CRIS Current Research Information System

BALDAZZI, LILIA
 Distribuzione geografica
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Continente #
NA - Nord America 1.813
EU - Europa 1.427
AS - Asia 752
AF - Africa 138
OC - Oceania 11
SA - Sud America 5
Totale 4.146
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Nazione #
US - Stati Uniti d'America 1.794
GB - Regno Unito 442
DE - Germania 230
CN - Cina 212
SG - Singapore 204
SE - Svezia 190
VN - Vietnam 190
UA - Ucraina 145
IT - Italia 135
IN - India 79
IE - Irlanda 69
FR - Francia 60
RU - Federazione Russa 58
CI - Costa d'Avorio 41
ZA - Sudafrica 33
NG - Nigeria 31
EE - Estonia 23
TG - Togo 21
BG - Bulgaria 19
CA - Canada 18
IL - Israele 14
BE - Belgio 13
JO - Giordania 13
CH - Svizzera 12
AU - Australia 11
JP - Giappone 11
SC - Seychelles 11
FI - Finlandia 9
GR - Grecia 5
IR - Iran 5
TR - Turchia 5
AE - Emirati Arabi Uniti 4
ES - Italia 4
HK - Hong Kong 4
PK - Pakistan 4
RO - Romania 4
TH - Thailandia 4
AR - Argentina 2
CO - Colombia 2
LB - Libano 2
PL - Polonia 2
BR - Brasile 1
CR - Costa Rica 1
DK - Danimarca 1
ET - Etiopia 1
LU - Lussemburgo 1
MD - Moldavia 1
NL - Olanda 1
NO - Norvegia 1
PT - Portogallo 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 4.146
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Città #
Southend 406
Chandler 231
Singapore 185
Fairfield 123
Jacksonville 110
Dong Ket 105
Ashburn 104
Santa Clara 100
Houston 91
Princeton 89
Ann Arbor 73
Wilmington 73
Dublin 67
Woodbridge 59
Seattle 47
Cambridge 46
Boardman 42
Abidjan 41
Westminster 38
Padova 34
Nanjing 31
Abeokuta 30
Berlin 27
Turin 27
Medford 25
Redwood City 24
Lomé 21
Shenyang 21
Sofia 19
Mülheim 18
Saint Petersburg 18
Falls Church 16
Beijing 14
Amman 13
Brussels 11
Jinan 11
Milan 11
Mountain View 11
Nanchang 11
Tacoma 11
Tianjin 11
Hebei 10
Mahé 10
Helsinki 9
Zhengzhou 9
Brookhaven 8
Chennai 8
Dearborn 8
Dortmund 8
Guangzhou 8
Jiaxing 8
Rishon LeTsiyyon 8
Tokyo 8
Bremen 7
Changsha 7
Chicago 7
Hagen 7
New York 7
Ningbo 7
Norwalk 7
Olalla 7
Bologna 6
Los Angeles 6
San Diego 6
Verona 6
Bern 5
Burlington 5
Melle 5
Ramat Gan 5
Bühl 4
Dubai 4
Everett 4
Grand Rapids 4
Leawood 4
Palo Alto 4
Salt Lake City 4
Taiyuan 4
Véry 4
Chongqing 3
Des Moines 3
Haikou 3
Hanover 3
Hayward 3
Hong Kong 3
Istanbul 3
Lüdenscheid 3
Montebello 3
Phoenix 3
Prospect 3
Qingdao 3
Queens 3
Redmond 3
Rochester 3
Roșiorii de Vede 3
Sydney 3
Taizhou 3
Trento 3
Waterloo 3
Wisconsin Rapids 3
Andover 2
Totale 2.748
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Nome #
CYP21A2 AND CYP11B1: FIRST REPORT OF A DIGENIC INHERITANCE IN CAH. 404
A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism 188
A new case of familial mutation in the SRY gene implicated in the pure gonadal dysgenesis in two sisters and in their unaffected father 153
A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of Congenital Adrenal Hyperplasia 149
A novel frame-shift mutation in the SHOX gene in a subject with Léri-Weill dyschondrosteosis 148
A molecular analysis of candidate genes for hypospadias in Italian subjects 132
Analysis of the TSHR gene in patients with isolated hyperthyrotropinemia 131
Functional studies of two novel and two rare mutations in the 21-hydroxylase gene. 131
Study of the NR5A1 gene in a cohort of Italian patients with 46,XY Disorders of Sex Development (DSD) without adrenal insufficiency: identification of 7 novel mutations. 129
Gonadoblastoma in Turner syndrome and Y-chromosome-derived material. 123
A genetic epidemiology study of congenital adrenal hyperplasia in Italy 123
Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism 117
Metabolic Aspects of Patients Followed for Severe Obesity 116
A new case of familial mutation in the SRY gene implicated in the pure gonadal dysgenesis in two sisters and their unaffected father 116
Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis. 113
Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia 112
Two Novel Missense mutations in the GnRHR Gene in Two Siblings with Isolated Hypogonadotropic Hypogonadism 109
Impact of molecular genetics on congenital adrenal hyperplasia management. 108
Identification of rare alleles in an Italian population of 284 patients with 21- hydroxylase deficiency by complete sequencing of the CYP21 gene 103
SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects. 100
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia. 99
Determination of BMP15 gene dosage in a woman with TS and spontaneous menarche. 98
CYP11B1 gene analysis in 3 Italian patients: identification of a new mutation. 96
Tre nuove variazioni di sequenza nel gene dell’AMH in un paziente con sindrome da persistenza dei dotti di Muller. 90
Genotypic and phenotypic variability in 54 subjects with congenital hypopituitarism 88
Three new mutations in androgen receptor gene identified in patients with 46,XY SDS: Complications for genetic counselling 87
SRD5A2 gene analysis in Italian patients with male pseudohermaphroditism. 83
Two novel GnRHR gene mutations in two siblings with hypogonadotropic hypogonadism. Eur J Endocrinol 82
Height outcome and pubertal development in CYP21 genotyped CAH male patients 80
Three new sequence variations of the AMH gene in an Italian patient with persistent Mullerian duct syndrome. 78
HESX1 gene analysis in a population of 45 patients with posterior pituitari ectopia (PPE) and GH deficiency (GHD): two novel mutations associated with a mild phenotype. 74
Gonadal dysgenesis and XY sex reversal in one patient with a deletion of the distal short arm of chromosome 9 (9p). 72
Three Novel AMHGene Mutations in a Patient with Persistent Mullerian Duct Syndrome and Normal AMH Serum Dosage. 71
TSHR gene analysis in paediatric subjects with NASH (non autoimmune subclinical hypothyroidism) not selected by neonatal screening 65
Molecular characterization to predict tetrahydrobiopterin (BH4) responsiveness in phenylalanine hydroxylase (PAH) deficiency 63
The role of 21-hydroxylase in the pathogenesis of adrenal masses: Review of the literature and focus on our own experience. 60
The molecular biology of congenital adrenal hyperplasia in the Mediterranean area 53
null 37
The molecular biology of congenital adrenal hyperplasia in Mediterranean Area 22
Totale 4.203
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Categoria #
all - tutte 9.595
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 9.595
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020483 0 0 0 0 0 63 78 105 84 70 24 59
2020/2021531 109 38 14 37 12 29 14 40 23 37 28 150
2021/2022780 118 35 38 71 60 50 22 34 32 27 161 132
2022/2023937 98 127 55 109 86 75 19 46 185 23 80 34
2023/2024225 9 34 34 19 24 29 13 11 17 23 5 7
2024/2025505 37 160 61 88 122 37 0 0 0 0 0 0
Totale 4.203