IRIS
GURRIERI, FIORELLA
 Distribuzione geografica
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Continente #
AS - Asia 4.543
NA - Nord America 702
EU - Europa 492
OC - Oceania 25
SA - Sud America 16
AF - Africa 10
AN - Antartide 1
Totale 5.789
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Nazione #
SG - Singapore 4.065
US - Stati Uniti d'America 664
CN - Cina 261
GB - Regno Unito 161
IT - Italia 137
HK - Hong Kong 126
DE - Germania 55
CA - Canada 36
IN - India 29
JP - Giappone 25
AU - Australia 23
NL - Olanda 19
EE - Estonia 17
FI - Finlandia 16
ES - Italia 15
BR - Brasile 12
CZ - Repubblica Ceca 11
FR - Francia 10
CH - Svizzera 8
PL - Polonia 8
TR - Turchia 8
ZA - Sudafrica 7
UA - Ucraina 6
ID - Indonesia 5
HU - Ungheria 4
AT - Austria 3
BE - Belgio 3
IR - Iran 3
JO - Giordania 3
PK - Pakistan 3
PT - Portogallo 3
SI - Slovenia 3
BD - Bangladesh 2
KE - Kenya 2
MX - Messico 2
PH - Filippine 2
QA - Qatar 2
RS - Serbia 2
SE - Svezia 2
AE - Emirati Arabi Uniti 1
AM - Armenia 1
AR - Argentina 1
BG - Bulgaria 1
BO - Bolivia 1
CO - Colombia 1
CY - Cipro 1
DK - Danimarca 1
EG - Egitto 1
GS - Georgia del Sud e Isole Sandwich Australi 1
HR - Croazia 1
IE - Irlanda 1
IL - Israele 1
KH - Cambogia 1
KI - Kiribati 1
KR - Corea 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
LT - Lituania 1
LU - Lussemburgo 1
MD - Moldavia 1
NZ - Nuova Zelanda 1
PE - Perù 1
RO - Romania 1
RU - Federazione Russa 1
SA - Arabia Saudita 1
Totale 5.789
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Città #
Singapore 239
Ashburn 177
Boardman 148
London 147
Hefei 134
Hong Kong 124
Shanghai 91
Los Angeles 81
Rome 73
Munich 30
Pune 22
Council Bluffs 19
San Francisco 17
Amsterdam 16
Shinchiba 14
Toronto 13
Washington 13
Seattle 12
Turku 10
Boydton 9
Brno 9
Melbourne 9
Canberra 7
São Paulo 7
Atlanta 6
Calgary 6
Frankfurt am Main 6
Paris 6
Zurich 6
Boston 5
Helsinki 5
New York 5
Redmond 5
Santa Clara 5
Bari 4
Bologna 4
Brooklyn 4
Budapest 4
Cambridge 4
Foggia 4
Madrid 4
Shenzhen 4
Sydney 4
Warsaw 4
Amman 3
Buffalo 3
Clifton 3
Dallas 3
Denver 3
Kawasaki 3
Lamezia Terme 3
Ljubljana 3
Manchester 3
Nagasaki 3
San Severo 3
St Louis 3
Surbiton 3
Tres Cantos 3
Vienna 3
Amer 2
Ankara 2
Bangor 2
Basel 2
Beijing 2
Belgrade 2
Brisbane 2
Changsha 2
Charlotte 2
Chengdu 2
Chennai 2
Chicago 2
Dhaka 2
Doha 2
Gulfport 2
Hackensack 2
Halifax 2
Leivi 2
Leuven 2
Lodz 2
Makati City 2
Mexico City 2
Milan 2
Monte Vista 2
Nairobi 2
Newark 2
Piotrkow Trybunalski 2
Portimão 2
San Jose 2
San Ramon 2
Santa Cruz das Palmeiras 2
Schalksmühle 2
Secaucus 2
Sherbrooke 2
Stockholm 2
Tallinn 2
Tehran 2
Tokyo 2
Torre Annunziata 2
Tulsa 2
Bogotá 1
Totale 1.642
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Nome #
AUTS2-Related Neuropsychiatric Disorders with Intrafamilial Variability 309
"MARCATORI MOLECOLARI PER L'AUTISMO" 193
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) 193
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus 187
A new susceptibility locus for migraine with aura in the 15q11-q13 genomic region containing three GABA-A receptor genes 185
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. 185
A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing 185
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer? 182
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer 181
Emerging from the Darkness. Sudden Cardiac Death in Cardiac Amyloidosis 179
A split hand-split foot (SHFM3) gene is located at 10q24-->25 179
Simultaneous presence of Brugada and overgrowth syndromes 177
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 176
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome 176
Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability 175
Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families 174
Exome Profiling Suggests Combined Effect of Myeloperoxidase, Toll-Like Receptors, and Metallopeptidase in Hidradenitis Suppurativa 170
Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders 128
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy. 92
Whole exome sequencing identifies a rare variant in MAS1 gene in a subject with lethal COVID-19 91
AN ADDITIONAL PATIENT WITH THE 3C SYNDROME 82
Chromosome 15 cryptic rearrangements in pervasive developmental disorders. 82
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 79
Emerging Microorganisms and Infectious Diseases: One Health Approach for Health Shared Vision 78
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations 76
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases. 76
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome 76
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients 72
A GIRL WITH THE LUJAN-FRYNS SYNDROME 71
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 66
Rare Thrombophilic Variants in two Patients with Cerebral Venous Sinus Thrombosis after COVID-19 Vaccine Administration 47
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. 40
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study 30
Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study 25
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation 25
Meccanismi atipici di ereditarietà 24
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 23
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series 22
Oral-facial-digital syndromes: review and diagnostic guidelines 21
Functional characterization of tissue-specific enhancers in the DLX5/6 locus 20
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants 19
p63 mutations account for a range of congenital anomaly syndromes with a clear genotype phenotype correlation RID D-5697-2011 19
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients 19
FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients 18
PHYSICAL MAPPING OF THE HOLOPROSENCEPHALY CRITICAL REGION ON CHROMOSOME-7Q36 RID A-1081-2010 18
X-LINKED MENTAL-RETARDATION WITH MARFANOID HABITUS - 1ST REPORT OF 4 ITALIAN PATIENTS 18
Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog. 18
X-linked Mental retardation: update 1991 18
GENES FOR SPLIT HAND/SPLIT FOOT AND LATERALITY DEFECTS ON 7Q22.1 AND XQ24-Q27.1 17
Defective oxytocin function: a clue to understanding the cause of autism? 17
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder 17
Malattie da difetti dell'imprinting genomico 17
White matter and cerebellar involvement in alternating hemiplegia of childhood 17
Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome 17
Exploring the Role of the MUTYH Gene in Breast, Ovarian and Endometrial Cancer 16
XLMR GENES - UPDATE 1990 16
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 16
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients 16
Distinct neurological disorders with ATP1A3 mutations 16
Diagnostic strategies in overgrowth syndromesBoccuto 16
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 16
DNA Methylation in the Diagnosis of Monogenic Diseases 15
FURTHER DELINEATION OF THE SIMPSON-GOLABI-BEHMEL (SGB) SYNDROME 15
Working up autism: the practical role of medical genetics. 15
Diagnostic strategies in overgrowth syndromes 15
Hypo-phosphorylation of salivary peptidome as a clue to the molecular pathogenesis of autism spectrum disorders 15
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation 15
The growth hormone response to exarelin in patients with Prader Willi syndrome 15
INTELLECTUAL DISABILITY SYNDROMES 15
Genetic analysis of intellectual disability and autism 15
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. 15
New syndrome of mental retardation, Robin sequence, and brachydactyly 15
ULNAR RAY DEFECT IN AN INFANT WITH A 6Q21-7Q31.2-TRANSLOCATION - FURTHER EVIDENCE FOR THE EXISTENCE OF A LIMB DEFECT GENE IN 6Q21 15
Defective loxytocin function: a clue to understanding the cause of autism? 15
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. 15
NEW AUTOSOMAL RECESSIVE SYNDROME OF MENTAL-RETARDATION, EPILEPSY, SHORT STATURE, AND SKELETAL DYSPLASIA 14
Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome. 14
Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update 14
Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects 14
Coding exons function as tissue-specific enhancers of nearby genes 14
Mowat-Wilson Syndrome: Facial Phenotype Changing With Age: Study of 19 Italian Patients and Review of the Literature 14
Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3. 14
Recognizable facial features in patients with alternating hemiplegia of childhood. 14
The Simpson-Golabi-Behmel syndrome: a clinical case and a detective story 14
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 14
MOLECULAR MARKERS FOR AUTISM 14
Elements of Morphology: standard terminology for the hands and feet 14
P63 mutations in the EEC, Hay-Wells, ADULT syndromes and in split hand/foot malformation reveals a genotype-phenotype correlation. RID D-5697-2011 14
DILATED CARDIOMYOPATHY IN THE SGB SYNDROME - REPLY 14
NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series. 14
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects 14
Difetti genetici dello sviluppo embrionale 14
PCR and sierology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism 13
The search for genes that cause holoprosencephaly: possible approaches. 13
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor 13
No Correlation between X Chromosome Inactivation Pattern and Autistic Spectrum Disorders in an Italian Cohort of Patients 13
Rearrangements of chromosome 15 in epilepsy 13
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements 13
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case 13
Patologia perinatale dell'arto superiore 13
Totale 5.465
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Categoria #
all - tutte 44.179
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 44.179
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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
2025/20266 6 0 0 0 0 0 0 0 0 0 0 0
Totale 5.839