DALLA PICCOLA, Bruno
 Distribuzione geografica
Continente #
NA - Nord America 2730
EU - Europa 469
AS - Asia 242
AF - Africa 25
SA - Sud America 22
Totale 3488
Nazione #
US - Stati Uniti d'America 2718
IT - Italia 143
IN - India 122
UA - Ucraina 117
CN - Cina 115
SE - Svezia 83
FI - Finlandia 67
BE - Belgio 22
AR - Argentina 21
TG - Togo 21
NL - Olanda 18
GB - Regno Unito 15
CA - Canada 11
ZA - Sudafrica 3
JP - Giappone 2
KR - Corea 2
BR - Brasile 1
BZ - Belize 1
CH - Svizzera 1
DE - Germania 1
DZ - Algeria 1
RO - Romania 1
RU - Federazione Russa 1
TW - Taiwan 1
Totale 3488
Città #
Fairfield 557
Woodbridge 253
Chandler 251
Seattle 227
Houston 210
Ashburn 191
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
San Diego 30
Dearborn 28
Millbury 27
Boardman 21
Federal 21
Lomé 21
Andover 19
Norwalk 15
Des Moines 13
Waanrode 13
Falls Church 10
Brussels 9
Toronto 6
Ottawa 5
Hefei 4
London 4
Buffalo 3
Fremont 3
Kunming 3
Philadelphia 3
Absecon 2
Indiana 2
Las Vegas 2
Los Angeles 2
Nanchang 2
Reading 2
Silverton 2
Southend 2
Algiers 1
Amsterdam 1
Belize City 1
Castiglione Chiavarese 1
Changsha 1
Chaoyang 1
Chongqing 1
Dallas 1
Davos Platz 1
Florence 1
Fuzhou 1
Guangzhou 1
Hangzhou 1
Hiroshima 1
Jinan 1
Laurel 1
Marlborough 1
Milan 1
Modugno 1
Monterotondo 1
Muizenberg 1
Mumbai 1
Nanjing 1
Nanning 1
Nardò 1
Padova 1
Redmond 1
Redwood City 1
Rio Saliceto 1
Riva 1
San Jose 1
San Mateo 1
Santiago 1
Seversk 1
Spoltore 1
Taipei 1
Tokyo 1
Torre del Greco 1
Trumbull 1
Turin 1
Zhangzhou 1
Totale 2971
Nome #
A genetic assessment of trisomy 21 in a patient with persistent truncus arteriosus who died 38 years ago 97
Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: a specific cardiac phenotype associated with deletion 18q syndrome 84
Mapping a dominant form of multinodular goiter to chromosome Xp22. 82
Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification 80
DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene 75
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum 73
Familial recurrence of transposition of the great arteries. 70
Association of Di George anomaly and caudal dysplasia sequence in neonate born to a diabetic mother. 70
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 70
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome 70
Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors 69
New mutations in ZFPM2/FOG2 gene in tetralogy of fallot and double outlet right ventricle 67
Gut microbiota dysbiosis as risk and premorbid factors of IBD and IBS along the childhood-adulthood transition 67
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome 66
Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect 66
Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: A possible link to the Adams-Oliver syndrome 65
Mapping a dominant form of multinodular goiter to chromosome Xp22 65
Screening for 22q11.2 microdeletion in adults with tetralogy of Fallot 60
Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome) 60
PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype" 59
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes 59
Familial transposition of the great arteries caused by multiple mutations in laterality genes 59
Atrioventricular canal defect and associated genetic disorders: new insights into polydactyly syndromes 59
Atrioventricular canal defect as a sign of laterality defect in Ellis-van Creveld and polydactyly syndromes with ciliary and hedgehog signaling dysfunction 59
Deletion 22q11 and isolated congenital heart disease 59
Novel and recurrent JAG1 mutations in patients with tetralogy of fallot 59
Atrioventricular canal defect in patients with RASopathies 59
Complete transposition of the great arteries: patterns of congenital heart disease in familial precurrence 58
LEOPARD syndrome: clinical diagnosis in the first year of life. 57
Ebstein Anomaly: Genetic Heterogeneity and Association With Microdeletions 1p36 and 8p23.1 57
22q11 Deletion syndrome: a review of some developmental biology aspects of the cardiovascular system 57
Interaction between PPARγ2 variants and gender on the modulation of body weight 56
NF1 gene analysis based on DHPLC. 56
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome 56
Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss 55
Syndromic non-compaction of the left ventricle: associated chromosomal anomalies 55
JAG1 Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot 55
PARK6-Linked Parkinsonism Occurs in Several European Families 55
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot 54
Genetics of congenital heart diseases in syndromic and non-syndromic patients: new advances and clinical implications 53
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy 53
PINK1 heterozygous rare variants: Prevalence, significance and phenotypic spectrum 53
LEOPARD SYNDROME 51
Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects 51
Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes 51
Mutations of FOG-2 gene in sporadic cases of Tetralogy of Fallot 50
Costello syndrome: clinical diagnosis in the first year of life 49
SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype-Phenotype Correlations 48
Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal 48
Genetic prediction of common diseases. Still no help for the clinical diabetologist! 47
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism 43
The functional Q84R polymorphism of mammalian tribbles homolog TRB3 is associated with insulin resistance and related cardiovascular risk in Caucasian from Italy 42
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene 42
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene 41
Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology 40
Genetic Dosage Compensation in a Family with Velo-Cardio-Facial/DiGeorge/22q11.2 Deletion Syndrome 40
ZEPM2/FOG2 AND HEY2 GENES ANALYSIS IN NONSYNDROMIC TRICUSPID ATRESIA 38
Diagnosi prenatale del I trimestre: esperienza su 276 casi. 33
Combinatorial sequencing-by-hybridization: Analysis of the NF1 gene 33
RASophathies: clinical diagnosis in the first year of life. 32
A novel family with un unusual early onset generalized distonia 31
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. 30
Mutations in a novel gene in Ellis-van Creveld syndrome and Weyers acrofacial dysostosis. 28
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm 26
Functional analysis of splicing mutations in exon 7 of NFI gene 24
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients 22
Deletion af a 5 cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. 18
Totale 3616
Categoria #
all - tutte 5011
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 5011


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2017/20185 0000 00 12 1100
2018/2019636 114217 182 41 8112248182
2019/20201080 142231850 112133 153133 1191185524
2020/2021272 4731933 719 431 2434258
2021/2022739 3578911 819 2391 5047137141
2022/2023653 13821028107 8277 110 0000
Totale 3616