IRIS
GURRIERI, FIORELLA
 Distribuzione geografica
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Continente #
EU - Europa 177
NA - Nord America 115
AS - Asia 45
OC - Oceania 22
SA - Sud America 9
AF - Africa 2
AN - Antartide 1
Totale 371
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Nazione #
US - Stati Uniti d'America 96
GB - Regno Unito 82
IT - Italia 32
AU - Australia 21
DE - Germania 19
CA - Canada 18
ES - Italia 8
JP - Giappone 7
BR - Brasile 6
FR - Francia 6
TR - Turchia 6
PL - Polonia 5
SG - Singapore 5
HU - Ungheria 4
BE - Belgio 3
ID - Indonesia 3
IN - India 3
JO - Giordania 3
SI - Slovenia 3
AT - Austria 2
BD - Bangladesh 2
CH - Svizzera 2
CN - Cina 2
HK - Hong Kong 2
IR - Iran 2
PT - Portogallo 2
AE - Emirati Arabi Uniti 1
AM - Armenia 1
AR - Argentina 1
BG - Bulgaria 1
BO - Bolivia 1
CY - Cipro 1
CZ - Repubblica Ceca 1
EG - Egitto 1
FI - Finlandia 1
GS - Georgia del Sud e Isole Sandwich Australi 1
HR - Croazia 1
IE - Irlanda 1
IL - Israele 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
NL - Olanda 1
NZ - Nuova Zelanda 1
PE - Perù 1
PK - Pakistan 1
RO - Romania 1
SA - Arabia Saudita 1
ZA - Sudafrica 1
Totale 371
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Città #
London 72
Council Bluffs 17
Rome 16
San Francisco 16
Boydton 13
Toronto 13
Melbourne 9
Canberra 7
Frankfurt am Main 6
Los Angeles 6
Redmond 5
Budapest 4
Cambridge 4
Paris 4
São Paulo 4
Amman 3
Atlanta 3
Kawasaki 3
Ljubljana 3
Madrid 3
Seelze 3
Singapore 3
Sydney 3
Tres Cantos 3
Warsaw 3
Bangor 2
Basel 2
Brisbane 2
Dhaka 2
Gulfport 2
Hackensack 2
Leuven 2
Lodz 2
Milan 2
Monte Vista 2
Portimão 2
Sherbrooke 2
Tokyo 2
Torre Annunziata 2
Tulsa 2
Vienna 2
Amsterdam 1
Ashburn 1
Brampton 1
Brussels 1
Buenos Aires 1
Burbank 1
Cairo 1
Central 1
Charlotte 1
Chisinau 1
Cincinnati 1
Colombo 1
Dubai 1
Dublin 1
Florence 1
Fort Mill 1
Fremont 1
Gaithersburg 1
Gauteng 1
Hanover 1
Helsinki 1
Islamabad 1
Jerusalem 1
Lima 1
Luxembourg 1
Maidenhead 1
Markham 1
Mexico City 1
Nagoya 1
New York 1
Newark 1
Nicosia 1
Oklahoma City 1
Oleggio 1
Omaha 1
Phnom Penh 1
Prague 1
Regina 1
Reston 1
Richardson 1
Riyadh 1
Rockville 1
San Diego 1
Santa Clara 1
Seoul 1
Sofia 1
Sucre 1
Surabaya 1
Tehran 1
Torre del Greco 1
Yerevan 1
Zagreb 1
Totale 310
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Nome #
AUTS2-Related Neuropsychiatric Disorders with Intrafamilial Variability 64
Rare Thrombophilic Variants in two Patients with Cerebral Venous Sinus Thrombosis after COVID-19 Vaccine Administration 17
Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families 11
Simultaneous presence of Brugada and overgrowth syndromes 8
Whole exome sequencing identifies a rare variant in MAS1 gene in a subject with lethal COVID-19 8
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. 8
Meccanismi atipici di ereditarietà 8
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 8
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation 7
Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study 6
p63 mutations account for a range of congenital anomaly syndromes with a clear genotype phenotype correlation RID D-5697-2011 6
Malattie da difetti dell'imprinting genomico 5
"MARCATORI MOLECOLARI PER L'AUTISMO" 5
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 5
Emerging from the Darkness. Sudden Cardiac Death in Cardiac Amyloidosis 4
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series 4
DNA Methylation in the Diagnosis of Monogenic Diseases. 4
Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome. 4
XLMR GENES - UPDATE 1990 4
X-LINKED MENTAL-RETARDATION WITH MARFANOID HABITUS - 1ST REPORT OF 4 ITALIAN PATIENTS 4
X-linked Mental retardation: update 1991 4
Elements of Morphology: standard terminology for the hands and feet 4
Genetic analysis of intellectual disability and autism 4
P63 mutations in the EEC, Hay-Wells, ADULT syndromes and in split hand/foot malformation reveals a genotype-phenotype correlation. RID D-5697-2011 4
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. 4
ULNAR RAY DEFECT IN AN INFANT WITH A 6Q21-7Q31.2-TRANSLOCATION - FURTHER EVIDENCE FOR THE EXISTENCE OF A LIMB DEFECT GENE IN 6Q21 4
GENES FOR SPLIT HAND/SPLIT FOOT AND LATERALITY DEFECTS ON 7Q22.1 AND XQ24-Q27.1 3
A new susceptibility locus for migraine with aura in the 15q11-q13 genomic region containing three GABA-A receptor genes 3
NEW AUTOSOMAL RECESSIVE SYNDROME OF MENTAL-RETARDATION, EPILEPSY, SHORT STATURE, AND SKELETAL DYSPLASIA 3
FURTHER DELINEATION OF THE SIMPSON-GOLABI-BEHMEL (SGB) SYNDROME 3
AN ADDITIONAL PATIENT WITH THE 3C SYNDROME 3
GENE FOR SIMPSON-GOLABI-BEHMEL SYNDROME IS LINKED TO HPRT IN XQ26 IN 2 EUROPEAN FAMILIES 3
Working up autism: the practical role of medical genetics. 3
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy. 3
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases. 3
Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update 3
Rearrangements of chromosome 15 in epilepsy 3
A GIRL WITH THE LUJAN-FRYNS SYNDROME 3
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome 3
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. 3
Chromosome 15 cryptic rearrangements in pervasive developmental disorders. 3
Diagnostic strategies in overgrowth syndromes 3
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 3
Hypo-phosphorylation of salivary peptidome as a clue to the molecular pathogenesis of autism spectrum disorders 3
Coding exons function as tissue-specific enhancers of nearby genes 3
Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3. 3
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 3
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case 3
INTELLECTUAL DISABILITY SYNDROMES 3
Holoprosencephaly: molecular approaches toward understanding midline development of the forebrain in humans 3
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer 3
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants 3
NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series. 3
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 3
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study 3
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients 3
PCR and sierology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism 2
ORAL-FACIAL-SKELETAL SYNDROMES 2
Defective oxytocin function: a clue to understanding the cause of autism? 2
The search for genes that cause holoprosencephaly: possible approaches. 2
FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients 2
MUTATIONAL ANALYSIS OF DISTAL-LESS GENES IN SPLIT HAND SPLIT FOOT ANOMALY 2
PHYSICAL MAPPING OF THE HOLOPROSENCEPHALY CRITICAL REGION ON CHROMOSOME-7Q36 RID A-1081-2010 2
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder 2
Molecular characterization of p63 mutations found in six different human disorders involving limb, ectodermal, and lip/palate abnormalities RID D-5697-2011 2
Functional characterization of tissue-specific enhancers in the DLX5/6 locus 2
Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog. 2
Mowat-Wilson Syndrome: Facial Phenotype Changing With Age: Study of 19 Italian Patients and Review of the Literature 2
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation 2
Limb anomalies: Developmental and evolutionary aspects 2
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome 2
Hypo-Phosphorylation of Salivary Peptidome as Clue of the Molecular Pathogenesis of Autism Spectrum Disorders 2
Genetic imprinting: the paradigm of Prader-Willi and Angelman syndromes 2
MOLECULAR MARKERS FOR AUTISM 2
White matter and cerebellar involvement in alternating hemiplegia of childhood 2
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus 2
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 2
Identification of new candidate genes for spina bifida through exome sequencing. 2
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 2
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients 2
Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. 2
Letter to the Editor - Case of apparent Gurrieri syndrome showing molecular findings of Angelman syndrome 2
Results of a gene panel approach in a cohort of patients with incomplete distal renal tubular acidosis and nephrolithiasis 2
The genetics of epilepsy - Introduction 1
Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21 1
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor 1
No Correlation between X Chromosome Inactivation Pattern and Autistic Spectrum Disorders in an Italian Cohort of Patients 1
INHERITANCE OF THE ORAL-FACIAL-DIGITAL SYNDROME (OFDS) TYPE-VIII - REPLY 1
POSSIBLE NEW TYPE OF ORAL-FACIAL-DIGITAL SYNDROME WITH RETINAL ABNORMALITIES - OFDS TYPE-(VIII) 1
Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects 1
A split hand-split foot (SHFM3) gene is located at 10q24-->25 1
The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy 1
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 1
Structural and functional analysis of a growth-regulated gene, the human calcyclin. 1
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients 1
Epilepsy and Pervasive Developmental Disorders due to a deletion within the AS/PWS critical region. 1
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements 1
FINE MAPPING OF THE AUTOSOMAL-DOMINANT SPLIT HAND SPLIT FOOT LOCUS ON CHROMOSOME-7, BAND Q21.3-Q22.1 RID A-1081-2010 1
Recognizable facial features in patients with alternating hemiplegia of childhood. 1
The growth hormone response to exarelin in patients with Prader Willi syndrome 1
Totale 375
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Categoria #
all - tutte 12.645
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 12.645
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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
2022/2023117 0 0 1 22 21 11 9 15 2 12 23 1
2023/202497 25 62 10 0 0 0 0 0 0 0 0 0
Totale 385