IRIS
MINELLI, ANTONELLA
 Distribuzione geografica
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Continente #
NA - Nord America 1.412
EU - Europa 1.157
AS - Asia 730
OC - Oceania 8
SA - Sud America 4
Continente sconosciuto - Info sul continente non disponibili 3
AF - Africa 1
Totale 3.315
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Nazione #
US - Stati Uniti d'America 1.398
CN - Cina 711
IE - Irlanda 407
UA - Ucraina 196
FI - Finlandia 146
IT - Italia 112
SE - Svezia 108
DE - Germania 99
GB - Regno Unito 57
CA - Canada 14
FR - Francia 14
BE - Belgio 13
IN - India 7
AU - Australia 6
EU - Europa 3
PS - Palestinian Territory 3
TR - Turchia 3
BR - Brasile 2
IR - Iran 2
NZ - Nuova Zelanda 2
AT - Austria 1
BD - Bangladesh 1
CO - Colombia 1
EC - Ecuador 1
ES - Italia 1
HK - Hong Kong 1
ID - Indonesia 1
NL - Olanda 1
RU - Federazione Russa 1
SA - Arabia Saudita 1
SI - Slovenia 1
TN - Tunisia 1
Totale 3.315
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Città #
Dublin 407
Chandler 350
Jacksonville 258
Nanjing 203
Beijing 80
Nanchang 79
Ashburn 72
Ann Arbor 62
Princeton 62
Lawrence 59
Wilmington 59
Shenyang 58
Hebei 56
Medford 55
Jiaxing 52
Changsha 48
Hangzhou 40
Boardman 38
New York 38
Helsinki 36
Tianjin 36
Shanghai 23
Milan 21
Pavia 19
Woodbridge 19
Brussels 12
Toronto 12
Seattle 9
Verona 9
Norwalk 8
San Francisco 8
Fairfield 7
Jinan 7
Des Moines 6
Auburn Hills 5
Houston 5
Canberra 4
London 4
Los Angeles 4
Fuzhou 3
Hanover 3
Kunming 3
Andover 2
Auckland 2
Cambridge 2
Falls Church 2
Florence 2
Gaza 2
Guangzhou 2
Kish 2
Lanzhou 2
Napoli 2
Ningbo 2
Pisa 2
Pune 2
Redwood City 2
Rivignano 2
Taizhou 2
Torino 2
Trieste 2
Ben Arous 1
Berlin 1
Bologna 1
Borås 1
Brasília 1
Buffalo 1
Chicago 1
Chipping Norton 1
Clearwater 1
Cleveland 1
Delhi 1
Dhaka 1
Falkenstein 1
Haikou 1
Henderson 1
Lana 1
Lissone 1
Lokev 1
Macerata 1
Markham 1
Melbourne 1
Nova Milanese 1
Oklahoma City 1
Orange 1
Padova 1
Palermo 1
Pasto 1
Pescara 1
Pordenone 1
Quito 1
Reston 1
Riyadh 1
Sacramento 1
San Mateo 1
Scarmagno 1
Sydney 1
São Paulo 1
Tappahannock 1
Venezia 1
Vienna 1
Totale 2.415
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Nome #
Rischio di ricorrenza di Sindrome di Turner. 92
Isochromosome 7q10 in Shwachman Syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders. 86
Meiotic origin of trisomy in neoplasms: evidence in a case of erythroleukemia. 79
Erythroleukaemia with tetrasomy 21 in a child without Down phenotype: evidence for a meiotic origin. 77
Early onset of gastric carcinoma and constitutional deletion of 18p. 77
Isochromosome (7) (q10) in Schwachman syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders. 74
Familial platelet disorder with propensity to acute myelogenous leukemia: Genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies 72
FAMILIAL PARTIAL MONOSOMY 7 AND MYELODYSPLASIA: DIFFERENT PARENTAL ORIGIN OF THE 7 INVOLVED SUGGESTS THE ACTION OF A MUTATOR GENE 72
Constitutional trisomy 8 as first mutation in multistep carcinogenesis: clinical, cytogenetic and molecular data on three cases 72
Adult-onset type II glycogenosis (GSDII): Clinical spectrum and enzyme replacement therapy (ERT) 71
De novo complex autosomal translocation involving chromosome 8, 13 and 15 in a girl with a sporadic retinoblastoma 68
Immunohistochemical analysis of a merkeloma observed in a patient affected byhereditary haemorrhagic telangiectasia. 68
Dietary treatment in adult-onset type II glycogenosis. 67
Concurrent cytogenetic and molecular investigations in uterine and ovarian neoplasms 66
Meiotic origin of trisomy in neoplasms: evidence in a case of erythroleukaemia 65
A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM-1 gangliosidosis patient 64
Familial myelodysplastic syndromed, monosomy 7/trisomy 8, and mutator effects. 64
Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases 63
Isochromosome (7)(q10) in Shwachman Syndrome Without MDS/AML and Role of Chromosome 7 Anomalies in Myeloproliferative Disorders 63
Effect of X-rays on DNA repair pathways in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients. 63
Familial partial monosomy 7 suggests action of a mutator gene. 61
Constitutional trisomy 8 mosaicism: mechanism of origin, phenotype variability, and risk of malignancies 61
Prenatal diagnosis of inborn errors of metabolism in the first trimester 60
Radiosensitivity and DNA damage repair in Lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients 60
Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene 60
Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism. 59
Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. 59
Incidence of Shwachman-Diamond Syndrome in Italy. 58
Cytogenetic and molecular analysis of an unbalanced translocation (X;7) (q28;p15) in a dysmorphic girl 56
Effect of ionizing radiation exposure on proliferation and cell cycle distribution in cells derived from shwachman-diamond syndrome affected patients 56
Growth hormone-releasing hormone gene maps at 20q11.2. Is there a second GH neurosecretion gene on 20p11.23-p12.3? 55
Gene dosage effect in huma meningiomas 53
Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome. 53
Shwachman-Diamond syndrome and type 1 diabetes mellitus: more than a chance association? 52
D8S7 is consistently deleted in inverted duplication of the short arm of chromosome 8 ( inv dup 8p) 52
Prental diagnosis of metabolic disease on chorionic villi obtained before the ninth week of pregnancy 51
Ph- positive CML in blastic phase with monosomy 7 in a Down syndrome patient. Monitoring by interphase cytogenetics and demonstration of maternal allelic loss. 49
Monosomy 7 in myeloid malignancies: parental origin and monitoring by real-time quantitative PCR. 48
Gene dosage effect in chorionic villi 47
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 47
Gene dosage effect in cells with monosomy of chromosome 22 derived from human meningiomas 46
Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome 46
Cytogenetic and molecular data in familial myelodysplastic syndrome associated with monosomy 7. 46
Radiosensitivity in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients 45
Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome. 45
Gene dosage effect in acquired monosomy 7: distinct behaviour of beta-glucuronidase and phosphoserine phosphatase 45
Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients 45
Inv dup (8) (p21.1->22.1): further case report and a new hypothesis on the origin of the chromosome abnormality 44
Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases. 44
Constitutional trisomy 8 mosaicism in primary myelofibrosis: relevance to clinical practice and warning for trisomy 8 studies. 44
Bone marrow failure may be caused by chromosome anomalies exerting effects on RUNX1T1 gene 44
Different reaction of inactive centromeres to anticentromeric antibodies 43
Genetic heterogeneity in autosomal dominant otosclerosis: Exclusion of linkage to four known loci in an Italian family 40
Hereditary haemorragic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2 39
First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B 37
The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications 32
Familial partial monosomy 7 and myelodysplasia : different parental origin of the monosomy 7 suggests action of a mutator gene 30
Adult-onset type II glycogenosis (GSDII): Clinical spectrum and enzyme replacement therapy (ERT) 29
Shwachman-Diamond syndrome: diagnosis, pathogenesis and prognosis 27
Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome 25
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 22
Involvement of the region 13q14 in a patient with admantinoma of the long bones 21
The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations 11
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 9
Totale 3.379
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Categoria #
all - tutte 10.697
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 10.697
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/20197 0 0 0 0 0 0 0 0 0 0 3 4
2019/2020873 258 350 1 37 7 40 8 42 4 78 46 2
2020/2021403 45 32 16 38 2 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
2023/2024284 41 45 6 25 31 89 11 24 0 8 4 0
Totale 3.379