CINECA IRIS Institutional Research Information System

MUSSA, Alessandro
 Distribuzione geografica
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Continente #
NA - Nord America 4.748
EU - Europa 2.746
AS - Asia 1.789
AF - Africa 69
SA - Sud America 36
OC - Oceania 14
Continente sconosciuto - Info sul continente non disponibili 8
Totale 9.410
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Nazione #
US - Stati Uniti d'America 4.708
IT - Italia 828
CN - Cina 795
SG - Singapore 646
IE - Irlanda 513
SE - Svezia 379
FR - Francia 253
FI - Finlandia 173
DE - Germania 119
AT - Austria 94
KR - Corea 81
UA - Ucraina 71
GB - Regno Unito 70
VN - Vietnam 70
NL - Olanda 50
IN - India 44
PL - Polonia 44
SN - Senegal 44
JP - Giappone 41
ID - Indonesia 37
BE - Belgio 35
CA - Canada 28
NO - Norvegia 28
HK - Hong Kong 23
ES - Italia 22
BR - Brasile 14
GR - Grecia 12
RU - Federazione Russa 12
AU - Australia 10
CH - Svizzera 10
PH - Filippine 10
MX - Messico 9
EU - Europa 8
IL - Israele 7
PE - Perù 7
TR - Turchia 7
EC - Ecuador 6
NG - Nigeria 6
DK - Danimarca 5
IR - Iran 5
RO - Romania 5
SA - Arabia Saudita 5
TW - Taiwan 5
ZA - Sudafrica 5
CO - Colombia 4
LV - Lettonia 4
NZ - Nuova Zelanda 4
CL - Cile 3
EG - Egitto 3
HU - Ungheria 3
PK - Pakistan 3
PT - Portogallo 3
RS - Serbia 3
CY - Cipro 2
CZ - Repubblica Ceca 2
DZ - Algeria 2
ET - Etiopia 2
LT - Lituania 2
PA - Panama 2
SI - Slovenia 2
TG - Togo 2
TH - Thailandia 2
UG - Uganda 2
UZ - Uzbekistan 2
AR - Argentina 1
BA - Bosnia-Erzegovina 1
BD - Bangladesh 1
BG - Bulgaria 1
BO - Bolivia 1
CI - Costa d'Avorio 1
EE - Estonia 1
GT - Guatemala 1
HR - Croazia 1
KZ - Kazakistan 1
MN - Mongolia 1
MU - Mauritius 1
QA - Qatar 1
TN - Tunisia 1
Totale 9.410
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Città #
Chandler 804
Santa Clara 541
Singapore 534
Beijing 515
Dublin 492
Torino 277
Villeurbanne 177
Nyköping 163
Ashburn 162
Houston 157
Medford 148
Columbus 143
Princeton 134
Fairfield 129
Dearborn 118
Turin 113
Ann Arbor 100
Vienna 92
Wilmington 84
Jacksonville 76
Seattle 62
Woodbridge 55
Dong Ket 47
Redwood City 46
Warsaw 40
Cambridge 39
Hangzhou 38
Guangzhou 35
Boston 34
Milan 34
Jakarta 27
Norwalk 26
Helsinki 25
Stavanger 23
Boardman 22
Fremont 22
Shanghai 21
Brussels 19
Nanjing 17
Rome 17
Hebei 16
Tokyo 16
Paris 14
Pisa 14
Munich 13
New York 13
Philadelphia 13
Pune 13
Düsseldorf 12
Amsterdam 11
Hefei 11
Falls Church 10
Kunming 10
Mountain View 10
Athens 9
Changsha 9
Naples 9
Seoul 9
Toronto 9
Waanrode 9
Jinan 8
London 8
Dallas 7
Hong Kong 7
Melito Di Napoli 7
Ottawa 7
Piemonte 7
Washington 7
Wuhan 7
Zevio 7
Abuja 6
Detroit 6
Lappeenranta 6
Los Angeles 6
Berlin 5
Bologna 5
Bosco Chiesanuova 5
Central District 5
Chengdu 5
Frankfurt am Main 5
Mexico 5
Mumbai 5
Nanchang 5
New Milton 5
Pittsburgh 5
San Diego 5
São Paulo 5
Treviso 5
Xian 5
Zurich 5
Auckland 4
Baltimore 4
Brescia 4
Cesano Boscone 4
Collegno 4
Coventry 4
Florence 4
Fuzhou 4
Granada 4
Hockessin 4
Totale 6.054
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Nome #
Exposure to Gastric Acid Inhibitors Increases the Risk of Infection in Preterm Very Low Birth Weight Infants but Concomitant Administration of Lactoferrin Counteracts This Effect 431
Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement 228
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes 202
The KCNQ1OT1 Imprinting Control Region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases. 190
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients 160
Interaction between healthcare professionals and parents is a key determinant of parental distress during childhood hospitalisation for respiratory syncytial virus infection (European RSV Outcomes Study [EROS]) 147
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes 132
Longitudinal monitoring of alpha-fetoprotein by dried blood spot for hepatoblastoma screening in beckwith-wiedemann syndrome 114
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome 107
Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol. 98
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus 98
Prevalence of beckwith-wiedemann syndrome in North West of Italy 95
Genealogy of breastfeeding 95
Bone quantitative ultrasound in congenital and acquired childhood multiple pituitary failure. 92
Sperm count of young men surgically treated for cryptorchidism in the first and second year of life: Fertility is better in children treated at a younger age 92
Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, Management and follow-up of the syndrome 92
Alpha-fetoprotein assay on dried blood spot for hepatoblastoma screening in children with overgrowth-cancer predisposition syndromes. 91
Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease 91
Genotypic and phenotypic spectrum of 44 patients with Noonan syndrome 90
Congenital hypothyroidism, cerebellar atrophy and incomplete phenotipic expression of PHACES syndrome 86
Clinical and molecular characterization of a cohort of 49 children affected by Beckwith-Wiedemann Syndrome and related congenital defects 85
Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria. 84
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: A paradigm for genomic medicine 84
Prenatal features of Noonan syndrome: prevalence and prognostic value. 83
Combined treatment with bicalutamide and anastrozole in a young boy with peripheral precocious puberty due to McCune-Albright Syndrome 81
Four new cases of PHACES syndrome: variable phenotypic expression and endocrinefeatures 80
Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome. 80
Iatrogenic acute pancreatitis due to hypercalcemia in a child with pseudohypoparathyroidism. 80
Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder 80
A heritable cause of cleft lip and palate-Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. 79
A COMPARISON BETWEEN SIMPLE PHE AND COMBINED PHE+BH4 LOADING TEST IN PHENYLKETONURIA 78
Breastfeeding effects on newborn screening. 78
Lysosomal enzyme activities in phenylketonuria. 78
a microduplication of the centromeric domain of the 11p15.5 impirnted gene cluster is associated with loss of DNA methylation and familial BWS. 78
Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndrome. 78
In response to van Spronsen et al (2009) phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU (J Inherit Metab Dis 32: 27-31). 78
Teriparatide (rhPTH) treatment in children with syndromic hypoparathyroidism 77
When to operate on ovarian cysts in children? 77
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot 77
Prospective bone ultrasound patterns during childhood acute lymphoblastic leukemia treatment. 76
Incidence of Beckwith-Wiedemann syndrome 75
Dopamine agonists in dihydropteridine reductase deficiency 75
Constitutional bone impairment in Noonan syndrome 75
The overlap between Sotos and Beckwith-Wiedemann syndromes 75
Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency. 74
Bone alterations in children and young adults with renal transplant assessed by phalangeal quantitative ultrasound. 74
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question 74
Analisi molecolare e caratteristiche cliniche di 42 pazienti con sindrome di Beckwith e quadri correlati 72
Surgical enucleation of testicular leydigioma in a young child: case report and literature review 72
Thyroid function patterns at hashimoto's thyroiditis presentation in childhood and adolescence are mainly conditioned by patients' age 71
Comparison of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann Syndrome. 71
Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele 71
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome 71
Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency. 70
Determinants of thyrotropin rise in congenital hypothyroidism 70
Graves' disease prevalence in a young population with Turner syndrome 70
Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation 69
Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase. 69
Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized Overgrowth 69
Phalangeal quantitative ultrasound in children with phenylketonuria: a pilot study. 68
Assessment of central adrenal insufficiency in children and adolescents with Prader-Willi syndrome 68
“Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)” 68
Successful medical treatment for ranula in children. 67
SETBP1 gene variants: from Schinzel-Giedion syndrome to mild neurodevelopmental disorder, a challenge for the clinician 67
Central adrenal insufficiency in young adults with Prader-Willi Syndrome 63
Diagnostic features of thyroid nodules in pediatrics 63
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome 62
Psychopathology and Adaptive Functioning in Children, Adolescents, and Young Adults with Noonan Syndrome 60
Epidemiology, presentation and long-term evolution of graves' disease in children, adolescents and young adults with turner syndrome 59
Outcomes of children with hashitoxicosis 59
The complex surgical management of the first case of severe combined immunodeficiency and multiple intestinal atresias surviving after the fourth year of life 58
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum 58
Predictivity of Clinical Findings and Doppler Ultrasound in Pediatric Acute Scrotum 57
Pyogenic Granuloma of the Sigmoid Colon causing Intussusception in an Infant 57
Comparative evaluation of therapy with l-thyroxine versus no treatment in children with idiopathic and mild subclinical hypothyroidism 57
Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome 57
Fracture odds and body mass index in children 57
Adult phenotype of Beckwith-Wiedemann syndrome 57
[Congenital hypopituitarism in agenesis of the anterior pituitary gland: immediate management and follow-up]. 56
Comment on "prenatal diagnosis and prognosis in Noonan syndrome". 56
Screening hepatoblastoma in Beckwith-Wiedemann syndrome: A complex issue 56
Phenotype evolution and health issues of adult patients affected by Beckwith-Wiedemann Syndrome 56
Underlying Hashimoto's thyroiditis negatively affects the evolution of subclinical hypothyroidism in children irrespective of other concomitant risk factors 56
Tetrahydrobiopterin and phenylketonuria. 56
The association with Turner syndrome significantly affects the course of Hashimoto’s thyroiditis in children, irrespective of karyotype 55
Subclinical hyperthyroidism when presenting as initial manifestation of juvenile Hashimoto's thyroiditis: First report on its natural history 55
Beckwith-Wiedemann Syndrome Negligible Effects on Tumor Risk Associated with in Vitro Fertilization 55
Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia. 55
Increased spontaneous osteoclastogenesis from peripheral blood mononuclear cells in phenylketonuria. 54
Phenotyping and treatment of phenylketonuria. 54
Predictors of Malignancy in Children with Thyroid Nodules 53
Improved sperm count and motility in young men surgically treated for cryptorchidism in the first year of life 53
Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes 53
Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome 52
Fetal growth patterns in Beckwith-Wiedemann syndrome 51
Five-year prospective evaluation of thyroid function in girls with subclinical mild hypothyroidism of different etiology 51
Remittent hyperammonemia in congenital portosystemic shunt 50
Thyroid nodules and cancer in children and adolescents affected by autoimmune thyroiditis 50
Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height 50
MacCune Albright Syndrome: investigation of negative effects of biphosphonates on jaws 48
Totale 8.026
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Categoria #
all - tutte 35.665
article - articoli 0
book - libri 0
conference - conferenze 2.962
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 38.627
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020649 0 0 0 0 0 123 148 69 59 124 71 55
2020/2021721 42 85 81 31 55 36 46 42 56 53 78 116
2021/20221.299 38 44 36 128 35 23 28 93 68 99 369 338
2022/20232.281 198 176 71 249 171 602 154 154 256 53 112 85
2023/20241.004 133 199 47 65 43 95 29 47 12 45 76 213
2024/20251.806 55 254 117 332 852 196 0 0 0 0 0 0
Totale 9.820