CRIS Current Research Information System

MAZZANTI, LAURA
 Distribuzione geografica
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Continente #
AS - Asia 5.326
NA - Nord America 5.143
EU - Europa 3.151
SA - Sud America 279
AF - Africa 205
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 3
Totale 14.112
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Nazione #
US - Stati Uniti d'America 5.094
VN - Vietnam 2.315
SG - Singapore 1.148
CN - Cina 1.014
GB - Regno Unito 849
DE - Germania 441
SE - Svezia 395
IT - Italia 393
HK - Hong Kong 300
FR - Francia 229
IN - India 208
BR - Brasile 201
RU - Federazione Russa 200
UA - Ucraina 188
IE - Irlanda 120
ZA - Sudafrica 85
JP - Giappone 79
EE - Estonia 63
NL - Olanda 58
KR - Corea 55
FI - Finlandia 52
AR - Argentina 39
CI - Costa d'Avorio 35
BG - Bulgaria 31
PH - Filippine 31
TG - Togo 28
BD - Bangladesh 26
CA - Canada 25
BE - Belgio 18
TH - Thailandia 17
JO - Giordania 16
NG - Nigeria 16
PL - Polonia 16
SC - Seychelles 16
CH - Svizzera 15
IQ - Iraq 14
TW - Taiwan 14
CZ - Repubblica Ceca 13
AT - Austria 12
TR - Turchia 12
ES - Italia 11
CL - Cile 10
MX - Messico 10
PY - Paraguay 10
HR - Croazia 9
ID - Indonesia 9
IR - Iran 9
SA - Arabia Saudita 7
UZ - Uzbekistan 7
EC - Ecuador 6
GR - Grecia 6
LB - Libano 6
MY - Malesia 6
PK - Pakistan 6
RO - Romania 6
UY - Uruguay 5
AL - Albania 4
AU - Australia 4
AZ - Azerbaigian 4
EG - Egitto 4
HN - Honduras 4
LY - Libia 4
MA - Marocco 4
NO - Norvegia 4
PT - Portogallo 4
A2 - ???statistics.table.value.countryCode.A2??? 3
AE - Emirati Arabi Uniti 3
CO - Colombia 3
CR - Costa Rica 3
DO - Repubblica Dominicana 3
KZ - Kazakistan 3
NP - Nepal 3
ET - Etiopia 2
HU - Ungheria 2
KE - Kenya 2
KG - Kirghizistan 2
KH - Cambogia 2
LK - Sri Lanka 2
MD - Moldavia 2
PE - Perù 2
RS - Serbia 2
SK - Slovacchia (Repubblica Slovacca) 2
TN - Tunisia 2
VE - Venezuela 2
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BH - Bahrain 1
BO - Bolivia 1
BW - Botswana 1
BY - Bielorussia 1
CG - Congo 1
CY - Cipro 1
DJ - Gibuti 1
GE - Georgia 1
GH - Ghana 1
GT - Guatemala 1
IL - Israele 1
KW - Kuwait 1
LC - Santa Lucia 1
LT - Lituania 1
Totale 14.101
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Città #
Singapore 765
Southend 748
Fairfield 581
Ho Chi Minh City 570
Ashburn 515
Hanoi 478
Chandler 335
San Jose 335
Hong Kong 277
Woodbridge 258
Wilmington 253
Seattle 233
Houston 226
Cambridge 222
Princeton 189
Santa Clara 188
Dong Ket 165
Ann Arbor 145
Dublin 120
Hefei 106
Beijing 105
Jacksonville 102
Lauterbourg 94
Boardman 92
Da Nang 90
Nanjing 87
Westminster 81
Bologna 77
Haiphong 77
Padova 76
Los Angeles 75
Tokyo 69
Berlin 60
Helsinki 43
Saint Petersburg 41
Shenyang 40
Seoul 39
Biên Hòa 36
Jinan 36
Abidjan 35
Buffalo 34
Redondo Beach 33
Frankfurt am Main 32
Guangzhou 29
Sofia 29
Lomé 28
Munich 27
Ninh Bình 27
Vũng Tàu 27
Mülheim 26
Nanchang 26
Chicago 25
Hebei 25
San Diego 25
Changsha 24
Falls Church 24
Dallas 23
Medford 23
Quận Bình Thạnh 22
Thái Nguyên 22
Bến Tre 21
Ha Long 21
Hải Dương 21
Dearborn 20
São Paulo 20
New York 19
Olalla 19
Brussels 18
Bắc Ninh 17
Can Tho 17
Haikou 17
Milan 17
Bremen 16
Hangzhou 16
Abeokuta 15
Council Bluffs 15
Tianjin 15
Turin 15
Amman 14
Lanzhou 13
Mountain View 13
Norwalk 13
Thái Bình 13
Bengaluru 12
Phủ Lý 12
Shanghai 12
Tân Tiến 12
Zhengzhou 12
London 11
Nha Trang 11
The Dalles 11
Yubileyny 11
Huế 10
Paris 10
Prague 10
Quận Một 10
Redmond 10
Vinh 10
Brooklyn 9
Chennai 9
Totale 9.162
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Nome #
CARE OF GIRLS AND WOMEN WITH TURNER SYNDROME: A GUIDLINE OF THE TURNER SYNDROME STUDY GROUP. 332
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. 305
GERMLINE BRAF MUTATIONS IN NOONAN, LEOPARD, AND CARDIOFACIOCUTANEOUS SYNDROMES: MOLECULAR DIVERSITY AND ASSOCIATED PHENOTYPIC SPECTRUM. 304
Turner syndrome, insulin sensitivity and growth hormone treatment 269
COVID-19 and Immunological Dysregulation: Can Autoantibodies be Useful? 268
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View. 258
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders 243
Acanthosis Nigricans (AN), Glucose Tolerance and Turner Syndrome: Influence of GH-Therapy 240
EARLY TREATMENT WITH GH ALONE IN TURNER SYNDROME: PREPUBERTAL CATCH-UP GROWTH AND WANING EFFECT. 236
Correlations of phenotype and genotype in relation to mor phologic remodelling of the aortic root in patients with Turner's syndrome 236
Mutational spectrum of SHOX gene in 25 Italian pediatric patients with Lèri-Weill dyschondrosteosis (LWD). 219
GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome). 219
Hearing Growth Defects in Turner Syndrome 215
New insights on diabetes in Turner syndrome: results from an observational study in adulthood 215
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks 214
DEVELOPMENTAL SYNDROMES: GROWTH HORMONE DEFICIENCY AND TREATMENT. 211
Glucose tolerance and insulin sensitivity in Turner patients treated with GH: Follow-up until the young adult age 209
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype 204
Mowat-Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature 200
A novel frame-shift mutation in the SHOX gene in a subject with Léri-Weill dyschondrosteosis 200
Gonadoblastoma in Turner syndrome and Y-chromosome-derived material. 200
Cardiofaciocutaneous Syndrome (CFC): A New Case with GH-Deficit and without Mental Retardation (MR) 199
Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption 191
Impact of pubertal timing on growth progression and final height in subjects affected by RASopathies 190
The influence of growth hormone treatment on glucose homeostasis in growthhormone-deficient children: A six-year follow-up study 188
Determination of BMP15 gene dosage in a woman with TS and spontaneous menarche. 188
Efficacy and safety of growth hormone treatment in children with short stature: the Italian cohort of the GeNeSIS clinical study 188
Neuropsychiatric phenotype in a child with pseudohypoparathyroidism. 187
Impaired GH secretion in patients with SHOX deficiency and efficacy of recombinant human GH therapy. 186
The Evolution of Thyroid Function after Presenting with Hashimoto Thyroiditis is Different between Initially Euthyroid Girls with and Those without Turner Syndrome 185
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH) 185
Prevalence of Aortic Dilation in Turner Patients without Congenital Heart Disease (CHD) Studied at Echocardiography and Transthoracic MRI 184
Insulin sensitivity and acanthosis nigricans (AN) in Turner syndrome 180
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. 177
The association with Turner syndrome significantly affects the course of Hashimoto’s thyroiditis in children, irrespective of karyotype 176
The empowerment of translational research: lessons from laminopathies. 175
A syndromic form of pierre robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX 175
The influence of gh treatment on glucose homeostasis in girls with turner syndrome: A 7-year study 174
Copy number determination of hypothyroidism genes by MLPA analysis in patients with hypothyroidism and thyroid hypoplasia 173
Adult height in girls with Turner syndrome treated from before 6 years of age with a fixed per kilogram GH dose 171
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview 170
Improving the diagnosis of 11β-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patient 163
Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed with Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism 163
Epidemiology, presentation and long-term evolution of graves' disease in children, adolescents and young adults with turner syndrome 160
Quality of Life and Psychological Adjustment of Women Living with 46,XY Differences of Sex Development 156
Hearing loss in Turner syndrome: results of a multicentric study. 154
Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data 152
A restricted spectrum of NRAS mutations causes Noonan syndrome. 151
Relationships between thyroid function and autoimmunity with metabolic derangement at the onset of type 1 diabetes: A cross-sectional and longitudinal study 151
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation 148
TUTELA DELLA FERTILITÀ NELLE PAZIENTI AFFETTA DA SINDROME DI TURNER 147
22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review 142
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome 141
Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype. 140
A NOVEL FRAME-SHIFT MUTATION IN THE SHOX GENE IN A SUBJECT WITH LERI-WEIL DYSCHONDROSTEOSIS. 138
Genotyping Patients with Differences of Sex Development: 25 Years of Investigation of an Italian Population of 308 Cases (194 46,XY and 114 46,XX) 137
Noonan syndrome and PTPN11 mutations: clinical findings and growth follow-up with long-term GH therapy 136
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum 136
Interstitial 6q deletion: a new patient with empty sella and GH deficiency 135
Disorders of glucose metabolism in Prader–Willi syndrome: Results of a multicenter Italian cohort study 134
Growth hormone treatment of adolescents with growth hormone deficiency (GHD) during the transition period: Results of a survey among adult and paediatric endocrinologists from Italy. Endorsed by SIEDP/ISPED, AME, SIE, SIMA 131
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients 129
Evaluation of function and structure of arterial wall in girls and young women with Turner syndrome 129
SHOX dosage and final height (FH) in Turner syndrome (TS) treated with GH-therapy 128
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 127
Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype. 126
Rare Syndromes and Hormones Noonan syndrome and PTPN11 mutations: clinical findings and growth follow-up with long-term GH therapy 126
MOLECULAR AND CLINICAL ANALYSES OF GREIG CEPHALOPOLYSYNDACTYLY AND PALLISTER-HALL SYNDROMES: ROBUST PHENOTYPE PREDICTION FROM THE TYPE AND POSITION OF GLI3 MUTATIONS. 121
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16. 119
GAIN OF FUNCTION RAF1 MUTATIONS CAUSE NOONAN AND LEOPARD SYNDROMES WITH HYPERTROPHIC CARDIOMYOPATHY. 119
Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair 119
Stories of experiences of care for growth hormone deficiency: the CRESCERE project 118
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. 117
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes kaufman oculocerebrofacial syndrome 117
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes 115
On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. 114
AUTOIMMUNE DISEASE IN TURNER SYNDROME. 113
Non classical CAH: molecular evaluation of 287 subjects from northern and southern Italy with comparison between genetical and hormonal results. 111
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 109
Gonadal dysgenesis and XY sex reversal in one patient with a deletion of the distal short arm of chromosome 9 (9p). 103
Turner syndrome strategies to improve care outcomes--cardiac evaluation using new imaging techniques. 93
Gastro-intestinal disease in Turner syndrome 86
Laminopathies: Many diseases, one gene. Report of the first Italian meeting course on laminopathies 79
FINAL HEIGHT IN A PATIENT WITH LARON SYNDROME AFTER LONG TERM THERAPY WITH rhIGF-1 AND SHORT TERM THERAPY WITH LHRH-ANALOGUE AND OXANDROLONE DURING PUBERTY. 69
Helicobacter pylori and type 1 diabetes mellitus in children 64
Helicobacter pylori and type 1 diabetes mellitus in children 63
Corrigendum to “Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders” [Gene 706 (2019) 162–171](S037811191930469X)(10.1016/j.gene.2019.05.007) 59
null 42
Totale 14.369
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Categoria #
all - tutte 34.467
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 34.467
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021430 0 0 0 0 0 0 0 0 0 49 43 338
2021/20221.697 223 77 99 157 142 66 52 88 36 105 347 305
2022/20231.490 183 220 91 196 80 107 54 81 251 57 118 52
2023/2024351 23 75 24 28 36 65 21 9 5 30 25 10
2024/20251.606 65 333 132 130 277 89 86 27 20 82 43 322
2025/20265.023 780 566 332 328 448 224 984 250 815 296 0 0
Totale 14.369