IRIS
MARASCHIO, PAOLA
 Distribuzione geografica
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Continente #
NA - Nord America 2.089
AS - Asia 1.562
EU - Europa 1.353
SA - Sud America 151
AF - Africa 62
OC - Oceania 3
Continente sconosciuto - Info sul continente non disponibili 1
Totale 5.221
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Nazione #
US - Stati Uniti d'America 2.043
CN - Cina 824
SG - Singapore 344
IE - Irlanda 321
UA - Ucraina 201
DE - Germania 157
FI - Finlandia 144
RU - Federazione Russa 140
HK - Hong Kong 132
VN - Vietnam 132
BR - Brasile 105
GB - Regno Unito 94
SE - Svezia 94
FR - Francia 87
IT - Italia 55
ZA - Sudafrica 37
IN - India 30
CA - Canada 24
JP - Giappone 21
AR - Argentina 15
BD - Bangladesh 14
MX - Messico 14
BE - Belgio 13
CZ - Repubblica Ceca 13
PL - Polonia 10
IQ - Iraq 9
TR - Turchia 9
SA - Arabia Saudita 8
EC - Ecuador 7
CO - Colombia 6
ES - Italia 6
NL - Olanda 6
ID - Indonesia 5
MA - Marocco 5
PK - Pakistan 5
VE - Venezuela 5
ET - Etiopia 4
IR - Iran 4
PE - Perù 4
PH - Filippine 4
PT - Portogallo 4
CL - Cile 3
DZ - Algeria 3
EG - Egitto 3
MY - Malesia 3
UY - Uruguay 3
AE - Emirati Arabi Uniti 2
AU - Australia 2
HN - Honduras 2
IL - Israele 2
KE - Kenya 2
KG - Kirghizistan 2
LA - Repubblica Popolare Democratica del Laos 2
LT - Lituania 2
MU - Mauritius 2
PY - Paraguay 2
TN - Tunisia 2
UZ - Uzbekistan 2
AL - Albania 1
AO - Angola 1
AZ - Azerbaigian 1
BB - Barbados 1
BO - Bolivia 1
BW - Botswana 1
CH - Svizzera 1
DO - Repubblica Dominicana 1
EU - Europa 1
GD - Grenada 1
GT - Guatemala 1
IM - Isola di Man 1
JM - Giamaica 1
JO - Giordania 1
KR - Corea 1
KZ - Kazakistan 1
LB - Libano 1
MN - Mongolia 1
MR - Mauritania 1
MT - Malta 1
NZ - Nuova Zelanda 1
OM - Oman 1
PA - Panama 1
RO - Romania 1
SK - Slovacchia (Repubblica Slovacca) 1
SN - Senegal 1
TJ - Tagikistan 1
Totale 5.221
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Città #
Dublin 321
Chandler 292
Jacksonville 246
Nanjing 194
Dallas 167
Singapore 165
Ashburn 163
San Jose 156
Hong Kong 128
Beijing 117
Boardman 92
Nanchang 73
Shenyang 66
Ann Arbor 61
Changsha 58
Hebei 55
Princeton 55
Lawrence 54
Los Angeles 54
Wilmington 54
Medford 48
Lauterbourg 44
Hanoi 42
Ho Chi Minh City 40
Munich 39
New York 37
Jiaxing 36
Johannesburg 29
Shanghai 28
Tianjin 28
Hangzhou 26
Helsinki 25
Tokyo 20
Woodbridge 20
Redondo Beach 18
Buffalo 17
Milan 17
Moscow 17
Brussels 13
Verona 13
Brno 11
San Francisco 11
Turku 11
Brooklyn 10
Denver 10
Norwalk 10
Montreal 9
Stockholm 9
Warsaw 9
Auburn Hills 8
Jinan 8
Chennai 7
Toronto 7
Atlanta 6
Charlotte 6
Da Nang 6
Guangzhou 6
London 6
Mexico City 6
Ningbo 6
Orem 6
Bắc Ninh 5
Kunming 5
São Paulo 5
Amsterdam 4
Boston 4
Fairfield 4
Houston 4
Lanzhou 4
Manchester 4
Poplar 4
Rio de Janeiro 4
Secaucus 4
Addis Ababa 3
Baghdad 3
Cairo 3
Chicago 3
Cullman 3
Durban 3
Erbil 3
Go Vap 3
Haiphong 3
Joinville 3
Medellín 3
Newark 3
Pune 3
Riyadh 3
Santa Clara 3
Seattle 3
Sirone 3
Thái Nguyên 3
Belo Horizonte 2
Bishkek 2
Biên Hòa 2
Bologna 2
Borås 2
Calgary 2
Dearborn 2
Dhaka 2
Dubai 2
Totale 3.419
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Nome #
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 163
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity 159
XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: genetic analysis in one family. 150
A new chromosome instability disorder 150
A novel mutation and novel features in Nijmegen breakage syndrome. 143
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 142
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. 127
Comment on: Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome. 120
Chromosome abnormalities in lymphocytes and fibroblasts of subjects with multiple endocrine neoplasia type 1. 118
Anticentroameric antibodies and inactive centromeres 117
A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage 117
A novel mechnaism for the origin of supernumerary marker chromosomes 115
Immunodeficiency, centromeric heterochromatin instability of chromosome 1, 9 and 16 and facial anomalies: the ICF syndrome. 110
Chromosome abnormalities and male sterility 110
XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: genetic analysis in one family. 109
Presumptive mosaic origin of an XX/XY female with ambiguous genitalia 107
Orign and clinical significance of inv dup(15) 106
A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosome 2;7 and 5;20 105
Indirect immunofluorescence of inactive centromeres as indicator of centromeric function 104
Indirect immunofluorescence of inactive centromere as indicator of centromeric function 102
Alternate centromere inactivation in a pseudodicentric (15;20) associated with a progressive neurological disorder 102
Smith-Magenis syndrome and growth hormone deficiency 99
Ring chromosome 9 with a 9p22.3-p24.3 duplication 97
Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation 97
Different reaction of inactive centromeres to anticentromeric antibodies 97
Chromosome 10p deletion in a patient with hypoparathyroidism , severe mental reterdation, autism and basal ganglia clacifications 95
Chromosome instability and nibrin protein variants in NBS heterozygotes. 91
Cytogenetics of multiple endocrine neoplasia syndrome. II. Chromosome abnormalities in an insulinoma and a Glaucoma from two subjects with MEN1. 91
Cd bands and centromeric function in dicentric chromosomes 90
Preferential maternal derivation in inv dup (15): analysis of eight new cases 89
Genetic heterogeneity for a Nijmegen Breakage-like Syndrome 89
Familial occurrence of Turner syndrome: casual event or increased risk? 89
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. 86
The syndrome of partial trisomy 14q 86
Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: a phenotype overlapping Stratton-Parker syndrome 84
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphisms (ICF syndrome). 84
Xp deficiencies and female fertility 83
Evidence for human mitotic mutant with pleiotropic effect 82
The gene for human peptidase A is on band 18q23 and shows triplex and uniplex dosage effect 82
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. 80
Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers. 77
Mapping the gene encoding the human erythroid transcriptonal factor NFE1-GF1 to Xp11-23 76
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. 75
The modes of Y chromosome centromere inactivation in pseudodicentric chromosomes 75
Deviant karyotypes in amniotic fluid cell cultures: a problem in prenatal diagnosis. 74
X chromosomes attached by their long arm: replication autonomy of the short arm adjacent to the inactive centromere. 72
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes. Clues to the mechanisms of formation. 72
Deletion of specific sequence or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation 71
Late diagnosis in severe and mild intellectual disability in adulthood. 70
Women heterozygous for deficiency of the (p21-pter) region of the X chromosome are fertile. 70
The Cd technique identifies a specidic structure to centromeric function 68
Regional assignment of the loci for adenylate kinase to 9q32 and for alfa1 acid glycoprotein to 9q31-q32 60
The role of Yp in sex determination: new evidence from X/Y translocations. 57
Mild Nijmegen breakage syndrome phenotype due to alternative splicing. 57
Totale 5.241
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Categoria #
all - tutte 19.239
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 19.239
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021116 0 0 0 0 0 0 0 0 0 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
2025/20261.564 114 176 171 194 202 84 357 53 139 74 0 0
Totale 5.241