IRIS
GUANCIALI FRANCHI, Paolo Emilio
 Distribuzione geografica
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Continente #
EU - Europa 2.746
NA - Nord America 2.671
AS - Asia 1.822
SA - Sud America 101
AF - Africa 5
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 3
Totale 7.351
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Nazione #
US - Stati Uniti d'America 2.650
CN - Cina 608
SG - Singapore 554
UA - Ucraina 505
IT - Italia 399
IE - Irlanda 377
SE - Svezia 326
GB - Regno Unito 315
TR - Turchia 291
DE - Germania 283
IN - India 265
FR - Francia 258
FI - Finlandia 104
BR - Brasile 90
RU - Federazione Russa 85
VN - Vietnam 73
AT - Austria 34
BE - Belgio 16
CA - Canada 16
CZ - Repubblica Ceca 12
RO - Romania 9
GR - Grecia 6
IL - Israele 6
NL - Olanda 6
JP - Giappone 4
MX - Messico 4
UZ - Uzbekistan 4
VE - Venezuela 4
AU - Australia 3
ES - Italia 3
EU - Europa 3
MY - Malesia 3
AR - Argentina 2
BD - Bangladesh 2
EC - Ecuador 2
IR - Iran 2
NO - Norvegia 2
PL - Polonia 2
AE - Emirati Arabi Uniti 1
BN - Brunei Darussalam 1
BO - Bolivia 1
EG - Egitto 1
GE - Georgia 1
GY - Guiana 1
HN - Honduras 1
HR - Croazia 1
IQ - Iraq 1
JO - Giordania 1
KR - Corea 1
KZ - Kazakistan 1
LK - Sri Lanka 1
LT - Lituania 1
MK - Macedonia 1
PY - Paraguay 1
RS - Serbia 1
SA - Arabia Saudita 1
SC - Seychelles 1
SN - Senegal 1
TN - Tunisia 1
TW - Taiwan 1
ZA - Sudafrica 1
Totale 7.351
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Città #
Jacksonville 533
Chandler 432
Dublin 375
Singapore 335
Southend 267
Princeton 191
Izmir 165
Nanjing 159
Dearborn 128
Ashburn 118
Beijing 115
The Dalles 104
Chieti 90
Cambridge 89
Ann Arbor 81
Wilmington 80
Nanchang 73
Dong Ket 71
Boardman 62
Santa Clara 61
Altamura 57
Grafing 55
Hebei 36
Tianjin 36
Vienna 34
Los Angeles 33
Shenyang 33
Kunming 31
Munich 29
Woodbridge 25
Düsseldorf 21
Washington 21
Helsinki 20
Hangzhou 17
Jinan 16
Grevenbroich 15
Jiaxing 15
Brussels 14
Norwalk 13
Rome 13
Augusta 12
New York 12
Pescara 12
Brno 11
Guangzhou 11
Ningbo 11
San Mateo 11
Zhengzhou 10
San Francisco 9
Auburn Hills 8
Bangalore 8
Changsha 8
Changchun 7
Lanzhou 7
Leawood 7
Orange 7
São Paulo 7
Toronto 7
Kocaeli 6
Brooklyn 5
Bucharest 5
Hefei 5
Milan 5
Moscow 5
Teramo 5
Mumbai 4
Rio de Janeiro 4
Seattle 4
Stockholm 4
Tashkent 4
Tokyo 4
Alingsås 3
Atessa 3
Bari 3
Belo Horizonte 3
Bologna 3
Boston 3
Campinas 3
Campobasso 3
Collecorvino 3
Contagem 3
Espoo 3
Kuala Lumpur 3
Las Vegas 3
London 3
Montesilvano Marina 3
Notaresco 3
Pavia 3
Redwood City 3
Tortoreto 3
Vasto 3
Abu Sinan 2
Andover 2
Brasília 2
Cagliari 2
Caserta 2
Chennai 2
Chicago 2
Clifton 2
Edinburgh 2
Totale 4.366
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Nome #
16p13.3 microduplication syndrome: A new characteristic case without intellectual disability 158
Widening of a Y-chromosome interval 6 deletion transmitted from a father to his infertile son accounts for an oligozoospermia critical region distal to RBM1 and DAZ genes 141
A new case of Yq microdeletion transmitted from a normal father to two infertile sons. 133
Discovering a familial Xp11.4 microduplication: Does the mother matter? 125
An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations 125
Hsa-miR-155-5p drives aneuploidy at early stages of cellular transformation 125
A new case of partial 2p trisomy due to de novo interstitial duplication 2p21-22. 119
Lack of correlation between elevated maternal serum hCG during second-trimester biochemical screening and fetal congenital anomaly. 110
Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis 110
A new case of pure partial 7q duplication 107
Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment. 106
A woman with an apparent non mosaic 45,X , delivered a 45,X,der(X) liveborne female 105
Clustering of Y chromosome deletions in subinterval E of interval 6 supports the existence of an oligozoospermia critical region outside the DAZ gene 105
A cytogenetic survey of 13 patients with acute lymphocytic leukemia (ALL). 105
A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man. 104
A newborne with ring chromosome 10, aganglionic megacolon, and renal hypoplasia. 99
Routine fluorescence in situ hybridization analysis for detection of BCR-ABL rearrangement in myeloproliferative disorders 97
Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome. 96
Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis. 95
A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11 95
Case report of newborn with de novo partial trisomy 2q31.2–37.3 and monosomy 9p24.3 95
Cystic hygroma and mid-trimester maternal serum screening. 94
I nuovi orizzonti della diagnosi prenatale 94
Allogeneic bone marrow transplantation for Fanconi anemia. 94
AluI and HaeIII restriction enzyme banding patterns of Macaca fuscata and Cercopithecus aethiops sabaeus chromosomes. 93
Hnrnpl restrains MIR-155 targeting of BUB1 to stabilize aberrant karyotypes of transformed cells in chronic lymphocytic leukemia 93
SHOX mutations detected by FISH and direct sequencing in patients with short stature 92
[Cytogenetic study of 201 subjects with altered reproductive fitness]. 88
Trisomy 18 fetuses with cystic hygroma linked to positive maternal serum Down's syndrome Triple test screening result. 87
A case of triploidy detected by crosstrimester test. 87
Spectral karyotyping (SKY) refinement of a complex karyotype with t(20;21) in a Ph-positive CML patient submitted to peripheral blood stem cell transplantation 84
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). 83
Fetal facial profile in Pallister-Killian syndrome. 81
Principi dello screening per la Sindrome di Down con markers multipli 81
A Mosaic Ring Chromosome 21 in a Patient with Mild Intellectual Disability not Evidenced by Array-Cgh 81
Prenatal diagnosis using the triple test 80
A new case of chronic myelogenous leukemia with 14q+ marker and review of the literature. 80
Aneuploidy screening using circulating fetal cells in maternal blood by dual-probe FISH protocol: A prospective feasibility study on a series of 172 pregnant women 80
INOSITIDE-SPECIFIC PHOSPHOLIPASE Cbeta1 GENE DELETION IN THE PROGRESSION OF MYELODYSPLASTIC SYNDROME TO ACUTE MYELOID LEUKEMIA 79
The methylenetethrahydrofolate reductase (MTHFR) C677T polymorphism and male infertility in Italy. 79
Molecular studies in three patients with isodicentric Y chromosome 79
[Cytogenetic study of 140 patients with changes in sexual features]. 79
Chromosome changes in 19 patients with Waldenström's macroglobulinemia. 79
Complex translocation of the Ph chromosome and Ph negative in CML arise from similar mechanisms as evidenced by FISH analysis 78
Non-invasive prenatal screening: a 20-year experience in Italy 78
Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis. 77
Epigenetics and human reproduction: the primary prevention of the noncommunicable diseases. 77
Philadelphia (Ph), 14q+ and 1q+ chromosomes in immunoblastic phase (Richter's syndrome) in a patient with T chronic lymphocytic leukaemia. 76
Fetal facial profile in Pallister-Killian syndrome 76
Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy. 76
Duplication Xp22.2 and pseudoisodicentricYq detected by FISH and PCR in a sterile male 75
P53 loss and point mutation are associated with suppression of apoptosis and progression of CML into myeloid blastic crisis 75
FISH analysis in detecting 9p duplication (p22p24) 74
Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant women 74
Screening biochimici prenatali: l’esperienza del tri-test in 17.869 gravidanze della regione Abruzzo. 73
Molecular characterization of two extra marker chromosomes detected at prenatal diagnosis 73
On chromosomal DNA modifications by chemical and physical treatment of C-bands. 73
Prognostic value of atypical chromosomal changes during chronic myeloid leukemia. 73
Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation 73
Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. 73
Effect of HpaII and MspI restriction endonucleases on chronic myelogenous leukemia chromosomes. Detection of CpG dinucleotide demethylation in situ. 72
Effectiveness of crosstrimester test in selecting high-risk pregnant women to undergo invasive prenatal diagnosis 71
Biochemical and molecular characterization of von Willebrand disease type 2N in a pregnant patient who gave birth under analgesia with remifentanil. 71
Heterochromatic polymorphisms of chromosome 16 evidenced by Alu I endonuclease digestion in chronic myelogenous leukemia. 71
Karyotype refinement by multicolor fluorescence in situ hybridization analysis in 18 patients with acute lymphoblastic leukemia. 70
Cytogenetic study of the heterochromatic polymorphisms in 100 subjects with Down syndrome and their parents. 70
Cytogenetics and acute non lymphocytic leukemia. 69
De novo complex chromosome rearrangement detected by fluorescence in situ hybridization on amniotic fluid cells 68
Chromosome 11 rearrangements and specific MLL amplification revealed by spectral karyotyping in a patient with refractory anaemia with excess of blasts(RAEB)”. 68
Karyotypic changes identified by HaeIII restriction endonuclease banding in a patient with M2 acute non-lymphoblastic leukemia. 66
Chromosome abnormalities in breast fibroadenomas 66
FISH detection of mixed chimerism in 33 patients submitted to bone marrow transplantation 65
Cytogenetics in patients with chronic myelogenous leukemia treated with bone marrow transplantation. 65
Hinf I restriction endonuclease digestion on human fixed metaphase chromosomes. 65
Bone marrow transplantation for thalassemia in Pescara. 63
In situ Hpa II endonuclease digestion on fixed chromatin of solid tumor cells. 63
Translocation (8;11)(q12-13;q21) in embryonal rhabdomyosarcoma. 63
Fetal detection of dup 9p11-12. 62
Optimal cut-offs for Down syndrome contingent screening in a population of 10,156 pregnant women. 62
Cytogenetic survey of sixty-one patients with preleukemic syndrome including myeloproliferative and myelodysplastic diseases. 61
Chromosome abnormalities and heterochromatin polymorphism in 127 couples with a history of spontaneous abortions and/or malformed offspring. 60
Le misure di rischio nello screening prenatale per i difetti del tubo neurale e la Sindrome di Down 60
Chromosome abnormalities in PHA-stimulated and non stimulated bone marrow cultures from patients with non Hodgkin lymphoma. 59
Retrospective investigation of hematopoietic chimerism after BMT by PCR amplification hypervariable DNA regions 58
Cytogenetic survey of 31 patients treated with bone marrow transplantation for acute nonlymphocytic and acute lymphoblastic leukemias. 57
Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene 56
Leukemic evolution in three patients with myelodysplastic syndrome and unusual chromosome changes. 56
Cytogenetic survey of 80 patients with acute nonlymphocytic leukemia. 54
Detection of minimal residual disease by polymerase chain reaction in patients with different hematologic diseases treated by bone marrow transplantation. 52
Elevated maternal serum α-fetoprotein level in a fetus with Beckwith-Wiedemann syndrome in a second trimester of pregnancy. 45
Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome 44
Long-term remission in BCR/ABL-positive AML-M6 patient treated with Imatinib Mesylate. 37
A duane patient with ins(6;8) (q25;q11.2q12): a putative location of a duane locus to band 8q12 12
Molecular study of AZF locus by STS-PCR in 126 patients with idiopathic infertility 4
Totale 7.481
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Categoria #
all - tutte 29.514
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 29.514
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20206 0 0 0 0 0 0 0 0 0 0 0 6
2020/2021769 91 3 98 5 26 112 7 3 201 103 29 91
2021/2022411 15 12 3 55 30 61 5 40 21 7 46 116
2022/20231.357 103 200 92 138 137 272 81 112 149 11 35 27
2023/2024569 32 19 45 21 38 189 111 28 3 18 2 63
2024/20251.231 112 254 201 37 32 20 28 37 205 82 178 45
Totale 7.481