IRIS
GUANCIALI FRANCHI, Paolo Emilio
 Distribuzione geografica
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Continente #
EU - Europa 2.664
NA - Nord America 2.278
AS - Asia 1.295
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 2
AF - Africa 1
SA - Sud America 1
Totale 6.244
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Nazione #
US - Stati Uniti d'America 2.269
CN - Cina 604
UA - Ucraina 505
IT - Italia 389
IE - Irlanda 377
SE - Svezia 323
GB - Regno Unito 311
TR - Turchia 288
DE - Germania 262
IN - India 260
FR - Francia 250
FI - Finlandia 87
RU - Federazione Russa 81
VN - Vietnam 73
SG - Singapore 56
AT - Austria 32
BE - Belgio 15
CZ - Repubblica Ceca 11
CA - Canada 9
RO - Romania 9
GR - Grecia 6
IL - Israele 6
NL - Olanda 4
EU - Europa 3
MY - Malesia 3
AU - Australia 2
IR - Iran 2
EC - Ecuador 1
ES - Italia 1
JP - Giappone 1
KR - Corea 1
NO - Norvegia 1
SC - Seychelles 1
TW - Taiwan 1
Totale 6.244
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Città #
Jacksonville 533
Chandler 432
Dublin 375
Southend 267
Princeton 191
Izmir 165
Nanjing 159
Dearborn 128
Ashburn 115
Beijing 115
Chieti 90
Cambridge 89
Ann Arbor 81
Wilmington 80
Nanchang 73
Dong Ket 71
Boardman 62
Altamura 57
Grafing 55
Singapore 38
Hebei 36
Tianjin 35
Shenyang 33
Vienna 32
Kunming 31
Woodbridge 25
Düsseldorf 21
Washington 21
Los Angeles 19
Hangzhou 17
Jinan 16
Munich 16
Grevenbroich 15
Jiaxing 15
Brussels 13
Norwalk 13
Rome 13
Augusta 12
Brno 11
Ningbo 11
Pescara 11
San Mateo 11
Guangzhou 10
Zhengzhou 10
Auburn Hills 8
Bangalore 8
Changsha 8
Changchun 7
Lanzhou 7
Leawood 7
New York 7
Orange 7
Helsinki 6
Kocaeli 6
Toronto 6
Bucharest 5
Hefei 5
Milan 5
Moscow 5
Teramo 5
Alingsås 3
Atessa 3
Bari 3
Bologna 3
Campobasso 3
Collecorvino 3
Kuala Lumpur 3
Montesilvano Marina 3
Mumbai 3
Notaresco 3
Pavia 3
Redwood City 3
Seattle 3
Tortoreto 3
Vasto 3
Abu Sinan 2
Andover 2
Caserta 2
Clifton 2
Edinburgh 2
Fano 2
Fuzhou 2
Haikou 2
Hanoi 2
Harbin 2
Isernia 2
L’Aquila 2
Melendugno 2
Newcastle 2
Pianella 2
Ranipet 2
Roseto Degli Abruzzi 2
Sainte-maxime 2
San Mango 2
San Vito Chietino 2
Waanrode 2
Walnut 2
Akron 1
Ardabil 1
Avezzano 1
Totale 3.817
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Nome #
16p13.3 microduplication syndrome: A new characteristic case without intellectual disability 142
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 130
A new case of Yq microdeletion transmitted from a normal father to two infertile sons. 111
Hsa-miR-155-5p drives aneuploidy at early stages of cellular transformation 110
Discovering a familial Xp11.4 microduplication: Does the mother matter? 107
Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis 101
An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations 98
A new case of partial 2p trisomy due to de novo interstitial duplication 2p21-22. 95
Clustering of Y chromosome deletions in subinterval E of interval 6 supports the existence of an oligozoospermia critical region outside the DAZ gene 93
A new case of pure partial 7q duplication 92
A cytogenetic survey of 13 patients with acute lymphocytic leukemia (ALL). 91
Routine fluorescence in situ hybridization analysis for detection of BCR-ABL rearrangement in myeloproliferative disorders 90
Lack of correlation between elevated maternal serum hCG during second-trimester biochemical screening and fetal congenital anomaly. 88
Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis. 87
I nuovi orizzonti della diagnosi prenatale 86
SHOX mutations detected by FISH and direct sequencing in patients with short stature 86
A woman with an apparent non mosaic 45,X , delivered a 45,X,der(X) liveborne female 84
Trisomy 18 fetuses with cystic hygroma linked to positive maternal serum Down's syndrome Triple test screening result. 81
Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment. 81
Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome. 80
A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11 80
[Cytogenetic study of 201 subjects with altered reproductive fitness]. 79
A case of triploidy detected by crosstrimester test. 78
A newborne with ring chromosome 10, aganglionic megacolon, and renal hypoplasia. 77
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 76
AluI and HaeIII restriction enzyme banding patterns of Macaca fuscata and Cercopithecus aethiops sabaeus chromosomes. 76
Hnrnpl restrains MIR-155 targeting of BUB1 to stabilize aberrant karyotypes of transformed cells in chronic lymphocytic leukemia 76
A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man. 76
The methylenetethrahydrofolate reductase (MTHFR) C677T polymorphism and male infertility in Italy. 73
Prenatal diagnosis using the triple test 73
Complex translocation of the Ph chromosome and Ph negative in CML arise from similar mechanisms as evidenced by FISH analysis 72
INOSITIDE-SPECIFIC PHOSPHOLIPASE Cbeta1 GENE DELETION IN THE PROGRESSION OF MYELODYSPLASTIC SYNDROME TO ACUTE MYELOID LEUKEMIA 71
Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis. 70
Chromosome changes in 19 patients with Waldenström's macroglobulinemia. 70
Case report of newborn with de novo partial trisomy 2q31.2–37.3 and monosomy 9p24.3 70
Molecular studies in three patients with isodicentric Y chromosome 69
A new case of chronic myelogenous leukemia with 14q+ marker and review of the literature. 69
Principi dello screening per la Sindrome di Down con markers multipli 69
Cystic hygroma and mid-trimester maternal serum screening. 68
Duplication Xp22.2 and pseudoisodicentricYq detected by FISH and PCR in a sterile male 68
P53 loss and point mutation are associated with suppression of apoptosis and progression of CML into myeloid blastic crisis 68
FISH analysis in detecting 9p duplication (p22p24) 67
[Cytogenetic study of 140 patients with changes in sexual features]. 67
Fetal facial profile in Pallister-Killian syndrome 67
Non-invasive prenatal screening: a 20-year experience in Italy 67
Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy. 67
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). 66
Molecular characterization of two extra marker chromosomes detected at prenatal diagnosis 66
Prognostic value of atypical chromosomal changes during chronic myeloid leukemia. 66
Allogeneic bone marrow transplantation for Fanconi anemia. 66
Epigenetics and human reproduction: the primary prevention of the noncommunicable diseases. 66
Screening biochimici prenatali: l’esperienza del tri-test in 17.869 gravidanze della regione Abruzzo. 65
Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant women 65
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 65
On chromosomal DNA modifications by chemical and physical treatment of C-bands. 63
Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation 63
A Mosaic Ring Chromosome 21 in a Patient with Mild Intellectual Disability not Evidenced by Array-Cgh 63
Effectiveness of crosstrimester test in selecting high-risk pregnant women to undergo invasive prenatal diagnosis 62
Philadelphia (Ph), 14q+ and 1q+ chromosomes in immunoblastic phase (Richter's syndrome) in a patient with T chronic lymphocytic leukaemia. 62
Effect of HpaII and MspI restriction endonucleases on chronic myelogenous leukemia chromosomes. Detection of CpG dinucleotide demethylation in situ. 62
De novo complex chromosome rearrangement detected by fluorescence in situ hybridization on amniotic fluid cells 60
Chromosome 11 rearrangements and specific MLL amplification revealed by spectral karyotyping in a patient with refractory anaemia with excess of blasts(RAEB)”. 60
Heterochromatic polymorphisms of chromosome 16 evidenced by Alu I endonuclease digestion in chronic myelogenous leukemia. 60
Cytogenetic study of the heterochromatic polymorphisms in 100 subjects with Down syndrome and their parents. 60
Karyotype refinement by multicolor fluorescence in situ hybridization analysis in 18 patients with acute lymphoblastic leukemia. 59
FISH detection of mixed chimerism in 33 patients submitted to bone marrow transplantation 59
Biochemical and molecular characterization of von Willebrand disease type 2N in a pregnant patient who gave birth under analgesia with remifentanil. 59
Cytogenetics and acute non lymphocytic leukemia. 59
Bone marrow transplantation for thalassemia in Pescara. 57
Cytogenetics in patients with chronic myelogenous leukemia treated with bone marrow transplantation. 57
Hinf I restriction endonuclease digestion on human fixed metaphase chromosomes. 57
Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. 57
Retrospective investigation of hematopoietic chimerism after BMT by PCR amplification hypervariable DNA regions 56
Fetal facial profile in Pallister-Killian syndrome. 56
Karyotypic changes identified by HaeIII restriction endonuclease banding in a patient with M2 acute non-lymphoblastic leukemia. 56
Chromosome abnormalities in breast fibroadenomas 55
Cytogenetic survey of sixty-one patients with preleukemic syndrome including myeloproliferative and myelodysplastic diseases. 54
In situ Hpa II endonuclease digestion on fixed chromatin of solid tumor cells. 54
Translocation (8;11)(q12-13;q21) in embryonal rhabdomyosarcoma. 54
Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene 52
Chromosome abnormalities and heterochromatin polymorphism in 127 couples with a history of spontaneous abortions and/or malformed offspring. 52
Chromosome abnormalities in PHA-stimulated and non stimulated bone marrow cultures from patients with non Hodgkin lymphoma. 52
Fetal detection of dup 9p11-12. 50
Cytogenetic survey of 31 patients treated with bone marrow transplantation for acute nonlymphocytic and acute lymphoblastic leukemias. 49
Le misure di rischio nello screening prenatale per i difetti del tubo neurale e la Sindrome di Down 49
Optimal cut-offs for Down syndrome contingent screening in a population of 10,156 pregnant women. 48
Leukemic evolution in three patients with myelodysplastic syndrome and unusual chromosome changes. 45
Cytogenetic survey of 80 patients with acute nonlymphocytic leukemia. 44
Detection of minimal residual disease by polymerase chain reaction in patients with different hematologic diseases treated by bone marrow transplantation. 44
Elevated maternal serum α-fetoprotein level in a fetus with Beckwith-Wiedemann syndrome in a second trimester of pregnancy. 39
Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome 34
Long-term remission in BCR/ABL-positive AML-M6 patient treated with Imatinib Mesylate. 29
Totale 6.372
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Categoria #
all - tutte 20.808
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 20.808
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020903 0 87 8 30 114 95 195 116 37 79 136 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
2024/2025122 112 10 0 0 0 0 0 0 0 0 0 0
Totale 6.372