IRIS
CICCONE, ROBERTO
 Distribuzione geografica
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Continente #
NA - Nord America 4.062
AS - Asia 3.029
EU - Europa 2.449
SA - Sud America 436
AF - Africa 169
Continente sconosciuto - Info sul continente non disponibili 71
OC - Oceania 5
Totale 10.221
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Nazione #
US - Stati Uniti d'America 3.980
CN - Cina 1.526
SG - Singapore 638
IE - Irlanda 559
UA - Ucraina 379
HK - Hong Kong 321
BR - Brasile 318
DE - Germania 314
FI - Finlandia 302
VN - Vietnam 288
RU - Federazione Russa 249
IT - Italia 138
SE - Svezia 137
FR - Francia 132
ZA - Sudafrica 124
GB - Regno Unito 110
IN - India 53
CA - Canada 45
AR - Argentina 43
JP - Giappone 35
BD - Bangladesh 32
EC - Ecuador 23
VE - Venezuela 21
PL - Polonia 19
TR - Turchia 19
BE - Belgio 18
CZ - Repubblica Ceca 16
IQ - Iraq 16
PK - Pakistan 16
MX - Messico 15
NL - Olanda 13
CO - Colombia 12
ES - Italia 12
ID - Indonesia 11
AT - Austria 10
LT - Lituania 9
MA - Marocco 9
CL - Cile 8
PH - Filippine 8
SA - Arabia Saudita 8
CH - Svizzera 7
EG - Egitto 7
UZ - Uzbekistan 7
KE - Kenya 6
OM - Oman 6
PY - Paraguay 6
TN - Tunisia 6
AZ - Azerbaigian 5
CR - Costa Rica 5
ET - Etiopia 5
MY - Malesia 5
AE - Emirati Arabi Uniti 4
GT - Guatemala 4
HN - Honduras 4
KG - Kirghizistan 4
AL - Albania 3
IR - Iran 3
KW - Kuwait 3
KZ - Kazakistan 3
MU - Mauritius 3
NO - Norvegia 3
NZ - Nuova Zelanda 3
PA - Panama 3
PT - Portogallo 3
UY - Uruguay 3
AU - Australia 2
BW - Botswana 2
BY - Bielorussia 2
DZ - Algeria 2
GR - Grecia 2
IL - Israele 2
LB - Libano 2
LV - Lettonia 2
PE - Perù 2
PR - Porto Rico 2
RO - Romania 2
TT - Trinidad e Tobago 2
AM - Armenia 1
BA - Bosnia-Erzegovina 1
BG - Bulgaria 1
BH - Bahrain 1
BN - Brunei Darussalam 1
CM - Camerun 1
DO - Repubblica Dominicana 1
EE - Estonia 1
EU - Europa 1
HR - Croazia 1
HU - Ungheria 1
JM - Giamaica 1
JO - Giordania 1
KH - Cambogia 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
MD - Moldavia 1
MK - Macedonia 1
ML - Mali 1
MN - Mongolia 1
MO - Macao, regione amministrativa speciale della Cina 1
NG - Nigeria 1
NP - Nepal 1
Totale 10.144
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Città #
Chandler 561
Dublin 558
Jacksonville 478
San Jose 374
Nanjing 330
Singapore 319
Hong Kong 316
Ashburn 291
Dallas 271
Beijing 236
Boardman 179
Nanchang 135
Council Bluffs 116
Johannesburg 115
Princeton 111
Hebei 105
Lawrence 105
Ho Chi Minh City 104
Shenyang 103
Wilmington 97
Changsha 91
Lauterbourg 88
Jiaxing 85
Helsinki 84
Medford 82
Ann Arbor 75
Hanoi 74
Los Angeles 67
New York 59
Tianjin 59
Hangzhou 48
Munich 43
Santa Clara 39
Buffalo 38
Shanghai 38
Milan 37
Moscow 36
Redondo Beach 34
Woodbridge 33
São Paulo 31
Tokyo 31
Pavia 28
Orem 26
The Dalles 25
Turku 23
Da Nang 19
Norwalk 19
Brussels 18
Chennai 17
Warsaw 17
Falkenstein 16
Des Moines 15
Fairfield 15
Falls Church 14
Hefei 14
Toronto 14
Frankfurt am Main 13
Montreal 13
Kunming 12
Atlanta 11
Brno 11
Brooklyn 11
Nuremberg 11
Rio de Janeiro 11
San Francisco 11
Haiphong 10
Jinan 10
Stockholm 10
Denver 9
London 9
Phoenix 9
Zhengzhou 9
Amsterdam 8
Brasília 8
Columbus 8
Guayaquil 8
Quito 8
Buenos Aires 7
Caracas 7
Chicago 7
Fuzhou 7
Guangzhou 7
Manchester 7
Mumbai 7
Poplar 7
Seattle 7
Tashkent 7
Boston 6
Campinas 6
Curitiba 6
Hải Dương 6
Vienna 6
Addis Ababa 5
Baku 5
Belém 5
Can Tho 5
Dhaka 5
Fortaleza 5
Istanbul 5
Lahore 5
Totale 6.706
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Nome #
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 169
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 168
5p13 microduplication syndrome: a new case and better clinical definition of the syndrome. 162
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. 159
Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangements? 155
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 150
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 145
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome. 142
Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011. 137
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications. 136
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. 135
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. 134
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome 132
Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke 132
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 128
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion 127
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. 125
The Search for Molecular Markers in a Gene-Orphan Case Study of a Pediatric Spinal Cord Pilocytic Astrocytoma 125
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 124
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. 122
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications 122
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. 118
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. 118
MEF2C deletions and mutations versus duplications: a clinical comparison. 118
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. 117
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease. 117
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. 117
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association 117
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. 115
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease. 114
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. 112
Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease? 110
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. 106
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 104
Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short arm. 102
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 102
Common structural features characterize interstitial intrachromosomal Xp and 18q triplications. 98
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. 97
XX males SRY negative: a confirmed cause of infertility 97
Guidelines for molecular karyotyping in constitutional genetic diagnosis. 96
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion. 96
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 95
Inverted duplications deletions: underdiagnosed rearrangements?? 94
Inverted duplications: how many of them are mosaic? 93
MECP2 duplication phenotype in symptomatic females: report of three cases. 93
Guidelines for molecular karyotyping in constitutional genetic diagnosis. 92
PRKACB and Carney complex 92
Malpuech syndrome: Broadening the clinical spectrum and molecular analysis by array-CGH. 91
Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype. 91
Reciprocal translocations: a trap for cytogenetists? 91
The phenotype of recurrent 10q22q23 deletions and duplications. 90
Inverted duplications deletions: underdiagnosed rearrangements?? 90
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype 90
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly. 89
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2. 88
Reciprocal translocations: a trap for cytogenetists? 88
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe specch impairment. 87
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene 87
Disruption of the ASTN2/tTRIM32 locus at 9p33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. 87
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. 85
Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature. 85
MECP2 duplication phenotype in symptomatic females: Report of three further cases 84
PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia 83
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. 82
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. 82
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts 82
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. 81
Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation. 81
Evolutionary and clinical neocentromeres: two faces of the same coin? 80
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis. 79
Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant. 79
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. 79
Medullary sponge kidney associated with primary distal renal tubuler acidosis and mutations of the H+-ATPase genes. 79
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. 78
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. 78
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. 78
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes. Clues to the mechanisms of formation. 78
Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH 77
Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: a comparison with previously described cases. 77
Evolutionary and clinical neocentromeres: two faces of the same coin? 77
Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH. 76
Inverted duplications: how many of them are mosaic? 75
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. 75
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. 74
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. 73
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects. 73
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. 72
Breakpoint determination of 15 large deletions in Peuts-Jeghers subjects. 72
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. 71
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis. 70
Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant. 70
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. 70
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis 70
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene 69
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. 68
Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: A comparison with previously described cases. 68
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. 68
Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood. 67
Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease? 66
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome. 65
Totale 9.824
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Categoria #
all - tutte 42.306
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 42.306
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022446 0 3 6 8 13 28 13 24 32 11 67 241
2022/20231.599 185 122 11 160 161 144 1 80 659 20 35 21
2023/2024475 63 95 13 50 46 112 1 25 6 11 9 44
2024/20251.343 15 120 39 30 14 65 35 126 337 42 174 346
2025/20263.356 242 306 422 373 340 169 639 186 259 268 74 78
2026/2027201 65 136 0 0 0 0 0 0 0 0 0 0
Totale 10.221