IRIS
MARASCHIO, PAOLA
 Distribuzione geografica
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Continente #
NA - Nord America 1.837
AS - Asia 1.327
EU - Europa 1.286
SA - Sud America 118
AF - Africa 20
OC - Oceania 3
Continente sconosciuto - Info sul continente non disponibili 1
Totale 4.592
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Nazione #
US - Stati Uniti d'America 1.798
CN - Cina 811
IE - Irlanda 318
SG - Singapore 294
UA - Ucraina 200
DE - Germania 156
FI - Finlandia 144
RU - Federazione Russa 139
HK - Hong Kong 117
SE - Svezia 94
BR - Brasile 91
GB - Regno Unito 90
IT - Italia 52
FR - Francia 40
VN - Vietnam 30
CA - Canada 21
JP - Giappone 16
IN - India 14
BE - Belgio 13
CZ - Repubblica Ceca 13
MX - Messico 12
PL - Polonia 10
AR - Argentina 8
BD - Bangladesh 7
ZA - Sudafrica 7
EC - Ecuador 6
TR - Turchia 6
ES - Italia 5
IQ - Iraq 5
IR - Iran 4
SA - Arabia Saudita 4
ID - Indonesia 3
MA - Marocco 3
NL - Olanda 3
PE - Perù 3
PT - Portogallo 3
VE - Venezuela 3
AU - Australia 2
CO - Colombia 2
DZ - Algeria 2
IL - Israele 2
KE - Kenya 2
LA - Repubblica Popolare Democratica del Laos 2
LT - Lituania 2
MU - Mauritius 2
PY - Paraguay 2
UY - Uruguay 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AO - Angola 1
AZ - Azerbaigian 1
BB - Barbados 1
BW - Botswana 1
CH - Svizzera 1
CL - Cile 1
EU - Europa 1
GD - Grenada 1
GT - Guatemala 1
HN - Honduras 1
IM - Isola di Man 1
JM - Giamaica 1
JO - Giordania 1
KG - Kirghizistan 1
KR - Corea 1
KZ - Kazakistan 1
LB - Libano 1
MN - Mongolia 1
MR - Mauritania 1
NZ - Nuova Zelanda 1
OM - Oman 1
PA - Panama 1
PK - Pakistan 1
SK - Slovacchia (Repubblica Slovacca) 1
TJ - Tagikistan 1
TN - Tunisia 1
UZ - Uzbekistan 1
Totale 4.592
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Città #
Dublin 318
Chandler 292
Jacksonville 245
Nanjing 194
Dallas 166
Ashburn 141
Singapore 132
Hong Kong 117
Beijing 116
Boardman 92
Nanchang 73
Shenyang 66
Ann Arbor 61
Changsha 58
Hebei 55
Princeton 55
Lawrence 54
Wilmington 54
Los Angeles 48
Medford 48
Munich 39
New York 37
Jiaxing 36
Shanghai 28
Tianjin 28
Hangzhou 26
Helsinki 25
Woodbridge 20
Redondo Beach 18
Buffalo 17
Milan 17
Moscow 16
Tokyo 16
Brussels 13
Verona 13
Brno 11
Hanoi 11
San Francisco 11
Turku 11
Brooklyn 10
Denver 10
Norwalk 10
Ho Chi Minh City 9
Stockholm 9
Warsaw 9
Auburn Hills 8
Jinan 8
Montreal 7
Toronto 7
Charlotte 6
Guangzhou 6
Mexico City 6
Ningbo 6
Atlanta 5
Kunming 5
London 5
Boston 4
Chennai 4
Fairfield 4
Houston 4
Lanzhou 4
Poplar 4
Rio de Janeiro 4
Secaucus 4
Chicago 3
Cullman 3
Johannesburg 3
Manchester 3
Newark 3
Pune 3
Seattle 3
Sirone 3
São Paulo 3
Baghdad 2
Belo Horizonte 2
Borås 2
Calgary 2
Dearborn 2
Falkenstein 2
Frankfurt am Main 2
Joinville 2
Melbourne 2
Miami 2
Montevideo 2
Natal 2
Orem 2
Ottawa 2
Pavia 2
Prague 2
Querétaro 2
Serra Talhada 2
Shenzhen 2
Shijiazhuang 2
St Louis 2
The Dalles 2
Vancouver 2
Vientiane 2
Washington 2
Zhengzhou 2
Adana 1
Totale 3.016
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Nome #
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity 146
XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: genetic analysis in one family. 136
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 135
A new chromosome instability disorder 133
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 124
A novel mutation and novel features in Nijmegen breakage syndrome. 121
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. 114
Comment on: Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome. 107
A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage 106
Anticentroameric antibodies and inactive centromeres 103
Chromosome abnormalities in lymphocytes and fibroblasts of subjects with multiple endocrine neoplasia type 1. 101
XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: genetic analysis in one family. 98
Immunodeficiency, centromeric heterochromatin instability of chromosome 1, 9 and 16 and facial anomalies: the ICF syndrome. 98
A novel mechnaism for the origin of supernumerary marker chromosomes 98
Orign and clinical significance of inv dup(15) 97
Alternate centromere inactivation in a pseudodicentric (15;20) associated with a progressive neurological disorder 94
Presumptive mosaic origin of an XX/XY female with ambiguous genitalia 93
Ring chromosome 9 with a 9p22.3-p24.3 duplication 91
Indirect immunofluorescence of inactive centromeres as indicator of centromeric function 91
Indirect immunofluorescence of inactive centromere as indicator of centromeric function 90
Chromosome abnormalities and male sterility 89
Smith-Magenis syndrome and growth hormone deficiency 88
A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosome 2;7 and 5;20 87
Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation 86
Chromosome 10p deletion in a patient with hypoparathyroidism , severe mental reterdation, autism and basal ganglia clacifications 85
Preferential maternal derivation in inv dup (15): analysis of eight new cases 83
Different reaction of inactive centromeres to anticentromeric antibodies 82
Xp deficiencies and female fertility 80
Cd bands and centromeric function in dicentric chromosomes 80
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. 79
Genetic heterogeneity for a Nijmegen Breakage-like Syndrome 79
Chromosome instability and nibrin protein variants in NBS heterozygotes. 78
Familial occurrence of Turner syndrome: casual event or increased risk? 77
Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: a phenotype overlapping Stratton-Parker syndrome 75
The syndrome of partial trisomy 14q 74
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphisms (ICF syndrome). 73
Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers. 72
Evidence for human mitotic mutant with pleiotropic effect 71
The gene for human peptidase A is on band 18q23 and shows triplex and uniplex dosage effect 71
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. 69
Cytogenetics of multiple endocrine neoplasia syndrome. II. Chromosome abnormalities in an insulinoma and a Glaucoma from two subjects with MEN1. 69
Mapping the gene encoding the human erythroid transcriptonal factor NFE1-GF1 to Xp11-23 68
The modes of Y chromosome centromere inactivation in pseudodicentric chromosomes 68
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. 68
Deviant karyotypes in amniotic fluid cell cultures: a problem in prenatal diagnosis. 67
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes. Clues to the mechanisms of formation. 67
X chromosomes attached by their long arm: replication autonomy of the short arm adjacent to the inactive centromere. 62
Women heterozygous for deficiency of the (p21-pter) region of the X chromosome are fertile. 61
Deletion of specific sequence or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation 60
Late diagnosis in severe and mild intellectual disability in adulthood. 59
The Cd technique identifies a specidic structure to centromeric function 58
Regional assignment of the loci for adenylate kinase to 9q32 and for alfa1 acid glycoprotein to 9q31-q32 51
The role of Yp in sex determination: new evidence from X/Y translocations. 50
Mild Nijmegen breakage syndrome phenotype due to alternative splicing. 50
Totale 4.612
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Categoria #
all - tutte 18.200
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 18.200
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021238 0 0 0 0 0 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
2024/2025712 11 64 22 27 9 36 30 38 195 11 86 183
2025/2026935 114 176 171 194 202 78 0 0 0 0 0 0
Totale 4.612