IRIS
GURRIERI, FIORELLA
 Distribuzione geografica
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Continente #
AS - Asia 4.849
NA - Nord America 898
EU - Europa 533
SA - Sud America 32
OC - Oceania 30
AF - Africa 19
AN - Antartide 1
Continente sconosciuto - Info sul continente non disponibili 1
Totale 6.363
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Nazione #
SG - Singapore 4.091
US - Stati Uniti d'America 844
CN - Cina 492
GB - Regno Unito 166
HK - Hong Kong 152
IT - Italia 140
DE - Germania 66
CA - Canada 48
IN - India 37
JP - Giappone 29
AU - Australia 27
BR - Brasile 27
ES - Italia 20
NL - Olanda 20
EE - Estonia 17
FI - Finlandia 17
ZA - Sudafrica 12
CZ - Repubblica Ceca 11
FR - Francia 11
PL - Polonia 11
CH - Svizzera 10
TR - Turchia 10
UA - Ucraina 7
MX - Messico 6
ID - Indonesia 5
SE - Svezia 5
AT - Austria 4
HU - Ungheria 4
IR - Iran 4
AE - Emirati Arabi Uniti 3
BD - Bangladesh 3
BE - Belgio 3
BG - Bulgaria 3
JO - Giordania 3
LT - Lituania 3
PH - Filippine 3
PK - Pakistan 3
PT - Portogallo 3
SI - Slovenia 3
IL - Israele 2
KE - Kenya 2
QA - Qatar 2
RS - Serbia 2
SA - Arabia Saudita 2
AM - Armenia 1
AO - Angola 1
AR - Argentina 1
BO - Bolivia 1
CO - Colombia 1
CY - Cipro 1
DK - Danimarca 1
EC - Ecuador 1
EG - Egitto 1
GS - Georgia del Sud e Isole Sandwich Australi 1
HR - Croazia 1
IE - Irlanda 1
KH - Cambogia 1
KI - Kiribati 1
KR - Corea 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
LU - Lussemburgo 1
MD - Moldavia 1
MR - Mauritania 1
NZ - Nuova Zelanda 1
OM - Oman 1
PE - Perù 1
RO - Romania 1
RU - Federazione Russa 1
SC - Seychelles 1
TO - Tonga 1
TZ - Tanzania 1
VN - Vietnam 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 6.363
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Città #
Hefei 266
Singapore 249
Ashburn 206
Hong Kong 150
London 150
Boardman 148
Shanghai 92
Los Angeles 91
Beijing 88
Rome 75
Dallas 50
Munich 38
Council Bluffs 24
Pune 22
San Francisco 21
Amsterdam 17
Toronto 15
Washington 15
Shinchiba 14
Melbourne 12
Seattle 12
São Paulo 12
Boston 11
Brooklyn 11
Boydton 10
New York 10
Turku 10
Atlanta 9
Brno 9
Calgary 9
Santa Clara 8
Canberra 7
Chennai 7
Warsaw 7
Zurich 7
Frankfurt am Main 6
Helsinki 6
Paris 6
Secaucus 6
Tokyo 6
Chicago 5
Johannesburg 5
Redmond 5
Stockholm 5
Sydney 5
Ankara 4
Bari 4
Bologna 4
Budapest 4
Cambridge 4
Charlotte 4
Foggia 4
Madrid 4
Shenzhen 4
Amman 3
Buffalo 3
Changsha 3
Clifton 3
Denver 3
Kawasaki 3
Lamezia Terme 3
Ljubljana 3
Manchester 3
Mexico City 3
Nagasaki 3
San Jose 3
San Severo 3
St Louis 3
Surbiton 3
Tres Cantos 3
Vienna 3
Amer 2
Bangor 2
Basel 2
Belgrade 2
Brisbane 2
Chengdu 2
Dhaka 2
Doha 2
Gulfport 2
Hackensack 2
Halifax 2
Hengshui 2
Leivi 2
Leuven 2
Lodz 2
Makati City 2
Milan 2
Monte Vista 2
Nairobi 2
Newark 2
Phoenix 2
Piotrkow Trybunalski 2
Portimão 2
Salt Lake City 2
San Ramon 2
Santa Cruz das Palmeiras 2
Schalksmühle 2
Sherbrooke 2
Shijiazhuang 2
Totale 2.082
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Nome #
AUTS2-Related Neuropsychiatric Disorders with Intrafamilial Variability 318
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) 203
"MARCATORI MOLECOLARI PER L'AUTISMO" 197
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer? 195
A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing 193
A new susceptibility locus for migraine with aura in the 15q11-q13 genomic region containing three GABA-A receptor genes 191
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus 191
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. 189
Simultaneous presence of Brugada and overgrowth syndromes 187
Emerging from the Darkness. Sudden Cardiac Death in Cardiac Amyloidosis 185
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer 185
A split hand-split foot (SHFM3) gene is located at 10q24-->25 184
Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability 183
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 181
Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families 179
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome 179
Exome Profiling Suggests Combined Effect of Myeloperoxidase, Toll-Like Receptors, and Metallopeptidase in Hidradenitis Suppurativa 176
Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders 133
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy. 97
Whole exome sequencing identifies a rare variant in MAS1 gene in a subject with lethal COVID-19 96
AN ADDITIONAL PATIENT WITH THE 3C SYNDROME 87
Emerging Microorganisms and Infectious Diseases: One Health Approach for Health Shared Vision 85
Chromosome 15 cryptic rearrangements in pervasive developmental disorders. 85
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 85
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome 81
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases. 80
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations 79
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients 77
A GIRL WITH THE LUJAN-FRYNS SYNDROME 74
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 71
Rare Thrombophilic Variants in two Patients with Cerebral Venous Sinus Thrombosis after COVID-19 Vaccine Administration 51
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. 45
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study 36
Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study 30
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation 29
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series 28
Meccanismi atipici di ereditarietà 27
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 26
Functional characterization of tissue-specific enhancers in the DLX5/6 locus 25
Oral-facial-digital syndromes: review and diagnostic guidelines 25
p63 mutations account for a range of congenital anomaly syndromes with a clear genotype phenotype correlation RID D-5697-2011 25
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients 25
FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients 23
PHYSICAL MAPPING OF THE HOLOPROSENCEPHALY CRITICAL REGION ON CHROMOSOME-7Q36 RID A-1081-2010 23
Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog. 23
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants 23
Defective oxytocin function: a clue to understanding the cause of autism? 22
X-LINKED MENTAL-RETARDATION WITH MARFANOID HABITUS - 1ST REPORT OF 4 ITALIAN PATIENTS 22
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder 22
Coding exons function as tissue-specific enhancers of nearby genes 22
Malattie da difetti dell'imprinting genomico 22
Distinct neurological disorders with ATP1A3 mutations 22
Exploring the Role of the MUTYH Gene in Breast, Ovarian and Endometrial Cancer 21
White matter and cerebellar involvement in alternating hemiplegia of childhood 21
Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome 21
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 21
Results of a gene panel approach in a cohort of patients with incomplete distal renal tubular acidosis and nephrolithiasis 21
Beyond environmental risk: Genetic insights into lung cancer susceptibility through whole exome analysis 20
NEW AUTOSOMAL RECESSIVE SYNDROME OF MENTAL-RETARDATION, EPILEPSY, SHORT STATURE, AND SKELETAL DYSPLASIA 20
Rearrangements of chromosome 15 in epilepsy 20
XLMR GENES - UPDATE 1990 20
Hypo-phosphorylation of salivary peptidome as a clue to the molecular pathogenesis of autism spectrum disorders 20
INTELLECTUAL DISABILITY SYNDROMES 20
X-linked Mental retardation: update 1991 20
Genetic analysis of intellectual disability and autism 20
Defective loxytocin function: a clue to understanding the cause of autism? 20
GENES FOR SPLIT HAND/SPLIT FOOT AND LATERALITY DEFECTS ON 7Q22.1 AND XQ24-Q27.1 19
Working up autism: the practical role of medical genetics. 19
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 19
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation 19
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 19
DILATED CARDIOMYOPATHY IN THE SGB SYNDROME - REPLY 19
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. 19
Diagnostic strategies in overgrowth syndromesBoccuto 19
New syndrome of mental retardation, Robin sequence, and brachydactyly 19
ULNAR RAY DEFECT IN AN INFANT WITH A 6Q21-7Q31.2-TRANSLOCATION - FURTHER EVIDENCE FOR THE EXISTENCE OF A LIMB DEFECT GENE IN 6Q21 19
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. 19
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene 18
DNA Methylation in the Diagnosis of Monogenic Diseases 18
FURTHER DELINEATION OF THE SIMPSON-GOLABI-BEHMEL (SGB) SYNDROME 18
Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome. 18
No Correlation between X Chromosome Inactivation Pattern and Autistic Spectrum Disorders in an Italian Cohort of Patients 18
Diagnostic strategies in overgrowth syndromes 18
Structural and functional analysis of a growth-regulated gene, the human calcyclin. 18
The growth hormone response to exarelin in patients with Prader Willi syndrome 18
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 18
P63 mutations in the EEC, Hay-Wells, ADULT syndromes and in split hand/foot malformation reveals a genotype-phenotype correlation. RID D-5697-2011 18
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects 18
GENE FOR SIMPSON-GOLABI-BEHMEL SYNDROME IS LINKED TO HPRT IN XQ26 IN 2 EUROPEAN FAMILIES 17
Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update 17
Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects 17
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients 17
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements 17
Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3. 17
Recognizable facial features in patients with alternating hemiplegia of childhood. 17
Patologia perinatale dell'arto superiore 17
MOLECULAR MARKERS FOR AUTISM 17
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 17
Identification of new candidate genes for spina bifida through exome sequencing. 17
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region 17
Totale 5.938
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Categoria #
all - tutte 49.179
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 49.179
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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
2025/2026580 370 170 40 0 0 0 0 0 0 0 0 0
Totale 6.413