IRIS
MARASCHIO, PAOLA
 Distribuzione geografica
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Continente #
NA - Nord America 2.291
AS - Asia 1.566
EU - Europa 1.366
SA - Sud America 155
AF - Africa 62
Continente sconosciuto - Info sul continente non disponibili 21
OC - Oceania 6
Totale 5.467
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Nazione #
US - Stati Uniti d'America 2.237
CN - Cina 824
SG - Singapore 348
IE - Irlanda 321
UA - Ucraina 202
DE - Germania 157
FI - Finlandia 144
RU - Federazione Russa 140
HK - Hong Kong 132
VN - Vietnam 132
BR - Brasile 108
GB - Regno Unito 94
SE - Svezia 94
FR - Francia 87
IT - Italia 64
ZA - Sudafrica 37
IN - India 30
CA - Canada 26
JP - Giappone 21
AR - Argentina 16
MX - Messico 15
BD - Bangladesh 14
BE - Belgio 13
CZ - Repubblica Ceca 13
PL - Polonia 10
IQ - Iraq 9
TR - Turchia 9
SA - Arabia Saudita 8
EC - Ecuador 7
ES - Italia 7
NL - Olanda 7
CO - Colombia 6
AU - Australia 5
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
GT - Guatemala 3
JM - Giamaica 3
MY - Malesia 3
UY - Uruguay 3
AE - Emirati Arabi Uniti 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
SK - Slovacchia (Repubblica Slovacca) 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
IM - Isola di Man 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
SN - Senegal 1
SV - El Salvador 1
TJ - Tagikistan 1
Totale 5.447
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Città #
Dublin 321
Chandler 292
Jacksonville 246
San Jose 210
Nanjing 194
Ashburn 174
Dallas 171
Singapore 166
Hong Kong 128
Beijing 117
Boardman 94
Council Bluffs 74
Nanchang 73
Shenyang 66
Ann Arbor 61
Changsha 58
Hebei 55
Los Angeles 55
Princeton 55
Lawrence 54
Wilmington 54
Medford 48
Lauterbourg 44
Hanoi 42
Ho Chi Minh City 40
Munich 39
New York 39
Jiaxing 36
Johannesburg 29
Shanghai 28
Tianjin 28
Hangzhou 26
Helsinki 25
Tokyo 20
Woodbridge 20
Buffalo 18
Redondo Beach 18
Milan 17
Moscow 17
Brussels 13
Verona 13
Brooklyn 12
Brno 11
San Francisco 11
Turku 11
Denver 10
Montreal 10
Norwalk 10
Stockholm 9
Warsaw 9
Auburn Hills 8
Jinan 8
Orem 8
Atlanta 7
Chennai 7
Santa Clara 7
Toronto 7
Charlotte 6
Da Nang 6
Guangzhou 6
London 6
Mexico City 6
Ningbo 6
Bắc Ninh 5
Houston 5
Kunming 5
São Paulo 5
Amsterdam 4
Boston 4
Chicago 4
Fairfield 4
Lanzhou 4
Manchester 4
Newark 4
Poplar 4
Rio de Janeiro 4
Secaucus 4
Addis Ababa 3
Baghdad 3
Cairo 3
Columbus 3
Cullman 3
Durban 3
Erbil 3
Go Vap 3
Haiphong 3
Joinville 3
Medellín 3
Miami 3
Palermo 3
Pune 3
Riyadh 3
Seattle 3
Sirone 3
Sydney 3
Thái Nguyên 3
Vancouver 3
Belo Horizonte 2
Bishkek 2
Biên Hòa 2
Totale 3.585
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Nome #
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 169
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity 164
A new chromosome instability disorder 155
XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: genetic analysis in one family. 152
A novel mutation and novel features in Nijmegen breakage syndrome. 148
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 145
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. 138
Comment on: Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome. 124
A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage 122
Chromosome abnormalities in lymphocytes and fibroblasts of subjects with multiple endocrine neoplasia type 1. 121
Anticentroameric antibodies and inactive centromeres 121
A novel mechnaism for the origin of supernumerary marker chromosomes 116
Immunodeficiency, centromeric heterochromatin instability of chromosome 1, 9 and 16 and facial anomalies: the ICF syndrome. 114
Chromosome abnormalities and male sterility 114
XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: genetic analysis in one family. 113
Indirect immunofluorescence of inactive centromeres as indicator of centromeric function 111
Orign and clinical significance of inv dup(15) 111
Presumptive mosaic origin of an XX/XY female with ambiguous genitalia 111
A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosome 2;7 and 5;20 109
Alternate centromere inactivation in a pseudodicentric (15;20) associated with a progressive neurological disorder 108
Indirect immunofluorescence of inactive centromere as indicator of centromeric function 106
Smith-Magenis syndrome and growth hormone deficiency 101
Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation 101
Different reaction of inactive centromeres to anticentromeric antibodies 101
Ring chromosome 9 with a 9p22.3-p24.3 duplication 100
Chromosome 10p deletion in a patient with hypoparathyroidism , severe mental reterdation, autism and basal ganglia clacifications 98
Preferential maternal derivation in inv dup (15): analysis of eight new cases 96
Chromosome instability and nibrin protein variants in NBS heterozygotes. 96
Familial occurrence of Turner syndrome: casual event or increased risk? 95
Cytogenetics of multiple endocrine neoplasia syndrome. II. Chromosome abnormalities in an insulinoma and a Glaucoma from two subjects with MEN1. 95
Genetic heterogeneity for a Nijmegen Breakage-like Syndrome 94
Cd bands and centromeric function in dicentric chromosomes 93
Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: a phenotype overlapping Stratton-Parker syndrome 91
The syndrome of partial trisomy 14q 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. 88
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphisms (ICF syndrome). 87
Evidence for human mitotic mutant with pleiotropic effect 87
Xp deficiencies and female fertility 85
The gene for human peptidase A is on band 18q23 and shows triplex and uniplex dosage effect 85
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. 84
Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers. 82
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. 81
Mapping the gene encoding the human erythroid transcriptonal factor NFE1-GF1 to Xp11-23 79
The modes of Y chromosome centromere inactivation in pseudodicentric chromosomes 79
Deviant karyotypes in amniotic fluid cell cultures: a problem in prenatal diagnosis. 78
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes. Clues to the mechanisms of formation. 78
X chromosomes attached by their long arm: replication autonomy of the short arm adjacent to the inactive centromere. 76
Late diagnosis in severe and mild intellectual disability in adulthood. 74
Women heterozygous for deficiency of the (p21-pter) region of the X chromosome are fertile. 74
Deletion of specific sequence or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation 72
The Cd technique identifies a specidic structure to centromeric function 70
Regional assignment of the loci for adenylate kinase to 9q32 and for alfa1 acid glycoprotein to 9q31-q32 64
The role of Yp in sex determination: new evidence from X/Y translocations. 61
Mild Nijmegen breakage syndrome phenotype due to alternative splicing. 61
Totale 5.467
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Categoria #
all - tutte 21.476
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 21.476
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022256 0 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
2025/20261.703 114 176 171 194 202 84 357 53 139 101 76 36
2026/202787 25 62 0 0 0 0 0 0 0 0 0 0
Totale 5.467