IRIS
CICCONE, ROBERTO
 Distribuzione geografica
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Continente #
NA - Nord America 3.880
AS - Asia 3.017
EU - Europa 2.431
SA - Sud America 429
AF - Africa 169
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 2
Totale 9.933
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Nazione #
US - Stati Uniti d'America 3.804
CN - Cina 1.520
SG - Singapore 635
IE - Irlanda 559
UA - Ucraina 379
HK - Hong Kong 321
DE - Germania 314
BR - Brasile 312
FI - Finlandia 302
VN - Vietnam 287
RU - Federazione Russa 249
SE - Svezia 137
FR - Francia 127
IT - Italia 127
ZA - Sudafrica 124
GB - Regno Unito 110
IN - India 53
AR - Argentina 43
CA - Canada 43
JP - Giappone 34
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
AT - Austria 10
ID - Indonesia 10
LT - Lituania 9
MA - Marocco 9
PH - Filippine 8
SA - Arabia Saudita 8
CH - Svizzera 7
CL - Cile 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
KG - Kirghizistan 4
AL - Albania 3
HN - Honduras 3
IR - Iran 3
KW - Kuwait 3
KZ - Kazakistan 3
MU - Mauritius 3
NO - Norvegia 3
NZ - Nuova Zelanda 3
PA - Panama 3
UY - Uruguay 3
AU - Australia 2
BW - Botswana 2
BY - Bielorussia 2
DZ - Algeria 2
GR - Grecia 2
GT - Guatemala 2
IL - Israele 2
LB - Libano 2
LV - Lettonia 2
PE - Perù 2
PT - Portogallo 2
RO - Romania 2
TT - Trinidad e Tobago 2
AM - Armenia 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
PR - Porto Rico 1
PS - Palestinian Territory 1
Totale 9.926
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Città #
Chandler 561
Dublin 558
Jacksonville 478
San Jose 372
Nanjing 330
Singapore 318
Hong Kong 316
Ashburn 276
Dallas 270
Beijing 234
Boardman 179
Nanchang 135
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 73
Los Angeles 67
Tianjin 59
New York 58
Hangzhou 48
Munich 43
Buffalo 38
Milan 37
Shanghai 37
Moscow 36
Redondo Beach 34
Woodbridge 33
Council Bluffs 31
São Paulo 31
Tokyo 31
Pavia 28
Orem 26
The Dalles 25
Santa Clara 24
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
Fuzhou 7
Guangzhou 7
Manchester 7
Mumbai 7
Poplar 7
Seattle 7
Tashkent 7
Boston 6
Campinas 6
Chicago 6
Curitiba 6
Hải Dương 6
Vienna 6
Addis Ababa 5
Baku 5
Can Tho 5
Dhaka 5
Fortaleza 5
Istanbul 5
Lahore 5
Muscat 5
Totale 6.581
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Nome #
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 166
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 162
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. 157
5p13 microduplication syndrome: a new case and better clinical definition of the syndrome. 157
Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangements? 153
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 149
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome. 142
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 142
Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011. 135
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. 133
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. 133
Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke 132
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome 131
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications. 129
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion 127
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 125
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. 123
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 122
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. 121
The Search for Molecular Markers in a Gene-Orphan Case Study of a Pediatric Spinal Cord Pilocytic Astrocytoma 121
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications 120
MEF2C deletions and mutations versus duplications: a clinical comparison. 117
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. 116
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease. 116
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. 116
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. 115
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. 115
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association 115
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease. 114
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. 114
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. 109
Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease? 108
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. 105
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 103
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 101
Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short arm. 100
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. 96
Common structural features characterize interstitial intrachromosomal Xp and 18q triplications. 95
Guidelines for molecular karyotyping in constitutional genetic diagnosis. 94
XX males SRY negative: a confirmed cause of infertility 94
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion. 94
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 94
Inverted duplications deletions: underdiagnosed rearrangements?? 93
Inverted duplications: how many of them are mosaic? 92
Malpuech syndrome: Broadening the clinical spectrum and molecular analysis by array-CGH. 91
PRKACB and Carney complex 91
Inverted duplications deletions: underdiagnosed rearrangements?? 90
MECP2 duplication phenotype in symptomatic females: report of three cases. 90
Reciprocal translocations: a trap for cytogenetists? 89
Guidelines for molecular karyotyping in constitutional genetic diagnosis. 88
The phenotype of recurrent 10q22q23 deletions and duplications. 88
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly. 87
Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype. 87
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2. 87
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype 87
Reciprocal translocations: a trap for cytogenetists? 86
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe specch impairment. 85
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. 84
Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature. 84
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene 84
MECP2 duplication phenotype in symptomatic females: Report of three further cases 84
Disruption of the ASTN2/tTRIM32 locus at 9p33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. 81
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. 80
Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation. 80
Evolutionary and clinical neocentromeres: two faces of the same coin? 80
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts 80
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. 79
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis. 78
Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant. 78
PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia 78
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. 77
Medullary sponge kidney associated with primary distal renal tubuler acidosis and mutations of the H+-ATPase genes. 77
Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH 76
Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: a comparison with previously described cases. 76
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. 75
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. 75
Evolutionary and clinical neocentromeres: two faces of the same coin? 75
Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH. 74
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. 73
Inverted duplications: how many of them are mosaic? 73
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. 73
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. 73
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes. Clues to the mechanisms of formation. 73
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. 71
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects. 71
Breakpoint determination of 15 large deletions in Peuts-Jeghers subjects. 71
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. 70
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. 70
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. 70
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis 69
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis. 68
Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant. 68
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. 67
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. 66
Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: A comparison with previously described cases. 66
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. 66
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene 66
Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood. 65
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts 65
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome. 64
Totale 9.615
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Categoria #
all - tutte 40.396
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 40.396
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202117 0 0 0 0 0 0 0 0 0 0 0 17
2021/2022451 5 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
2025/20263.338 242 306 422 373 340 169 639 186 259 268 74 60
Totale 10.002