 0 0 0 0 0 0
Totale 7.266