IRIS
CICCONE, ROBERTO
 Distribuzione geografica
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Continente #
NA - Nord America 3.219
AS - Asia 2.449
EU - Europa 2.254
SA - Sud America 335
AF - Africa 37
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 1
Totale 8.300
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Nazione #
US - Stati Uniti d'America 3.168
CN - Cina 1.458
IE - Irlanda 555
SG - Singapore 496
UA - Ucraina 377
DE - Germania 303
FI - Finlandia 302
HK - Hong Kong 281
BR - Brasile 273
RU - Federazione Russa 242
SE - Svezia 136
VN - Vietnam 110
IT - Italia 109
GB - Regno Unito 100
CA - Canada 33
FR - Francia 27
AR - Argentina 25
JP - Giappone 23
BE - Belgio 17
CZ - Repubblica Ceca 16
IN - India 16
EC - Ecuador 15
PL - Polonia 15
ZA - Sudafrica 14
MX - Messico 12
BD - Bangladesh 10
ES - Italia 10
TR - Turchia 10
AT - Austria 9
VE - Venezuela 9
LT - Lituania 8
CH - Svizzera 7
CO - Colombia 7
ID - Indonesia 7
MA - Marocco 7
IQ - Iraq 5
NL - Olanda 5
UZ - Uzbekistan 5
KG - Kirghizistan 4
PK - Pakistan 4
TN - Tunisia 4
EG - Egitto 3
KE - Kenya 3
MU - Mauritius 3
NO - Norvegia 3
NZ - Nuova Zelanda 3
PY - Paraguay 3
SA - Arabia Saudita 3
AE - Emirati Arabi Uniti 2
AL - Albania 2
AU - Australia 2
AZ - Azerbaigian 2
BY - Bielorussia 2
CL - Cile 2
ET - Etiopia 2
IR - Iran 2
KW - Kuwait 2
LV - Lettonia 2
TT - Trinidad e Tobago 2
BG - Bulgaria 1
BW - Botswana 1
CR - Costa Rica 1
EE - Estonia 1
EU - Europa 1
GT - Guatemala 1
HN - Honduras 1
HR - Croazia 1
JO - Giordania 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
MD - Moldavia 1
MN - Mongolia 1
OM - Oman 1
PA - Panama 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 8.300
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Città #
Chandler 561
Dublin 554
Jacksonville 478
Nanjing 330
Hong Kong 279
Dallas 266
Beijing 227
Singapore 207
Ashburn 201
Boardman 178
Nanchang 135
Princeton 111
Hebei 105
Lawrence 105
Shenyang 103
Wilmington 97
Changsha 91
Jiaxing 85
Helsinki 84
Medford 82
Ann Arbor 75
Tianjin 59
Los Angeles 55
Hangzhou 48
New York 48
Munich 43
Ho Chi Minh City 41
Buffalo 37
Shanghai 36
Moscow 35
Redondo Beach 34
Woodbridge 33
Milan 32
São Paulo 27
Hanoi 26
Pavia 26
The Dalles 25
Turku 23
Tokyo 21
Norwalk 19
Brussels 17
Falkenstein 16
Fairfield 15
Des Moines 14
Falls Church 14
Hefei 14
Warsaw 14
Toronto 13
Kunming 12
Brno 11
Santa Clara 11
Jinan 10
Johannesburg 10
Rio de Janeiro 10
San Francisco 10
Brooklyn 9
Stockholm 9
Zhengzhou 9
Brasília 8
Chennai 8
Columbus 8
Nuremberg 8
Atlanta 7
Frankfurt am Main 7
Fuzhou 7
London 7
Montreal 7
Poplar 7
Seattle 7
Boston 6
Campinas 6
Denver 6
Guangzhou 6
Guayaquil 6
Curitiba 5
Orem 5
Phoenix 5
Quito 5
Tashkent 5
Verona 5
Vienna 5
Auburn Hills 4
Belo Horizonte 4
Bishkek 4
Chicago 4
Da Nang 4
Dearborn 4
Maceió 4
Manchester 4
Salvador 4
Santo André 4
Shijiazhuang 4
Taizhou 4
Ankara 3
Anápolis 3
Belém 3
Berlin 3
Biên Hòa 3
Changchun 3
Charlotte 3
Totale 5.455
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Nome #
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 133
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. 132
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 131
Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011. 130
Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangements? 128
5p13 microduplication syndrome: a new case and better clinical definition of the syndrome. 124
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 122
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 122
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. 118
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome. 118
Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke 115
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion 115
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 110
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. 109
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome 107
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. 107
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. 104
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications. 104
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. 103
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 103
MEF2C deletions and mutations versus duplications: a clinical comparison. 102
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. 101
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. 100
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications 100
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease. 98
Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease? 97
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. 96
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. 96
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association 95
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. 94
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease. 92
The Search for Molecular Markers in a Gene-Orphan Case Study of a Pediatric Spinal Cord Pilocytic Astrocytoma 91
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. 89
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 88
Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short arm. 87
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 85
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion. 84
PRKACB and Carney complex 83
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. 82
Common structural features characterize interstitial intrachromosomal Xp and 18q triplications. 81
Inverted duplications deletions: underdiagnosed rearrangements?? 80
XX males SRY negative: a confirmed cause of infertility 79
The phenotype of recurrent 10q22q23 deletions and duplications. 77
Guidelines for molecular karyotyping in constitutional genetic diagnosis. 77
Inverted duplications deletions: underdiagnosed rearrangements?? 76
MECP2 duplication phenotype in symptomatic females: report of three cases. 76
MECP2 duplication phenotype in symptomatic females: Report of three further cases 75
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2. 74
Inverted duplications: how many of them are mosaic? 74
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 74
Guidelines for molecular karyotyping in constitutional genetic diagnosis. 73
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene 73
Malpuech syndrome: Broadening the clinical spectrum and molecular analysis by array-CGH. 72
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly. 72
Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature. 72
Reciprocal translocations: a trap for cytogenetists? 72
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. 71
Reciprocal translocations: a trap for cytogenetists? 71
Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype. 70
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe specch impairment. 69
Medullary sponge kidney associated with primary distal renal tubuler acidosis and mutations of the H+-ATPase genes. 68
Evolutionary and clinical neocentromeres: two faces of the same coin? 68
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype 68
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. 67
Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation. 67
Disruption of the ASTN2/tTRIM32 locus at 9p33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. 67
Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant. 66
Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: a comparison with previously described cases. 66
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes. Clues to the mechanisms of formation. 66
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. 65
Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH 65
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis. 65
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. 64
Breakpoint determination of 15 large deletions in Peuts-Jeghers subjects. 63
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. 62
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. 62
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. 61
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts 61
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. 60
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. 60
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. 60
PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia 60
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. 59
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. 59
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects. 59
Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH. 59
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis 59
Evolutionary and clinical neocentromeres: two faces of the same coin? 59
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. 58
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. 57
Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: A comparison with previously described cases. 56
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. 56
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. 55
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis. 55
Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant. 55
Inverted duplications: how many of them are mosaic? 54
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene 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. 52
Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease? 51
Totale 8.073
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Categoria #
all - tutte 34.917
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 34.917
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021442 0 0 0 0 0 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
2025/20261.704 242 306 422 373 340 21 0 0 0 0 0 0
Totale 8.368