IRIS
GURRIERI, FIORELLA
 Distribuzione geografica
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Continente #
AS - Asia 5.880
NA - Nord America 2.323
EU - Europa 1.163
SA - Sud America 286
AF - Africa 57
OC - Oceania 34
AN - Antartide 1
Continente sconosciuto - Info sul continente non disponibili 1
Totale 9.745
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Nazione #
SG - Singapore 4.615
US - Stati Uniti d'America 2.225
CN - Cina 702
IT - Italia 548
BR - Brasile 217
HK - Hong Kong 199
GB - Regno Unito 180
FR - Francia 142
VN - Vietnam 85
DE - Germania 76
CA - Canada 65
IN - India 65
BD - Bangladesh 36
JP - Giappone 32
AU - Australia 31
NL - Olanda 30
ID - Indonesia 24
ES - Italia 23
TR - Turchia 22
AR - Argentina 20
FI - Finlandia 20
MX - Messico 20
ZA - Sudafrica 20
PL - Polonia 18
EE - Estonia 17
EC - Ecuador 16
RU - Federazione Russa 14
CH - Svizzera 11
CO - Colombia 11
CZ - Repubblica Ceca 11
IQ - Iraq 11
MD - Moldavia 10
UA - Ucraina 10
CL - Cile 8
MY - Malesia 8
PK - Pakistan 8
PT - Portogallo 8
PH - Filippine 7
SA - Arabia Saudita 7
TN - Tunisia 7
BG - Bulgaria 6
LT - Lituania 6
MA - Marocco 6
SE - Svezia 6
AE - Emirati Arabi Uniti 5
JO - Giordania 5
TH - Thailandia 5
VE - Venezuela 5
AT - Austria 4
ET - Etiopia 4
HU - Ungheria 4
IR - Iran 4
KH - Cambogia 4
AZ - Azerbaigian 3
BE - Belgio 3
BO - Bolivia 3
CR - Costa Rica 3
CY - Cipro 3
EG - Egitto 3
KE - Kenya 3
KZ - Kazakistan 3
OM - Oman 3
PE - Perù 3
QA - Qatar 3
SI - Slovenia 3
UZ - Uzbekistan 3
AL - Albania 2
BB - Barbados 2
GR - Grecia 2
IL - Israele 2
JM - Giamaica 2
KR - Corea 2
MM - Myanmar 2
NG - Nigeria 2
NP - Nepal 2
PY - Paraguay 2
RS - Serbia 2
TW - Taiwan 2
AM - Armenia 1
AO - Angola 1
BA - Bosnia-Erzegovina 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
CV - Capo Verde 1
DK - Danimarca 1
GN - Guinea 1
GS - Georgia del Sud e Isole Sandwich Australi 1
GT - Guatemala 1
HN - Honduras 1
HR - Croazia 1
IE - Irlanda 1
KG - Kirghizistan 1
KI - Kiribati 1
KW - Kuwait 1
LA - Repubblica Popolare Democratica del Laos 1
LC - Santa Lucia 1
LK - Sri Lanka 1
LU - Lussemburgo 1
LY - Libia 1
MN - Mongolia 1
Totale 9.728
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Città #
San Jose 811
Ashburn 526
Singapore 498
Rome 408
Hefei 267
Hong Kong 197
London 151
Boardman 149
Beijing 143
Lauterbourg 122
Los Angeles 96
Shanghai 92
Dallas 89
New York 40
Munich 39
Ho Chi Minh City 29
Council Bluffs 26
São Paulo 25
San Francisco 23
Pune 22
Santa Clara 22
Amsterdam 18
Toronto 18
Washington 16
Brooklyn 15
Hanoi 15
Boydton 14
Shinchiba 14
Atlanta 13
Melbourne 13
Seattle 12
Boston 11
Frankfurt am Main 11
Las Vegas 11
Turku 11
Mexico City 10
Milan 10
Rio de Janeiro 10
Brno 9
Calgary 9
Chennai 9
Tokyo 9
Warsaw 9
Helsinki 8
Orem 8
Brasília 7
Canberra 7
Chicago 7
Guayaquil 7
Manchester 7
Montreal 7
Paris 7
Quito 7
Zurich 7
Ankara 6
Baghdad 6
Belo Horizonte 6
Bologna 6
Lodz 6
Secaucus 6
Stockholm 6
Sydney 6
Amman 5
Changsha 5
Charlotte 5
Chengdu 5
Da Nang 5
Denver 5
Dhaka 5
Jakarta 5
Johannesburg 5
Madrid 5
Redmond 5
Turin 5
Addis Ababa 4
Bangkok 4
Bari 4
Budapest 4
Cambridge 4
Curitiba 4
Delhi 4
Eygelshoven 4
Foggia 4
Hangzhou 4
Manila 4
Porto Alegre 4
Shenzhen 4
St Louis 4
Biên Hòa 3
Buffalo 3
Campinas 3
Can Tho 3
Clifton 3
Concepción 3
Doha 3
Florence 3
Haiphong 3
Jeddah 3
Karachi 3
Kawasaki 3
Totale 4.321
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Nome #
AUTS2-Related Neuropsychiatric Disorders with Intrafamilial Variability 387
Clinical implications of the family history in patients with lung cancer: a systematic review of the literature and a new cross-sectional/prospective study design (FAHIC: lung) 252
"MARCATORI MOLECOLARI PER L'AUTISMO" 237
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer? 235
Exome Profiling Suggests Combined Effect of Myeloperoxidase, Toll-Like Receptors, and Metallopeptidase in Hidradenitis Suppurativa 233
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 230
A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing 229
Emerging from the Darkness. Sudden Cardiac Death in Cardiac Amyloidosis 223
Simultaneous presence of Brugada and overgrowth syndromes 221
A new susceptibility locus for migraine with aura in the 15q11-q13 genomic region containing three GABA-A receptor genes 221
A split hand-split foot (SHFM3) gene is located at 10q24-->25 221
Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families 220
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus 218
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. 214
Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability 210
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer 210
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome 202
Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders 155
Whole exome sequencing identifies a rare variant in MAS1 gene in a subject with lethal COVID-19 152
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy. 124
Emerging Microorganisms and Infectious Diseases: One Health Approach for Health Shared Vision 119
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations 116
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 116
AN ADDITIONAL PATIENT WITH THE 3C SYNDROME 115
A GIRL WITH THE LUJAN-FRYNS SYNDROME 111
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases. 110
Chromosome 15 cryptic rearrangements in pervasive developmental disorders. 109
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome 107
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients 97
Genotype–phenotype correlations in relation to newly emerging monogenic forms of autism spectrum disorder and associated neurodevelopmental disorders: The importance of phenotype reevaluation after pangenomic results 92
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients 83
Beyond environmental risk: Genetic insights into lung cancer susceptibility through whole exome analysis 77
Rare Thrombophilic Variants in two Patients with Cerebral Venous Sinus Thrombosis after COVID-19 Vaccine Administration 70
Distinct neurological disorders with ATP1A3 mutations 67
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. 66
X-LINKED MENTAL-RETARDATION WITH MARFANOID HABITUS - 1ST REPORT OF 4 ITALIAN PATIENTS 66
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation 64
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 64
Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers 63
Identification of new candidate genes for spina bifida through exome sequencing. 62
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation 61
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements 58
Defective oxytocin function: a clue to understanding the cause of autism? 54
White matter and cerebellar involvement in alternating hemiplegia of childhood 52
Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome 52
DILATED CARDIOMYOPATHY IN THE SGB SYNDROME - REPLY 52
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene 51
SIMPSON-GOLABI-BEHMEL GENE IS CLOSELY LINKED TO HPRT IN XQ26 IN 2 EUROPEAN FAMILIES 51
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants 51
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study 51
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region 50
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 49
Oral-facial-digital syndromes: review and diagnostic guidelines 49
Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study 48
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series 48
EXCLUSION OF LINKAGE BETWEEN AUTOSOMAL-DOMINANT SPLIT HAND SPLIT FOOT AND MARKERS FROM CHROMOSOME 7Q - FURTHER EVIDENCE FOR GENETIC-HETEROGENEITY 45
RADX Gene Variant May Predispose to Familial Asperger Syndrome 44
New syndrome of mental retardation, Robin sequence, and brachydactyly 44
Severe chronic primary neutropenia: findings from a patient who underwent exstensive evaluation including adenosine deaminase 2 gene variant assessment 43
GENE FOR SIMPSON-GOLABI-BEHMEL SYNDROME IS LINKED TO HPRT IN XQ26 IN 2 EUROPEAN FAMILIES 43
Rearrangements of chromosome 15 in epilepsy 43
Functional characterization of tissue-specific enhancers in the DLX5/6 locus 43
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 43
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 42
Patologia perinatale dell'arto superiore 42
Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13 42
p63 mutations account for a range of congenital anomaly syndromes with a clear genotype phenotype correlation RID D-5697-2011 42
Results of a gene panel approach in a cohort of patients with incomplete distal renal tubular acidosis and nephrolithiasis 42
DNA Methylation in the Diagnosis of Monogenic Diseases 41
Working up autism: the practical role of medical genetics. 41
Recognizable facial features in patients with alternating hemiplegia of childhood. 41
Malattie da difetti dell'imprinting genomico 41
Meccanismi atipici di ereditarietà 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 40
PHYSICAL MAPPING OF THE HOLOPROSENCEPHALY CRITICAL REGION ON CHROMOSOME-7Q36 RID A-1081-2010 39
XLMR GENES - UPDATE 1990 39
FINE MAPPING OF THE AUTOSOMAL-DOMINANT SPLIT HAND SPLIT FOOT LOCUS ON CHROMOSOME-7, BAND Q21.3-Q22.1 RID A-1081-2010 39
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 39
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. 39
Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders 38
Exploring the Role of the MUTYH Gene in Breast, Ovarian and Endometrial Cancer 38
Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update 38
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder 38
Coding exons function as tissue-specific enhancers of nearby genes 38
X-linked Mental retardation: update 1991 38
Melkersson-Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants? 37
INTELLECTUAL DISABILITY SYNDROMES 37
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. 37
Defective loxytocin function: a clue to understanding the cause of autism? 37
NEW AUTOSOMAL RECESSIVE SYNDROME OF MENTAL-RETARDATION, EPILEPSY, SHORT STATURE, AND SKELETAL DYSPLASIA 36
FURTHER DELINEATION OF THE SIMPSON-GOLABI-BEHMEL (SGB) SYNDROME 36
Hypo-phosphorylation of salivary peptidome as a clue to the molecular pathogenesis of autism spectrum disorders 36
Genetic analysis of intellectual disability and autism 36
GENES FOR SPLIT HAND/SPLIT FOOT AND LATERALITY DEFECTS ON 7Q22.1 AND XQ24-Q27.1 35
No Correlation between X Chromosome Inactivation Pattern and Autistic Spectrum Disorders in an Italian Cohort of Patients 35
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 35
Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog. 35
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case 35
MOLECULAR MARKERS FOR AUTISM 35
Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome. 34
Totale 8.706
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Categoria #
all - tutte 62.459
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 62.459
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022171 0 1 4 4 3 0 0 0 9 1 0 149
2022/2023113 0 0 1 22 21 11 9 15 2 12 19 1
2023/2024542 22 62 23 48 59 201 7 35 10 40 19 16
2024/20255.007 50 43 146 44 40 156 88 17 325 269 1.929 1.900
2025/20263.966 370 170 188 352 180 239 1.278 266 361 311 186 65
Totale 9.799