statistiche per GIORGIO, ELISA

Distribuzione geografica

Continente	#
NA - Nord America	4998
EU - Europa	4035
AS - Asia	1762
SA - Sud America	177
OC - Oceania	98
AF - Africa	44
Continente sconosciuto - Info sul continente non disponibili	6
Totale	11120

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Nazione	#
US - Stati Uniti d'America	4756
IT - Italia	1461
CN - Cina	1080
DE - Germania	486
FR - Francia	363
SE - Svezia	256
AT - Austria	220
CA - Canada	194
GB - Regno Unito	194
JP - Giappone	185
ES - Italia	179
FI - Finlandia	156
UA - Ucraina	146
KR - Corea	125
PL - Polonia	109
BR - Brasile	108
VN - Vietnam	102
AU - Australia	83
NL - Olanda	82
IN - India	71
IE - Irlanda	50
BA - Bosnia-Erzegovina	45
BE - Belgio	41
IL - Israele	41
DK - Danimarca	39
MX - Messico	36
TR - Turchia	36
RU - Federazione Russa	35
CH - Svizzera	33
HK - Hong Kong	33
RO - Romania	32
TW - Taiwan	31
AR - Argentina	25
PT - Portogallo	24
SN - Senegal	23
CO - Colombia	18
GR - Grecia	18
NO - Norvegia	17
NZ - Nuova Zelanda	15
CZ - Repubblica Ceca	14
CL - Cile	12
ZA - Sudafrica	9
HU - Ungheria	8
ID - Indonesia	8
IR - Iran	8
PE - Perù	8
SA - Arabia Saudita	7
CR - Costa Rica	6
EU - Europa	6
AE - Emirati Arabi Uniti	4
BO - Bolivia	4
PK - Pakistan	4
PS - Palestinian Territory	4
RS - Serbia	4
SI - Slovenia	4
EG - Egitto	3
HR - Croazia	3
IQ - Iraq	3
MK - Macedonia	3
NG - Nigeria	3
SG - Singapore	3
SK - Slovacchia (Repubblica Slovacca)	3
BD - Bangladesh	2
BG - Bulgaria	2
KW - Kuwait	2
LU - Lussemburgo	2
ME - Montenegro	2
PH - Filippine	2
PR - Porto Rico	2
QA - Qatar	2
TH - Thailandia	2
TN - Tunisia	2
UZ - Uzbekistan	2
AN - Antille olandesi	1
BS - Bahamas	1
BY - Bielorussia	1
CY - Cipro	1
DZ - Algeria	1
EC - Ecuador	1
GT - Guatemala	1
HN - Honduras	1
IS - Islanda	1
JO - Giordania	1
LK - Sri Lanka	1
LT - Lituania	1
LY - Libia	1
MT - Malta	1
MY - Malesia	1
NP - Nepal	1
SC - Seychelles	1
SD - Sudan	1
UY - Uruguay	1
Totale	11120

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Città	#
Fairfield	490
Houston	423
Torino	399
Beijing	378
Redwood City	308
Woodbridge	247
Ann Arbor	227
Wilmington	213
Vienna	202
Ashburn	184
Seattle	176
Cambridge	161
Villeurbanne	153
Dearborn	122
Shanghai	111
Pisa	88
Warsaw	87
Jacksonville	68
Dong Ket	61
Guangzhou	59
Toronto	51
Tokyo	46
Milan	43
Paris	43
Nanjing	42
Fremont	41
Hangzhou	41
Rome	40
Ottawa	34
San Diego	34
Seoul	34
Sarajevo	32
Padova	31
Wuhan	28
Los Angeles	25
Kildare	23
Lyndhurst	23
Edinburgh	22
San Francisco	22
Stuttgart	22
Changsha	21
Irvine	21
Madrid	21
Pavia	21
Roda De Bará	21
Chengdu	20
Taipei	20
Bologna	19
Changchun	19
Kunming	19
New York	19
São Paulo	19
Hefei	18
Buffalo	17
Mountain View	17
Silver Spring	17
Zhengzhou	17
Chongqing	16
New Haven	16
Nürnberg	16
Tianjin	16
Central District	15
Jinan	15
North York	15
Phoenix	15
Rochester	15
Barcelona	14
Hebei	14
La Jolla	14
Legnano	14
Philadelphia	14
Siena	14
Stanford	14
Boston	13
Montréal	13
Nijmegen	13
Pittsburgh	13
Xian	13
Istanbul	12
London	12
Utrecht	12
Verona	12
Baltimore	11
Bethesda	11
Brookline	11
Florence	11
Piemonte	11
Anderson	10
Atlanta	10
Dallas	10
Nutley	10
Shenyang	10
Burlington	9
Hyderabad	9
Napoli	9
Rio De Janeiro	9
Santiago	9
Wisconsin Rapids	9
Bern	8
Chicago	8
Totale	5685

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Nome	#
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism	1742
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity	595
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes	504
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples	406
Two families with novel missense mutations in COL4A1: When diagnosis can be missed.	397
Leucodistrofia autosomica dominante dell’adulto (ADLD) associata a duplicazione del gene LMNB1: identificazione dei breakpoint e studio dell’espressione in otto famiglie	356
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q	352
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.	319
A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids	282
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications	234
Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification	207
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy	202
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy	197
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes	193
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)	182
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells	171
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH.	168
Novel mutation of SLC20A2 in an Italian patient presenting with migraine.	167
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity	166
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)	164
Possible Influence of a Non-Synonymous Polymorphism Located in the NGF Precursor on Susceptibility to Late-Onset Alzheimer's Disease and Mild Cognitive Impairment.	164
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations	162
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation	161
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review	161
L’APLOTIPO H1 DEL GENE DELLA PROTEINA TAU (MAPT) È ASSOCIATO CON IL DISTURBO COGNITIVO LIEVE, UNA CONDIZIONE PRODROMICA ALLA MALATTIA DI ALZHEIMER	150
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2	149
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38	148
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East	145
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes	142
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?	138
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification	132
Recessive gene disruptions in autism spectrum disorder	128
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression	122
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants	109
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients	108
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM	104
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10	101
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis	99
CLINICAL, NEURORADIOLOGICAL AND MOLECULAR INVESTIGATION OF ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): DISSECTION OF LAMIN B1-MEDIATED PATHOPHYSIOLOGICAL MECHANISMS IN CELLULAR AND MOUSE MODELS	85
Messanger RNA processing is altered in autosomal dominant leukodystrophy.	77
O056. Migraine as presenting symptom of SLC20A2gene mutations	77
LEUCODISTROFIA AUTOSOMICA DOMINANTE DELL’ADULTO (ADLD) ASSOCIATA A DUPLICAZIONE DEL GENE LMNB1: IDENTIFICAZIONE DEI BREAKPOINT E STUDIO DELL’ESPRESSIONE IN OTTO FAMIGLIE	76
A high-content drug screening strategy to identify protein level modulators for genetic diseases: a proof-of-principle in Autosomal Dominant LeukoDystrophy (ADLD)	69
LARGE CRYPTIC GENOMIC REARRANGEMENTS WITH APPARENTLY NORMAL KARYOTYPES DETECTED BY ARRAY-CGH	61
CLINICAL, NEURORADIOLOGICAL AND MOLECULAR INVESTIGATION OF ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): DISSECTION OF LAMIN B1-MEDIATED PATHOPHYSIOLOGICAL MECHANISMS IN CELLULAR AND MOUSE MODELS	59
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient	59
EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA	58
TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY	57
Cover Image, Volume 170A, Number 7, July 2016	55
Clinical, neuroradiological and molecular investigation of Adult-onset Autosomal Dominant LeukoDystrophy (ADLD): dissection of Lamin B1-mediated pathophysiological mechanisms in cellular and mouse models	53
High miR-100 expression is associated with aggressive features and modulates TORC1 complex activation in lung carcinoids	52
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy	52
EXOME SEQUENCING REVEALS AN ATYPICAL CASE OF SCAR1 WITH MYOCLONIC MOVEMENTS AT ONSET	51
LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION	49
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients	48
ANALISI DI VARIANTI PROPRIE DEL PRECURSORE DEL NERVE GROWTH FACTOR (PRONGF) IN PAZIENTI AFFETTI DA MALATTIA DI ALZHEIMER.	47
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND FATTY ACID METABOLISM	47
Protein Stability Perturbation Contributes to the Loss of Function in Haploinsufficient Genes	46
UNA DELEZIONE DI 660 KB A MONTE DEL GENE LAMINA B1 (LMNB1) HA UN EFFETTO ANALOGO ALLA SUA DUPLICAZIONE GENICA E CAUSA LEUCODISTROFIA AUTOSOMICA DOMINANTE DELL’ADULTO (ADLD)	45
Strategie molecolari per la correzione di anomalie cromosomiche	45
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM	44
LAMIN B1 DYSREGULATION IN AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): GENETICS AND BIOLOGICAL MECHANISMS	42
Autosomal dominant leukodystrophy: characterization of eight famiglie with homogeneous phenorype	38
A LARGE GENOMIC DELETION UPSTREAM OF THE LAMIN B1 GENE (LMNB1) LIKELY CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY DUE TO ALTERATION OF THE REGULATORY LANDSCAPE OF LMNB1	38
UNA DELEZIONE DI 660 KB A MONTE DEL GENE LAMINA B1 (LMNB1) HA UN EFFETTO ANALOGO ALLA SUA DUPLICAZIONE GENICA E CAUSA LEUCODISTROFIA AUTOSOMICA DOMINANTE DELL’ADULTO (ADLD)	38
An atypical form of progressive extreme heterotopic calcification in a patient with a de novo insertional translocation der(X)ins(X;2)(q26.1;p13.3)	37
A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy	37
Characterization of lamin B1 duplication breakpoints and expression analysis in ADLD patients	34
SINDROMI LERI-WEILL/LANGER E MUTAZIONI NELLA “REGIONE SHOX”	33
AUTOSOMAL DOMINANT LEUKODYSTROPHY: GENETIC CHARACTERIZATION OF EIGHT FAMILIES WITH HOMOGENEOUS PHENOTYPE	33
Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation.	32
CHALLENGES IN MEDICAL GENETICS: EXOME SEQUENCING UNCOVERS RECESSIVE MUTATIONS IN TWO CASES WITH DE NOVO CNV.	32
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5)	32
A 660 KB DELETION CENTROMERIC TO THE LAMIN B1 GENE (LMNB1) MIMICS LMNB1 DUPLICATION AND CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY	31
A large genomic deletion upstream of the lamin B1 gene (LMNB1) likely causes adult-onset autosomal dominant leukodystrophy due to alteration of the regulatory landscape of LMNB1	29
Una delezione a monte del gene LMNB1 causa la leucodistrofia autosomica dominante dell’adulto attraverso un effetto posizione.	29
AN ATYPICAL FORM OF PROGRESSIVE EXTREME HETEROTOPIC CALCIFICATION IN A PATIENT WITH A DE NOVO INSERTIONAL TRANSLOCATION DER(X)INS(X;2)(Q26.1;P13.3)	28
Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance	28
UN CASO DI GRAVE REAZIONE AVVERSA AL 5-FLUOROURACILE ASSOCIATA A POLIMORFISMI DEL GENE DPYD: IMPLICAZIONI PER LO SVILUPPO DI PROTOCOLLI CLINICI BASATI SULLA FARMACOGENETICA	27
SLC20A1 Is Involved in Urinary Tract and Urorectal Development	26
A SPORADIC CASE OF AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD)	25
ESTIMATION OF WARFARIN DOSE DURING INITIAL ANTICOAGULATION: VALIDITY OF PREDICTION WITH PHARMACOGENETIC DATA	24
VALIDITA' DEI DATI FARMACOGENETICI NEL PREDIRE IL DOSAGGIO INIZIALE DEL WARFARIN: STUDIO PILOTA IN UN SERVIZIO OSPEDALIERO.	24
CLINICAL AND GENETIC HETEROGENEITY OF FAMILIAL LEUKOENCEPHALOPATHY AND CEREBRAL HAEMORRAGE	24
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis	21
DLG4-related synaptopathy: a new rare brain disorder	21
HEALTH TECHNOLOGY ASSESSMENT OF GENETIC TESTING FOR SUSCEPTIBILITY TO VENOUS THROMBOEMBOLISM IN ITALY	20
UTILITÀ CLINICA DELLA RICERCA FARMACOGENETICA: RISULTATI DI UN PROGETTO PILOTA IN UNA REALTA’ OSPEDALIERA	20
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question	20
Functional and clinical implications of genetic structure in 1686 Italian exomes	18
Two de novo and one familiar cases of TLK2-associated intellectual disability confirm disease variable expressivity	18
Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: A case report	14
Electroclinical features and outcome of ANKRD11-related KBG syndrome: a novel report and literature review	11
Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease	9
Analysis of the DNA methylation pattern of the promoter region of calcitonin gene-related peptide 1 gene in patients with episodic migraine: An exploratory case-control study	7
Totale	11639

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Categoria	#
all - tutte	11639
article - articoli	0
book - libri	0
conference - conferenze	1974
curatela - curatele	0
other - altro	0
patent - brevetti	0
selected - selezionate	0
volume - volumi	0
Totale	13613

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	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2016/2017	179	0	0	0	0	0	0	0	0	0	0	126	53
2017/2018	1564	94	91	120	108	74	110	103	139	351	143	110	121
2018/2019	1674	115	94	86	111	101	61	131	185	123	190	284	193
2019/2020	2063	141	114	108	226	143	316	209	180	213	205	108	100
2020/2021	3581	111	291	349	432	441	418	480	258	185	213	157	246
2021/2022	2010	125	118	152	316	157	187	131	148	122	160	394	0
Totale													11639

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statistiche per GIORGIO, ELISA