IRIS
MARASCHIO, PAOLA
 Distribuzione geografica
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Continente #
NA - Nord America 1.834
AS - Asia 1.313
EU - Europa 1.284
SA - Sud America 116
AF - Africa 18
OC - Oceania 3
Continente sconosciuto - Info sul continente non disponibili 1
Totale 4.569
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Nazione #
US - Stati Uniti d'America 1.796
CN - Cina 808
IE - Irlanda 318
SG - Singapore 286
UA - Ucraina 200
DE - Germania 155
FI - Finlandia 144
RU - Federazione Russa 138
HK - Hong Kong 117
SE - Svezia 94
BR - Brasile 90
GB - Regno Unito 90
IT - Italia 52
FR - Francia 40
VN - Vietnam 30
CA - Canada 21
JP - Giappone 15
BE - Belgio 13
CZ - Repubblica Ceca 13
IN - India 13
MX - Messico 11
PL - Polonia 10
AR - Argentina 7
BD - Bangladesh 7
ZA - Sudafrica 7
EC - Ecuador 6
TR - Turchia 6
ES - Italia 5
IQ - Iraq 4
IR - Iran 4
SA - Arabia Saudita 4
ID - Indonesia 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
LA - Repubblica Popolare Democratica del Laos 2
LT - Lituania 2
MA - Marocco 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
KE - Kenya 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 4.569
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Città #
Dublin 318
Chandler 292
Jacksonville 245
Nanjing 194
Dallas 166
Ashburn 141
Singapore 124
Hong Kong 117
Beijing 116
Boardman 92
Nanchang 73
Shenyang 66
Ann Arbor 61
Changsha 58
Hebei 55
Princeton 55
Lawrence 54
Wilmington 54
Medford 48
Los Angeles 47
Munich 39
New York 37
Jiaxing 36
Tianjin 28
Shanghai 27
Hangzhou 26
Helsinki 25
Woodbridge 20
Redondo Beach 18
Buffalo 17
Milan 17
Moscow 16
Tokyo 15
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
Lanzhou 4
Poplar 4
Rio de Janeiro 4
Secaucus 4
Chicago 3
Cullman 3
Houston 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
Joinville 2
Melbourne 2
Miami 2
Montevideo 2
Natal 2
Orem 2
Ottawa 2
Pavia 2
Prague 2
Querétaro 2
Serra Talhada 2
Shijiazhuang 2
St Louis 2
The Dalles 2
Vancouver 2
Vientiane 2
Washington 2
Zhengzhou 2
Adana 1
Almirante Tamandaré 1
Alvorada 1
Totale 3.002
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Nome #
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity 145
XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: genetic analysis in one family. 134
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 134
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. 113
Comment on: Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome. 106
A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage 105
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
Orign and clinical significance of inv dup(15) 97
Immunodeficiency, centromeric heterochromatin instability of chromosome 1, 9 and 16 and facial anomalies: the ICF syndrome. 97
A novel mechnaism for the origin of supernumerary marker chromosomes 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
Indirect immunofluorescence of inactive centromeres as indicator of centromeric function 91
Ring chromosome 9 with a 9p22.3-p24.3 duplication 90
Indirect immunofluorescence of inactive centromere as indicator of centromeric function 89
Chromosome abnormalities and male sterility 89
Smith-Magenis syndrome and growth hormone deficiency 88
Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation 86
A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosome 2;7 and 5;20 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 81
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
Xp deficiencies and female fertility 78
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 70
The gene for human peptidase A is on band 18q23 and shows triplex and uniplex dosage effect 70
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. 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. 66
Cytogenetics of multiple endocrine neoplasia syndrome. II. Chromosome abnormalities in an insulinoma and a Glaucoma from two subjects with MEN1. 66
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. 60
Late diagnosis in severe and mild intellectual disability in adulthood. 59
Deletion of specific sequence or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation 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 4.589
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Categoria #
all - tutte 18.005
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 18.005
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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
2025/2026912 114 176 171 194 202 55 0 0 0 0 0 0
Totale 4.589