IRIS
GUANCIALI FRANCHI, Paolo Emilio
 Distribuzione geografica
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Continente #
EU - Europa 2.697
NA - Nord America 2.472
AS - Asia 1.554
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 2
AF - Africa 1
SA - Sud America 1
Totale 6.730
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Nazione #
US - Stati Uniti d'America 2.461
CN - Cina 606
UA - Ucraina 505
IT - Italia 394
IE - Irlanda 377
SE - Svezia 323
SG - Singapore 313
GB - Regno Unito 312
TR - Turchia 288
DE - Germania 270
IN - India 260
FR - Francia 253
FI - Finlandia 102
RU - Federazione Russa 81
VN - Vietnam 73
AT - Austria 32
BE - Belgio 16
CA - Canada 11
CZ - Repubblica Ceca 11
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 6.730
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Città #
Jacksonville 533
Chandler 432
Dublin 375
Singapore 274
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
Santa Clara 57
Grafing 55
Hebei 36
Tianjin 35
Shenyang 33
Vienna 32
Kunming 31
Woodbridge 25
Los Angeles 24
Munich 23
Düsseldorf 21
Washington 21
Helsinki 18
Hangzhou 17
Jinan 16
Grevenbroich 15
Jiaxing 15
Brussels 14
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
Toronto 7
Kocaeli 6
Bucharest 5
Hefei 5
Milan 5
Moscow 5
Teramo 5
Alingsås 3
Atessa 3
Bari 3
Bologna 3
Campobasso 3
Collecorvino 3
Espoo 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
Romola 2
Roseto Degli Abruzzi 2
Sainte-maxime 2
San Mango 2
San Vito Chietino 2
Waanrode 2
Walnut 2
Totale 4.138
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Nome #
16p13.3 microduplication syndrome: A new characteristic case without intellectual disability 147
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 133
A new case of Yq microdeletion transmitted from a normal father to two infertile sons. 125
Discovering a familial Xp11.4 microduplication: Does the mother matter? 116
Hsa-miR-155-5p drives aneuploidy at early stages of cellular transformation 116
An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations 113
A new case of partial 2p trisomy due to de novo interstitial duplication 2p21-22. 109
Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis 105
Lack of correlation between elevated maternal serum hCG during second-trimester biochemical screening and fetal congenital anomaly. 104
Clustering of Y chromosome deletions in subinterval E of interval 6 supports the existence of an oligozoospermia critical region outside the DAZ gene 99
A cytogenetic survey of 13 patients with acute lymphocytic leukemia (ALL). 97
A new case of pure partial 7q duplication 96
Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment. 95
A woman with an apparent non mosaic 45,X , delivered a 45,X,der(X) liveborne female 94
Routine fluorescence in situ hybridization analysis for detection of BCR-ABL rearrangement in myeloproliferative disorders 93
A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man. 92
Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis. 91
Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome. 91
A newborne with ring chromosome 10, aganglionic megacolon, and renal hypoplasia. 90
SHOX mutations detected by FISH and direct sequencing in patients with short stature 89
Case report of newborn with de novo partial trisomy 2q31.2–37.3 and monosomy 9p24.3 88
I nuovi orizzonti della diagnosi prenatale 87
Cystic hygroma and mid-trimester maternal serum screening. 86
Allogeneic bone marrow transplantation for Fanconi anemia. 86
Trisomy 18 fetuses with cystic hygroma linked to positive maternal serum Down's syndrome Triple test screening result. 84
A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11 84
AluI and HaeIII restriction enzyme banding patterns of Macaca fuscata and Cercopithecus aethiops sabaeus chromosomes. 83
Hnrnpl restrains MIR-155 targeting of BUB1 to stabilize aberrant karyotypes of transformed cells in chronic lymphocytic leukemia 83
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 82
[Cytogenetic study of 201 subjects with altered reproductive fitness]. 81
A case of triploidy detected by crosstrimester test. 79
INOSITIDE-SPECIFIC PHOSPHOLIPASE Cbeta1 GENE DELETION IN THE PROGRESSION OF MYELODYSPLASTIC SYNDROME TO ACUTE MYELOID LEUKEMIA 77
Principi dello screening per la Sindrome di Down con markers multipli 77
The methylenetethrahydrofolate reductase (MTHFR) C677T polymorphism and male infertility in Italy. 76
Prenatal diagnosis using the triple test 76
Complex translocation of the Ph chromosome and Ph negative in CML arise from similar mechanisms as evidenced by FISH analysis 76
Molecular studies in three patients with isodicentric Y chromosome 76
Fetal facial profile in Pallister-Killian syndrome. 76
A new case of chronic myelogenous leukemia with 14q+ marker and review of the literature. 74
Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis. 73
Duplication Xp22.2 and pseudoisodicentricYq detected by FISH and PCR in a sterile male 73
[Cytogenetic study of 140 patients with changes in sexual features]. 73
P53 loss and point mutation are associated with suppression of apoptosis and progression of CML into myeloid blastic crisis 72
Chromosome changes in 19 patients with Waldenström's macroglobulinemia. 72
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 72
Screening biochimici prenatali: l’esperienza del tri-test in 17.869 gravidanze della regione Abruzzo. 71
FISH analysis in detecting 9p duplication (p22p24) 71
Non-invasive prenatal screening: a 20-year experience in Italy 71
Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy. 71
Molecular characterization of two extra marker chromosomes detected at prenatal diagnosis 70
Fetal facial profile in Pallister-Killian syndrome 70
Epigenetics and human reproduction: the primary prevention of the noncommunicable diseases. 70
Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant women 68
On chromosomal DNA modifications by chemical and physical treatment of C-bands. 68
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). 67
Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation 67
Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. 67
Philadelphia (Ph), 14q+ and 1q+ chromosomes in immunoblastic phase (Richter's syndrome) in a patient with T chronic lymphocytic leukaemia. 66
Prognostic value of atypical chromosomal changes during chronic myeloid leukemia. 66
A Mosaic Ring Chromosome 21 in a Patient with Mild Intellectual Disability not Evidenced by Array-Cgh 65
Effectiveness of crosstrimester test in selecting high-risk pregnant women to undergo invasive prenatal diagnosis 64
Effect of HpaII and MspI restriction endonucleases on chronic myelogenous leukemia chromosomes. Detection of CpG dinucleotide demethylation in situ. 64
Karyotype refinement by multicolor fluorescence in situ hybridization analysis in 18 patients with acute lymphoblastic leukemia. 63
De novo complex chromosome rearrangement detected by fluorescence in situ hybridization on amniotic fluid cells 63
FISH detection of mixed chimerism in 33 patients submitted to bone marrow transplantation 63
Cytogenetic study of the heterochromatic polymorphisms in 100 subjects with Down syndrome and their parents. 63
Biochemical and molecular characterization of von Willebrand disease type 2N in a pregnant patient who gave birth under analgesia with remifentanil. 62
Cytogenetics and acute non lymphocytic leukemia. 62
Heterochromatic polymorphisms of chromosome 16 evidenced by Alu I endonuclease digestion in chronic myelogenous leukemia. 62
Chromosome 11 rearrangements and specific MLL amplification revealed by spectral karyotyping in a patient with refractory anaemia with excess of blasts(RAEB)”. 61
Bone marrow transplantation for thalassemia in Pescara. 60
Hinf I restriction endonuclease digestion on human fixed metaphase chromosomes. 60
Cytogenetics in patients with chronic myelogenous leukemia treated with bone marrow transplantation. 59
Karyotypic changes identified by HaeIII restriction endonuclease banding in a patient with M2 acute non-lymphoblastic leukemia. 59
Cytogenetic survey of sixty-one patients with preleukemic syndrome including myeloproliferative and myelodysplastic diseases. 58
Translocation (8;11)(q12-13;q21) in embryonal rhabdomyosarcoma. 57
Retrospective investigation of hematopoietic chimerism after BMT by PCR amplification hypervariable DNA regions 56
In situ Hpa II endonuclease digestion on fixed chromatin of solid tumor cells. 56
Chromosome abnormalities in breast fibroadenomas 56
Chromosome abnormalities and heterochromatin polymorphism in 127 couples with a history of spontaneous abortions and/or malformed offspring. 55
Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene 54
Chromosome abnormalities in PHA-stimulated and non stimulated bone marrow cultures from patients with non Hodgkin lymphoma. 53
Fetal detection of dup 9p11-12. 53
Le misure di rischio nello screening prenatale per i difetti del tubo neurale e la Sindrome di Down 52
Optimal cut-offs for Down syndrome contingent screening in a population of 10,156 pregnant women. 51
Cytogenetic survey of 31 patients treated with bone marrow transplantation for acute nonlymphocytic and acute lymphoblastic leukemias. 50
Leukemic evolution in three patients with myelodysplastic syndrome and unusual chromosome changes. 48
Detection of minimal residual disease by polymerase chain reaction in patients with different hematologic diseases treated by bone marrow transplantation. 47
Cytogenetic survey of 80 patients with acute nonlymphocytic leukemia. 46
Elevated maternal serum α-fetoprotein level in a fetus with Beckwith-Wiedemann syndrome in a second trimester of pregnancy. 43
Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome 36
Long-term remission in BCR/ABL-positive AML-M6 patient treated with Imatinib Mesylate. 33
A duane patient with ins(6;8) (q25;q11.2q12): a putative location of a duane locus to band 8q12 1
Molecular study of AZF locus by STS-PCR in 126 patients with idiopathic infertility 1
Totale 6.860
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Categoria #
all - tutte 24.019
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 24.019
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020778 0 0 0 0 114 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
2024/2025610 112 254 201 37 6 0 0 0 0 0 0 0
Totale 6.860