IRIS
GURRIERI, FIORELLA
 Distribuzione geografica
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Continente #
AS - Asia 5.120
NA - Nord America 979
EU - Europa 555
SA - Sud America 165
OC - Oceania 31
AF - Africa 27
AN - Antartide 1
Continente sconosciuto - Info sul continente non disponibili 1
Totale 6.879
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Nazione #
SG - Singapore 4.218
US - Stati Uniti d'America 916
CN - Cina 558
GB - Regno Unito 168
HK - Hong Kong 152
IT - Italia 146
BR - Brasile 135
DE - Germania 68
VN - Vietnam 53
CA - Canada 49
IN - India 38
JP - Giappone 29
AU - Australia 28
NL - Olanda 21
ES - Italia 20
FI - Finlandia 18
EE - Estonia 17
ID - Indonesia 13
AR - Argentina 12
FR - Francia 12
PL - Polonia 12
ZA - Sudafrica 12
CZ - Repubblica Ceca 11
CH - Svizzera 10
TR - Turchia 10
MX - Messico 8
EC - Ecuador 7
UA - Ucraina 7
LT - Lituania 6
SE - Svezia 6
BD - Bangladesh 5
CO - Colombia 5
AT - Austria 4
BG - Bulgaria 4
HU - Ungheria 4
IR - Iran 4
JO - Giordania 4
PH - Filippine 4
PK - Pakistan 4
PT - Portogallo 4
AE - Emirati Arabi Uniti 3
BE - Belgio 3
IQ - Iraq 3
SA - Arabia Saudita 3
SI - Slovenia 3
CL - Cile 2
IL - Israele 2
KE - Kenya 2
KZ - Kazakistan 2
MA - Marocco 2
OM - Oman 2
QA - Qatar 2
RS - Serbia 2
RU - Federazione Russa 2
TN - Tunisia 2
AL - Albania 1
AM - Armenia 1
AO - Angola 1
BB - Barbados 1
BO - Bolivia 1
CR - Costa Rica 1
CY - Cipro 1
DK - Danimarca 1
EG - Egitto 1
GN - Guinea 1
GS - Georgia del Sud e Isole Sandwich Australi 1
GT - Guatemala 1
HR - Croazia 1
IE - Irlanda 1
KH - Cambogia 1
KI - Kiribati 1
KR - Corea 1
LA - Repubblica Popolare Democratica del Laos 1
LC - Santa Lucia 1
LK - Sri Lanka 1
LU - Lussemburgo 1
MD - Moldavia 1
MN - Mongolia 1
MR - Mauritania 1
MY - Malesia 1
NA - Namibia 1
NG - Nigeria 1
NI - Nicaragua 1
NP - Nepal 1
NZ - Nuova Zelanda 1
PE - Perù 1
PR - Porto Rico 1
PY - Paraguay 1
RO - Romania 1
SC - Seychelles 1
TH - Thailandia 1
TJ - Tagikistan 1
TO - Tonga 1
TZ - Tanzania 1
UG - Uganda 1
VE - Venezuela 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 6.879
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Città #
Singapore 371
Hefei 266
Ashburn 222
Hong Kong 150
London 150
Boardman 148
Beijing 112
Los Angeles 92
Shanghai 92
Dallas 85
Rome 79
Munich 38
Council Bluffs 24
Ho Chi Minh City 24
Pune 22
San Francisco 21
Amsterdam 18
São Paulo 18
Toronto 15
Washington 15
Shinchiba 14
Boydton 13
Melbourne 13
Brooklyn 12
New York 12
Seattle 12
Boston 11
Turku 11
Hanoi 10
Atlanta 9
Brno 9
Calgary 9
Frankfurt am Main 8
Santa Clara 8
Warsaw 8
Brasília 7
Canberra 7
Chennai 7
Chicago 7
Zurich 7
Helsinki 6
Paris 6
Rio de Janeiro 6
Secaucus 6
Stockholm 6
Tokyo 6
Johannesburg 5
Redmond 5
Sydney 5
Amman 4
Ankara 4
Bari 4
Bologna 4
Budapest 4
Cambridge 4
Charlotte 4
Dhaka 4
Foggia 4
Madrid 4
Manchester 4
Shenzhen 4
Buffalo 3
Changsha 3
Clifton 3
Denver 3
Guayaquil 3
Kawasaki 3
Lamezia Terme 3
Ljubljana 3
Mexico City 3
Milan 3
Nagasaki 3
Quito 3
Salvador 3
San Jose 3
San Severo 3
St Louis 3
Surbiton 3
Tres Cantos 3
Vienna 3
Amer 2
Astana 2
Bangor 2
Basel 2
Bauru 2
Belgrade 2
Belo Horizonte 2
Bogotá 2
Brisbane 2
Bắc Giang 2
Camaçari 2
Campinas 2
Can Tho 2
Carney 2
Chengdu 2
Doha 2
Gulfport 2
Hackensack 2
Haiphong 2
Halifax 2
Totale 2.352
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Nome #
AUTS2-Related Neuropsychiatric Disorders with Intrafamilial Variability 324
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) 205
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer? 201
"MARCATORI MOLECOLARI PER L'AUTISMO" 200
A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing 196
A new susceptibility locus for migraine with aura in the 15q11-q13 genomic region containing three GABA-A receptor genes 194
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus 194
Simultaneous presence of Brugada and overgrowth syndromes 193
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. 192
Exome Profiling Suggests Combined Effect of Myeloperoxidase, Toll-Like Receptors, and Metallopeptidase in Hidradenitis Suppurativa 190
Emerging from the Darkness. Sudden Cardiac Death in Cardiac Amyloidosis 187
Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability 187
A split hand-split foot (SHFM3) gene is located at 10q24-->25 187
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer 187
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome 183
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 182
Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families 182
Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders 137
Whole exome sequencing identifies a rare variant in MAS1 gene in a subject with lethal COVID-19 102
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy. 99
AN ADDITIONAL PATIENT WITH THE 3C SYNDROME 92
Chromosome 15 cryptic rearrangements in pervasive developmental disorders. 88
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 88
Emerging Microorganisms and Infectious Diseases: One Health Approach for Health Shared Vision 87
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations 85
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome 84
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases. 82
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients 78
A GIRL WITH THE LUJAN-FRYNS SYNDROME 75
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 74
Rare Thrombophilic Variants in two Patients with Cerebral Venous Sinus Thrombosis after COVID-19 Vaccine Administration 53
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients 46
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. 45
DILATED CARDIOMYOPATHY IN THE SGB SYNDROME - REPLY 38
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study 36
Beyond environmental risk: Genetic insights into lung cancer susceptibility through whole exome analysis 35
Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome 35
Distinct neurological disorders with ATP1A3 mutations 35
Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study 33
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation 33
SIMPSON-GOLABI-BEHMEL GENE IS CLOSELY LINKED TO HPRT IN XQ26 IN 2 EUROPEAN FAMILIES 33
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region 33
EXCLUSION OF LINKAGE BETWEEN AUTOSOMAL-DOMINANT SPLIT HAND SPLIT FOOT AND MARKERS FROM CHROMOSOME 7Q - FURTHER EVIDENCE FOR GENETIC-HETEROGENEITY 32
RADX Gene Variant May Predispose to Familial Asperger Syndrome 31
Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers 31
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene 30
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series 30
Patologia perinatale dell'arto superiore 29
Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13 29
Functional characterization of tissue-specific enhancers in the DLX5/6 locus 28
Meccanismi atipici di ereditarietà 28
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 27
p63 mutations account for a range of congenital anomaly syndromes with a clear genotype phenotype correlation RID D-5697-2011 27
Oral-facial-digital syndromes: review and diagnostic guidelines 26
Defective oxytocin function: a clue to understanding the cause of autism? 25
PHYSICAL MAPPING OF THE HOLOPROSENCEPHALY CRITICAL REGION ON CHROMOSOME-7Q36 RID A-1081-2010 25
X-LINKED MENTAL-RETARDATION WITH MARFANOID HABITUS - 1ST REPORT OF 4 ITALIAN PATIENTS 25
Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog. 25
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants 25
Exploring the Role of the MUTYH Gene in Breast, Ovarian and Endometrial Cancer 24
Rearrangements of chromosome 15 in epilepsy 24
FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients 24
X-linked Mental retardation: update 1991 24
Malattie da difetti dell'imprinting genomico 24
NEW AUTOSOMAL RECESSIVE SYNDROME OF MENTAL-RETARDATION, EPILEPSY, SHORT STATURE, AND SKELETAL DYSPLASIA 23
Working up autism: the practical role of medical genetics. 23
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder 23
Coding exons function as tissue-specific enhancers of nearby genes 23
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 23
Results of a gene panel approach in a cohort of patients with incomplete distal renal tubular acidosis and nephrolithiasis 23
Severe chronic primary neutropenia: findings from a patient who underwent exstensive evaluation including adenosine deaminase 2 gene variant assessment 22
GENES FOR SPLIT HAND/SPLIT FOOT AND LATERALITY DEFECTS ON 7Q22.1 AND XQ24-Q27.1 22
FURTHER DELINEATION OF THE SIMPSON-GOLABI-BEHMEL (SGB) SYNDROME 22
XLMR GENES - UPDATE 1990 22
Hypo-phosphorylation of salivary peptidome as a clue to the molecular pathogenesis of autism spectrum disorders 22
White matter and cerebellar involvement in alternating hemiplegia of childhood 22
Genetic analysis of intellectual disability and autism 22
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 22
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 22
New syndrome of mental retardation, Robin sequence, and brachydactyly 22
GENE FOR SIMPSON-GOLABI-BEHMEL SYNDROME IS LINKED TO HPRT IN XQ26 IN 2 EUROPEAN FAMILIES 21
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 21
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements 21
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation 21
INTELLECTUAL DISABILITY SYNDROMES 21
Defective loxytocin function: a clue to understanding the cause of autism? 21
Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders 20
DNA Methylation in the Diagnosis of Monogenic Diseases 20
Identification of new candidate genes for spina bifida through exome sequencing. 20
P63 mutations in the EEC, Hay-Wells, ADULT syndromes and in split hand/foot malformation reveals a genotype-phenotype correlation. RID D-5697-2011 20
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. 20
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects 20
ULNAR RAY DEFECT IN AN INFANT WITH A 6Q21-7Q31.2-TRANSLOCATION - FURTHER EVIDENCE FOR THE EXISTENCE OF A LIMB DEFECT GENE IN 6Q21 20
Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome. 19
No Correlation between X Chromosome Inactivation Pattern and Autistic Spectrum Disorders in an Italian Cohort of Patients 19
Structural and functional analysis of a growth-regulated gene, the human calcyclin. 19
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients 19
The growth hormone response to exarelin in patients with Prader Willi syndrome 19
Diagnostic strategies in overgrowth syndromesBoccuto 19
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. 19
Totale 6.360
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Categoria #
all - tutte 53.729
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 53.729
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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
2025/20261.097 370 170 188 352 17 0 0 0 0 0 0 0
Totale 6.930