DALLA PICCOLA, Bruno
 Distribuzione geografica
Continente #
NA - Nord America 2.974
EU - Europa 546
AS - Asia 286
AF - Africa 25
SA - Sud America 22
Totale 3.853
Nazione #
US - Stati Uniti d'America 2.960
IN - India 158
IT - Italia 148
UA - Ucraina 117
CN - Cina 116
SE - Svezia 113
FI - Finlandia 69
BE - Belgio 38
GB - Regno Unito 22
AR - Argentina 21
TG - Togo 21
NL - Olanda 18
CA - Canada 13
IE - Irlanda 12
KR - Corea 4
BG - Bulgaria 3
ZA - Sudafrica 3
CH - Svizzera 2
DE - Germania 2
HK - Hong Kong 2
JP - Giappone 2
SG - Singapore 2
BN - Brunei Darussalam 1
BR - Brasile 1
BZ - Belize 1
DZ - Algeria 1
RO - Romania 1
RU - Federazione Russa 1
TW - Taiwan 1
Totale 3.853
Città #
Fairfield 557
Chandler 281
Woodbridge 253
Seattle 228
Ashburn 214
Houston 210
Cambridge 179
Wilmington 167
Ann Arbor 120
Beijing 95
Princeton 75
Plano 67
San Paolo di Civitate 66
Lawrence 58
Rome 57
Jacksonville 47
Boston 36
Pune 36
San Diego 30
Dearborn 28
Millbury 27
Brussels 25
Boardman 22
Federal 21
Lomé 21
Andover 19
Norwalk 15
New York 14
Des Moines 13
Waanrode 13
Dublin 12
Falls Church 10
Toronto 6
London 5
Ottawa 5
Hefei 4
Buffalo 3
Fremont 3
Kunming 3
Philadelphia 3
Sofia 3
Absecon 2
Helsinki 2
Indiana 2
Las Vegas 2
Los Angeles 2
Nanchang 2
Reading 2
Silverton 2
Southend 2
Tappahannock 2
Acton 1
Algiers 1
Amsterdam 1
Bandar Seri Begawan 1
Belize City 1
Bern 1
Bridgend 1
Castiglione Chiavarese 1
Changsha 1
Chaoyang 1
Chiswick 1
Chongqing 1
Dallas 1
Davos Platz 1
Edinburgh 1
Florence 1
Fuzhou 1
Guangzhou 1
Hangzhou 1
Hiroshima 1
Jinan 1
Kilburn 1
LaSalle 1
Laurel 1
Marlborough 1
Milan 1
Modugno 1
Monterotondo 1
Muizenberg 1
Mumbai 1
Nanjing 1
Nanning 1
Nardò 1
Nashville 1
Padova 1
Phoenix 1
Redmond 1
Redwood City 1
Rio Saliceto 1
Riva 1
San Jose 1
San Mateo 1
Santiago 1
Scarborough 1
Seversk 1
Shanghai 1
Spoltore 1
Taipei 1
Tokyo 1
Totale 3.120
Nome #
A genetic assessment of trisomy 21 in a patient with persistent truncus arteriosus who died 38 years ago 107
Mapping a dominant form of multinodular goiter to chromosome Xp22. 91
Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: a specific cardiac phenotype associated with deletion 18q syndrome 91
Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification 89
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum 81
DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene 80
PARK6-Linked Parkinsonism Occurs in Several European Families 79
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 78
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome 78
Gut microbiota dysbiosis as risk and premorbid factors of IBD and IBS along the childhood-adulthood transition 77
Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors 75
Association of Di George anomaly and caudal dysplasia sequence in neonate born to a diabetic mother. 74
Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect 74
Familial recurrence of transposition of the great arteries. 73
Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: A possible link to the Adams-Oliver syndrome 71
Mapping a dominant form of multinodular goiter to chromosome Xp22 71
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome 70
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes 69
New mutations in ZFPM2/FOG2 gene in tetralogy of fallot and double outlet right ventricle 69
Atrioventricular canal defect and associated genetic disorders: new insights into polydactyly syndromes 67
PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype" 65
Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss 65
Atrioventricular canal defect in patients with RASopathies 65
Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome) 64
Atrioventricular canal defect as a sign of laterality defect in Ellis-van Creveld and polydactyly syndromes with ciliary and hedgehog signaling dysfunction 63
Screening for 22q11.2 microdeletion in adults with tetralogy of Fallot 63
LEOPARD syndrome: clinical diagnosis in the first year of life. 62
NF1 gene analysis based on DHPLC. 62
JAG1 Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot 62
Familial transposition of the great arteries caused by multiple mutations in laterality genes 61
Ebstein Anomaly: Genetic Heterogeneity and Association With Microdeletions 1p36 and 8p23.1 61
Deletion 22q11 and isolated congenital heart disease 61
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome 61
Complete transposition of the great arteries: patterns of congenital heart disease in familial precurrence 61
Interaction between PPARγ2 variants and gender on the modulation of body weight 60
22q11 Deletion syndrome: a review of some developmental biology aspects of the cardiovascular system 60
Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes 60
Novel and recurrent JAG1 mutations in patients with tetralogy of fallot 59
LEOPARD SYNDROME 58
Genetics of congenital heart diseases in syndromic and non-syndromic patients: new advances and clinical implications 58
Syndromic non-compaction of the left ventricle: associated chromosomal anomalies 58
Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects 58
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy 58
PINK1 heterozygous rare variants: Prevalence, significance and phenotypic spectrum 58
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot 57
Costello syndrome: clinical diagnosis in the first year of life 53
Mutations of FOG-2 gene in sporadic cases of Tetralogy of Fallot 52
Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal 51
SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype-Phenotype Correlations 50
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene 49
Genetic prediction of common diseases. Still no help for the clinical diabetologist! 48
The functional Q84R polymorphism of mammalian tribbles homolog TRB3 is associated with insulin resistance and related cardiovascular risk in Caucasian from Italy 48
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism 46
Genetic Dosage Compensation in a Family with Velo-Cardio-Facial/DiGeorge/22q11.2 Deletion Syndrome 46
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene 44
ZEPM2/FOG2 AND HEY2 GENES ANALYSIS IN NONSYNDROMIC TRICUSPID ATRESIA 43
Diagnosi prenatale del I trimestre: esperienza su 276 casi. 43
Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology 42
Combinatorial sequencing-by-hybridization: Analysis of the NF1 gene 40
Mutations in a novel gene in Ellis-van Creveld syndrome and Weyers acrofacial dysostosis. 36
A novel family with un unusual early onset generalized distonia 34
RASophathies: clinical diagnosis in the first year of life. 33
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. 32
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm 32
Functional analysis of splicing mutations in exon 7 of NFI gene 31
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients 24
Deletion af a 5 cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. 20
Totale 3.981
Categoria #
all - tutte 9.212
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 9.212


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019550 0 0 0 0 0 0 0 0 8 112 248 182
2019/20201.080 142 23 18 50 112 133 153 133 119 118 55 24
2020/2021272 47 31 9 33 7 19 4 31 24 34 25 8
2021/2022739 3 57 89 11 81 9 23 91 50 47 137 141
2022/2023815 138 210 28 107 82 77 13 63 62 5 26 4
2023/2024203 22 49 13 18 20 56 1 24 0 0 0 0
Totale 3.981