IRIS
GURRIERI, FIORELLA
 Distribuzione geografica
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Continente #
NA - Nord America 584
EU - Europa 356
AS - Asia 331
OC - Oceania 23
SA - Sud America 13
AF - Africa 3
AN - Antartide 1
Totale 1.311
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Nazione #
US - Stati Uniti d'America 554
GB - Regno Unito 155
CN - Cina 125
SG - Singapore 118
IT - Italia 93
CA - Canada 29
IN - India 27
JP - Giappone 25
AU - Australia 22
DE - Germania 19
NL - Olanda 15
ES - Italia 13
CZ - Repubblica Ceca 11
FR - Francia 10
BR - Brasile 9
CH - Svizzera 7
HK - Hong Kong 6
TR - Turchia 6
FI - Finlandia 5
PL - Polonia 5
HU - Ungheria 4
AT - Austria 3
BE - Belgio 3
ID - Indonesia 3
JO - Giordania 3
PK - Pakistan 3
SI - Slovenia 3
BD - Bangladesh 2
EE - Estonia 2
IR - Iran 2
PH - Filippine 2
PT - Portogallo 2
AE - Emirati Arabi Uniti 1
AM - Armenia 1
AR - Argentina 1
BG - Bulgaria 1
BO - Bolivia 1
CO - Colombia 1
CY - Cipro 1
EG - Egitto 1
GS - Georgia del Sud e Isole Sandwich Australi 1
HR - Croazia 1
IE - Irlanda 1
IL - Israele 1
KE - Kenya 1
KH - Cambogia 1
KR - Corea 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
LU - Lussemburgo 1
MD - Moldavia 1
MX - Messico 1
NZ - Nuova Zelanda 1
PE - Perù 1
RO - Romania 1
SA - Arabia Saudita 1
ZA - Sudafrica 1
Totale 1.311
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Città #
Ashburn 163
Boardman 148
London 146
Shanghai 91
Singapore 86
Los Angeles 64
Rome 41
Pune 22
Council Bluffs 17
San Francisco 16
Amsterdam 14
Shinchiba 14
Toronto 13
Washington 13
Seattle 11
Boydton 9
Brno 9
Melbourne 9
Canberra 7
Frankfurt am Main 6
Paris 6
Calgary 5
Helsinki 5
Redmond 5
Zurich 5
Atlanta 4
Bari 4
Budapest 4
Cambridge 4
Foggia 4
Hong Kong 4
Madrid 4
Santa Clara 4
Shenzhen 4
São Paulo 4
Amman 3
Clifton 3
Kawasaki 3
Ljubljana 3
Nagasaki 3
San Severo 3
Surbiton 3
Sydney 3
Tres Cantos 3
Vienna 3
Warsaw 3
Amer 2
Bangor 2
Basel 2
Beijing 2
Brisbane 2
Buffalo 2
Changsha 2
Chengdu 2
Denver 2
Dhaka 2
Gulfport 2
Hackensack 2
Halifax 2
Leivi 2
Leuven 2
Lodz 2
Makati City 2
Milan 2
Monte Vista 2
New York 2
Newark 2
Portimão 2
San Ramon 2
Santa Cruz das Palmeiras 2
Schalksmühle 2
Sherbrooke 2
Tallinn 2
Tokyo 2
Torre Annunziata 2
Tulsa 2
Bogotá 1
Brampton 1
Brussels 1
Buenos Aires 1
Burbank 1
Cairo 1
Central 1
Charlotte 1
Chenzhou 1
Chisinau 1
Cincinnati 1
Colombo 1
Dallas 1
Dubai 1
Dublin 1
Florence 1
Fort Mill 1
Fremont 1
Gaithersburg 1
Gauteng 1
Hangzhou 1
Hanover 1
Harbin 1
Hejian 1
Totale 1.082
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Nome #
AUTS2-Related Neuropsychiatric Disorders with Intrafamilial Variability 121
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. 37
Rare Thrombophilic Variants in two Patients with Cerebral Venous Sinus Thrombosis after COVID-19 Vaccine Administration 36
Simultaneous presence of Brugada and overgrowth syndromes 24
Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families 20
Emerging Microorganisms and Infectious Diseases: One Health Approach for Health Shared Vision 17
"MARCATORI MOLECOLARI PER L'AUTISMO" 17
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy. 16
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study 16
Meccanismi atipici di ereditarietà 15
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 15
Whole exome sequencing identifies a rare variant in MAS1 gene in a subject with lethal COVID-19 14
Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study 14
Defective oxytocin function: a clue to understanding the cause of autism? 14
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation 14
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 14
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients 14
A new susceptibility locus for migraine with aura in the 15q11-q13 genomic region containing three GABA-A receptor genes 13
AN ADDITIONAL PATIENT WITH THE 3C SYNDROME 13
Functional characterization of tissue-specific enhancers in the DLX5/6 locus 13
Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog. 13
Emerging from the Darkness. Sudden Cardiac Death in Cardiac Amyloidosis 12
GENES FOR SPLIT HAND/SPLIT FOOT AND LATERALITY DEFECTS ON 7Q22.1 AND XQ24-Q27.1 12
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. 12
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 12
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer 12
Malattie da difetti dell'imprinting genomico 12
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants 12
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) 12
Exploring the Role of the MUTYH Gene in Breast, Ovarian and Endometrial Cancer 11
FURTHER DELINEATION OF THE SIMPSON-GOLABI-BEHMEL (SGB) SYNDROME 11
Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update 11
X-LINKED MENTAL-RETARDATION WITH MARFANOID HABITUS - 1ST REPORT OF 4 ITALIAN PATIENTS 11
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder 11
Hypo-phosphorylation of salivary peptidome as a clue to the molecular pathogenesis of autism spectrum disorders 11
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 11
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases. 10
Rearrangements of chromosome 15 in epilepsy 10
Diagnostic strategies in overgrowth syndromes 10
XLMR GENES - UPDATE 1990 10
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients 10
INTELLECTUAL DISABILITY SYNDROMES 10
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus 10
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. 10
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 10
ULNAR RAY DEFECT IN AN INFANT WITH A 6Q21-7Q31.2-TRANSLOCATION - FURTHER EVIDENCE FOR THE EXISTENCE OF A LIMB DEFECT GENE IN 6Q21 10
Oral-facial-digital syndromes: review and diagnostic guidelines 10
p63 mutations account for a range of congenital anomaly syndromes with a clear genotype phenotype correlation RID D-5697-2011 10
Results of a gene panel approach in a cohort of patients with incomplete distal renal tubular acidosis and nephrolithiasis 10
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer? 9
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series 9
DNA Methylation in the Diagnosis of Monogenic Diseases 9
NEW AUTOSOMAL RECESSIVE SYNDROME OF MENTAL-RETARDATION, EPILEPSY, SHORT STATURE, AND SKELETAL DYSPLASIA 9
GENE FOR SIMPSON-GOLABI-BEHMEL SYNDROME IS LINKED TO HPRT IN XQ26 IN 2 EUROPEAN FAMILIES 9
Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome. 9
Working up autism: the practical role of medical genetics. 9
The search for genes that cause holoprosencephaly: possible approaches. 9
A GIRL WITH THE LUJAN-FRYNS SYNDROME 9
Coding exons function as tissue-specific enhancers of nearby genes 9
Mowat-Wilson Syndrome: Facial Phenotype Changing With Age: Study of 19 Italian Patients and Review of the Literature 9
Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3. 9
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case 9
Recognizable facial features in patients with alternating hemiplegia of childhood. 9
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation 9
The growth hormone response to exarelin in patients with Prader Willi syndrome 9
Elements of Morphology: standard terminology for the hands and feet 9
Genetic analysis of intellectual disability and autism 9
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 9
P63 mutations in the EEC, Hay-Wells, ADULT syndromes and in split hand/foot malformation reveals a genotype-phenotype correlation. RID D-5697-2011 9
NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series. 9
PCR and sierology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism 8
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor 8
Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects 8
PHYSICAL MAPPING OF THE HOLOPROSENCEPHALY CRITICAL REGION ON CHROMOSOME-7Q36 RID A-1081-2010 8
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements 8
Holoprosencephaly: molecular approaches toward understanding midline development of the forebrain in humans 8
The Simpson-Golabi-Behmel syndrome: a clinical case and a detective story 8
X-linked Mental retardation: update 1991 8
Genetic imprinting: the paradigm of Prader-Willi and Angelman syndromes 8
MOLECULAR MARKERS FOR AUTISM 8
White matter and cerebellar involvement in alternating hemiplegia of childhood 8
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 8
A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing 8
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations 7
Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability 7
Melkersson-Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants? 7
ORAL-FACIAL-SKELETAL SYNDROMES 7
The genetics of epilepsy - Introduction 7
No Correlation between X Chromosome Inactivation Pattern and Autistic Spectrum Disorders in an Italian Cohort of Patients 7
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome 7
Chromosome 15 cryptic rearrangements in pervasive developmental disorders. 7
Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): Relevance to the Wolf-Hirschhorn and Down syndrome critical regions 7
Structural and functional analysis of a growth-regulated gene, the human calcyclin. 7
FINE MAPPING OF THE AUTOSOMAL-DOMINANT SPLIT HAND SPLIT FOOT LOCUS ON CHROMOSOME-7, BAND Q21.3-Q22.1 RID A-1081-2010 7
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome 7
Hypo-Phosphorylation of Salivary Peptidome as Clue of the Molecular Pathogenesis of Autism Spectrum Disorders 7
Identification of new candidate genes for spina bifida through exome sequencing. 7
Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. 7
Letter to the Editor - Case of apparent Gurrieri syndrome showing molecular findings of Angelman syndrome 7
Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders 6
Totale 1.184
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Categoria #
all - tutte 32.995
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 32.995
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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
2024/2025517 50 43 146 44 40 156 38 0 0 0 0 0
Totale 1.343