IRIS
GURRIERI, FIORELLA
 Distribuzione geografica
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Continente #
AS - Asia 5.907
NA - Nord America 2.726
EU - Europa 1.202
SA - Sud America 291
AF - Africa 57
Continente sconosciuto - Info sul continente non disponibili 56
OC - Oceania 34
AN - Antartide 1
Totale 10.274
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Nazione #
SG - Singapore 4.622
US - Stati Uniti d'America 2.612
CN - Cina 706
IT - Italia 581
BR - Brasile 219
HK - Hong Kong 200
GB - Regno Unito 181
FR - Francia 143
VN - Vietnam 85
DE - Germania 76
CA - Canada 70
IN - India 65
BD - Bangladesh 51
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 19
EE - Estonia 17
EC - Ecuador 16
RU - Federazione Russa 14
CO - Colombia 12
CH - Svizzera 11
CZ - Repubblica Ceca 11
IQ - Iraq 11
MD - Moldavia 10
UA - Ucraina 10
CL - Cile 9
PT - Portogallo 9
MY - Malesia 8
PK - Pakistan 8
PH - Filippine 7
SA - Arabia Saudita 7
TN - Tunisia 7
BG - Bulgaria 6
LT - Lituania 6
MA - Marocco 6
SE - Svezia 6
VE - Venezuela 6
AE - Emirati Arabi Uniti 5
JO - Giordania 5
TH - Thailandia 5
AT - Austria 4
CR - Costa Rica 4
ET - Etiopia 4
HU - Ungheria 4
IR - Iran 4
KH - Cambogia 4
AZ - Azerbaigian 3
BE - Belgio 3
BO - Bolivia 3
CY - Cipro 3
EG - Egitto 3
GT - Guatemala 3
JM - Giamaica 3
KE - Kenya 3
KZ - Kazakistan 3
OM - Oman 3
PE - Perù 3
PR - Porto Rico 3
QA - Qatar 3
RS - Serbia 3
SI - Slovenia 3
UZ - Uzbekistan 3
AL - Albania 2
BB - Barbados 2
GR - Grecia 2
HN - Honduras 2
HR - Croazia 2
IL - Israele 2
KR - Corea 2
MM - Myanmar 2
NG - Nigeria 2
NI - Nicaragua 2
NP - Nepal 2
PY - Paraguay 2
TW - Taiwan 2
VC - Saint Vincent e Grenadine 2
AM - Armenia 1
AO - Angola 1
BA - Bosnia-Erzegovina 1
BQ - ???statistics.table.value.countryCode.BQ??? 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
CV - Capo Verde 1
DK - Danimarca 1
GN - Guinea 1
GP - Guadalupe 1
GS - Georgia del Sud e Isole Sandwich Australi 1
IE - Irlanda 1
KG - Kirghizistan 1
KI - Kiribati 1
KW - Kuwait 1
LA - Repubblica Popolare Democratica del Laos 1
Totale 10.200
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Città #
San Jose 812
Ashburn 552
Singapore 500
Rome 414
Hefei 267
Hong Kong 198
Council Bluffs 163
London 152
Boardman 149
Beijing 144
Columbus 139
Lauterbourg 122
Los Angeles 98
Dallas 95
Shanghai 92
New York 41
Munich 39
Santa Clara 30
Ho Chi Minh City 29
São Paulo 25
San Francisco 24
Pune 22
Toronto 19
Amsterdam 18
Washington 16
Brooklyn 15
Hanoi 15
Atlanta 14
Boydton 14
Shinchiba 14
Melbourne 13
Las Vegas 12
Seattle 12
Boston 11
Frankfurt am Main 11
Milan 11
Turku 11
Chicago 10
Mexico City 10
Rio de Janeiro 10
Brno 9
Calgary 9
Chennai 9
Tokyo 9
Warsaw 9
Helsinki 8
Orem 8
Bologna 7
Brasília 7
Canberra 7
Guayaquil 7
Manchester 7
Montreal 7
Paris 7
Quito 7
Zurich 7
Ankara 6
Baghdad 6
Bari 6
Belo Horizonte 6
Dhaka 6
Lodz 6
Secaucus 6
Stockholm 6
Sydney 6
Turin 6
Amman 5
Changsha 5
Charlotte 5
Chengdu 5
Da Nang 5
Denver 5
Jakarta 5
Johannesburg 5
Madrid 5
Redmond 5
Addis Ababa 4
Bangkok 4
Budapest 4
Buffalo 4
Cambridge 4
Curitiba 4
Delhi 4
Eygelshoven 4
Florence 4
Foggia 4
Hangzhou 4
Manila 4
Naples 4
Porto Alegre 4
San José 4
Shenzhen 4
St Louis 4
Belgrade 3
Biên Hòa 3
Campinas 3
Can Tho 3
Cincinnati 3
Clifton 3
Concepción 3
Totale 4.666
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Nome #
AUTS2-Related Neuropsychiatric Disorders with Intrafamilial Variability 391
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 263
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) 256
"MARCATORI MOLECOLARI PER L'AUTISMO" 241
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer? 237
Exome Profiling Suggests Combined Effect of Myeloperoxidase, Toll-Like Receptors, and Metallopeptidase in Hidradenitis Suppurativa 236
A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing 233
A split hand-split foot (SHFM3) gene is located at 10q24-->25 228
Emerging from the Darkness. Sudden Cardiac Death in Cardiac Amyloidosis 226
Simultaneous presence of Brugada and overgrowth syndromes 225
A new susceptibility locus for migraine with aura in the 15q11-q13 genomic region containing three GABA-A receptor genes 223
Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families 222
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus 221
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. 218
Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability 217
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer 214
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome 208
Whole exome sequencing identifies a rare variant in MAS1 gene in a subject with lethal COVID-19 158
Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders 157
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations 131
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy. 127
Emerging Microorganisms and Infectious Diseases: One Health Approach for Health Shared Vision 122
AN ADDITIONAL PATIENT WITH THE 3C SYNDROME 119
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 119
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases. 115
A GIRL WITH THE LUJAN-FRYNS SYNDROME 114
Chromosome 15 cryptic rearrangements in pervasive developmental disorders. 113
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome 110
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients 101
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 95
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients 89
Beyond environmental risk: Genetic insights into lung cancer susceptibility through whole exome analysis 81
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation 75
Distinct neurological disorders with ATP1A3 mutations 73
Rare Thrombophilic Variants in two Patients with Cerebral Venous Sinus Thrombosis after COVID-19 Vaccine Administration 72
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. 68
X-LINKED MENTAL-RETARDATION WITH MARFANOID HABITUS - 1ST REPORT OF 4 ITALIAN PATIENTS 68
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 67
Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers 66
Identification of new candidate genes for spina bifida through exome sequencing. 66
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation 64
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements 60
White matter and cerebellar involvement in alternating hemiplegia of childhood 57
Defective oxytocin function: a clue to understanding the cause of autism? 56
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants 56
DILATED CARDIOMYOPATHY IN THE SGB SYNDROME - REPLY 56
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene 54
SIMPSON-GOLABI-BEHMEL GENE IS CLOSELY LINKED TO HPRT IN XQ26 IN 2 EUROPEAN FAMILIES 54
Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome 54
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region 54
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study 54
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 53
Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study 51
Oral-facial-digital syndromes: review and diagnostic guidelines 51
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series 50
EXCLUSION OF LINKAGE BETWEEN AUTOSOMAL-DOMINANT SPLIT HAND SPLIT FOOT AND MARKERS FROM CHROMOSOME 7Q - FURTHER EVIDENCE FOR GENETIC-HETEROGENEITY 49
RADX Gene Variant May Predispose to Familial Asperger Syndrome 47
Severe chronic primary neutropenia: findings from a patient who underwent exstensive evaluation including adenosine deaminase 2 gene variant assessment 47
GENE FOR SIMPSON-GOLABI-BEHMEL SYNDROME IS LINKED TO HPRT IN XQ26 IN 2 EUROPEAN FAMILIES 47
Functional characterization of tissue-specific enhancers in the DLX5/6 locus 47
New syndrome of mental retardation, Robin sequence, and brachydactyly 47
Rearrangements of chromosome 15 in epilepsy 46
Malattie da difetti dell'imprinting genomico 45
Patologia perinatale dell'arto superiore 45
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 45
DNA Methylation in the Diagnosis of Monogenic Diseases 44
Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update 44
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 44
Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13 44
p63 mutations account for a range of congenital anomaly syndromes with a clear genotype phenotype correlation RID D-5697-2011 44
Results of a gene panel approach in a cohort of patients with incomplete distal renal tubular acidosis and nephrolithiasis 44
Melkersson-Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants? 43
Working up autism: the practical role of medical genetics. 43
Recognizable facial features in patients with alternating hemiplegia of childhood. 43
XLMR GENES - UPDATE 1990 42
FINE MAPPING OF THE AUTOSOMAL-DOMINANT SPLIT HAND SPLIT FOOT LOCUS ON CHROMOSOME-7, BAND Q21.3-Q22.1 RID A-1081-2010 42
Meccanismi atipici di ereditarietà 42
ULNAR RAY DEFECT IN AN INFANT WITH A 6Q21-7Q31.2-TRANSLOCATION - FURTHER EVIDENCE FOR THE EXISTENCE OF A LIMB DEFECT GENE IN 6Q21 42
PHYSICAL MAPPING OF THE HOLOPROSENCEPHALY CRITICAL REGION ON CHROMOSOME-7Q36 RID A-1081-2010 41
Coding exons function as tissue-specific enhancers of nearby genes 41
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 41
X-linked Mental retardation: update 1991 41
Genetic analysis of intellectual disability and autism 41
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. 41
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. 41
Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders 40
Exploring the Role of the MUTYH Gene in Breast, Ovarian and Endometrial Cancer 40
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder 40
INTELLECTUAL DISABILITY SYNDROMES 40
Defective loxytocin function: a clue to understanding the cause of autism? 40
FURTHER DELINEATION OF THE SIMPSON-GOLABI-BEHMEL (SGB) SYNDROME 39
Hypo-phosphorylation of salivary peptidome as a clue to the molecular pathogenesis of autism spectrum disorders 39
GENES FOR SPLIT HAND/SPLIT FOOT AND LATERALITY DEFECTS ON 7Q22.1 AND XQ24-Q27.1 38
NEW AUTOSOMAL RECESSIVE SYNDROME OF MENTAL-RETARDATION, EPILEPSY, SHORT STATURE, AND SKELETAL DYSPLASIA 38
Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome. 38
No Correlation between X Chromosome Inactivation Pattern and Autistic Spectrum Disorders in an Italian Cohort of Patients 38
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case 38
The growth hormone response to exarelin in patients with Prader Willi syndrome 38
MOLECULAR MARKERS FOR AUTISM 38
FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients 37
Totale 9.083
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Categoria #
all - tutte 65.627
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 65.627
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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
2025/20264.022 370 170 188 352 180 239 1.278 266 361 311 186 121
2026/2027419 64 355 0 0 0 0 0 0 0 0 0 0
Totale 10.274