IRIS UniCatt

Gurrieri, Fiorella
 Distribuzione geografica
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Continente #
NA - Nord America 2.292
EU - Europa 2.199
AS - Asia 1.865
SA - Sud America 471
AF - Africa 70
Continente sconosciuto - Info sul continente non disponibili 4
OC - Oceania 4
Totale 6.905
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Nazione #
US - Stati Uniti d'America 2.225
SG - Singapore 820
CN - Cina 581
DE - Germania 500
SE - Svezia 499
BR - Brasile 404
IT - Italia 363
UA - Ucraina 220
FR - Francia 133
IE - Irlanda 101
VN - Vietnam 82
ID - Indonesia 71
GB - Regno Unito 70
IN - India 70
FI - Finlandia 66
RU - Federazione Russa 64
PL - Polonia 62
TR - Turchia 55
HK - Hong Kong 36
CA - Canada 35
CI - Costa d'Avorio 33
NL - Olanda 31
JP - Giappone 26
AR - Argentina 23
BD - Bangladesh 22
MX - Messico 20
AT - Austria 16
BE - Belgio 16
IQ - Iraq 15
KR - Corea 15
PK - Pakistan 14
CZ - Repubblica Ceca 12
ZA - Sudafrica 12
IR - Iran 11
VE - Venezuela 11
EC - Ecuador 9
SA - Arabia Saudita 9
ES - Italia 6
LT - Lituania 6
MA - Marocco 6
PY - Paraguay 6
UZ - Uzbekistan 6
CO - Colombia 5
EG - Egitto 5
CH - Svizzera 4
CL - Cile 4
DZ - Algeria 4
JO - Giordania 4
KG - Kirghizistan 4
PE - Perù 4
PT - Portogallo 4
AE - Emirati Arabi Uniti 3
AU - Australia 3
AZ - Azerbaigian 3
BG - Bulgaria 3
BZ - Belize 3
EU - Europa 3
GR - Grecia 3
KZ - Kazakistan 3
MT - Malta 3
NO - Norvegia 3
PA - Panama 3
UY - Uruguay 3
AO - Angola 2
BO - Bolivia 2
BY - Bielorussia 2
DK - Danimarca 2
GA - Gabon 2
IL - Israele 2
KE - Kenya 2
MD - Moldavia 2
NP - Nepal 2
OM - Oman 2
PH - Filippine 2
PS - Palestinian Territory 2
RO - Romania 2
AL - Albania 1
AM - Armenia 1
BB - Barbados 1
BH - Bahrain 1
CD - Congo 1
CR - Costa Rica 1
DO - Repubblica Dominicana 1
EE - Estonia 1
GI - Gibilterra 1
HN - Honduras 1
HU - Ungheria 1
IM - Isola di Man 1
KW - Kuwait 1
LV - Lettonia 1
MY - Malesia 1
NG - Nigeria 1
NI - Nicaragua 1
NR - Nauru 1
TH - Thailandia 1
TN - Tunisia 1
TT - Trinidad e Tobago 1
XK - ???statistics.table.value.countryCode.XK??? 1
ZW - Zimbabwe 1
Totale 6.905
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Città #
Singapore 340
Chandler 324
Ashburn 298
Beijing 109
Dublin 101
San Mateo 96
Ann Arbor 92
Nanjing 90
Jacksonville 88
Jakarta 68
Hefei 62
Milan 61
Boston 55
Munich 48
Wilmington 48
New York 47
Los Angeles 44
Rome 44
Cattolica 43
Woodbridge 42
Moscow 40
Izmir 38
Hong Kong 35
Nanchang 35
Warsaw 35
Lawrence 34
Abidjan 33
Dearborn 29
Houston 29
Seattle 29
São Paulo 28
Ho Chi Minh City 24
Dallas 23
Hanoi 23
Redmond 23
Frankfurt am Main 22
Princeton 21
Kraków 20
Santa Clara 20
Kent 19
Redwood City 18
Fairfield 17
Helsinki 17
Nürnberg 17
Brussels 16
Tianjin 16
Boardman 15
Chicago 15
Hebei 15
Rio de Janeiro 15
Tokyo 15
Jiaxing 14
Seoul 14
Shanghai 14
The Dalles 14
Brooklyn 13
Shenyang 13
Buffalo 11
Marseille 11
Montreal 11
North Bergen 11
Nuremberg 11
Brno 10
Changsha 10
Kunming 10
Norwalk 10
Poplar 10
University Park 10
Augusta 9
Curitiba 9
Denver 9
Mountain View 9
Pune 9
Toronto 9
Amsterdam 8
Brasília 8
Guangzhou 8
Jinan 8
Phoenix 8
Bremen 7
Kish 7
Zhengzhou 7
Belo Horizonte 6
Chennai 6
Dhaka 6
Hangzhou 6
Johannesburg 6
Lancaster 6
Philadelphia 6
Pittsburgh 6
Salt Lake City 6
San Francisco 6
Turku 6
Vienna 6
Andover 5
Changchun 5
Da Nang 5
Hyderabad 5
Indiana 5
Istanbul 5
Totale 3.250
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Nome #
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 249
Malattie da difetti dell'imprinting genomico 213
Difetti genetici dello sviluppo embrionale 201
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy. 192
DNA Methylation in the Diagnosis of Monogenic Diseases. 172
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 169
Hypo-phosphorylation of salivary peptidome a clue to the molecular pathogenesis of autism spectrum disorders 167
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus 158
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 152
Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype 152
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. 141
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 141
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. 140
The Simpson-Golabi-Behmel syndrome: a clinical case and a detective story 133
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. 131
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 122
Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schönlein purpura 120
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. 119
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. 119
A split hand-split foot (SHFM3) gene is located at 10q24-->25 115
No Correlation between X Chromosome Inactivation Pattern and Autistic Spectrum Disorders in an Italian Cohort of Patients 115
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients 114
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene 112
Defective oxytocin function: a clue to understanding the cause of autism 112
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome 111
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 108
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case 106
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 106
The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy 105
Identification of new candidate genes for spina bifida through exome sequencing 103
Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13 101
Elements of Morphology: standard terminology for the hands and feet 99
NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series. 99
Results of a gene panel approach in a cohort of patients with incomplete distal renal tubular acidosis and nephrolithiasis 98
Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schonlein purpura 97
Coding exons function as tissue-specific enhancers of nearby genes. 96
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases. 96
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome 95
Recognizable facial features in patients with alternating hemiplegia of childhood. 94
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients 92
Oral-facial-digital syndromes:review and diagnostic guidelines 91
Genetic imprinting:the paradigm of Prader Willi and Angelman syndromes 91
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor 91
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder 90
RADX Gene Variant May Predispose to Familial Asperger Syndrome 86
Distinct neurological disorders with ATP1A3 mutations. 85
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor. 84
Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update 81
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy 78
Functional characterization of tissue-specific enhancers in the DLX5/6 locus 77
Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers 76
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. 75
Oral-facial-digital syndromes: review and diagnostic guidelines 74
Defective loxytocin function: a clue to understanding the cause of autism? 71
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients 71
Working up autism: the practical role of medical genetics. 69
Advances in the genetics of progressive myoclonus epilepsy 67
Inv dup 15 syndrome: Case report with epilepsy onset in the first year 66
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study 64
PCR and sierology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism 60
Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects 56
Severe chronic primary neutropenia: findings from a patient who underwent exstensive evaluation including adenosine deaminase 2 gene variant assessment 46
Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome 42
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer 40
ULNAR RAY DEFECT IN AN INFANT WITH A 6Q21-7Q31.2-TRANSLOCATION - FURTHER EVIDENCE FOR THE EXISTENCE OF A LIMB DEFECT GENE IN 6Q21 39
ORAL-FACIAL-SKELETAL SYNDROMES 35
Totale 6.970
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Categoria #
all - tutte 30.155
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 30.155
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021249 0 0 0 0 0 29 57 3 57 15 77 11
2021/2022558 47 47 11 29 45 20 11 96 28 18 100 106
2022/20231.072 180 175 90 134 67 109 61 82 91 22 37 24
2023/2024560 14 129 25 39 17 71 61 11 9 28 61 95
2024/20251.170 25 39 87 40 97 40 20 51 217 102 267 185
2025/20261.681 479 108 201 334 407 152 0 0 0 0 0 0
Totale 6.970