IRIS UniCatt

Gurrieri, Fiorella
 Distribuzione geografica
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Continente #
EU - Europa 2.045
NA - Nord America 1.796
AS - Asia 948
SA - Sud America 187
AF - Africa 47
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 3
Totale 5.029
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Nazione #
US - Stati Uniti d'America 1.776
SE - Svezia 487
DE - Germania 472
CN - Cina 391
IT - Italia 345
SG - Singapore 305
UA - Ucraina 218
BR - Brasile 178
FR - Francia 120
IE - Irlanda 100
ID - Indonesia 67
FI - Finlandia 58
RU - Federazione Russa 58
PL - Polonia 55
TR - Turchia 49
IN - India 45
GB - Regno Unito 35
CI - Costa d'Avorio 31
NL - Olanda 25
HK - Hong Kong 17
BE - Belgio 16
JP - Giappone 15
KR - Corea 15
CA - Canada 12
CZ - Repubblica Ceca 12
IR - Iran 10
AT - Austria 9
VN - Vietnam 6
CH - Svizzera 4
EG - Egitto 4
MA - Marocco 4
PT - Portogallo 4
AR - Argentina 3
AU - Australia 3
BD - Bangladesh 3
BG - Bulgaria 3
BZ - Belize 3
CL - Cile 3
EU - Europa 3
GR - Grecia 3
KG - Kirghizistan 3
LT - Lituania 3
MT - Malta 3
MX - Messico 3
NO - Norvegia 3
PK - Pakistan 3
UZ - Uzbekistan 3
ZA - Sudafrica 3
AE - Emirati Arabi Uniti 2
DK - Danimarca 2
ES - Italia 2
GA - Gabon 2
IL - Israele 2
IQ - Iraq 2
PH - Filippine 2
RO - Romania 2
SA - Arabia Saudita 2
AL - Albania 1
AM - Armenia 1
BY - Bielorussia 1
CR - Costa Rica 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
EC - Ecuador 1
EE - Estonia 1
HU - Ungheria 1
KE - Kenya 1
KW - Kuwait 1
KZ - Kazakistan 1
LV - Lettonia 1
MD - Moldavia 1
OM - Oman 1
PE - Perù 1
PS - Palestinian Territory 1
TH - Thailandia 1
TN - Tunisia 1
VE - Venezuela 1
Totale 5.029
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Città #
Chandler 324
Ashburn 197
Singapore 168
Dublin 100
San Mateo 96
Ann Arbor 92
Nanjing 90
Jacksonville 87
Jakarta 66
Milan 61
Boston 48
Wilmington 48
Beijing 46
Cattolica 43
Woodbridge 42
Moscow 39
Izmir 38
Rome 36
Nanchang 35
Lawrence 34
Munich 33
Abidjan 31
New York 31
Warsaw 30
Dearborn 29
Seattle 25
Redmond 23
Princeton 21
Kraków 20
Houston 19
Los Angeles 18
Redwood City 18
Fairfield 17
Helsinki 17
Nürnberg 17
Brussels 16
Hong Kong 16
Boardman 15
Hebei 15
Hefei 15
Tianjin 15
Jiaxing 14
Seoul 14
The Dalles 14
Shenyang 13
Shanghai 12
Marseille 11
North Bergen 11
Brno 10
Changsha 10
Frankfurt am Main 10
Kunming 10
Norwalk 10
Nuremberg 10
Santa Clara 10
São Paulo 10
University Park 10
Augusta 9
Mountain View 9
Guangzhou 8
Jinan 8
Bremen 7
Kish 7
Pune 7
Zhengzhou 7
Hangzhou 6
Lancaster 6
Philadelphia 6
Amsterdam 5
Andover 5
Changchun 5
Hyderabad 5
Indiana 5
Rio de Janeiro 5
Toronto 5
Washington 5
Belo Horizonte 4
Brasília 4
Chicago 4
Funchal 4
Lanzhou 4
Leawood 4
Marion 4
Salt Lake City 4
San Francisco 4
Tokyo 4
Vienna 4
West Jordan 4
Athens 3
Belize City 3
Bishkek 3
Busto Arsizio 3
Cagliari 3
Cairo 3
Cambridge 3
Capri 3
Castel Volturno 3
Contagem 3
Curitiba 3
Dalian 3
Totale 2.514
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Nome #
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 221
Malattie da difetti dell'imprinting genomico 195
Difetti genetici dello sviluppo embrionale 179
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy. 148
Hypo-phosphorylation of salivary peptidome a clue to the molecular pathogenesis of autism spectrum disorders 136
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 131
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 127
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 123
DNA Methylation in the Diagnosis of Monogenic Diseases. 122
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus 120
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. 115
The Simpson-Golabi-Behmel syndrome: a clinical case and a detective story 107
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. 107
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 104
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. 99
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients 94
A split hand-split foot (SHFM3) gene is located at 10q24-->25 91
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome 88
No Correlation between X Chromosome Inactivation Pattern and Autistic Spectrum Disorders in an Italian Cohort of Patients 88
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. 88
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case 84
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. 84
Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schönlein purpura 83
NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series. 82
Defective oxytocin function: a clue to understanding the cause of autism 81
Coding exons function as tissue-specific enhancers of nearby genes. 78
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 78
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 77
Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13 73
Identification of new candidate genes for spina bifida through exome sequencing 73
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor 72
Recognizable facial features in patients with alternating hemiplegia of childhood. 70
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder 69
Oral-facial-digital syndromes:review and diagnostic guidelines 68
The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy 68
Results of a gene panel approach in a cohort of patients with incomplete distal renal tubular acidosis and nephrolithiasis 68
Distinct neurological disorders with ATP1A3 mutations. 67
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases. 65
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome 65
Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schonlein purpura 65
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor. 64
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 63
Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update 63
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy 62
Elements of Morphology: standard terminology for the hands and feet 61
Genetic imprinting:the paradigm of Prader Willi and Angelman syndromes 59
RADX Gene Variant May Predispose to Familial Asperger Syndrome 57
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene 55
Oral-facial-digital syndromes: review and diagnostic guidelines 55
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. 54
Functional characterization of tissue-specific enhancers in the DLX5/6 locus 52
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients 52
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients 50
Defective loxytocin function: a clue to understanding the cause of autism? 47
Working up autism: the practical role of medical genetics. 45
PCR and sierology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism 42
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study 42
Advances in the genetics of progressive myoclonus epilepsy 40
Inv dup 15 syndrome: Case report with epilepsy onset in the first year 32
Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers 28
Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects 24
Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome 22
Severe chronic primary neutropenia: findings from a patient who underwent exstensive evaluation including adenosine deaminase 2 gene variant assessment 19
ULNAR RAY DEFECT IN AN INFANT WITH A 6Q21-7Q31.2-TRANSLOCATION - FURTHER EVIDENCE FOR THE EXISTENCE OF A LIMB DEFECT GENE IN 6Q21 19
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer 17
ORAL-FACIAL-SKELETAL SYNDROMES 15
Totale 5.092
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Categoria #
all - tutte 24.084
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 24.084
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020128 0 0 0 0 0 0 0 0 0 0 73 55
2020/2021434 15 48 13 48 61 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
2024/2025973 25 39 87 40 97 40 20 51 217 102 255 0
Totale 5.092