IRIS
CICCONE, ROBERTO
 Distribuzione geografica
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Continente #
NA - Nord America 3.178
AS - Asia 2.335
EU - Europa 2.247
SA - Sud America 315
AF - Africa 29
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 1
Totale 8.110
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Nazione #
US - Stati Uniti d'America 3.133
CN - Cina 1.456
IE - Irlanda 555
SG - Singapore 397
UA - Ucraina 377
DE - Germania 303
FI - Finlandia 302
HK - Hong Kong 281
BR - Brasile 262
RU - Federazione Russa 242
SE - Svezia 133
IT - Italia 108
VN - Vietnam 105
GB - Regno Unito 98
CA - Canada 31
FR - Francia 27
JP - Giappone 21
AR - Argentina 20
BE - Belgio 17
CZ - Repubblica Ceca 16
IN - India 15
PL - Polonia 15
EC - Ecuador 14
ZA - Sudafrica 12
BD - Bangladesh 10
ES - Italia 10
MX - Messico 10
TR - Turchia 10
AT - Austria 9
LT - Lituania 8
CH - Svizzera 7
ID - Indonesia 7
VE - Venezuela 7
CO - Colombia 6
MA - Marocco 6
IQ - Iraq 5
NL - Olanda 5
UZ - Uzbekistan 5
KG - Kirghizistan 4
MU - Mauritius 3
NO - Norvegia 3
NZ - Nuova Zelanda 3
PY - Paraguay 3
SA - Arabia Saudita 3
TN - Tunisia 3
AL - Albania 2
AU - Australia 2
AZ - Azerbaigian 2
BY - Bielorussia 2
CL - Cile 2
EG - Egitto 2
ET - Etiopia 2
IR - Iran 2
LV - Lettonia 2
PK - Pakistan 2
TT - Trinidad e Tobago 2
AE - Emirati Arabi Uniti 1
BG - Bulgaria 1
BW - Botswana 1
CR - Costa Rica 1
EE - Estonia 1
EU - Europa 1
GT - Guatemala 1
HR - Croazia 1
JO - Giordania 1
KW - Kuwait 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
OM - Oman 1
PT - Portogallo 1
RO - Romania 1
SK - Slovacchia (Repubblica Slovacca) 1
TJ - Tagikistan 1
TL - Timor Orientale 1
TM - Turkmenistan 1
UY - Uruguay 1
Totale 8.110
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Città #
Chandler 561
Dublin 554
Jacksonville 478
Nanjing 330
Hong Kong 279
Dallas 266
Beijing 227
Ashburn 188
Boardman 178
Nanchang 135
Princeton 111
Singapore 110
Hebei 105
Lawrence 105
Shenyang 103
Wilmington 97
Changsha 91
Jiaxing 85
Helsinki 84
Medford 82
Ann Arbor 75
Tianjin 59
Los Angeles 53
Hangzhou 48
New York 45
Munich 43
Ho Chi Minh City 40
Buffalo 37
Shanghai 36
Moscow 35
Redondo Beach 34
Woodbridge 33
Milan 32
São Paulo 27
Pavia 26
Hanoi 25
The Dalles 25
Turku 23
Norwalk 19
Tokyo 19
Brussels 17
Falkenstein 16
Fairfield 15
Des Moines 14
Falls Church 14
Hefei 14
Warsaw 14
Toronto 13
Kunming 12
Brno 11
Jinan 10
San Francisco 10
Santa Clara 10
Brooklyn 9
Rio de Janeiro 9
Zhengzhou 9
Columbus 8
Johannesburg 8
Nuremberg 8
Atlanta 7
Brasília 7
Chennai 7
Frankfurt am Main 7
Fuzhou 7
Poplar 7
Seattle 7
Campinas 6
Guangzhou 6
London 6
Montreal 6
Stockholm 6
Curitiba 5
Guayaquil 5
Phoenix 5
Quito 5
Tashkent 5
Verona 5
Vienna 5
Auburn Hills 4
Belo Horizonte 4
Bishkek 4
Chicago 4
Dearborn 4
Denver 4
Maceió 4
Manchester 4
Orem 4
Salvador 4
Santo André 4
Shijiazhuang 4
Taizhou 4
Ankara 3
Anápolis 3
Belém 3
Berlin 3
Biên Hòa 3
Boston 3
Changchun 3
Charlotte 3
Da Nang 3
Totale 5.317
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Nome #
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 130
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. 129
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 129
Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011. 129
Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangements? 123
5p13 microduplication syndrome: a new case and better clinical definition of the syndrome. 122
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 121
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 119
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. 116
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome. 116
Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke 113
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion 113
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 107
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. 106
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome 105
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. 105
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 102
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications. 101
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. 100
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. 100
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. 100
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications 100
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. 99
MEF2C deletions and mutations versus duplications: a clinical comparison. 98
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease. 97
Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease? 96
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. 95
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. 94
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association 93
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. 89
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease. 89
The Search for Molecular Markers in a Gene-Orphan Case Study of a Pediatric Spinal Cord Pilocytic Astrocytoma 87
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. 86
Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short arm. 85
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 84
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 84
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. 82
PRKACB and Carney complex 82
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion. 81
Inverted duplications deletions: underdiagnosed rearrangements?? 79
XX males SRY negative: a confirmed cause of infertility 78
The phenotype of recurrent 10q22q23 deletions and duplications. 77
Common structural features characterize interstitial intrachromosomal Xp and 18q triplications. 77
Guidelines for molecular karyotyping in constitutional genetic diagnosis. 76
Inverted duplications deletions: underdiagnosed rearrangements?? 74
MECP2 duplication phenotype in symptomatic females: Report of three further cases 74
MECP2 duplication phenotype in symptomatic females: report of three cases. 74
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2. 73
Guidelines for molecular karyotyping in constitutional genetic diagnosis. 72
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly. 72
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene 72
Inverted duplications: how many of them are mosaic? 72
Reciprocal translocations: a trap for cytogenetists? 71
Malpuech syndrome: Broadening the clinical spectrum and molecular analysis by array-CGH. 70
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. 70
Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature. 70
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 70
Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype. 69
Reciprocal translocations: a trap for cytogenetists? 69
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe specch impairment. 68
Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant. 66
Evolutionary and clinical neocentromeres: two faces of the same coin? 66
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. 65
Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation. 65
Medullary sponge kidney associated with primary distal renal tubuler acidosis and mutations of the H+-ATPase genes. 65
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. 64
Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH 64
Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: a comparison with previously described cases. 64
Disruption of the ASTN2/tTRIM32 locus at 9p33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. 64
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes. Clues to the mechanisms of formation. 64
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis. 63
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. 62
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype 62
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. 61
Breakpoint determination of 15 large deletions in Peuts-Jeghers subjects. 61
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. 60
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. 60
PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia 60
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. 59
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. 58
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. 58
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. 58
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. 58
Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH. 58
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis 58
Evolutionary and clinical neocentromeres: two faces of the same coin? 58
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. 57
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts 57
Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: A comparison with previously described cases. 56
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects. 56
Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant. 55
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis. 54
Inverted duplications: how many of them are mosaic? 54
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. 54
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. 53
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. 53
Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood. 53
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome. 51
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene 51
Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease? 50
Totale 7.889
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Categoria #
all - tutte 34.190
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 34.190
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021443 0 0 0 0 1 85 6 122 21 101 90 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
2025/20261.514 242 306 422 373 171 0 0 0 0 0 0 0
Totale 8.178