IRIS
MARASCHIO, PAOLA
 Distribuzione geografica
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Continente #
NA - Nord America 1.356
EU - Europa 1.177
AS - Asia 793
SA - Sud America 44
AF - Africa 7
OC - Oceania 3
Continente sconosciuto - Info sul continente non disponibili 1
Totale 3.381
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Nazione #
US - Stati Uniti d'America 1.348
CN - Cina 643
IE - Irlanda 318
UA - Ucraina 198
RU - Federazione Russa 136
FI - Finlandia 132
DE - Germania 115
SG - Singapore 112
SE - Svezia 88
GB - Regno Unito 73
IT - Italia 42
FR - Francia 37
BR - Brasile 34
BE - Belgio 13
CZ - Repubblica Ceca 13
JP - Giappone 11
CA - Canada 6
EC - Ecuador 4
IN - India 4
IR - Iran 4
TR - Turchia 4
BD - Bangladesh 3
HK - Hong Kong 3
PT - Portogallo 3
AU - Australia 2
DZ - Algeria 2
ES - Italia 2
LA - Repubblica Popolare Democratica del Laos 2
MU - Mauritius 2
NL - Olanda 2
PE - Perù 2
VE - Venezuela 2
AR - Argentina 1
AZ - Azerbaigian 1
CH - Svizzera 1
CO - Colombia 1
EU - Europa 1
IM - Isola di Man 1
KG - Kirghizistan 1
KR - Corea 1
LB - Libano 1
LT - Lituania 1
MA - Marocco 1
MX - Messico 1
NZ - Nuova Zelanda 1
PA - Panama 1
PK - Pakistan 1
PL - Polonia 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
TN - Tunisia 1
VN - Vietnam 1
ZA - Sudafrica 1
Totale 3.381
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Città #
Dublin 318
Chandler 292
Jacksonville 245
Nanjing 194
Boardman 92
Ashburn 83
Nanchang 72
Shenyang 64
Singapore 64
Ann Arbor 61
Hebei 55
Princeton 55
Beijing 54
Lawrence 54
Wilmington 53
Changsha 51
Medford 48
Jiaxing 36
New York 29
Tianjin 27
Hangzhou 24
Helsinki 24
Shanghai 24
Woodbridge 20
Moscow 16
Milan 14
Brussels 13
Verona 13
Brno 11
Tokyo 11
Norwalk 10
Auburn Hills 8
Los Angeles 8
Jinan 7
Ningbo 6
Kunming 5
San Francisco 5
Fairfield 4
Lanzhou 4
Cullman 3
Hong Kong 3
Newark 3
Pune 3
Rio de Janeiro 3
Stockholm 3
Toronto 3
Borås 2
Dearborn 2
Falkenstein 2
Guangzhou 2
Houston 2
London 2
Melbourne 2
Natal 2
Ottawa 2
Pavia 2
Prague 2
Seattle 2
St Louis 2
Vientiane 2
Washington 2
Zhengzhou 2
Adana 1
Amsterdam 1
Anchorage 1
Andover 1
Auckland 1
Baku 1
Bauru 1
Belo Horizonte 1
Berlin 1
Betim 1
Bishkek 1
Blida 1
Boa Viagem 1
Boa Vista 1
Bratislava 1
Brooklyn 1
Capitão Poço 1
Capivari 1
Caruaru 1
Casier 1
Chelyabinsk 1
Chittagong 1
Clifton 1
Cuiabá 1
Dallas 1
Dhaka 1
Douglas 1
Düsseldorf 1
Fuzhou 1
Gravatá do Ibiapina 1
Guaratinguetá 1
Guarulhos 1
Guayaquil 1
Gunzenhausen 1
Haikou 1
Irecê 1
Itapetininga 1
Jandira 1
Totale 2.265
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Nome #
A new chromosome instability disorder 99
XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: genetic analysis in one family. 96
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. 91
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity 89
A novel mutation and novel features in Nijmegen breakage syndrome. 86
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 85
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 83
Comment on: Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome. 81
Ring chromosome 9 with a 9p22.3-p24.3 duplication 79
A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage 78
Chromosome abnormalities in lymphocytes and fibroblasts of subjects with multiple endocrine neoplasia type 1. 75
A novel mechnaism for the origin of supernumerary marker chromosomes 75
XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: genetic analysis in one family. 74
Anticentroameric antibodies and inactive centromeres 74
Smith-Magenis syndrome and growth hormone deficiency 73
Orign and clinical significance of inv dup(15) 72
Alternate centromere inactivation in a pseudodicentric (15;20) associated with a progressive neurological disorder 71
Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation 70
Immunodeficiency, centromeric heterochromatin instability of chromosome 1, 9 and 16 and facial anomalies: the ICF syndrome. 68
Preferential maternal derivation in inv dup (15): analysis of eight new cases 66
Indirect immunofluorescence of inactive centromeres as indicator of centromeric function 66
Interstitial deletion of chromsome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome. 64
Chromosome abnormalities and male sterility 64
Chromosome 10p deletion in a patient with hypoparathyroidism , severe mental reterdation, autism and basal ganglia clacifications 64
Presumptive mosaic origin of an XX/XY female with ambiguous genitalia 64
Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: a phenotype overlapping Stratton-Parker syndrome 63
Indirect immunofluorescence of inactive centromere as indicator of centromeric function 62
Xp deficiencies and female fertility 61
Evidence for human mitotic mutant with pleiotropic effect 61
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. 59
Genetic heterogeneity for a Nijmegen Breakage-like Syndrome 59
Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers. 58
Familial occurrence of Turner syndrome: casual event or increased risk? 58
The gene for human peptidase A is on band 18q23 and shows triplex and uniplex dosage effect 58
Cd bands and centromeric function in dicentric chromosomes 58
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphisms (ICF syndrome). 57
A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosome 2;7 and 5;20 57
Chromosome instability and nibrin protein variants in NBS heterozygotes. 55
Mapping the gene encoding the human erythroid transcriptonal factor NFE1-GF1 to Xp11-23 51
Different reaction of inactive centromeres to anticentromeric antibodies 51
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes. Clues to the mechanisms of formation. 51
The syndrome of partial trisomy 14q 49
Cytogenetics of multiple endocrine neoplasia syndrome. II. Chromosome abnormalities in an insulinoma and a Glaucoma from two subjects with MEN1. 49
The modes of Y chromosome centromere inactivation in pseudodicentric chromosomes 48
Late diagnosis in severe and mild intellectual disability in adulthood. 47
Deviant karyotypes in amniotic fluid cell cultures: a problem in prenatal diagnosis. 47
Women heterozygous for deficiency of the (p21-pter) region of the X chromosome are fertile. 46
X chromosomes attached by their long arm: replication autonomy of the short arm adjacent to the inactive centromere. 45
Cytogenetic of multiple endocrine neoplasia syndromes. I. Two different, unique clonal chromosome changes in a medullary thyroid carcinoma and in a C-cell thyroid hyperplasia. 45
The Cd technique identifies a specidic structure to centromeric function 45
Deletion of specific sequence or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation 43
The role of Yp in sex determination: new evidence from X/Y translocations. 40
Mild Nijmegen breakage syndrome phenotype due to alternative splicing. 36
Regional assignment of the loci for adenylate kinase to 9q32 and for alfa1 acid glycoprotein to 9q31-q32 35
Totale 3.401
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Categoria #
all - tutte 13.585
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 13.585
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202098 0 0 0 0 0 0 0 0 0 63 35 0
2020/2021366 43 34 11 39 1 48 2 61 11 54 50 12
2021/2022259 3 2 3 3 2 8 5 16 18 5 41 153
2022/2023845 79 63 8 58 102 86 0 42 377 8 11 11
2023/2024287 29 52 5 21 26 84 1 21 1 8 6 33
2024/2025436 11 64 22 27 9 36 30 38 195 4 0 0
Totale 3.401