CRIS Current Research Information System

MAZZANTI, LAURA
 Distribuzione geografica
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Continente #
NA - Nord America 4.679
AS - Asia 3.660
EU - Europa 2.960
SA - Sud America 249
AF - Africa 188
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 3
Totale 11.744
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Nazione #
US - Stati Uniti d'America 4.644
VN - Vietnam 1.204
SG - Singapore 1.012
CN - Cina 844
GB - Regno Unito 837
DE - Germania 433
SE - Svezia 395
IT - Italia 373
HK - Hong Kong 249
RU - Federazione Russa 196
UA - Ucraina 185
IN - India 184
BR - Brasile 182
FR - Francia 131
IE - Irlanda 117
ZA - Sudafrica 82
EE - Estonia 63
NL - Olanda 53
JP - Giappone 46
KR - Corea 39
CI - Costa d'Avorio 35
AR - Argentina 34
FI - Finlandia 31
BG - Bulgaria 29
TG - Togo 28
BE - Belgio 17
CA - Canada 17
SC - Seychelles 16
CH - Svizzera 15
NG - Nigeria 15
PL - Polonia 14
CZ - Repubblica Ceca 13
JO - Giordania 13
AT - Austria 11
BD - Bangladesh 9
ES - Italia 9
IR - Iran 9
CL - Cile 8
MX - Messico 8
PY - Paraguay 8
ID - Indonesia 7
EC - Ecuador 6
GR - Grecia 6
LB - Libano 6
RO - Romania 6
HR - Croazia 5
TR - Turchia 5
UZ - Uzbekistan 5
AU - Australia 4
IQ - Iraq 4
NO - Norvegia 4
PT - Portogallo 4
UY - Uruguay 4
A2 - ???statistics.table.value.countryCode.A2??? 3
AE - Emirati Arabi Uniti 3
CO - Colombia 3
HN - Honduras 3
LY - Libia 3
MY - Malesia 3
AL - Albania 2
AZ - Azerbaigian 2
DO - Repubblica Dominicana 2
HU - Ungheria 2
KG - Kirghizistan 2
LK - Sri Lanka 2
MD - Moldavia 2
PE - Perù 2
PK - Pakistan 2
SK - Slovacchia (Repubblica Slovacca) 2
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BH - Bahrain 1
BO - Bolivia 1
BW - Botswana 1
CR - Costa Rica 1
CY - Cipro 1
DJ - Gibuti 1
EG - Egitto 1
GE - Georgia 1
GH - Ghana 1
GT - Guatemala 1
IL - Israele 1
KE - Kenya 1
KW - Kuwait 1
KZ - Kazakistan 1
LC - Santa Lucia 1
LT - Lituania 1
LU - Lussemburgo 1
MA - Marocco 1
ML - Mali 1
MW - Malawi 1
NI - Nicaragua 1
NP - Nepal 1
NZ - Nuova Zelanda 1
PH - Filippine 1
RS - Serbia 1
SA - Arabia Saudita 1
SM - San Marino 1
SY - Repubblica araba siriana 1
TN - Tunisia 1
Totale 11.743
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Città #
Southend 748
Singapore 654
Fairfield 581
Ashburn 493
Chandler 335
Ho Chi Minh City 265
Woodbridge 258
Wilmington 253
Hong Kong 247
Seattle 233
Houston 224
Cambridge 222
Hanoi 209
Princeton 189
Santa Clara 185
Dong Ket 165
Ann Arbor 145
Dublin 117
Hefei 105
Beijing 103
Jacksonville 102
Boardman 92
Nanjing 84
Westminster 81
Padova 76
Bologna 74
Los Angeles 64
Berlin 60
Saint Petersburg 41
Shenyang 40
Tokyo 39
Seoul 38
Jinan 36
Abidjan 35
Buffalo 34
Haiphong 33
Redondo Beach 33
Sofia 29
Lomé 28
Munich 27
Mülheim 26
Nanchang 26
Da Nang 25
Frankfurt am Main 25
Hebei 25
San Diego 25
Chicago 24
Falls Church 24
Medford 23
Biên Hòa 22
Dallas 22
Helsinki 22
Changsha 21
Dearborn 20
Ha Long 19
Olalla 19
Quận Bình Thạnh 19
Guangzhou 18
Brussels 17
São Paulo 17
Thái Nguyên 17
Bremen 16
Haikou 16
Ninh Bình 16
Vũng Tàu 16
Abeokuta 15
New York 15
Tianjin 15
Turin 15
Milan 14
Amman 13
Lanzhou 13
Mountain View 13
Norwalk 13
Bengaluru 12
Hangzhou 12
Zhengzhou 12
Yubileyny 11
Bắc Ninh 10
Prague 10
Redmond 10
Vinh 10
Falkenstein 9
Hải Dương 9
London 9
Redwood City 9
Jiaxing 8
Leawood 8
Mahé 8
Phoenix 8
Phủ Lý 8
Quận Bảy 8
Quận Phú Nhuận 8
San Francisco 8
San Venanzo 8
Shanghai 8
Toronto 8
Turku 8
Vienna 8
Brooklyn 7
Totale 7.657
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Nome #
CARE OF GIRLS AND WOMEN WITH TURNER SYNDROME: A GUIDLINE OF THE TURNER SYNDROME STUDY GROUP. 324
GERMLINE BRAF MUTATIONS IN NOONAN, LEOPARD, AND CARDIOFACIOCUTANEOUS SYNDROMES: MOLECULAR DIVERSITY AND ASSOCIATED PHENOTYPIC SPECTRUM. 294
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. 276
Turner syndrome, insulin sensitivity and growth hormone treatment 255
EARLY TREATMENT WITH GH ALONE IN TURNER SYNDROME: PREPUBERTAL CATCH-UP GROWTH AND WANING EFFECT. 223
Acanthosis Nigricans (AN), Glucose Tolerance and Turner Syndrome: Influence of GH-Therapy 214
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders 214
GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome). 201
Mutational spectrum of SHOX gene in 25 Italian pediatric patients with Lèri-Weill dyschondrosteosis (LWD). 200
New insights on diabetes in Turner syndrome: results from an observational study in adulthood 190
DEVELOPMENTAL SYNDROMES: GROWTH HORMONE DEFICIENCY AND TREATMENT. 186
Glucose tolerance and insulin sensitivity in Turner patients treated with GH: Follow-up until the young adult age 182
A novel frame-shift mutation in the SHOX gene in a subject with Léri-Weill dyschondrosteosis 181
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View. 181
Mowat-Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature 180
Impaired GH secretion in patients with SHOX deficiency and efficacy of recombinant human GH therapy. 175
The influence of growth hormone treatment on glucose homeostasis in growthhormone-deficient children: A six-year follow-up study 173
The Evolution of Thyroid Function after Presenting with Hashimoto Thyroiditis is Different between Initially Euthyroid Girls with and Those without Turner Syndrome 172
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH) 166
Cardiofaciocutaneous Syndrome (CFC): A New Case with GH-Deficit and without Mental Retardation (MR) 165
The association with Turner syndrome significantly affects the course of Hashimoto’s thyroiditis in children, irrespective of karyotype 164
Prevalence of Aortic Dilation in Turner Patients without Congenital Heart Disease (CHD) Studied at Echocardiography and Transthoracic MRI 161
Neuropsychiatric phenotype in a child with pseudohypoparathyroidism. 161
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype 161
COVID-19 and Immunological Dysregulation: Can Autoantibodies be Useful? 161
Correlations of phenotype and genotype in relation to mor phologic remodelling of the aortic root in patients with Turner's syndrome 160
Gonadoblastoma in Turner syndrome and Y-chromosome-derived material. 159
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. 159
A syndromic form of pierre robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX 158
Adult height in girls with Turner syndrome treated from before 6 years of age with a fixed per kilogram GH dose 156
The empowerment of translational research: lessons from laminopathies. 154
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview 145
A restricted spectrum of NRAS mutations causes Noonan syndrome. 144
Copy number determination of hypothyroidism genes by MLPA analysis in patients with hypothyroidism and thyroid hypoplasia 144
Hearing loss in Turner syndrome: results of a multicentric study. 140
Epidemiology, presentation and long-term evolution of graves' disease in children, adolescents and young adults with turner syndrome 139
Improving the diagnosis of 11β-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patient 136
Determination of BMP15 gene dosage in a woman with TS and spontaneous menarche. 136
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation 134
Hearing Growth Defects in Turner Syndrome 133
Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data 132
22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review 130
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks 129
Quality of Life and Psychological Adjustment of Women Living with 46,XY Differences of Sex Development 128
Relationships between thyroid function and autoimmunity with metabolic derangement at the onset of type 1 diabetes: A cross-sectional and longitudinal study 125
Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype. 124
TUTELA DELLA FERTILITÀ NELLE PAZIENTI AFFETTA DA SINDROME DI TURNER 123
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome 121
Interstitial 6q deletion: a new patient with empty sella and GH deficiency 119
A NOVEL FRAME-SHIFT MUTATION IN THE SHOX GENE IN A SUBJECT WITH LERI-WEIL DYSCHONDROSTEOSIS. 118
Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption 116
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 114
Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype. 114
Noonan syndrome and PTPN11 mutations: clinical findings and growth follow-up with long-term GH therapy 113
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 113
Disorders of glucose metabolism in Prader–Willi syndrome: Results of a multicenter Italian cohort study 112
MOLECULAR AND CLINICAL ANALYSES OF GREIG CEPHALOPOLYSYNDACTYLY AND PALLISTER-HALL SYNDROMES: ROBUST PHENOTYPE PREDICTION FROM THE TYPE AND POSITION OF GLI3 MUTATIONS. 112
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients 111
Evaluation of function and structure of arterial wall in girls and young women with Turner syndrome 111
Impact of pubertal timing on growth progression and final height in subjects affected by RASopathies 108
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16. 108
GAIN OF FUNCTION RAF1 MUTATIONS CAUSE NOONAN AND LEOPARD SYNDROMES WITH HYPERTROPHIC CARDIOMYOPATHY. 108
Stories of experiences of care for growth hormone deficiency: the CRESCERE project 108
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) 108
AUTOIMMUNE DISEASE IN TURNER SYNDROME. 106
Efficacy and safety of growth hormone treatment in children with short stature: the Italian cohort of the GeNeSIS clinical study 105
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. 104
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes kaufman oculocerebrofacial syndrome 104
Insulin sensitivity and acanthosis nigricans (AN) in Turner syndrome 103
Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair 103
Rare Syndromes and Hormones Noonan syndrome and PTPN11 mutations: clinical findings and growth follow-up with long-term GH therapy 102
On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. 101
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes 100
The influence of gh treatment on glucose homeostasis in girls with turner syndrome: A 7-year study 100
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum 100
SHOX dosage and final height (FH) in Turner syndrome (TS) treated with GH-therapy 99
Non classical CAH: molecular evaluation of 287 subjects from northern and southern Italy with comparison between genetical and hormonal results. 94
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 92
Gonadal dysgenesis and XY sex reversal in one patient with a deletion of the distal short arm of chromosome 9 (9p). 88
Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed with Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism 86
Turner syndrome strategies to improve care outcomes--cardiac evaluation using new imaging techniques. 79
Gastro-intestinal disease in Turner syndrome 73
Laminopathies: Many diseases, one gene. Report of the first Italian meeting course on laminopathies 67
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. 52
Helicobacter pylori and type 1 diabetes mellitus in children 46
Helicobacter pylori and type 1 diabetes mellitus in children 42
null 42
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) 39
Totale 11.989
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Categoria #
all - tutte 31.164
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 31.164
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021644 0 0 0 0 0 40 4 68 102 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
2025/20262.643 780 566 332 328 448 189 0 0 0 0 0 0
Totale 11.989