IRIS
MARASCHIO, PAOLA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 1.253
EU - Europa 997
AS - Asia 662
AF - Africa 4
SA - Sud America 4
OC - Oceania 3
Continente sconosciuto - Info sul continente non disponibili 1
Totale 2.924
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 1.248
CN - Cina 635
IE - Irlanda 317
UA - Ucraina 198
FI - Finlandia 130
DE - Germania 106
SE - Svezia 85
GB - Regno Unito 68
IT - Italia 37
FR - Francia 36
BE - Belgio 12
JP - Giappone 11
CA - Canada 5
IN - India 4
IR - Iran 4
RU - Federazione Russa 3
TR - Turchia 3
AU - Australia 2
BR - Brasile 2
LA - Repubblica Popolare Democratica del Laos 2
MU - Mauritius 2
PE - Perù 2
CH - Svizzera 1
ES - Italia 1
EU - Europa 1
IM - Isola di Man 1
KR - Corea 1
MA - Marocco 1
NL - Olanda 1
NZ - Nuova Zelanda 1
PL - Polonia 1
SA - Arabia Saudita 1
TN - Tunisia 1
VN - Vietnam 1
Totale 2.924
Salva come PNG Salva come JPEG
Città #
Dublin 317
Chandler 292
Jacksonville 245
Nanjing 193
Ashburn 81
Nanchang 72
Shenyang 64
Ann Arbor 61
Hebei 55
Princeton 55
Beijing 54
Lawrence 54
Wilmington 53
Changsha 51
Medford 48
Boardman 36
Jiaxing 36
New York 29
Tianjin 27
Hangzhou 23
Helsinki 22
Woodbridge 20
Shanghai 19
Milan 14
Verona 13
Brussels 12
Tokyo 11
Norwalk 10
Auburn Hills 8
Jinan 7
Ningbo 6
Los Angeles 5
San Francisco 5
Fairfield 4
Kunming 4
Lanzhou 4
Cullman 3
Pune 3
Toronto 3
Borås 2
Dearborn 2
Guangzhou 2
Houston 2
Melbourne 2
Pavia 2
Seattle 2
St Louis 2
Vientiane 2
Washington 2
Zhengzhou 2
Amsterdam 1
Anchorage 1
Andover 1
Auckland 1
Berlin 1
Brooklyn 1
Casier 1
Douglas 1
Düsseldorf 1
Fuzhou 1
Guarulhos 1
Gunzenhausen 1
Haikou 1
Kemerovo 1
Kish 1
Leawood 1
Lima 1
Markham 1
Monmouth Junction 1
Moquegua 1
Ottawa 1
Rabat 1
Redmond 1
Riyadh 1
Sacramento 1
San Diego 1
Seodaemun-gu 1
Stanton 1
Taizhou 1
Tomsk 1
Tunis 1
Warsaw 1
Totale 2.073
Salva come PNG Salva come JPEG
Nome #
XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: genetic analysis in one family. 85
A new chromosome instability disorder 83
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. 81
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity 79
Ring chromosome 9 with a 9p22.3-p24.3 duplication 75
A novel mutation and novel features in Nijmegen breakage syndrome. 75
Comment on: Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome. 73
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 70
Smith-Magenis syndrome and growth hormone deficiency 66
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 66
Anticentroameric antibodies and inactive centromeres 65
Chromosome abnormalities in lymphocytes and fibroblasts of subjects with multiple endocrine neoplasia type 1. 64
A novel mechnaism for the origin of supernumerary marker chromosomes 63
Preferential maternal derivation in inv dup (15): analysis of eight new cases 62
XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: genetic analysis in one family. 62
A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage 61
Alternate centromere inactivation in a pseudodicentric (15;20) associated with a progressive neurological disorder 61
Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: a phenotype overlapping Stratton-Parker syndrome 59
Indirect immunofluorescence of inactive centromeres as indicator of centromeric function 59
Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation 58
Orign and clinical significance of inv dup(15) 57
Presumptive mosaic origin of an XX/XY female with ambiguous genitalia 57
Indirect immunofluorescence of inactive centromere as indicator of centromeric function 56
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. 55
Xp deficiencies and female fertility 55
Immunodeficiency, centromeric heterochromatin instability of chromosome 1, 9 and 16 and facial anomalies: the ICF syndrome. 55
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. 54
The gene for human peptidase A is on band 18q23 and shows triplex and uniplex dosage effect 54
Familial occurrence of Turner syndrome: casual event or increased risk? 53
Evidence for human mitotic mutant with pleiotropic effect 53
Chromosome abnormalities and male sterility 53
Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers. 52
A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosome 2;7 and 5;20 51
Chromosome 10p deletion in a patient with hypoparathyroidism , severe mental reterdation, autism and basal ganglia clacifications 50
Genetic heterogeneity for a Nijmegen Breakage-like Syndrome 49
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphisms (ICF syndrome). 46
Mapping the gene encoding the human erythroid transcriptonal factor NFE1-GF1 to Xp11-23 45
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes. Clues to the mechanisms of formation. 45
The modes of Y chromosome centromere inactivation in pseudodicentric chromosomes 44
Different reaction of inactive centromeres to anticentromeric antibodies 43
Cd bands and centromeric function in dicentric chromosomes 43
Late diagnosis in severe and mild intellectual disability in adulthood. 42
Deviant karyotypes in amniotic fluid cell cultures: a problem in prenatal diagnosis. 42
The syndrome of partial trisomy 14q 42
Women heterozygous for deficiency of the (p21-pter) region of the X chromosome are fertile. 42
Chromosome instability and nibrin protein variants in NBS heterozygotes. 41
The Cd technique identifies a specidic structure to centromeric function 41
X chromosomes attached by their long arm: replication autonomy of the short arm adjacent to the inactive centromere. 40
Cytogenetics of multiple endocrine neoplasia syndrome. II. Chromosome abnormalities in an insulinoma and a Glaucoma from two subjects with MEN1. 40
Deletion of specific sequence or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation 39
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. 38
The role of Yp in sex determination: new evidence from X/Y translocations. 36
Regional assignment of the loci for adenylate kinase to 9q32 and for alfa1 acid glycoprotein to 9q31-q32 32
Mild Nijmegen breakage syndrome phenotype due to alternative splicing. 32
Totale 2.944
Salva come PNG Salva come JPEG
Categoria #
all - tutte 9.191
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 9.191
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/20194 0 0 0 0 0 0 0 0 0 0 0 4
2019/2020765 219 317 1 37 1 38 11 40 3 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
2023/2024266 29 52 5 21 26 84 1 21 1 8 6 12
Totale 2.944