IRIS
GUANCIALI FRANCHI, Paolo Emilio
 Distribuzione geografica
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Continente #
EU - Europa 2.730
NA - Nord America 2.598
AS - Asia 1.794
SA - Sud America 57
AF - Africa 4
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 2
Totale 7.188
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Nazione #
US - Stati Uniti d'America 2.587
CN - Cina 608
SG - Singapore 539
UA - Ucraina 505
IT - Italia 399
IE - Irlanda 377
SE - Svezia 325
GB - Regno Unito 312
TR - Turchia 290
DE - Germania 279
IN - India 261
FR - Francia 257
FI - Finlandia 104
RU - Federazione Russa 84
VN - Vietnam 73
BR - Brasile 51
AT - Austria 34
BE - Belgio 16
CZ - Repubblica Ceca 12
CA - Canada 11
RO - Romania 9
GR - Grecia 6
IL - Israele 6
NL - Olanda 6
UZ - Uzbekistan 4
EU - Europa 3
MY - Malesia 3
AU - Australia 2
EC - Ecuador 2
IR - Iran 2
NO - Norvegia 2
VE - Venezuela 2
AR - Argentina 1
BN - Brunei Darussalam 1
EG - Egitto 1
ES - Italia 1
GE - Georgia 1
GY - Guiana 1
IQ - Iraq 1
JP - Giappone 1
KR - Corea 1
KZ - Kazakistan 1
LK - Sri Lanka 1
LT - Lituania 1
RS - Serbia 1
SC - Seychelles 1
SN - Senegal 1
TW - Taiwan 1
ZA - Sudafrica 1
Totale 7.188
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Città #
Jacksonville 533
Chandler 432
Dublin 375
Singapore 320
Southend 267
Princeton 191
Izmir 165
Nanjing 159
Dearborn 128
Ashburn 115
Beijing 115
The Dalles 104
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 36
Vienna 34
Shenyang 33
Kunming 31
Los Angeles 28
Munich 25
Woodbridge 25
Düsseldorf 21
Washington 21
Helsinki 20
Hangzhou 17
Jinan 16
Grevenbroich 15
Jiaxing 15
Brussels 14
Norwalk 13
Rome 13
Augusta 12
Pescara 12
Brno 11
Guangzhou 11
Ningbo 11
San Mateo 11
Zhengzhou 10
Auburn Hills 8
Bangalore 8
Changsha 8
New York 8
Changchun 7
Lanzhou 7
Leawood 7
Orange 7
Toronto 7
Kocaeli 6
Bucharest 5
Hefei 5
Milan 5
Moscow 5
Teramo 5
San Francisco 4
Tashkent 4
Alingsås 3
Atessa 3
Bari 3
Bologna 3
Campinas 3
Campobasso 3
Collecorvino 3
Espoo 3
Kuala Lumpur 3
Montesilvano Marina 3
Mumbai 3
Notaresco 3
Pavia 3
Redwood City 3
Rio de Janeiro 3
Seattle 3
Stockholm 3
Tortoreto 3
Vasto 3
Abu Sinan 2
Andover 2
Belo Horizonte 2
Cagliari 2
Caserta 2
Clifton 2
Contagem 2
Edinburgh 2
Fano 2
Frankfurt am Main 2
Fuzhou 2
Haikou 2
Hanoi 2
Harbin 2
Isernia 2
L’Aquila 2
Melendugno 2
Totale 4.307
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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 138
A new case of Yq microdeletion transmitted from a normal father to two infertile sons. 133
Hsa-miR-155-5p drives aneuploidy at early stages of cellular transformation 124
Discovering a familial Xp11.4 microduplication: Does the mother matter? 123
An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations 123
A new case of partial 2p trisomy due to de novo interstitial duplication 2p21-22. 116
Lack of correlation between elevated maternal serum hCG during second-trimester biochemical screening and fetal congenital anomaly. 109
Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis 108
A new case of pure partial 7q duplication 106
A cytogenetic survey of 13 patients with acute lymphocytic leukemia (ALL). 105
Clustering of Y chromosome deletions in subinterval E of interval 6 supports the existence of an oligozoospermia critical region outside the DAZ gene 103
A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man. 103
A woman with an apparent non mosaic 45,X , delivered a 45,X,der(X) liveborne female 102
Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment. 102
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 96
Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome. 95
Case report of newborn with de novo partial trisomy 2q31.2–37.3 and monosomy 9p24.3 94
A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11 93
Allogeneic bone marrow transplantation for Fanconi anemia. 93
Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis. 92
I nuovi orizzonti della diagnosi prenatale 92
SHOX mutations detected by FISH and direct sequencing in patients with short stature 91
Cystic hygroma and mid-trimester maternal serum screening. 90
Hnrnpl restrains MIR-155 targeting of BUB1 to stabilize aberrant karyotypes of transformed cells in chronic lymphocytic leukemia 90
AluI and HaeIII restriction enzyme banding patterns of Macaca fuscata and Cercopithecus aethiops sabaeus chromosomes. 87
[Cytogenetic study of 201 subjects with altered reproductive fitness]. 87
Trisomy 18 fetuses with cystic hygroma linked to positive maternal serum Down's syndrome Triple test screening result. 86
A case of triploidy detected by crosstrimester test. 86
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 83
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). 82
A new case of chronic myelogenous leukemia with 14q+ marker and review of the literature. 80
Principi dello screening per la Sindrome di Down con markers multipli 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
Prenatal diagnosis using the triple test 79
Fetal facial profile in Pallister-Killian syndrome. 79
INOSITIDE-SPECIFIC PHOSPHOLIPASE Cbeta1 GENE DELETION IN THE PROGRESSION OF MYELODYSPLASTIC SYNDROME TO ACUTE MYELOID LEUKEMIA 78
The methylenetethrahydrofolate reductase (MTHFR) C677T polymorphism and male infertility in Italy. 78
Molecular studies in three patients with isodicentric Y chromosome 78
Complex translocation of the Ph chromosome and Ph negative in CML arise from similar mechanisms as evidenced by FISH analysis 77
[Cytogenetic study of 140 patients with changes in sexual features]. 77
Chromosome changes in 19 patients with Waldenström's macroglobulinemia. 77
A Mosaic Ring Chromosome 21 in a Patient with Mild Intellectual Disability not Evidenced by Array-Cgh 77
Non-invasive prenatal screening: a 20-year experience in Italy 77
Epigenetics and human reproduction: the primary prevention of the noncommunicable diseases. 76
Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis. 75
Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy. 75
Duplication Xp22.2 and pseudoisodicentricYq detected by FISH and PCR in a sterile male 74
Philadelphia (Ph), 14q+ and 1q+ chromosomes in immunoblastic phase (Richter's syndrome) in a patient with T chronic lymphocytic leukaemia. 74
Fetal facial profile in Pallister-Killian syndrome 74
FISH analysis in detecting 9p duplication (p22p24) 73
Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant women 73
P53 loss and point mutation are associated with suppression of apoptosis and progression of CML into myeloid blastic crisis 73
Screening biochimici prenatali: l’esperienza del tri-test in 17.869 gravidanze della regione Abruzzo. 72
Molecular characterization of two extra marker chromosomes detected at prenatal diagnosis 72
On chromosomal DNA modifications by chemical and physical treatment of C-bands. 72
Prognostic value of atypical chromosomal changes during chronic myeloid leukemia. 72
Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation 72
Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. 71
Effectiveness of crosstrimester test in selecting high-risk pregnant women to undergo invasive prenatal diagnosis 68
Biochemical and molecular characterization of von Willebrand disease type 2N in a pregnant patient who gave birth under analgesia with remifentanil. 68
Effect of HpaII and MspI restriction endonucleases on chronic myelogenous leukemia chromosomes. Detection of CpG dinucleotide demethylation in situ. 68
Cytogenetic study of the heterochromatic polymorphisms in 100 subjects with Down syndrome and their parents. 68
Karyotype refinement by multicolor fluorescence in situ hybridization analysis in 18 patients with acute lymphoblastic leukemia. 67
Heterochromatic polymorphisms of chromosome 16 evidenced by Alu I endonuclease digestion in chronic myelogenous leukemia. 67
Chromosome 11 rearrangements and specific MLL amplification revealed by spectral karyotyping in a patient with refractory anaemia with excess of blasts(RAEB)”. 65
Cytogenetics and acute non lymphocytic leukemia. 65
De novo complex chromosome rearrangement detected by fluorescence in situ hybridization on amniotic fluid cells 64
FISH detection of mixed chimerism in 33 patients submitted to bone marrow transplantation 64
Cytogenetics in patients with chronic myelogenous leukemia treated with bone marrow transplantation. 64
Hinf I restriction endonuclease digestion on human fixed metaphase chromosomes. 64
Karyotypic changes identified by HaeIII restriction endonuclease banding in a patient with M2 acute non-lymphoblastic leukemia. 63
Bone marrow transplantation for thalassemia in Pescara. 62
In situ Hpa II endonuclease digestion on fixed chromatin of solid tumor cells. 62
Chromosome abnormalities in breast fibroadenomas 62
Cytogenetic survey of sixty-one patients with preleukemic syndrome including myeloproliferative and myelodysplastic diseases. 61
Translocation (8;11)(q12-13;q21) in embryonal rhabdomyosarcoma. 61
Optimal cut-offs for Down syndrome contingent screening in a population of 10,156 pregnant women. 61
Chromosome abnormalities and heterochromatin polymorphism in 127 couples with a history of spontaneous abortions and/or malformed offspring. 58
Chromosome abnormalities in PHA-stimulated and non stimulated bone marrow cultures from patients with non Hodgkin lymphoma. 58
Fetal detection of dup 9p11-12. 58
Retrospective investigation of hematopoietic chimerism after BMT by PCR amplification hypervariable DNA regions 57
Le misure di rischio nello screening prenatale per i difetti del tubo neurale e la Sindrome di Down 57
Cytogenetic survey of 31 patients treated with bone marrow transplantation for acute nonlymphocytic and acute lymphoblastic leukemias. 56
Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene 55
Leukemic evolution in three patients with myelodysplastic syndrome and unusual chromosome changes. 54
Detection of minimal residual disease by polymerase chain reaction in patients with different hematologic diseases treated by bone marrow transplantation. 51
Cytogenetic survey of 80 patients with acute nonlymphocytic leukemia. 50
Elevated maternal serum α-fetoprotein level in a fetus with Beckwith-Wiedemann syndrome in a second trimester of pregnancy. 44
Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome 43
Long-term remission in BCR/ABL-positive AML-M6 patient treated with Imatinib Mesylate. 36
A duane patient with ins(6;8) (q25;q11.2q12): a putative location of a duane locus to band 8q12 10
Molecular study of AZF locus by STS-PCR in 126 patients with idiopathic infertility 3
Totale 7.318
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Categoria #
all - tutte 28.867
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 28.867
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020142 0 0 0 0 0 0 0 0 0 0 136 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
2024/20251.068 112 254 201 37 32 20 28 37 205 82 60 0
Totale 7.318