IRIS
GURRIERI, FIORELLA
 Distribuzione geografica
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Continente #
AS - Asia 5.933
NA - Nord America 3.362
EU - Europa 1.275
SA - Sud America 316
AF - Africa 59
Continente sconosciuto - Info sul continente non disponibili 56
OC - Oceania 34
AN - Antartide 1
Totale 11.036
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Nazione #
SG - Singapore 4.627
US - Stati Uniti d'America 3.231
CN - Cina 710
IT - Italia 641
BR - Brasile 226
HK - Hong Kong 202
GB - Regno Unito 191
FR - Francia 144
VN - Vietnam 89
DE - Germania 76
CA - Canada 74
IN - India 65
BD - Bangladesh 51
JP - Giappone 32
AU - Australia 31
NL - Olanda 31
ID - Indonesia 26
CO - Colombia 24
ES - Italia 23
MX - Messico 22
TR - Turchia 22
AR - Argentina 20
FI - Finlandia 20
ZA - Sudafrica 20
EC - Ecuador 19
PL - Polonia 19
EE - Estonia 17
RU - Federazione Russa 14
CH - Svizzera 11
CZ - Repubblica Ceca 11
IQ - Iraq 11
MD - Moldavia 10
PH - Filippine 10
UA - Ucraina 10
CL - Cile 9
MY - Malesia 9
PK - Pakistan 9
PT - Portogallo 9
VE - Venezuela 9
CR - Costa Rica 8
SA - Arabia Saudita 7
TH - Thailandia 7
TN - Tunisia 7
BG - Bulgaria 6
LT - Lituania 6
MA - Marocco 6
SE - Svezia 6
AE - Emirati Arabi Uniti 5
JO - Giordania 5
AT - Austria 4
ET - Etiopia 4
GT - Guatemala 4
HN - Honduras 4
HU - Ungheria 4
IR - Iran 4
JM - Giamaica 4
KH - Cambogia 4
UZ - Uzbekistan 4
AZ - Azerbaigian 3
BE - Belgio 3
BO - Bolivia 3
CY - Cipro 3
EG - Egitto 3
KE - Kenya 3
KZ - Kazakistan 3
OM - Oman 3
PE - Perù 3
PR - Porto Rico 3
QA - Qatar 3
RS - Serbia 3
SC - Seychelles 3
SI - Slovenia 3
TT - Trinidad e Tobago 3
AL - Albania 2
AM - Armenia 2
BB - Barbados 2
GR - Grecia 2
HR - Croazia 2
IE - Irlanda 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
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
KG - Kirghizistan 1
KI - Kiribati 1
Totale 10.961
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Città #
San Jose 812
Ashburn 722
Singapore 503
Rome 420
Hefei 267
Hong Kong 200
Council Bluffs 167
London 152
Boardman 149
Beijing 148
Columbus 140
Lauterbourg 122
Los Angeles 105
Dallas 97
Shanghai 92
Phoenix 55
New York 45
Santa Clara 40
Munich 39
Ho Chi Minh City 31
São Paulo 25
San Francisco 24
Pune 22
Atlanta 20
Amsterdam 19
Toronto 19
Brooklyn 18
Washington 16
Hanoi 15
Boydton 14
Denver 14
Naples 14
Seattle 14
Shinchiba 14
Chicago 13
Las Vegas 13
Melbourne 13
Boston 12
Milan 12
Frankfurt am Main 11
Mexico City 11
Turku 11
Rio de Janeiro 10
Bologna 9
Brasília 9
Brno 9
Calgary 9
Chennai 9
Manchester 9
Quito 9
Tokyo 9
Warsaw 9
Bari 8
Charlotte 8
Guayaquil 8
Helsinki 8
Orem 8
San José 8
Canberra 7
Montreal 7
Paris 7
Turin 7
Zurich 7
Ankara 6
Baghdad 6
Belo Horizonte 6
Dhaka 6
Lodz 6
Madrid 6
Queens 6
Secaucus 6
St Louis 6
Stockholm 6
Sydney 6
Amman 5
Bangkok 5
Bogotá 5
Buffalo 5
Changsha 5
Chengdu 5
Da Nang 5
Jakarta 5
Johannesburg 5
Philadelphia 5
Piscataway 5
Redmond 5
Addis Ababa 4
Budapest 4
Cagliari 4
Cambridge 4
Cincinnati 4
Curitiba 4
Delhi 4
Eygelshoven 4
Florence 4
Foggia 4
Hangzhou 4
Manila 4
Medellín 4
Oklahoma City 4
Totale 5.006
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Nome #
AUTS2-Related Neuropsychiatric Disorders with Intrafamilial Variability 408
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 272
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) 267
Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability 247
"MARCATORI MOLECOLARI PER L'AUTISMO" 244
Exome Profiling Suggests Combined Effect of Myeloperoxidase, Toll-Like Receptors, and Metallopeptidase in Hidradenitis Suppurativa 242
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer? 241
Simultaneous presence of Brugada and overgrowth syndromes 237
Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families 237
A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing 237
A split hand-split foot (SHFM3) gene is located at 10q24-->25 234
Emerging from the Darkness. Sudden Cardiac Death in Cardiac Amyloidosis 232
A new susceptibility locus for migraine with aura in the 15q11-q13 genomic region containing three GABA-A receptor genes 232
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. 227
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus 225
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome 222
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer 216
Whole exome sequencing identifies a rare variant in MAS1 gene in a subject with lethal COVID-19 173
Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders 163
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations 145
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy. 136
Emerging Microorganisms and Infectious Diseases: One Health Approach for Health Shared Vision 133
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 133
AN ADDITIONAL PATIENT WITH THE 3C SYNDROME 122
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases. 122
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome 118
A GIRL WITH THE LUJAN-FRYNS SYNDROME 117
Chromosome 15 cryptic rearrangements in pervasive developmental disorders. 116
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients 107
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 105
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients 100
Beyond environmental risk: Genetic insights into lung cancer susceptibility through whole exome analysis 95
Distinct neurological disorders with ATP1A3 mutations 89
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation 83
Rare Thrombophilic Variants in two Patients with Cerebral Venous Sinus Thrombosis after COVID-19 Vaccine Administration 80
Identification of new candidate genes for spina bifida through exome sequencing. 72
Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers 71
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 71
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. 70
X-LINKED MENTAL-RETARDATION WITH MARFANOID HABITUS - 1ST REPORT OF 4 ITALIAN PATIENTS 70
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation 70
Defective oxytocin function: a clue to understanding the cause of autism? 68
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements 63
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants 63
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 63
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region 62
SIMPSON-GOLABI-BEHMEL GENE IS CLOSELY LINKED TO HPRT IN XQ26 IN 2 EUROPEAN FAMILIES 60
White matter and cerebellar involvement in alternating hemiplegia of childhood 60
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study 58
RADX Gene Variant May Predispose to Familial Asperger Syndrome 57
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene 57
DILATED CARDIOMYOPATHY IN THE SGB SYNDROME - REPLY 57
Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome 56
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series 55
New syndrome of mental retardation, Robin sequence, and brachydactyly 55
Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study 54
Oral-facial-digital syndromes: review and diagnostic guidelines 54
Melkersson-Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants? 53
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 52
Results of a gene panel approach in a cohort of patients with incomplete distal renal tubular acidosis and nephrolithiasis 52
DNA Methylation in the Diagnosis of Monogenic Diseases 51
Recognizable facial features in patients with alternating hemiplegia of childhood. 51
EXCLUSION OF LINKAGE BETWEEN AUTOSOMAL-DOMINANT SPLIT HAND SPLIT FOOT AND MARKERS FROM CHROMOSOME 7Q - FURTHER EVIDENCE FOR GENETIC-HETEROGENEITY 51
Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13 51
ULNAR RAY DEFECT IN AN INFANT WITH A 6Q21-7Q31.2-TRANSLOCATION - FURTHER EVIDENCE FOR THE EXISTENCE OF A LIMB DEFECT GENE IN 6Q21 51
Severe chronic primary neutropenia: findings from a patient who underwent exstensive evaluation including adenosine deaminase 2 gene variant assessment 50
GENE FOR SIMPSON-GOLABI-BEHMEL SYNDROME IS LINKED TO HPRT IN XQ26 IN 2 EUROPEAN FAMILIES 50
Genetic analysis of intellectual disability and autism 50
Functional characterization of tissue-specific enhancers in the DLX5/6 locus 49
Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update 48
Rearrangements of chromosome 15 in epilepsy 48
p63 mutations account for a range of congenital anomaly syndromes with a clear genotype phenotype correlation RID D-5697-2011 48
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. 48
FURTHER DELINEATION OF THE SIMPSON-GOLABI-BEHMEL (SGB) SYNDROME 47
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 47
Malattie da difetti dell'imprinting genomico 47
Patologia perinatale dell'arto superiore 47
Working up autism: the practical role of medical genetics. 46
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder 46
X-linked Mental retardation: update 1991 45
Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders 44
XLMR GENES - UPDATE 1990 44
Mowat-Wilson Syndrome: Facial Phenotype Changing With Age: Study of 19 Italian Patients and Review of the Literature 44
INTELLECTUAL DISABILITY SYNDROMES 44
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 44
NEW AUTOSOMAL RECESSIVE SYNDROME OF MENTAL-RETARDATION, EPILEPSY, SHORT STATURE, AND SKELETAL DYSPLASIA 43
Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects 43
Coding exons function as tissue-specific enhancers of nearby genes 43
FINE MAPPING OF THE AUTOSOMAL-DOMINANT SPLIT HAND SPLIT FOOT LOCUS ON CHROMOSOME-7, BAND Q21.3-Q22.1 RID A-1081-2010 43
Meccanismi atipici di ereditarietà 43
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. 43
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects 43
GENES FOR SPLIT HAND/SPLIT FOOT AND LATERALITY DEFECTS ON 7Q22.1 AND XQ24-Q27.1 42
PHYSICAL MAPPING OF THE HOLOPROSENCEPHALY CRITICAL REGION ON CHROMOSOME-7Q36 RID A-1081-2010 42
The growth hormone response to exarelin in patients with Prader Willi syndrome 42
Defective loxytocin function: a clue to understanding the cause of autism? 42
Exploring the Role of the MUTYH Gene in Breast, Ovarian and Endometrial Cancer 41
No Correlation between X Chromosome Inactivation Pattern and Autistic Spectrum Disorders in an Italian Cohort of Patients 41
Hypo-phosphorylation of salivary peptidome as a clue to the molecular pathogenesis of autism spectrum disorders 41
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients 41
Totale 9.704
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Categoria #
all - tutte 68.949
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 68.949
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022166 0 0 0 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
2026/20271.181 64 500 416 201 0 0 0 0 0 0 0 0
Totale 11.036