IRIS
CICCONE, ROBERTO
 Distribuzione geografica
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Continente #
NA - Nord America 2.315
EU - Europa 1.754
AS - Asia 1.179
OC - Oceania 4
AF - Africa 3
Continente sconosciuto - Info sul continente non disponibili 1
SA - Sud America 1
Totale 5.257
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Nazione #
US - Stati Uniti d'America 2.305
CN - Cina 1.159
IE - Irlanda 554
UA - Ucraina 371
FI - Finlandia 268
DE - Germania 224
SE - Svezia 127
IT - Italia 89
GB - Regno Unito 61
FR - Francia 19
BE - Belgio 17
CZ - Repubblica Ceca 13
JP - Giappone 12
CA - Canada 10
MU - Mauritius 3
NL - Olanda 3
RU - Federazione Russa 3
AU - Australia 2
CH - Svizzera 2
HK - Hong Kong 2
IN - India 2
IR - Iran 2
NZ - Nuova Zelanda 2
CL - Cile 1
EU - Europa 1
LV - Lettonia 1
PL - Polonia 1
RO - Romania 1
SA - Arabia Saudita 1
TR - Turchia 1
Totale 5.257
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Città #
Chandler 561
Dublin 553
Jacksonville 477
Nanjing 329
Nanchang 135
Ashburn 126
Princeton 111
Hebei 105
Lawrence 105
Shenyang 101
Beijing 100
Wilmington 97
Changsha 90
Jiaxing 85
Medford 82
Ann Arbor 75
Helsinki 73
Boardman 72
Tianjin 56
Hangzhou 45
Woodbridge 33
Shanghai 31
New York 28
Milan 27
Pavia 26
Norwalk 19
Brussels 17
Fairfield 15
Des Moines 14
Falls Church 14
Hefei 13
Brno 11
Kunming 11
Tokyo 11
Jinan 9
Fuzhou 7
Toronto 7
Los Angeles 5
Seattle 5
Verona 5
Auburn Hills 4
Dearborn 4
Falkenstein 4
Taizhou 4
Zhengzhou 4
Berlin 3
Guangzhou 3
Lanzhou 3
Ningbo 3
Washington 3
Borås 2
Changchun 2
Chieti 2
College Station 2
North Palm Beach 2
Orange 2
Portland 2
Redwood City 2
San Francisco 2
Selargius 2
Auckland 1
Central 1
Chicago 1
Christchurch 1
Desio 1
Forest City 1
Geislingen an der Steige 1
Gunzenhausen 1
Haikou 1
Hong Kong 1
Huizen 1
Kemerovo 1
Kilkenny 1
Kish 1
Las Vegas 1
Manchester 1
Markham 1
Melbourne 1
Modica 1
Novokuznetsk 1
Ottawa 1
Paris 1
Pune 1
Redmond 1
Riyadh 1
Rockville 1
San Jose 1
Sandston 1
Sestu 1
Tappahannock 1
Timisoara 1
Trumbull 1
Walnut 1
Warsaw 1
Totale 3.775
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Nome #
Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangements? 89
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion 85
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. 78
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. 78
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome 75
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 75
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. 75
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 73
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 72
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 71
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. 70
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome. 70
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications. 70
5p13 microduplication syndrome: a new case and better clinical definition of the syndrome. 70
Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease? 68
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. 67
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. 66
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications 66
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. 65
MEF2C deletions and mutations versus duplications: a clinical comparison. 65
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. 64
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. 63
Inverted duplications deletions: underdiagnosed rearrangements?? 63
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. 63
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 63
Inverted duplications deletions: underdiagnosed rearrangements?? 62
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. 61
Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short arm. 61
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 60
Malpuech syndrome: Broadening the clinical spectrum and molecular analysis by array-CGH. 58
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease. 58
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 58
Guidelines for molecular karyotyping in constitutional genetic diagnosis. 57
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene 57
Inverted duplications: how many of them are mosaic? 56
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly. 55
MECP2 duplication phenotype in symptomatic females: report of three cases. 55
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease. 54
The phenotype of recurrent 10q22q23 deletions and duplications. 54
Guidelines for molecular karyotyping in constitutional genetic diagnosis. 54
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. 54
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe specch impairment. 53
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association 53
Reciprocal translocations: a trap for cytogenetists? 52
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. 51
Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke 51
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis. 50
Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant. 50
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. 50
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. 49
Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype. 49
Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH 48
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. 48
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2. 48
The Search for Molecular Markers in a Gene-Orphan Case Study of a Pediatric Spinal Cord Pilocytic Astrocytoma 48
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. 47
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. 47
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. 47
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. 47
Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation. 47
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. 47
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. 46
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. 46
Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant. 45
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 45
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes. Clues to the mechanisms of formation. 45
XX males SRY negative: a confirmed cause of infertility 44
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects. 43
Breakpoint determination of 15 large deletions in Peuts-Jeghers subjects. 43
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion. 43
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis. 42
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. 42
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. 41
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. 41
Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH. 41
Common structural features characterize interstitial intrachromosomal Xp and 18q triplications. 41
Medullary sponge kidney associated with primary distal renal tubuler acidosis and mutations of the H+-ATPase genes. 41
PRKACB and Carney complex 41
Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood. 41
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. 40
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome. 40
Inverted duplications: how many of them are mosaic? 40
Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature. 39
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. 39
Disruption of the ASTN2/tTRIM32 locus at 9p33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. 39
Evolutionary and clinical neocentromeres: two faces of the same coin? 39
Reciprocal translocations: a trap for cytogenetists? 39
Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: A comparison with previously described cases. 38
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. 37
MECP2 duplication phenotype in symptomatic females: Report of three further cases 37
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome. 36
Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011. 35
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 34
Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease? 33
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene 32
Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: a comparison with previously described cases. 30
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype 30
Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangement? 27
Evolutionary and clinical neocentromeres: two faces of the same coin? 26
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis 26
Totale 5.167
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Categoria #
all - tutte 18.742
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 18.742
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.392 398 540 3 69 1 80 25 84 8 140 40 4
2020/2021684 93 60 17 71 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
Totale 5.321