IRIS
GUANCIALI FRANCHI, Paolo Emilio
 Distribuzione geografica
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Continente #
NA - Nord America 3.304
EU - Europa 2.864
AS - Asia 2.603
SA - Sud America 206
AF - Africa 19
Continente sconosciuto - Info sul continente non disponibili 4
OC - Oceania 3
Totale 9.003
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Nazione #
US - Stati Uniti d'America 3.236
SG - Singapore 939
CN - Cina 875
UA - Ucraina 510
IT - Italia 404
IE - Irlanda 378
GB - Regno Unito 343
SE - Svezia 333
DE - Germania 319
TR - Turchia 297
IN - India 282
FR - Francia 266
BR - Brasile 170
VN - Vietnam 131
FI - Finlandia 107
RU - Federazione Russa 89
CA - Canada 41
AT - Austria 34
JP - Giappone 21
MX - Messico 20
BE - Belgio 16
ZA - Sudafrica 13
CZ - Repubblica Ceca 12
AR - Argentina 11
PL - Polonia 11
BD - Bangladesh 10
RO - Romania 9
ES - Italia 8
KR - Corea 8
NL - Olanda 8
IQ - Iraq 7
GR - Grecia 6
IL - Israele 6
UZ - Uzbekistan 6
CL - Cile 5
EC - Ecuador 5
PY - Paraguay 5
VE - Venezuela 5
LT - Lituania 4
AU - Australia 3
EU - Europa 3
MY - Malesia 3
SA - Arabia Saudita 3
AE - Emirati Arabi Uniti 2
CR - Costa Rica 2
GD - Grenada 2
IR - Iran 2
NO - Norvegia 2
PK - Pakistan 2
RS - Serbia 2
AZ - Azerbaigian 1
BB - Barbados 1
BN - Brunei Darussalam 1
BO - Bolivia 1
CO - Colombia 1
CW - ???statistics.table.value.countryCode.CW??? 1
DZ - Algeria 1
EG - Egitto 1
GE - Georgia 1
GY - Guiana 1
HN - Honduras 1
HR - Croazia 1
HU - Ungheria 1
ID - Indonesia 1
JM - Giamaica 1
JO - Giordania 1
KE - Kenya 1
KZ - Kazakistan 1
LK - Sri Lanka 1
MK - Macedonia 1
NP - Nepal 1
PE - Perù 1
SC - Seychelles 1
SN - Senegal 1
TN - Tunisia 1
TW - Taiwan 1
UY - Uruguay 1
Totale 9.003
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Città #
Singapore 627
Jacksonville 534
Chandler 432
Dublin 376
Southend 267
Beijing 258
Ashburn 211
Princeton 191
Izmir 165
Nanjing 159
Dallas 145
Dearborn 128
The Dalles 104
Los Angeles 93
Chieti 90
Cambridge 89
Ann Arbor 81
Wilmington 80
Nanchang 73
Dong Ket 71
Santa Clara 70
Tongling 63
Boardman 62
Munich 61
Altamura 57
Grafing 55
Buffalo 49
New York 37
Hebei 36
Tianjin 36
Vienna 34
Shenyang 33
Kunming 31
Woodbridge 25
Washington 23
Düsseldorf 21
Helsinki 21
Tokyo 21
Ho Chi Minh City 20
Brooklyn 19
Hangzhou 17
Hanoi 16
Jinan 16
São Paulo 16
Grevenbroich 15
Jiaxing 15
Brussels 14
Rome 14
Augusta 13
Norwalk 13
Johannesburg 12
Montreal 12
Pescara 12
Toronto 12
Brno 11
Guangzhou 11
Ningbo 11
San Francisco 11
San Mateo 11
Stockholm 11
Warsaw 11
Chennai 10
Poplar 10
Redondo Beach 10
Zhengzhou 10
Denver 9
Orem 9
Auburn Hills 8
Bangalore 8
Changsha 8
Changchun 7
Chicago 7
Council Bluffs 7
Hefei 7
Lanzhou 7
Leawood 7
London 7
Orange 7
Querétaro 7
Seattle 7
Belo Horizonte 6
Frankfurt am Main 6
Kocaeli 6
Mumbai 6
Phoenix 6
Seoul 6
Tashkent 6
Ankara 5
Boston 5
Brasília 5
Bucharest 5
Campinas 5
Houston 5
Las Vegas 5
Milan 5
Moscow 5
Rio de Janeiro 5
Teramo 5
Atlanta 4
Manchester 4
Totale 5.479
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Nome #
16p13.3 microduplication syndrome: A new characteristic case without intellectual disability 178
A new case of Yq microdeletion transmitted from a normal father to two infertile sons. 165
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 155
An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations 153
Hsa-miR-155-5p drives aneuploidy at early stages of cellular transformation 148
Discovering a familial Xp11.4 microduplication: Does the mother matter? 144
A new case of partial 2p trisomy due to de novo interstitial duplication 2p21-22. 142
Lack of correlation between elevated maternal serum hCG during second-trimester biochemical screening and fetal congenital anomaly. 136
A new case of pure partial 7q duplication 134
Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis 133
A cytogenetic survey of 13 patients with acute lymphocytic leukemia (ALL). 132
Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment. 128
Clustering of Y chromosome deletions in subinterval E of interval 6 supports the existence of an oligozoospermia critical region outside the DAZ gene 125
A woman with an apparent non mosaic 45,X , delivered a 45,X,der(X) liveborne female 124
Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis. 123
A newborne with ring chromosome 10, aganglionic megacolon, and renal hypoplasia. 122
Cystic hygroma and mid-trimester maternal serum screening. 120
A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man. 119
I nuovi orizzonti della diagnosi prenatale 117
A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11 117
AluI and HaeIII restriction enzyme banding patterns of Macaca fuscata and Cercopithecus aethiops sabaeus chromosomes. 117
Case report of newborn with de novo partial trisomy 2q31.2–37.3 and monosomy 9p24.3 117
Routine fluorescence in situ hybridization analysis for detection of BCR-ABL rearrangement in myeloproliferative disorders 115
Allogeneic bone marrow transplantation for Fanconi anemia. 114
SHOX mutations detected by FISH and direct sequencing in patients with short stature 113
A case of triploidy detected by crosstrimester test. 113
[Cytogenetic study of 201 subjects with altered reproductive fitness]. 113
Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome. 112
Hnrnpl restrains MIR-155 targeting of BUB1 to stabilize aberrant karyotypes of transformed cells in chronic lymphocytic leukemia 112
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). 110
A new case of chronic myelogenous leukemia with 14q+ marker and review of the literature. 105
Non-invasive prenatal screening: a 20-year experience in Italy 105
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 104
A Mosaic Ring Chromosome 21 in a Patient with Mild Intellectual Disability not Evidenced by Array-Cgh 104
INOSITIDE-SPECIFIC PHOSPHOLIPASE Cbeta1 GENE DELETION IN THE PROGRESSION OF MYELODYSPLASTIC SYNDROME TO ACUTE MYELOID LEUKEMIA 103
Trisomy 18 fetuses with cystic hygroma linked to positive maternal serum Down's syndrome Triple test screening result. 102
Epigenetics and human reproduction: the primary prevention of the noncommunicable diseases. 102
Complex translocation of the Ph chromosome and Ph negative in CML arise from similar mechanisms as evidenced by FISH analysis 101
Principi dello screening per la Sindrome di Down con markers multipli 99
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 99
[Cytogenetic study of 140 patients with changes in sexual features]. 98
Fetal facial profile in Pallister-Killian syndrome 96
Chromosome changes in 19 patients with Waldenström's macroglobulinemia. 95
Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation 95
Duplication Xp22.2 and pseudoisodicentricYq detected by FISH and PCR in a sterile male 94
Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant women 93
Biochemical and molecular characterization of von Willebrand disease type 2N in a pregnant patient who gave birth under analgesia with remifentanil. 93
Fetal facial profile in Pallister-Killian syndrome. 92
Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis. 91
Molecular studies in three patients with isodicentric Y chromosome 91
The methylenetethrahydrofolate reductase (MTHFR) C677T polymorphism and male infertility in Italy. 90
Philadelphia (Ph), 14q+ and 1q+ chromosomes in immunoblastic phase (Richter's syndrome) in a patient with T chronic lymphocytic leukaemia. 90
Bone marrow transplantation for thalassemia in Pescara. 90
Prenatal diagnosis using the triple test 89
Effect of HpaII and MspI restriction endonucleases on chronic myelogenous leukemia chromosomes. Detection of CpG dinucleotide demethylation in situ. 89
P53 loss and point mutation are associated with suppression of apoptosis and progression of CML into myeloid blastic crisis 87
Chromosome abnormalities in breast fibroadenomas 87
Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy. 87
Prognostic value of atypical chromosomal changes during chronic myeloid leukemia. 86
Cytogenetic survey of sixty-one patients with preleukemic syndrome including myeloproliferative and myelodysplastic diseases. 86
FISH analysis in detecting 9p duplication (p22p24) 85
Effectiveness of crosstrimester test in selecting high-risk pregnant women to undergo invasive prenatal diagnosis 85
Molecular characterization of two extra marker chromosomes detected at prenatal diagnosis 85
Cytogenetics and acute non lymphocytic leukemia. 85
Screening biochimici prenatali: l’esperienza del tri-test in 17.869 gravidanze della regione Abruzzo. 84
On chromosomal DNA modifications by chemical and physical treatment of C-bands. 83
Heterochromatic polymorphisms of chromosome 16 evidenced by Alu I endonuclease digestion in chronic myelogenous leukemia. 83
Cytogenetics in patients with chronic myelogenous leukemia treated with bone marrow transplantation. 83
Hinf I restriction endonuclease digestion on human fixed metaphase chromosomes. 82
Karyotype refinement by multicolor fluorescence in situ hybridization analysis in 18 patients with acute lymphoblastic leukemia. 81
Karyotypic changes identified by HaeIII restriction endonuclease banding in a patient with M2 acute non-lymphoblastic leukemia. 81
Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. 81
Chromosome 11 rearrangements and specific MLL amplification revealed by spectral karyotyping in a patient with refractory anaemia with excess of blasts(RAEB)”. 80
De novo complex chromosome rearrangement detected by fluorescence in situ hybridization on amniotic fluid cells 79
Cytogenetic study of the heterochromatic polymorphisms in 100 subjects with Down syndrome and their parents. 79
In situ Hpa II endonuclease digestion on fixed chromatin of solid tumor cells. 79
Le misure di rischio nello screening prenatale per i difetti del tubo neurale e la Sindrome di Down 79
Chromosome abnormalities in PHA-stimulated and non stimulated bone marrow cultures from patients with non Hodgkin lymphoma. 76
FISH detection of mixed chimerism in 33 patients submitted to bone marrow transplantation 74
Fetal detection of dup 9p11-12. 74
Optimal cut-offs for Down syndrome contingent screening in a population of 10,156 pregnant women. 74
Translocation (8;11)(q12-13;q21) in embryonal rhabdomyosarcoma. 73
Cytogenetic survey of 31 patients treated with bone marrow transplantation for acute nonlymphocytic and acute lymphoblastic leukemias. 72
Chromosome abnormalities and heterochromatin polymorphism in 127 couples with a history of spontaneous abortions and/or malformed offspring. 70
Retrospective investigation of hematopoietic chimerism after BMT by PCR amplification hypervariable DNA regions 69
Cytogenetic survey of 80 patients with acute nonlymphocytic leukemia. 67
Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene 66
Leukemic evolution in three patients with myelodysplastic syndrome and unusual chromosome changes. 66
Detection of minimal residual disease by polymerase chain reaction in patients with different hematologic diseases treated by bone marrow transplantation. 63
Elevated maternal serum α-fetoprotein level in a fetus with Beckwith-Wiedemann syndrome in a second trimester of pregnancy. 56
Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome 56
Long-term remission in BCR/ABL-positive AML-M6 patient treated with Imatinib Mesylate. 45
A duane patient with ins(6;8) (q25;q11.2q12): a putative location of a duane locus to band 8q12 25
First case of two supernumerary markers derived from chromosome 5 and chromosome 8 13
Molecular study of AZF locus by STS-PCR in 126 patients with idiopathic infertility 9
Totale 9.136
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Categoria #
all - tutte 35.319
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 35.319
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021546 0 0 0 0 0 112 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
2024/20251.465 112 254 201 37 32 20 28 37 205 82 178 279
2025/20261.421 290 132 252 400 309 38 0 0 0 0 0 0
Totale 9.136