CINECA IRIS Institutional Research Information System

DE SANCTIS, Luisa
 Distribuzione geografica
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Continente #
EU - Europa 6.871
NA - Nord America 6.425
AS - Asia 2.278
SA - Sud America 110
AF - Africa 64
OC - Oceania 42
Continente sconosciuto - Info sul continente non disponibili 8
Totale 15.798
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Nazione #
US - Stati Uniti d'America 6.268
IT - Italia 3.076
CN - Cina 1.392
IE - Irlanda 710
FR - Francia 617
SE - Svezia 444
FI - Finlandia 357
DE - Germania 348
UA - Ucraina 332
KR - Corea 322
GB - Regno Unito 162
PL - Polonia 156
AT - Austria 151
JP - Giappone 105
ES - Italia 101
IN - India 88
CA - Canada 84
VN - Vietnam 84
MX - Messico 63
CH - Svizzera 59
PT - Portogallo 58
BE - Belgio 56
NL - Olanda 55
TR - Turchia 50
RU - Federazione Russa 49
HK - Hong Kong 46
TH - Thailandia 42
AU - Australia 36
GR - Grecia 35
BR - Brasile 33
RO - Romania 30
AR - Argentina 29
CO - Colombia 26
ID - Indonesia 23
TW - Taiwan 19
SG - Singapore 17
NG - Nigeria 13
SA - Arabia Saudita 12
CZ - Repubblica Ceca 11
DK - Danimarca 11
CL - Cile 10
RS - Serbia 10
UZ - Uzbekistan 10
EG - Egitto 9
IL - Israele 9
NO - Norvegia 9
ZA - Sudafrica 9
BG - Bulgaria 8
EU - Europa 8
EC - Ecuador 7
IR - Iran 7
NP - Nepal 7
PH - Filippine 7
CR - Costa Rica 6
IQ - Iraq 6
NZ - Nuova Zelanda 6
PS - Palestinian Territory 6
SN - Senegal 6
DZ - Algeria 5
PE - Perù 5
HR - Croazia 4
LB - Libano 4
LU - Lussemburgo 4
MY - Malesia 4
PK - Pakistan 4
TN - Tunisia 4
CY - Cipro 3
GH - Ghana 3
KE - Kenya 3
LV - Lettonia 3
MA - Marocco 3
MT - Malta 3
AE - Emirati Arabi Uniti 2
AM - Armenia 2
BA - Bosnia-Erzegovina 2
BD - Bangladesh 2
CM - Camerun 2
CU - Cuba 2
IS - Islanda 2
LT - Lituania 2
SI - Slovenia 2
TZ - Tanzania 2
AL - Albania 1
AO - Angola 1
EE - Estonia 1
GE - Georgia 1
GM - Gambi 1
JO - Giordania 1
KH - Cambogia 1
KZ - Kazakistan 1
MD - Moldavia 1
MW - Malawi 1
NI - Nicaragua 1
PA - Panama 1
QA - Qatar 1
RW - Ruanda 1
SK - Slovacchia (Repubblica Slovacca) 1
ZM - Zambia 1
Totale 15.798
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Città #
Chandler 1.160
Beijing 884
Dublin 693
Villeurbanne 348
Houston 318
Princeton 313
Ann Arbor 266
Jacksonville 247
Fairfield 230
Medford 209
Wilmington 195
Milan 189
Rome 171
Torino 144
Ashburn 143
Vienna 136
Redwood City 129
Warsaw 118
Nyköping 116
Turin 108
Dearborn 107
Boston 100
Woodbridge 90
Seattle 80
Cambridge 70
Hefei 67
Naples 63
Ypsilanti 60
Grafing 58
Hangzhou 49
Pisa 48
Bologna 45
Porto 44
Palermo 41
Boardman 37
Fremont 37
Dong Ket 35
Guangzhou 35
Helsinki 35
Norwalk 35
Nanchang 34
Toronto 34
Florence 33
San Diego 33
Bari 32
Chengdu 30
Nanjing 30
Hebei 29
Paris 27
Shanghai 27
San Mateo 26
Verona 26
Falls Church 25
Philadelphia 22
Brussels 21
Detroit 21
Napoli 20
Salt Lake City 20
Tokyo 20
Chicago 19
Istanbul 18
Jinan 18
Zurich 18
Bangkok 17
Hamburg 17
Parma 17
Barcelona 16
Buenos Aires 16
Kunming 16
Padova 16
Washington 16
Catania 15
Kharkiv 15
Manchester 15
Modena 15
Reggio Emilia 15
Wuhan 15
Avellino 14
Mexico City 14
Upper Marlboro 14
Chennai 13
Cluj-Napoca 13
London 13
Madrid 13
Seoul 13
Cagliari 12
Los Angeles 12
Mountain View 12
Salerno 12
Taizhou 12
Central District 11
Dallas 11
Messina 11
Pescara 11
Radomsko 11
Zhengzhou 11
Castelnuovo Rangone 10
Düsseldorf 10
Genoa 10
Jakarta 10
Totale 8.330
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Nome #
Metaemoglobinemia in neonato da diluizione latte formula in brodo di zucchine - caso clinico 982
Malassorbimento di glucosio-galattosio. Caso clinico 748
Epatoblastoma ad insorgenza neonatale in sindrome di beckwith-wiedemann: quale ruolo l’alterato imprinting del gene per l’igf-2? 525
Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations. 505
Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study 465
Teriparatide (rhPTH 1–34) treatment in the pediatric age: long-term efficacy and safety data in a cohort with genetic hypoparathyroidism 356
Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients 356
Autosomal Dominant Pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes Loss of Imprinting at the A/B DMR. 266
Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: Characterization of the underlying mechanisms 248
Pretreatment Endocrine Disorders Due to Optic Pathway Gliomas in Pediatric Neurofibromatosis Type 1: Multicenter Study 243
Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with Pseudohypoparathyroidism type I and GNAS epigenetic alterations. 224
null 220
Anoftalmia bilaterale: identificazione di una nuova mutazione causale nel gene SOX2 204
Incidence of primary congenital hypothyroidism and relationship between diagnostic categories and associated malformations 189
Trisma serrato in sindrome di moebius associata a sindrome di poland 176
Congenital hypothyroidism: a 2020 consensus guidelines update An ENDO-EUROPEAN REFERENCE NETWORK (ERN) initiative endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology 164
differences of sex development in the newborn: from clinical scenario to molecular diagnosis 155
Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement 151
Alterazioni della proteina Gs alfa, manifestazioni cliniche ed aspetti genetici 137
Ipoglicemia e iperglicemia nel neonato IUGR. 127
Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: A case report 124
GER e svuotamento gastrico nel neonato valutatimediante impedenziometria intraesofagea ed epigastrica 111
Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption 111
Clinical approach to sodium homeostasis disorders in children with pituitary-suprasellar tumors 111
Streptococco bovis: rara causa di sepsi neonatale ad esordio tardivo. 104
SCREENING UDITIVO IN NEONATI CON PATOLOGIE RARE E COMPLESSE. 89
Gene symbol: SLC3A1. Disease: cystinuria. 88
Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity 88
Albright hereditary osteodystrphy and pseudohypoparathyroidism: three new mutation and common deletion in GNAS1. 87
Relevance of symptoms versus objective evidences in neonatal grastroesophageal reflux disease 86
diagnosi biochimica di eterozigosi per la fenilchetonuria. 85
Genotype-phenotype correlation in dihydropteridine reductase deficiency. 84
Gene symbol: SLC7A9. Disease: cystinuria, type non-I. 84
Accuracy of fine needle aspiration biopsy of thyroid nodules in detecting malignancy in childhood: comparison with conventional clinical, laboratory, and imaging approaches. 83
Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: Clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3 82
Le basi molecolari delle iperfenilalaninemie ereditarie nella popolazione italiana 81
Biological clock and heredity in pubertal timing: what is new? 81
SOX2 anophthalmia syndrome 78
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. 77
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. 76
Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients 76
Early versus late screening for phenylketonuria: a metabolic study. 76
Adult height following a combined treatment of ketoconazole - cyproterone acetate - leuprolide depot in a boy with atypical McCune-Albright syndrome 76
2q37 deletions in patients with an albright hereditary osteodystrophy phenotype and PTH resistance 75
Cistinuria: caratterizzazione fenotipica e basi molecolari. 75
SHOX deficiency in children with growth impairment: evaluation of known and new auxological and radiological indicators 75
Growth impairment, IGF I hyposecretion and thyroid dysfunction in children with perinatal HIV-1 infection. 74
From Pseudohypoparathyroidism to inactivating PTH/PTHrP Signalling Disorder (iPPSD), a novel classification proposed by the European EuroPHP network 74
Genetic testing of hyperphenylalaninemias 73
Cystinuria phenotyping by oral lysine and arginine loading. 72
Identificazione di una delezione nel gene TCOF1 in pazienti con sindrome di Treacher-Collins-Franceschetti 72
Central diabetes insipidus in children and adolescents: 20-years experience 72
Obesity, round face, brachydactyly and mental retardation in a boy with hypocalcemia 72
Delezione del gene SHOX nella discondrosteosi di Leri-Weill. 70
Diagnosis of pseudohypoparathyroidism type la and pseudopseudohypo-parathyroidism with GNAS1 gene analysis. 70
Pseudoipoaldosteronismo e iponatriemia neonatale. 70
Screening neonatale di massa per malattie metaboliche: 10 anni di attività nella regione Piemonte 70
Distribution of plasma copeptin levels and influence of obesity in children and adolescents 69
X-linked hypophosphatemic rickets: An Italian experts' opinion survey 68
Relazioni tra stato di sonno/veglia e GER non acidi nel neonato 67
Adult height in patients treated for isolated growth hormone deficiency: role of birth weight. 67
Gene symbol: SLC7A9. Disease: cystinuria, type non-I. 66
Gene symbol: SLC7A9. Disease: cystinuria, type non-I. 66
Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup ofpseudohypoparathyroidism affecting selectively Gsα-receptor interaction. 65
Dihydropteridine reductase deficiency in man: from biology to treatment. 64
Gene symbol: SLC3A1. Disease: cystinuria. 64
Mutazioni del gene GNAS1 nelle patologie endocrine da alterata funzione della proteina Gsa. 64
Molecular basis of Dihydropterine Reductase Deficiency. 64
Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. 63
GNAS1 mutational analysis in 8 Italian Albright Hereditary Osteodystrphy patients: identification of 2 novel mutations. 63
Cardiac arrest for adrenal insufficiency in a contiguous gene deletion syndrome at Xp21.3.21.2: The importance of a careful clinical monitoring and accurate genetic definition 63
Iatrogenic acute pancreatitis due to hypercalcemia in a child with pseudohypoparathyroidism. 63
Genetic history of hyperphenylalaninemias in Italy 62
Sindrome di McCune-Albright: persistenza de iperfunzione ovarica autonoma durante l'adolescenza e l'età giovanile adulta. 62
Genetic history of phenylketonuria mutations in Italy. 61
Parental origin of Gsalpha mutations in the McCune-Albright syndrome and in isolated endocrine tumors. 61
Gene symbol: SLC3A1. Disease: cystinuria. 61
Impiego dell’impedenziometria gastrica nel follow-up post-chirurgico in un caso di atresia esofagea congenita. 61
Diagnosi di Pseudoipoparatiroidismo tipo la in 5 casi con l'analisi mutazionale del gene GNAS1. 61
Cystinuria: definition of phenotype By Lysine and Arginine oral loads. 61
Pseudoipoaldosteronismo: emergenza clinica neonatale. 61
Soppressione farmacologica dell'attività residua di adenoma GH-secernente parzialmentwe asportato in un caso di gigantismo. 61
Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin. 61
Multidisciplinary Approach for Hypothalamic Obesity in Children and Adolescents: A Preliminary Study 61
Gene symbol: SLC3A1. Disease: cystinuria. 60
Prenatal diagnosis in primary hyperphenylalaninemias. 60
La terapia con ormone della crescita nell'età evolutiva 60
Combining Real-Time COLD-and MAMA-PCR TaqMan Techniques to Detect and Quantify R201 GNAS Mutations in the McCune-Albright Syndromeâ 60
Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndrome. 60
Dihydropteridine reductase deficiency: biochemical characterization of a new mild mutation and definition of the genomic structure of the DHPR gene. 59
Searching for Arg201 mutations in the GNAS1 gene in Italian patients with McCune-Albright syndrome. 58
Cistinuria: definizione del fenotipo attraverso carico orale con lisina a arginina e analisi del genotipo. 58
Jaffe-Campanacci syndrome or neurofibromatosis type 1: A case report of phenotypic overlap with detection of NF1 gene mutation in non-ossifying fibroma 58
Relationship between gastroesophageal reflux and gastrix empting in infants. 57
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients 57
Gene symbol: SLC3A1. Disease: cystinuria. 56
Gene symbol: SLC7A9. Disease: cystinuria, type non-I. 56
Growth hormone treatment in irradiated children with brain tumors. 56
Inborn errors of neurotransmitter metabolism: from Phenotype to Genotype 56
Molecular basis of Phenylketonuria. 56
Totale 12.130
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Categoria #
all - tutte 39.066
article - articoli 0
book - libri 0
conference - conferenze 10.676
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 49.742
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019257 0 0 0 0 0 0 0 0 0 0 155 102
2019/20201.837 62 56 77 206 98 222 199 118 132 128 452 87
2020/20211.999 182 78 103 95 152 129 230 120 279 200 202 229
2021/20222.330 87 201 133 196 179 86 146 172 113 177 307 533
2022/20234.202 432 204 128 391 457 895 330 343 566 108 189 159
2023/20241.716 264 285 129 160 150 182 139 205 58 141 3 0
Totale 16.365