IRIS
GURRIERI, FIORELLA
 Distribuzione geografica
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Continente #
AS - Asia 5.799
NA - Nord America 2.141
EU - Europa 1.110
SA - Sud America 285
AF - Africa 56
OC - Oceania 31
AN - Antartide 1
Continente sconosciuto - Info sul continente non disponibili 1
Totale 9.424
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Nazione #
SG - Singapore 4.595
US - Stati Uniti d'America 2.057
CN - Cina 671
IT - Italia 510
BR - Brasile 216
HK - Hong Kong 195
GB - Regno Unito 176
FR - Francia 142
VN - Vietnam 84
DE - Germania 75
IN - India 65
CA - Canada 55
JP - Giappone 32
NL - Olanda 29
AU - Australia 28
ES - Italia 23
ID - Indonesia 23
TR - Turchia 22
AR - Argentina 20
FI - Finlandia 20
ZA - Sudafrica 20
BD - Bangladesh 19
MX - Messico 19
PL - Polonia 18
EE - Estonia 17
EC - Ecuador 16
RU - Federazione Russa 12
CH - Svizzera 11
CO - Colombia 11
CZ - Repubblica Ceca 11
IQ - Iraq 11
UA - Ucraina 10
CL - Cile 8
PK - Pakistan 8
PT - Portogallo 8
MY - Malesia 7
SA - Arabia Saudita 7
TN - Tunisia 7
BG - Bulgaria 6
LT - Lituania 6
MA - Marocco 6
PH - Filippine 6
SE - Svezia 6
JO - Giordania 5
TH - Thailandia 5
VE - Venezuela 5
AE - Emirati Arabi Uniti 4
AT - Austria 4
ET - Etiopia 4
HU - Ungheria 4
IR - Iran 4
KH - Cambogia 4
AZ - Azerbaigian 3
BE - Belgio 3
BO - Bolivia 3
KE - Kenya 3
KZ - Kazakistan 3
MD - Moldavia 3
OM - Oman 3
PE - Perù 3
QA - Qatar 3
SI - Slovenia 3
UZ - Uzbekistan 3
AL - Albania 2
BB - Barbados 2
CR - Costa Rica 2
EG - Egitto 2
GR - Grecia 2
IL - Israele 2
MM - Myanmar 2
NG - Nigeria 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
CY - Cipro 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
JM - Giamaica 1
KG - Kirghizistan 1
KI - Kiribati 1
KR - Corea 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
MR - Mauritania 1
Totale 9.408
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Città #
San Jose 740
Ashburn 522
Singapore 497
Rome 400
Hefei 267
Hong Kong 193
London 150
Boardman 149
Beijing 141
Lauterbourg 122
Los Angeles 93
Shanghai 92
Dallas 87
Munich 39
Ho Chi Minh City 28
Council Bluffs 26
São Paulo 25
Pune 22
San Francisco 22
New York 20
Amsterdam 18
Santa Clara 18
Toronto 16
Hanoi 15
Washington 15
Boydton 14
Brooklyn 14
Shinchiba 14
Melbourne 13
Atlanta 12
Seattle 12
Boston 11
Frankfurt am Main 11
Turku 11
Rio de Janeiro 10
Brno 9
Calgary 9
Chennai 9
Mexico City 9
Tokyo 9
Warsaw 9
Helsinki 8
Orem 8
Brasília 7
Canberra 7
Chicago 7
Guayaquil 7
Manchester 7
Paris 7
Quito 7
Zurich 7
Ankara 6
Baghdad 6
Belo Horizonte 6
Bologna 6
Lodz 6
Secaucus 6
Stockholm 6
Amman 5
Changsha 5
Chengdu 5
Da Nang 5
Denver 5
Dhaka 5
Jakarta 5
Johannesburg 5
Madrid 5
Milan 5
Redmond 5
Sydney 5
Addis Ababa 4
Bangkok 4
Bari 4
Budapest 4
Cambridge 4
Charlotte 4
Curitiba 4
Delhi 4
Eygelshoven 4
Foggia 4
Montreal 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
Hangzhou 3
Jeddah 3
Karachi 3
Kawasaki 3
Kuala Lumpur 3
Lamezia Terme 3
Ljubljana 3
Lucknow 3
Totale 4.170
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Nome #
AUTS2-Related Neuropsychiatric Disorders with Intrafamilial Variability 370
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) 244
"MARCATORI MOLECOLARI PER L'AUTISMO" 236
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer? 234
A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing 228
Emerging from the Darkness. Sudden Cardiac Death in Cardiac Amyloidosis 221
Exome Profiling Suggests Combined Effect of Myeloperoxidase, Toll-Like Receptors, and Metallopeptidase in Hidradenitis Suppurativa 221
A new susceptibility locus for migraine with aura in the 15q11-q13 genomic region containing three GABA-A receptor genes 221
Simultaneous presence of Brugada and overgrowth syndromes 220
Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families 216
A split hand-split foot (SHFM3) gene is located at 10q24-->25 216
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus 215
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. 214
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 211
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer 210
Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability 209
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome 199
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-19 151
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy. 119
Emerging Microorganisms and Infectious Diseases: One Health Approach for Health Shared Vision 116
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 115
AN ADDITIONAL PATIENT WITH THE 3C SYNDROME 112
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations 111
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases. 107
A GIRL WITH THE LUJAN-FRYNS SYNDROME 106
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome 106
Chromosome 15 cryptic rearrangements in pervasive developmental disorders. 104
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients 96
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 78
Beyond environmental risk: Genetic insights into lung cancer susceptibility through whole exome analysis 70
Rare Thrombophilic Variants in two Patients with Cerebral Venous Sinus Thrombosis after COVID-19 Vaccine Administration 69
X-LINKED MENTAL-RETARDATION WITH MARFANOID HABITUS - 1ST REPORT OF 4 ITALIAN PATIENTS 66
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 64
Distinct neurological disorders with ATP1A3 mutations 64
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. 62
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation 57
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation 56
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements 55
Identification of new candidate genes for spina bifida through exome sequencing. 52
Defective oxytocin function: a clue to understanding the cause of autism? 51
Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome 51
DILATED CARDIOMYOPATHY IN THE SGB SYNDROME - REPLY 50
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study 50
SIMPSON-GOLABI-BEHMEL GENE IS CLOSELY LINKED TO HPRT IN XQ26 IN 2 EUROPEAN FAMILIES 48
Oral-facial-digital syndromes: review and diagnostic guidelines 48
Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers 47
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series 47
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 47
Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study 46
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants 45
EXCLUSION OF LINKAGE BETWEEN AUTOSOMAL-DOMINANT SPLIT HAND SPLIT FOOT AND MARKERS FROM CHROMOSOME 7Q - FURTHER EVIDENCE FOR GENETIC-HETEROGENEITY 45
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region 45
RADX Gene Variant May Predispose to Familial Asperger Syndrome 44
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene 43
GENE FOR SIMPSON-GOLABI-BEHMEL SYNDROME IS LINKED TO HPRT IN XQ26 IN 2 EUROPEAN FAMILIES 42
Functional characterization of tissue-specific enhancers in the DLX5/6 locus 42
Working up autism: the practical role of medical genetics. 41
Malattie da difetti dell'imprinting genomico 41
Patologia perinatale dell'arto superiore 41
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 41
Results of a gene panel approach in a cohort of patients with incomplete distal renal tubular acidosis and nephrolithiasis 41
Severe chronic primary neutropenia: findings from a patient who underwent exstensive evaluation including adenosine deaminase 2 gene variant assessment 40
Rearrangements of chromosome 15 in epilepsy 40
Meccanismi atipici di ereditarietà 40
Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13 40
p63 mutations account for a range of congenital anomaly syndromes with a clear genotype phenotype correlation RID D-5697-2011 40
PHYSICAL MAPPING OF THE HOLOPROSENCEPHALY CRITICAL REGION ON CHROMOSOME-7Q36 RID A-1081-2010 39
Recognizable facial features in patients with alternating hemiplegia of childhood. 39
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 39
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
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 38
X-linked Mental retardation: update 1991 38
White matter and cerebellar involvement in alternating hemiplegia of childhood 38
Exploring the Role of the MUTYH Gene in Breast, Ovarian and Endometrial Cancer 37
DNA Methylation in the Diagnosis of Monogenic Diseases 37
Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update 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
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. 37
Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders 36
NEW AUTOSOMAL RECESSIVE SYNDROME OF MENTAL-RETARDATION, EPILEPSY, SHORT STATURE, AND SKELETAL DYSPLASIA 36
FURTHER DELINEATION OF THE SIMPSON-GOLABI-BEHMEL (SGB) SYNDROME 36
XLMR GENES - UPDATE 1990 36
INTELLECTUAL DISABILITY SYNDROMES 36
Genetic analysis of intellectual disability and autism 36
ULNAR RAY DEFECT IN AN INFANT WITH A 6Q21-7Q31.2-TRANSLOCATION - FURTHER EVIDENCE FOR THE EXISTENCE OF A LIMB DEFECT GENE IN 6Q21 36
Defective loxytocin function: a clue to understanding the cause of autism? 36
Melkersson-Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants? 35
GENES FOR SPLIT HAND/SPLIT FOOT AND LATERALITY DEFECTS ON 7Q22.1 AND XQ24-Q27.1 35
Hypo-phosphorylation of salivary peptidome as a clue to the molecular pathogenesis of autism spectrum disorders 35
MOLECULAR MARKERS FOR AUTISM 35
New syndrome of mental retardation, Robin sequence, and brachydactyly 35
Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome. 34
No Correlation between X Chromosome Inactivation Pattern and Autistic Spectrum Disorders in an Italian Cohort of Patients 34
FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients 34
Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects 34
Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog. 34
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case 34
Totale 8.423
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Categoria #
all - tutte 59.334
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 59.334
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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
2025/20263.642 370 170 188 352 180 239 1.278 266 361 238 0 0
Totale 9.475