CRIS Current Research Information System

MAZZANTI, LAURA
 Distribuzione geografica
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Continente #
NA - Nord America 4.139
EU - Europa 2.695
AS - Asia 1.501
AF - Africa 163
SA - Sud America 9
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 3
Totale 8.515
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Nazione #
US - Stati Uniti d'America 4.128
GB - Regno Unito 825
CN - Cina 539
SE - Svezia 393
DE - Germania 381
SG - Singapore 380
VN - Vietnam 357
IT - Italia 350
UA - Ucraina 182
IN - India 158
RU - Federazione Russa 127
IE - Irlanda 117
FR - Francia 115
ZA - Sudafrica 76
EE - Estonia 63
BG - Bulgaria 29
CI - Costa d'Avorio 29
TG - Togo 28
FI - Finlandia 19
BE - Belgio 16
CH - Svizzera 15
NG - Nigeria 15
CZ - Repubblica Ceca 13
JP - Giappone 13
JO - Giordania 12
CA - Canada 11
SC - Seychelles 10
IR - Iran 8
PL - Polonia 8
GR - Grecia 6
HK - Hong Kong 6
LB - Libano 6
RO - Romania 6
ES - Italia 5
NL - Olanda 5
AT - Austria 4
AU - Australia 4
BR - Brasile 4
CL - Cile 4
HR - Croazia 4
UZ - Uzbekistan 4
A2 - ???statistics.table.value.countryCode.A2??? 3
LY - Libia 3
MY - Malesia 3
TR - Turchia 3
BD - Bangladesh 2
HU - Ungheria 2
LK - Sri Lanka 2
MD - Moldavia 2
NO - Norvegia 2
AL - Albania 1
BO - Bolivia 1
ID - Indonesia 1
IQ - Iraq 1
KR - Corea 1
LT - Lituania 1
LU - Lussemburgo 1
MA - Marocco 1
NP - Nepal 1
NZ - Nuova Zelanda 1
PH - Filippine 1
PK - Pakistan 1
PT - Portogallo 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
SM - San Marino 1
SY - Repubblica araba siriana 1
TN - Tunisia 1
Totale 8.515
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Città #
Southend 748
Fairfield 581
Chandler 335
Singapore 332
Ashburn 288
Woodbridge 258
Wilmington 251
Seattle 230
Houston 223
Cambridge 222
Princeton 189
Santa Clara 183
Dong Ket 165
Ann Arbor 145
Dublin 117
Jacksonville 102
Boardman 90
Nanjing 83
Westminster 81
Padova 76
Bologna 72
Berlin 60
Saint Petersburg 41
Shenyang 39
Jinan 35
Beijing 33
Abidjan 29
Sofia 29
Lomé 28
Mülheim 26
Nanchang 26
Hebei 25
San Diego 25
Falls Church 24
Medford 23
Changsha 21
Dearborn 20
Olalla 19
Helsinki 18
Bremen 16
Brussels 16
Haikou 16
Abeokuta 15
Frankfurt am Main 14
Guangzhou 14
Los Angeles 14
Lanzhou 13
Mountain View 13
Norwalk 13
Turin 13
Amman 12
Tianjin 12
Hangzhou 11
Milan 11
Prague 10
Redmond 10
Zhengzhou 10
Redwood City 9
Jiaxing 8
Leawood 8
Mahé 8
San Venanzo 8
Tokyo 8
Toronto 8
Frankfurt Am Main 7
Imola 7
New York 7
Shanghai 7
Bern 6
Harbin 6
London 6
Ningbo 6
Paris 6
Taizhou 6
Verona 6
Zanjan 6
Des Moines 5
Florence 5
Fuzhou 5
Hefei 5
Phoenix 5
Washington 5
Xi'an 5
Andover 4
Bühl 4
Changchun 4
Chengdu 4
Costa Mesa 4
Geneve 4
Genoa 4
Hong Kong 4
Kunming 4
Lecco 4
Napoli 4
San Francisco 4
São Paulo 4
Vienna 4
Wuhan 4
Baoding 3
Crespellano 3
Totale 5.759
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Nome #
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. 246
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders 176
Acanthosis Nigricans (AN), Glucose Tolerance and Turner Syndrome: Influence of GH-Therapy 160
A novel frame-shift mutation in the SHOX gene in a subject with Léri-Weill dyschondrosteosis 150
GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome). 146
Mowat-Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature 145
New insights on diabetes in Turner syndrome: results from an observational study in adulthood 145
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View. 143
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH) 138
Impaired GH secretion in patients with SHOX deficiency and efficacy of recombinant human GH therapy. 137
Mutational spectrum of SHOX gene in 25 Italian pediatric patients with Lèri-Weill dyschondrosteosis (LWD). 135
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. 135
DEVELOPMENTAL SYNDROMES: GROWTH HORMONE DEFICIENCY AND TREATMENT. 134
Correlations of phenotype and genotype in relation to mor phologic remodelling of the aortic root in patients with Turner's syndrome 132
Turner syndrome, insulin sensitivity and growth hormone treatment 131
Adult height in girls with Turner syndrome treated from before 6 years of age with a fixed per kilogram GH dose 131
A restricted spectrum of NRAS mutations causes Noonan syndrome. 130
Neuropsychiatric phenotype in a child with pseudohypoparathyroidism. 130
Gonadoblastoma in Turner syndrome and Y-chromosome-derived material. 124
The empowerment of translational research: lessons from laminopathies. 123
EARLY TREATMENT WITH GH ALONE IN TURNER SYNDROME: PREPUBERTAL CATCH-UP GROWTH AND WANING EFFECT. 122
Epidemiology, presentation and long-term evolution of graves' disease in children, adolescents and young adults with turner syndrome 122
GERMLINE BRAF MUTATIONS IN NOONAN, LEOPARD, AND CARDIOFACIOCUTANEOUS SYNDROMES: MOLECULAR DIVERSITY AND ASSOCIATED PHENOTYPIC SPECTRUM. 121
22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review 120
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview 120
Cardiofaciocutaneous Syndrome (CFC): A New Case with GH-Deficit and without Mental Retardation (MR) 119
COVID-19 and Immunological Dysregulation: Can Autoantibodies be Useful? 119
Glucose tolerance and insulin sensitivity in Turner patients treated with GH: Follow-up until the young adult age 118
Prevalence of Aortic Dilation in Turner Patients without Congenital Heart Disease (CHD) Studied at Echocardiography and Transthoracic MRI 116
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype 116
Hearing loss in Turner syndrome: results of a multicentric study. 113
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation 111
CARE OF GIRLS AND WOMEN WITH TURNER SYNDROME: A GUIDLINE OF THE TURNER SYNDROME STUDY GROUP. 110
Copy number determination of hypothyroidism genes by MLPA analysis in patients with hypothyroidism and thyroid hypoplasia 110
Hearing Growth Defects in Turner Syndrome 109
Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype. 107
Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data 104
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks 103
Determination of BMP15 gene dosage in a woman with TS and spontaneous menarche. 99
A syndromic form of pierre robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX 98
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 97
Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype. 97
Improving the diagnosis of 11β-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patient 96
Relationships between thyroid function and autoimmunity with metabolic derangement at the onset of type 1 diabetes: A cross-sectional and longitudinal study 95
Stories of experiences of care for growth hormone deficiency: the CRESCERE project 95
AUTOIMMUNE DISEASE IN TURNER SYNDROME. 95
Interstitial 6q deletion: a new patient with empty sella and GH deficiency 94
The Evolution of Thyroid Function after Presenting with Hashimoto Thyroiditis is Different between Initially Euthyroid Girls with and Those without Turner Syndrome 94
The association with Turner syndrome significantly affects the course of Hashimoto’s thyroiditis in children, irrespective of karyotype 94
MOLECULAR AND CLINICAL ANALYSES OF GREIG CEPHALOPOLYSYNDACTYLY AND PALLISTER-HALL SYNDROMES: ROBUST PHENOTYPE PREDICTION FROM THE TYPE AND POSITION OF GLI3 MUTATIONS. 94
Quality of Life and Psychological Adjustment of Women Living with 46,XY Differences of Sex Development 93
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients 93
TUTELA DELLA FERTILITÀ NELLE PAZIENTI AFFETTA DA SINDROME DI TURNER 91
Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption 91
Evaluation of function and structure of arterial wall in girls and young women with Turner syndrome 90
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome 90
GAIN OF FUNCTION RAF1 MUTATIONS CAUSE NOONAN AND LEOPARD SYNDROMES WITH HYPERTROPHIC CARDIOMYOPATHY. 89
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes kaufman oculocerebrofacial syndrome 88
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16. 87
A NOVEL FRAME-SHIFT MUTATION IN THE SHOX GENE IN A SUBJECT WITH LERI-WEIL DYSCHONDROSTEOSIS. 87
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 86
Noonan syndrome and PTPN11 mutations: clinical findings and growth follow-up with long-term GH therapy 85
Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair 85
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. 84
On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. 84
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 82
Efficacy and safety of growth hormone treatment in children with short stature: the Italian cohort of the GeNeSIS clinical study 82
The influence of growth hormone treatment on glucose homeostasis in growthhormone-deficient children: A six-year follow-up study 81
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes 79
Insulin sensitivity and acanthosis nigricans (AN) in Turner syndrome 78
Disorders of glucose metabolism in Prader–Willi syndrome: Results of a multicenter Italian cohort study 78
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) 78
The influence of gh treatment on glucose homeostasis in girls with turner syndrome: A 7-year study 73
Gonadal dysgenesis and XY sex reversal in one patient with a deletion of the distal short arm of chromosome 9 (9p). 72
SHOX dosage and final height (FH) in Turner syndrome (TS) treated with GH-therapy 70
Rare Syndromes and Hormones Noonan syndrome and PTPN11 mutations: clinical findings and growth follow-up with long-term GH therapy 69
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum 69
Non classical CAH: molecular evaluation of 287 subjects from northern and southern Italy with comparison between genetical and hormonal results. 66
Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed with Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism 63
Turner syndrome strategies to improve care outcomes--cardiac evaluation using new imaging techniques. 60
Gastro-intestinal disease in Turner syndrome 58
Laminopathies: Many diseases, one gene. Report of the first Italian meeting course on laminopathies 50
null 42
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. 29
Helicobacter pylori and type 1 diabetes mellitus in children 21
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) 19
Helicobacter pylori and type 1 diabetes mellitus in children 15
Totale 8.756
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Categoria #
all - tutte 21.409
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 21.409
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.484 0 0 0 0 0 244 281 300 321 145 84 109
2020/20211.065 247 78 31 51 14 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
2024/20251.016 65 333 132 130 277 79 0 0 0 0 0 0
Totale 8.756