statistiche per DI GREGORIO, ELEONORA

Distribuzione geografica

Continente	#
NA - Nord America	4216
EU - Europa	3820
AS - Asia	1236
SA - Sud America	113
OC - Oceania	63
AF - Africa	28
Continente sconosciuto - Info sul continente non disponibili	2
Totale	9478

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Nazione	#
US - Stati Uniti d'America	4039
IT - Italia	1300
CN - Cina	713
DE - Germania	553
FR - Francia	349
SE - Svezia	298
UA - Ucraina	233
AT - Austria	188
FI - Finlandia	184
GB - Regno Unito	150
ES - Italia	138
CA - Canada	136
KR - Corea	132
PL - Polonia	125
VN - Vietnam	108
JP - Giappone	93
BR - Brasile	67
IN - India	64
AU - Australia	56
DK - Danimarca	46
NL - Olanda	42
MX - Messico	32
RO - Romania	31
HK - Hong Kong	25
IE - Irlanda	24
BE - Belgio	22
RU - Federazione Russa	22
TR - Turchia	22
CH - Svizzera	21
TW - Taiwan	21
AR - Argentina	18
CZ - Repubblica Ceca	16
IL - Israele	16
GR - Grecia	15
PT - Portogallo	15
SN - Senegal	15
CO - Colombia	14
NO - Norvegia	9
ID - Indonesia	7
NZ - Nuova Zelanda	7
RS - Serbia	7
SI - Slovenia	7
CR - Costa Rica	6
HU - Ungheria	6
IR - Iran	6
BA - Bosnia-Erzegovina	5
CL - Cile	5
SK - Slovacchia (Repubblica Slovacca)	5
AE - Emirati Arabi Uniti	4
MY - Malesia	4
PE - Perù	4
ZA - Sudafrica	4
BO - Bolivia	3
NG - Nigeria	3
PK - Pakistan	3
TH - Thailandia	3
TN - Tunisia	3
UZ - Uzbekistan	3
EU - Europa	2
HR - Croazia	2
LU - Lussemburgo	2
ME - Montenegro	2
PH - Filippine	2
PS - Palestinian Territory	2
BD - Bangladesh	1
BG - Bulgaria	1
BS - Bahamas	1
CY - Cipro	1
DZ - Algeria	1
EC - Ecuador	1
HN - Honduras	1
IQ - Iraq	1
IS - Islanda	1
JO - Giordania	1
KW - Kuwait	1
MT - Malta	1
MU - Mauritius	1
NP - Nepal	1
PR - Porto Rico	1
SA - Arabia Saudita	1
SD - Sudan	1
SG - Singapore	1
UY - Uruguay	1
Totale	9478

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Città	#
Fairfield	415
Houston	398
Beijing	384
Ann Arbor	348
Torino	307
Woodbridge	226
Redwood City	206
Villeurbanne	181
Wilmington	181
Vienna	180
Ashburn	173
Seattle	158
Cambridge	151
Dearborn	138
Warsaw	105
Jacksonville	100
Pisa	91
Dong Ket	69
Fremont	59
Ottawa	45
Shanghai	39
Toronto	38
Nanjing	35
Milan	34
Paris	30
Rome	29
Guangzhou	25
Tokyo	23
Hangzhou	21
Padova	21
Roda De Bará	21
Seoul	20
Nürnberg	19
San Diego	19
Philadelphia	18
Hefei	17
Kunming	15
Lyndhurst	15
Taipei	15
London	14
Phoenix	14
Wuhan	14
Silver Spring	13
São Paulo	13
Barcelona	12
Mountain View	12
Verona	12
Madrid	11
Bologna	10
Changsha	10
Napoli	10
New Haven	10
New York	10
Stanford	10
Zhengzhou	10
Florence	9
Pavia	9
Central District	8
Dallas	8
Jinan	8
Mexico	8
Oklahoma City	8
Rio De Janeiro	8
Rochester	8
Brisbane	7
Buffalo	7
Duncan	7
Federal	7
Garbagnate Milanese	7
Hebei	7
Istanbul	7
Leawood	7
Menlo Park	7
Montréal	7
Norwalk	7
Palma De Mallorca	7
Stuttgart	7
Uppsala	7
Anderson	6
Arquata	6
Atlanta	6
Baltimore	6
Bangalore	6
Dresden	6
Edinburgh	6
Ferrara	6
Florianópolis	6
Legnano	6
Los Angeles	6
Perth	6
Pittsburgh	6
Rotterdam	6
San Fernando	6
Shenyang	6
Utrecht	6
Valencia	6
Waanrode	6
Austin	5
Berlin	5
Brescia	5
Totale	4855

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Nome	#
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	503
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.	393
Un caso di inv dup del(9p) con sex-reversal e cardiopatia congenita	376
Leucodistrofia autosomica dominante dell’adulto (ADLD) associata a duplicazione del gene LMNB1: identificazione dei breakpoint e studio dell’espressione in otto famiglie	353
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q	350
De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype	326
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.	316
Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans	291
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications	232
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy	218
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	192
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)	182
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity	166
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH.	165
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)	162
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation	161
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.	150
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38	147
Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38	147
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2	146
Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38)	144
Heterozygous deletion of KLHL1/ATXN8OS at the SCA8 locus are likely not associated with cerebellar impairment in humans	135
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome.	131
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression	121
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism	106
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia	106
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM	101
Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study	100
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	81
Microduplicazione 17p13.1 in un paziente con diabete mellito2, sindrome metabolica e ritardo mentale	72
LEUCODISTROFIA AUTOSOMICA DOMINANTE DELL’ADULTO (ADLD) ASSOCIATA A DUPLICAZIONE DEL GENE LMNB1: IDENTIFICAZIONE DEI BREAKPOINT E STUDIO DELL’ESPRESSIONE IN OTTO FAMIGLIE	72
9p deletion syndrome-like in a girl with a 9p insertion on chromosome 2 without 9p deletion	70
Oligodontia segregating with a 7p21.2p21.1 ∼ Mb duplication in an Italian family with three affected siblings	70
Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice	65
Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes	64
Unraveling molecular pathogenesis of SCA38, a novel autosomal dominant ataxia with a possible treatment	64
A rare craniosynostosis associated with an atypical 22q11 microdeletion	60
LARGE CRYPTIC GENOMIC REARRANGEMENTS WITH APPARENTLY NORMAL KARYOTYPES DETECTED BY ARRAY-CGH	60
A previously undiagnosed case of GERSTMANN-STRÄUSSLER-SCHEINKER disease revealed by PRNP gene analysis in patients with adult-onset ataxia	58
CLINICAL, NEURORADIOLOGICAL AND MOLECULAR INVESTIGATION OF ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): DISSECTION OF LAMIN B1-MEDIATED PATHOPHYSIOLOGICAL MECHANISMS IN CELLULAR AND MOUSE MODELS	56
TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY	56
EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA	56
Spinocerebellar Ataxia Type 38.	56
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans	56
Cover Image, Volume 170A, Number 7, July 2016	54
A new locus for pure Spinocerebellar Ataxia associated with Erythrokeratodermia maps to chromosome 6p12.3-q16.1	54
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
The (-16C>T) substitution in the PLEKHG4 gene is not present among European ADCA patients	53
A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline.	51
A "Position Effect” Involved In The Pathogenesis Of Autosomal Dominant Leukodystrophy Linked To Chromosome 5q21-q23 In An Italian Family	50
Delezione del gene ASTN2 (Astroactin-2), coinvolto nella migrazione neuronale, in due sorelle con ritardo psicomotorio	50
“A de novo X;8 translocation in a patient with psychomotor retardationand congenital cerebellar hypoplasia creates a PTK2-THOC2 fusion gene and knocks down THOC2 expression by transcriptional interference”	49
EXOME SEQUENCING REVEALS AN ATYPICAL CASE OF SCAR1 WITH MYOCLONIC MOVEMENTS AT ONSET	48
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients	48
LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION	47
Autosomal dominant adult–onset leukodystrophy (ADLD) without LMNB1 mutations: a new variant?	46
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND FATTY ACID METABOLISM	45
Labiopalatoschisi ed esadattilia bilaterale della mano associate ad una doppia delezione de novo sul cromosoma 4q32 e 4q34 che coinvolgono I geni PDGFC e FBXO8	44
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations	44
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)	42
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM	42
LAMIN B1 DYSREGULATION IN AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): GENETICS AND BIOLOGICAL MECHANISMS	41
Autosomal dominant leukodystrophy: characterization of eight famiglie with homogeneous phenorype	38
Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy	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	37
Doppia traslocazione (7;13 e 11;15) con delezione di 3.4 Mb in 13q12.2 associata ad ipotonia e ritardo dello sviluppo psicomotorio	35
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review	35
Characterization of lamin B1 duplication breakpoints and expression analysis in ADLD patients	34
“De-novo translocation involving PTK2 and THOC2 genes in a patient with cerebellar hypoplasia and mental retardation”	33
Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15	33
AUTOSOMAL DOMINANT LEUKODYSTROPHY: GENETIC CHARACTERIZATION OF EIGHT FAMILIES WITH HOMOGENEOUS PHENOTYPE	32
Monosomia 10q26.3 e 18q22.3-q23 e trisomia 18q21.33q22.3 de novo in una paziente affetta da ritardo mentale e dismorfismi facciali	32
Spinocerebellar ataxia type 15: clinical and molecular-genetic features of two Italian families	32
A new locus for pure Spinocerebellar Ataxia associated with Erythrokeratodermia maps to chromosome 6p12.3-16.1	32
A 660 KB DELETION CENTROMERIC TO THE LAMIN B1 GENE (LMNB1) MIMICS LMNB1 DUPLICATION AND CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY	30
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot	30
Mutations in the lamin B1 gene are not present in multiple sclerosis	30
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
Second-Generation Sequencing to detect uncommon mutations in the ATM gene	26
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)	26
Spinocerebellar ataxia type 15: clinical and molecular-genetics features of two Italian families	26
Analisi array-CGH e riarrangiamenti genomici a mosaico	25
DE-NOVO 8q24.3;Xq24 TRANSLOCATION ASSOCIATED WITH MENTAL RETARDATION AND CEREBELLAR HYPOPLASIA”.	24
Deficit di PAPP-A in gravidanza, fenotipo Cornelia De Lange e riarrangiamenyo genomico da traslocazione reciproca	24
Heterotopic bone formation not related to POH/FOP disease: a new entity?	23
Array-CGH: sindromi note, varianti private e nuove sindromi	22
Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion.	21
A novel gene for Spinocerebellar Ataxia (SCA) linked to chromosome 6 and fatty acid metabolism	19
A Novel SCA Locus Associated With Pure Cerebellar Ataxia In An Italian Family.	17
A novel gene for Spinocerebellar Ataxia (SCA) linked to chromosome 6 and fatty acid metabolism	15
Totale	9891

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Categoria	#
all - tutte	9891
article - articoli	0
book - libri	0
conference - conferenze	2903
curatela - curatele	0
other - altro	0
patent - brevetti	0
selected - selezionate	0
volume - volumi	0
Totale	12794

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	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2016/2017	253	0	0	0	0	0	0	0	0	0	0	185	68
2017/2018	1771	116	124	133	106	93	109	116	192	390	157	111	124
2018/2019	1660	101	77	79	119	101	68	129	218	120	183	284	181
2019/2020	2161	150	125	109	270	143	367	203	144	192	229	123	106
2020/2021	1612	132	116	113	128	142	101	146	81	148	151	130	224
2021/2022	1622	109	91	134	320	113	132	94	121	106	112	290	0
Totale													9891

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statistiche per DI GREGORIO, ELEONORA