IRIS
GURRIERI, FIORELLA
 Distribuzione geografica
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Continente #
NA - Nord America 365
EU - Europa 284
AS - Asia 86
OC - Oceania 22
SA - Sud America 9
AF - Africa 2
AN - Antartide 1
Totale 769
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Nazione #
US - Stati Uniti d'America 337
GB - Regno Unito 152
IT - Italia 60
CA - Canada 27
IN - India 25
JP - Giappone 24
AU - Australia 21
DE - Germania 18
ES - Italia 11
FR - Francia 8
CH - Svizzera 7
BR - Brasile 6
TR - Turchia 6
PL - Polonia 5
SG - Singapore 5
HU - Ungheria 4
BE - Belgio 3
ID - Indonesia 3
JO - Giordania 3
SI - Slovenia 3
AT - Austria 2
BD - Bangladesh 2
CN - Cina 2
HK - Hong Kong 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
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 769
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Città #
Ashburn 158
London 146
Los Angeles 36
Rome 26
Boardman 23
Pune 22
Council Bluffs 17
San Francisco 16
Shinchiba 14
Toronto 13
Washington 13
Boydton 9
Melbourne 9
Seattle 8
Canberra 7
Frankfurt am Main 6
Paris 5
Redmond 5
Zurich 5
Bari 4
Budapest 4
Cambridge 4
Foggia 4
São Paulo 4
Amman 3
Atlanta 3
Calgary 3
Kawasaki 3
Ljubljana 3
Madrid 3
Nagasaki 3
San Severo 3
Singapore 3
Sydney 3
Tres Cantos 3
Warsaw 3
Amer 2
Bangor 2
Basel 2
Brisbane 2
Dhaka 2
Gulfport 2
Hackensack 2
Halifax 2
Leuven 2
Lodz 2
Makati City 2
Milan 2
Monte Vista 2
Portimão 2
Schalksmühle 2
Sherbrooke 2
Tokyo 2
Torre Annunziata 2
Tulsa 2
Vienna 2
Amsterdam 1
Brampton 1
Brussels 1
Buenos Aires 1
Buffalo 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
Little Suamico 1
Luxembourg 1
Maglie 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
Totale 678
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Nome #
AUTS2-Related Neuropsychiatric Disorders with Intrafamilial Variability 93
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. 29
Rare Thrombophilic Variants in two Patients with Cerebral Venous Sinus Thrombosis after COVID-19 Vaccine Administration 26
Simultaneous presence of Brugada and overgrowth syndromes 17
Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families 16
Meccanismi atipici di ereditarietà 13
Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog. 11
Whole exome sequencing identifies a rare variant in MAS1 gene in a subject with lethal COVID-19 10
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy. 10
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. 10
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 10
Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study 9
FURTHER DELINEATION OF THE SIMPSON-GOLABI-BEHMEL (SGB) SYNDROME 9
"MARCATORI MOLECOLARI PER L'AUTISMO" 9
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 9
GENES FOR SPLIT HAND/SPLIT FOOT AND LATERALITY DEFECTS ON 7Q22.1 AND XQ24-Q27.1 8
AN ADDITIONAL PATIENT WITH THE 3C SYNDROME 8
GENE FOR SIMPSON-GOLABI-BEHMEL SYNDROME IS LINKED TO HPRT IN XQ26 IN 2 EUROPEAN FAMILIES 8
Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update 8
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder 8
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation 8
INTELLECTUAL DISABILITY SYNDROMES 8
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study 8
DNA Methylation in the Diagnosis of Monogenic Diseases. 7
Defective oxytocin function: a clue to understanding the cause of autism? 7
A new susceptibility locus for migraine with aura in the 15q11-q13 genomic region containing three GABA-A receptor genes 7
NEW AUTOSOMAL RECESSIVE SYNDROME OF MENTAL-RETARDATION, EPILEPSY, SHORT STATURE, AND SKELETAL DYSPLASIA 7
Working up autism: the practical role of medical genetics. 7
Diagnostic strategies in overgrowth syndromes 7
XLMR GENES - UPDATE 1990 7
X-LINKED MENTAL-RETARDATION WITH MARFANOID HABITUS - 1ST REPORT OF 4 ITALIAN PATIENTS 7
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case 7
Holoprosencephaly: molecular approaches toward understanding midline development of the forebrain in humans 7
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer 7
Malattie da difetti dell'imprinting genomico 7
Genetic analysis of intellectual disability and autism 7
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 7
ULNAR RAY DEFECT IN AN INFANT WITH A 6Q21-7Q31.2-TRANSLOCATION - FURTHER EVIDENCE FOR THE EXISTENCE OF A LIMB DEFECT GENE IN 6Q21 7
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 7
p63 mutations account for a range of congenital anomaly syndromes with a clear genotype phenotype correlation RID D-5697-2011 7
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series 6
PCR and sierology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism 6
Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome. 6
The search for genes that cause holoprosencephaly: possible approaches. 6
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases. 6
Rearrangements of chromosome 15 in epilepsy 6
A GIRL WITH THE LUJAN-FRYNS SYNDROME 6
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 6
Hypo-phosphorylation of salivary peptidome as a clue to the molecular pathogenesis of autism spectrum disorders 6
Coding exons function as tissue-specific enhancers of nearby genes 6
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements 6
Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3. 6
The growth hormone response to exarelin in patients with Prader Willi syndrome 6
X-linked Mental retardation: update 1991 6
Elements of Morphology: standard terminology for the hands and feet 6
White matter and cerebellar involvement in alternating hemiplegia of childhood 6
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus 6
P63 mutations in the EEC, Hay-Wells, ADULT syndromes and in split hand/foot malformation reveals a genotype-phenotype correlation. RID D-5697-2011 6
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. 6
Emerging from the Darkness. Sudden Cardiac Death in Cardiac Amyloidosis 5
ORAL-FACIAL-SKELETAL SYNDROMES 5
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome 5
PHYSICAL MAPPING OF THE HOLOPROSENCEPHALY CRITICAL REGION ON CHROMOSOME-7Q36 RID A-1081-2010 5
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients 5
Mowat-Wilson Syndrome: Facial Phenotype Changing With Age: Study of 19 Italian Patients and Review of the Literature 5
Recognizable facial features in patients with alternating hemiplegia of childhood. 5
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation 5
The Simpson-Golabi-Behmel syndrome: a clinical case and a detective story 5
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome 5
Hypo-Phosphorylation of Salivary Peptidome as Clue of the Molecular Pathogenesis of Autism Spectrum Disorders 5
Genetic imprinting: the paradigm of Prader-Willi and Angelman syndromes 5
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants 5
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients 5
The genetics of epilepsy - Introduction 4
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor 4
FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients 4
MUTATIONAL ANALYSIS OF DISTAL-LESS GENES IN SPLIT HAND SPLIT FOOT ANOMALY 4
Chromosome 15 cryptic rearrangements in pervasive developmental disorders. 4
Molecular characterization of p63 mutations found in six different human disorders involving limb, ectodermal, and lip/palate abnormalities RID D-5697-2011 4
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 4
Functional characterization of tissue-specific enhancers in the DLX5/6 locus 4
Structural and functional analysis of a growth-regulated gene, the human calcyclin. 4
FINE MAPPING OF THE AUTOSOMAL-DOMINANT SPLIT HAND SPLIT FOOT LOCUS ON CHROMOSOME-7, BAND Q21.3-Q22.1 RID A-1081-2010 4
Limb anomalies: Developmental and evolutionary aspects 4
MOLECULAR MARKERS FOR AUTISM 4
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 4
Identification of new candidate genes for spina bifida through exome sequencing. 4
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 4
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients 4
Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. 4
Letter to the Editor - Case of apparent Gurrieri syndrome showing molecular findings of Angelman syndrome 4
NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series. 4
Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21 3
No Correlation between X Chromosome Inactivation Pattern and Autistic Spectrum Disorders in an Italian Cohort of Patients 3
Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects 3
A split hand-split foot (SHFM3) gene is located at 10q24-->25 3
The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy 3
Epilepsy and Pervasive Developmental Disorders due to a deletion within the AS/PWS critical region. 3
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 3
SIMPSON-GOLABI-BEHMEL GENE IS CLOSELY LINKED TO HPRT IN XQ26 IN 2 EUROPEAN FAMILIES 3
Totale 748
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Categoria #
all - tutte 20.863
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 20.863
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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
2023/2024505 22 62 23 48 59 201 7 35 10 38 0 0
Totale 789