IRIS UniCatt

Gurrieri, Fiorella
 Distribuzione geografica
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Continente #
NA - Nord America 2.762
EU - Europa 2.342
AS - Asia 2.337
SA - Sud America 503
AF - Africa 80
Continente sconosciuto - Info sul continente non disponibili 4
OC - Oceania 4
Totale 8.032
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Nazione #
US - Stati Uniti d'America 2.681
SG - Singapore 990
CN - Cina 608
DE - Germania 514
SE - Svezia 500
BR - Brasile 418
IT - Italia 395
VN - Vietnam 242
UA - Ucraina 221
FR - Francia 204
IE - Irlanda 103
IN - India 81
FI - Finlandia 73
GB - Regno Unito 73
HK - Hong Kong 73
ID - Indonesia 72
RU - Federazione Russa 65
PL - Polonia 63
TR - Turchia 58
JP - Giappone 53
CA - Canada 38
CI - Costa d'Avorio 34
NL - Olanda 34
AR - Argentina 31
BD - Bangladesh 27
MX - Messico 27
IQ - Iraq 25
AT - Austria 16
BE - Belgio 16
PK - Pakistan 16
KR - Corea 15
ZA - Sudafrica 15
VE - Venezuela 14
CZ - Repubblica Ceca 12
IR - Iran 11
EC - Ecuador 10
SA - Arabia Saudita 10
CO - Colombia 7
JO - Giordania 7
LT - Lituania 7
MA - Marocco 7
CL - Cile 6
ES - Italia 6
PY - Paraguay 6
UZ - Uzbekistan 6
AE - Emirati Arabi Uniti 5
CH - Svizzera 5
EG - Egitto 5
KG - Kirghizistan 5
KZ - Kazakistan 5
PE - Perù 5
AZ - Azerbaigian 4
DZ - Algeria 4
KE - Kenya 4
MY - Malesia 4
PH - Filippine 4
PT - Portogallo 4
UY - Uruguay 4
AU - Australia 3
BG - Bulgaria 3
BZ - Belize 3
CR - Costa Rica 3
EU - Europa 3
GR - Grecia 3
IL - Israele 3
MT - Malta 3
NO - Norvegia 3
NP - Nepal 3
PA - Panama 3
RO - Romania 3
AO - Angola 2
BO - Bolivia 2
BY - Bielorussia 2
DK - Danimarca 2
GA - Gabon 2
HN - Honduras 2
HU - Ungheria 2
MD - Moldavia 2
OM - Oman 2
PS - Palestinian Territory 2
RS - Serbia 2
AL - Albania 1
AM - Armenia 1
BB - Barbados 1
BH - Bahrain 1
CD - Congo 1
DO - Repubblica Dominicana 1
EE - Estonia 1
ET - Etiopia 1
GI - Gibilterra 1
HR - Croazia 1
IM - Isola di Man 1
JM - Giamaica 1
KW - Kuwait 1
LB - Libano 1
LV - Lettonia 1
MM - Myanmar 1
NG - Nigeria 1
NI - Nicaragua 1
NR - Nauru 1
Totale 8.025
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Città #
Singapore 505
Ashburn 380
Chandler 324
San Jose 266
Beijing 111
Dublin 103
San Mateo 96
Ann Arbor 92
Nanjing 90
Jacksonville 88
Ho Chi Minh City 82
Jakarta 68
Hong Kong 66
Milan 65
Hanoi 62
Hefei 62
Lauterbourg 58
Boston 55
Los Angeles 55
Rome 52
Munich 49
Wilmington 48
New York 47
Cattolica 43
Tokyo 42
Woodbridge 42
Moscow 40
Izmir 38
Santa Clara 36
Warsaw 36
Nanchang 35
Abidjan 34
Lawrence 34
Frankfurt am Main 33
São Paulo 31
Dearborn 29
Houston 29
Seattle 29
The Dalles 25
Dallas 24
Helsinki 23
Redmond 23
Princeton 21
Kraków 20
Chicago 19
Kent 19
Redwood City 18
Rio de Janeiro 18
Fairfield 17
Nürnberg 17
Paris 17
Brussels 16
Shanghai 16
Tianjin 16
Boardman 15
Da Nang 15
Hebei 15
Jiaxing 14
Seoul 14
Brooklyn 13
Montreal 13
Shenyang 13
Buffalo 12
Marseille 12
Nuremberg 12
North Bergen 11
Amsterdam 10
Brno 10
Changsha 10
Council Bluffs 10
Denver 10
Guangzhou 10
Kunming 10
Norwalk 10
Poplar 10
Pune 10
University Park 10
Augusta 9
Baghdad 9
Curitiba 9
Mountain View 9
Orem 9
Toronto 9
Brasília 8
Chennai 8
Dhaka 8
Jinan 8
Johannesburg 8
Mexico City 8
Phoenix 8
Amman 7
Bremen 7
Hangzhou 7
Kish 7
Mumbai 7
Philadelphia 7
Zhengzhou 7
Belo Horizonte 6
Hyderabad 6
Istanbul 6
Totale 4.110
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Nome #
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 270
Malattie da difetti dell'imprinting genomico 237
Difetti genetici dello sviluppo embrionale 217
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 213
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy. 206
DNA Methylation in the Diagnosis of Monogenic Diseases. 206
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus 189
Hypo-phosphorylation of salivary peptidome a clue to the molecular pathogenesis of autism spectrum disorders 183
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 169
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 166
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 164
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. 162
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. 159
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. 149
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene 146
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 146
The Simpson-Golabi-Behmel syndrome: a clinical case and a detective story 144
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. 143
A split hand-split foot (SHFM3) gene is located at 10q24-->25 138
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. 137
Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schönlein purpura 133
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome 132
Identification of new candidate genes for spina bifida through exome sequencing 130
Results of a gene panel approach in a cohort of patients with incomplete distal renal tubular acidosis and nephrolithiasis 129
No Correlation between X Chromosome Inactivation Pattern and Autistic Spectrum Disorders in an Italian Cohort of Patients 128
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 128
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 125
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients 125
Defective oxytocin function: a clue to understanding the cause of autism 123
The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy 121
Elements of Morphology: standard terminology for the hands and feet 117
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases. 117
Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schonlein purpura 117
Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13 115
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case 115
Coding exons function as tissue-specific enhancers of nearby genes. 113
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome 112
NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series. 109
Recognizable facial features in patients with alternating hemiplegia of childhood. 109
RADX Gene Variant May Predispose to Familial Asperger Syndrome 109
Oral-facial-digital syndromes:review and diagnostic guidelines 106
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor 106
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients 105
Genetic imprinting:the paradigm of Prader Willi and Angelman syndromes 102
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder 98
Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update 97
Distinct neurological disorders with ATP1A3 mutations. 96
Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers 95
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor. 95
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy 95
Functional characterization of tissue-specific enhancers in the DLX5/6 locus 91
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. 88
Working up autism: the practical role of medical genetics. 87
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients 87
Advances in the genetics of progressive myoclonus epilepsy 87
Inv dup 15 syndrome: Case report with epilepsy onset in the first year 84
Oral-facial-digital syndromes: review and diagnostic guidelines 84
Defective loxytocin function: a clue to understanding the cause of autism? 78
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study 72
Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects 69
PCR and sierology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism 68
ULNAR RAY DEFECT IN AN INFANT WITH A 6Q21-7Q31.2-TRANSLOCATION - FURTHER EVIDENCE FOR THE EXISTENCE OF A LIMB DEFECT GENE IN 6Q21 62
Severe chronic primary neutropenia: findings from a patient who underwent exstensive evaluation including adenosine deaminase 2 gene variant assessment 58
Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome 53
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer 52
ORAL-FACIAL-SKELETAL SYNDROMES 48
Totale 8.114
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Categoria #
all - tutte 32.439
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 32.439
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021103 0 0 0 0 0 0 0 0 0 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
2025/20262.825 479 108 201 334 407 214 590 136 198 158 0 0
Totale 8.114