IRIS PubliCatt

Gurrieri, Fiorella
 Distribuzione geografica
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Continente #
EU - Europa 1.881
NA - Nord America 1.674
AS - Asia 713
AF - Africa 31
SA - Sud America 6
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 3
Totale 4.311
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Nazione #
US - Stati Uniti d'America 1.662
DE - Germania 451
SE - Svezia 438
CN - Cina 347
IT - Italia 316
UA - Ucraina 217
SG - Singapore 157
FR - Francia 105
IE - Irlanda 98
ID - Indonesia 66
PL - Polonia 55
FI - Finlandia 51
RU - Federazione Russa 48
TR - Turchia 47
IN - India 41
CI - Costa d'Avorio 31
GB - Regno Unito 28
NL - Olanda 18
BE - Belgio 15
HK - Hong Kong 15
JP - Giappone 15
CZ - Repubblica Ceca 11
IR - Iran 10
CA - Canada 7
BR - Brasile 4
CH - Svizzera 4
PT - Portogallo 4
VN - Vietnam 4
AU - Australia 3
BZ - Belize 3
EU - Europa 3
GR - Grecia 3
MT - Malta 3
NO - Norvegia 3
BG - Bulgaria 2
CL - Cile 2
DK - Danimarca 2
ES - Italia 2
KR - Corea 2
MX - Messico 2
PK - Pakistan 2
RO - Romania 2
SA - Arabia Saudita 2
AE - Emirati Arabi Uniti 1
EE - Estonia 1
HU - Ungheria 1
IL - Israele 1
KW - Kuwait 1
LT - Lituania 1
LV - Lettonia 1
MD - Moldavia 1
PH - Filippine 1
PS - Palestinian Territory 1
Totale 4.311
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Città #
Chandler 324
Ashburn 187
Singapore 118
Dublin 98
San Mateo 96
Ann Arbor 92
Nanjing 90
Jacksonville 87
Jakarta 66
Boston 48
Wilmington 48
Beijing 46
Cattolica 43
Milan 43
Woodbridge 42
Izmir 38
Moscow 38
Nanchang 35
Lawrence 34
Munich 32
Rome 32
Abidjan 31
Warsaw 30
Dearborn 29
New York 27
Redmond 23
Seattle 23
Princeton 21
Kraków 20
Houston 18
Redwood City 18
Fairfield 17
Nürnberg 17
Boardman 15
Brussels 15
Hebei 15
Tianjin 15
Hong Kong 14
Jiaxing 14
Los Angeles 13
Shenyang 13
Marseille 11
Brno 10
Changsha 10
Helsinki 10
Kunming 10
Norwalk 10
Shanghai 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
Andover 5
Changchun 5
Indiana 5
Chicago 4
Funchal 4
Lanzhou 4
Leawood 4
Marion 4
Salt Lake City 4
Tokyo 4
Toronto 4
Washington 4
Athens 3
Belize City 3
Busto Arsizio 3
Cagliari 3
Cambridge 3
Capri 3
Castel Volturno 3
Forest City 3
Fremont 3
Guidonia 3
Hyderabad 3
L'aquila 3
Las Vegas 3
Menlo Park 3
Messina 3
Naaldwijk 3
San Diego 3
Santa Clara 3
Verona 3
Villafranca Tirrena 3
Villeparisis 3
Amsterdam 2
Bagneux 2
Balıkesir 2
Bernareggio 2
Biella 2
Bologna 2
Campi Bisenzio 2
Totale 2.314
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Nome #
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 206
Malattie da difetti dell'imprinting genomico 189
Difetti genetici dello sviluppo embrionale 174
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy. 137
Hypo-phosphorylation of salivary peptidome a clue to the molecular pathogenesis of autism spectrum disorders 122
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 114
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 112
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. 110
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 107
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus 106
DNA Methylation in the Diagnosis of Monogenic Diseases. 103
The Simpson-Golabi-Behmel syndrome: a clinical case and a detective story 96
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. 93
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients 89
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. 87
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome 80
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 80
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. 79
No Correlation between X Chromosome Inactivation Pattern and Autistic Spectrum Disorders in an Italian Cohort of Patients 78
A split hand-split foot (SHFM3) gene is located at 10q24-->25 76
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case 76
NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series. 75
Defective oxytocin function: a clue to understanding the cause of autism 72
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. 70
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 69
Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schönlein purpura 68
Coding exons function as tissue-specific enhancers of nearby genes. 67
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 67
Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13 65
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor 65
The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy 63
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder 62
Recognizable facial features in patients with alternating hemiplegia of childhood. 62
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor. 60
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy 60
Oral-facial-digital syndromes:review and diagnostic guidelines 59
Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update 57
Identification of new candidate genes for spina bifida through exome sequencing 57
Elements of Morphology: standard terminology for the hands and feet 56
Distinct neurological disorders with ATP1A3 mutations. 56
Results of a gene panel approach in a cohort of patients with incomplete distal renal tubular acidosis and nephrolithiasis 56
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome 53
Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schonlein purpura 53
Genetic imprinting:the paradigm of Prader Willi and Angelman syndromes 50
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. 49
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases. 49
Oral-facial-digital syndromes: review and diagnostic guidelines 48
Functional characterization of tissue-specific enhancers in the DLX5/6 locus 45
RADX Gene Variant May Predispose to Familial Asperger Syndrome 43
Defective loxytocin function: a clue to understanding the cause of autism? 42
Working up autism: the practical role of medical genetics. 42
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients 42
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 39
PCR and sierology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism 39
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients 36
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study 35
Advances in the genetics of progressive myoclonus epilepsy 25
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene 15
Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers 13
Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome 12
ORAL-FACIAL-SKELETAL SYNDROMES 11
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer 11
ULNAR RAY DEFECT IN AN INFANT WITH A 6Q21-7Q31.2-TRANSLOCATION - FURTHER EVIDENCE FOR THE EXISTENCE OF A LIMB DEFECT GENE IN 6Q21 11
Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects 10
Severe chronic primary neutropenia: findings from a patient who underwent exstensive evaluation including adenosine deaminase 2 gene variant assessment 10
Inv dup 15 syndrome: Case report with epilepsy onset in the first year 9
Totale 4.372
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Categoria #
all - tutte 19.826
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 19.826
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020315 0 0 0 0 19 53 33 20 33 29 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
2024/2025253 25 39 87 40 62 0 0 0 0 0 0 0
Totale 4.372