IRIS
CICCONE, ROBERTO
 Distribuzione geografica
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Continente #
NA - Nord America 4.592
AS - Asia 3.038
EU - Europa 2.511
SA - Sud America 442
AF - Africa 170
Continente sconosciuto - Info sul continente non disponibili 71
OC - Oceania 5
Totale 10.829
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Nazione #
US - Stati Uniti d'America 4.482
CN - Cina 1.526
SG - Singapore 642
IE - Irlanda 559
UA - Ucraina 379
HK - Hong Kong 322
BR - Brasile 321
DE - Germania 314
FI - Finlandia 302
VN - Vietnam 290
RU - Federazione Russa 249
IT - Italia 186
SE - Svezia 137
FR - Francia 134
ZA - Sudafrica 124
GB - Regno Unito 119
CA - Canada 54
IN - India 53
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
MX - Messico 16
PK - Pakistan 16
CO - Colombia 14
NL - Olanda 13
ES - Italia 12
ID - Indonesia 11
AT - Austria 10
CL - Cile 9
LT - Lituania 9
MA - Marocco 9
PH - Filippine 9
SA - Arabia Saudita 8
CH - Svizzera 7
CR - Costa Rica 7
EG - Egitto 7
JM - Giamaica 7
UZ - Uzbekistan 7
GT - Guatemala 6
KE - Kenya 6
OM - Oman 6
PY - Paraguay 6
TN - Tunisia 6
AZ - Azerbaigian 5
ET - Etiopia 5
MY - Malesia 5
AE - Emirati Arabi Uniti 4
HN - Honduras 4
KG - Kirghizistan 4
PR - Porto Rico 4
AL - Albania 3
EE - Estonia 3
IR - Iran 3
KW - Kuwait 3
KZ - Kazakistan 3
MU - Mauritius 3
NI - Nicaragua 3
NO - Norvegia 3
NZ - Nuova Zelanda 3
PA - Panama 3
PT - Portogallo 3
TT - Trinidad e Tobago 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
PS - Palestinian Territory 2
RO - Romania 2
AM - Armenia 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BG - Bulgaria 1
BH - Bahrain 1
BN - Brunei Darussalam 1
CM - Camerun 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
EU - Europa 1
HR - Croazia 1
HU - Ungheria 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
Totale 10.747
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Città #
Chandler 562
Dublin 558
Jacksonville 479
San Jose 415
Nanjing 330
Singapore 323
Hong Kong 317
Ashburn 302
Dallas 271
Council Bluffs 238
Beijing 236
Boardman 179
Nanchang 135
Princeton 118
Johannesburg 115
Ho Chi Minh City 106
Hebei 105
Lawrence 105
Shenyang 103
Wilmington 98
Changsha 91
Lauterbourg 88
Jiaxing 85
Helsinki 84
Medford 82
Ann Arbor 75
Hanoi 74
Los Angeles 71
New York 61
Tianjin 59
Hangzhou 48
Santa Clara 47
Munich 43
Milan 40
Buffalo 39
Shanghai 38
Moscow 36
Redondo Beach 34
Woodbridge 33
São Paulo 31
Tokyo 31
Pavia 28
Orem 26
The Dalles 25
Turku 23
Norwalk 22
Da Nang 19
Brussels 18
Chennai 17
Warsaw 17
Falkenstein 16
Toronto 16
Des Moines 15
Fairfield 15
Atlanta 14
Falls Church 14
Hefei 14
Montreal 14
Brooklyn 13
Frankfurt am Main 13
San Francisco 13
Denver 12
Kunming 12
Brno 11
London 11
Nuremberg 11
Rio de Janeiro 11
Haiphong 10
Jinan 10
Rome 10
Seattle 10
Stockholm 10
Brasília 9
Chicago 9
Phoenix 9
Zhengzhou 9
Amsterdam 8
Columbus 8
Guayaquil 8
Manchester 8
Quito 8
Boston 7
Buenos Aires 7
Caracas 7
Fuzhou 7
Guangzhou 7
Mumbai 7
Poplar 7
Queens 7
Tashkent 7
Campinas 6
Curitiba 6
Guatemala City 6
Hải Dương 6
Santiago 6
Verona 6
Vienna 6
Addis Ababa 5
Baku 5
Belém 5
Totale 6.951
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Nome #
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 175
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 174
5p13 microduplication syndrome: a new case and better clinical definition of the syndrome. 170
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. 163
Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangements? 160
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 159
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 157
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome. 148
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome 143
Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011. 142
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications. 141
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. 139
Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke 139
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion 138
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. 137
The Search for Molecular Markers in a Gene-Orphan Case Study of a Pediatric Spinal Cord Pilocytic Astrocytoma 133
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 132
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 130
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. 129
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. 127
MEF2C deletions and mutations versus duplications: a clinical comparison. 127
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications 125
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. 123
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. 123
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. 122
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. 121
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association 121
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. 120
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease. 119
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. 119
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease. 118
Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease? 116
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. 116
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 106
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 106
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 106
Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short arm. 105
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion. 103
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype 103
Guidelines for molecular karyotyping in constitutional genetic diagnosis. 102
Inverted duplications: how many of them are mosaic? 102
Common structural features characterize interstitial intrachromosomal Xp and 18q triplications. 102
XX males SRY negative: a confirmed cause of infertility 101
Inverted duplications deletions: underdiagnosed rearrangements?? 100
PRKACB and Carney complex 100
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. 99
Guidelines for molecular karyotyping in constitutional genetic diagnosis. 98
The phenotype of recurrent 10q22q23 deletions and duplications. 98
Disruption of the ASTN2/tTRIM32 locus at 9p33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. 98
Reciprocal translocations: a trap for cytogenetists? 98
Malpuech syndrome: Broadening the clinical spectrum and molecular analysis by array-CGH. 97
Inverted duplications deletions: underdiagnosed rearrangements?? 97
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly. 96
MECP2 duplication phenotype in symptomatic females: report of three cases. 96
Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype. 95
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2. 93
Reciprocal translocations: a trap for cytogenetists? 93
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene 93
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe specch impairment. 91
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. 90
Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation. 90
Evolutionary and clinical neocentromeres: two faces of the same coin? 90
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts 90
PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia 90
Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature. 89
Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant. 89
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. 89
MECP2 duplication phenotype in symptomatic females: Report of three further cases 87
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. 86
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. 86
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. 85
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes. Clues to the mechanisms of formation. 85
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis. 84
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. 84
Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH. 84
Medullary sponge kidney associated with primary distal renal tubuler acidosis and mutations of the H+-ATPase genes. 84
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. 83
Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: a comparison with previously described cases. 82
Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH 81
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. 81
Evolutionary and clinical neocentromeres: two faces of the same coin? 81
Inverted duplications: how many of them are mosaic? 80
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. 78
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. 78
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. 78
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects. 78
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis. 75
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. 75
Breakpoint determination of 15 large deletions in Peuts-Jeghers subjects. 75
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis 75
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene 75
Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant. 74
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. 74
Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: A comparison with previously described cases. 73
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. 73
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. 72
Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease? 72
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. 71
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts 71
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome. 70
Totale 10.391
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Categoria #
all - tutte 45.213
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 45.213
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022437 0 0 0 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
2026/2027809 65 193 221 330 0 0 0 0 0 0 0 0
Totale 10.829