CRIS Current Research Information System

BALDAZZI, LILIA
 Distribuzione geografica
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Continente #
AS - Asia 2.569
NA - Nord America 2.435
EU - Europa 1.758
AF - Africa 155
SA - Sud America 135
OC - Oceania 11
Continente sconosciuto - Info sul continente non disponibili 1
Totale 7.064
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Nazione #
US - Stati Uniti d'America 2.378
VN - Vietnam 1.060
SG - Singapore 525
CN - Cina 504
GB - Regno Unito 462
DE - Germania 304
SE - Svezia 192
HK - Hong Kong 176
IT - Italia 169
UA - Ucraina 148
FR - Francia 116
IN - India 98
BR - Brasile 95
RU - Federazione Russa 84
IE - Irlanda 70
NL - Olanda 52
JP - Giappone 49
CI - Costa d'Avorio 44
CA - Canada 37
ZA - Sudafrica 35
FI - Finlandia 32
NG - Nigeria 31
KR - Corea 25
AR - Argentina 23
EE - Estonia 23
TG - Togo 21
BE - Belgio 20
BG - Bulgaria 19
JO - Giordania 15
TR - Turchia 15
BD - Bangladesh 14
IL - Israele 14
CH - Svizzera 13
PH - Filippine 13
SC - Seychelles 12
AU - Australia 11
TH - Thailandia 10
LT - Lituania 9
AT - Austria 8
ES - Italia 8
IQ - Iraq 8
MX - Messico 8
GR - Grecia 6
IR - Iran 6
RO - Romania 6
AE - Emirati Arabi Uniti 5
EC - Ecuador 5
PK - Pakistan 5
PL - Polonia 5
TW - Taiwan 5
CO - Colombia 4
HN - Honduras 4
ID - Indonesia 4
JM - Giamaica 4
UZ - Uzbekistan 4
CL - Cile 3
MA - Marocco 3
PT - Portogallo 3
SA - Arabia Saudita 3
CR - Costa Rica 2
EG - Egitto 2
ET - Etiopia 2
KE - Kenya 2
LB - Libano 2
LV - Lettonia 2
MK - Macedonia 2
MY - Malesia 2
OM - Oman 2
PS - Palestinian Territory 2
AO - Angola 1
BO - Bolivia 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
KH - Cambogia 1
KM - Comore 1
LU - Lussemburgo 1
MD - Moldavia 1
MM - Myanmar 1
NI - Nicaragua 1
NO - Norvegia 1
NP - Nepal 1
PE - Perù 1
PY - Paraguay 1
SK - Slovacchia (Repubblica Slovacca) 1
TN - Tunisia 1
UY - Uruguay 1
VE - Venezuela 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 7.064
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Città #
Southend 406
Singapore 370
Ho Chi Minh City 269
Chandler 231
Ashburn 226
Hanoi 221
San Jose 202
Hong Kong 164
Fairfield 123
Jacksonville 110
Dong Ket 105
Santa Clara 102
Houston 93
Hefei 88
Princeton 87
Ann Arbor 73
Wilmington 73
Dublin 68
Beijing 61
Woodbridge 59
Seattle 48
Cambridge 46
Abidjan 44
Boardman 42
Los Angeles 41
Tokyo 41
Lauterbourg 40
Westminster 38
Haiphong 37
Padova 34
Nanjing 32
Council Bluffs 30
Abeokuta 29
Da Nang 29
Berlin 27
Turin 27
Medford 25
Munich 25
Frankfurt am Main 24
Redwood City 24
Helsinki 21
Lomé 21
Shenyang 21
Buffalo 20
New York 20
Seoul 20
São Paulo 20
Guangzhou 19
Sofia 19
Brussels 18
Mülheim 18
Saint Petersburg 18
Bologna 16
Falls Church 16
Hải Dương 16
Amman 15
Biên Hòa 14
Can Tho 14
Dallas 14
The Dalles 14
Jinan 13
Milan 13
Bắc Ninh 12
Düsseldorf 12
Tianjin 12
Changsha 11
Chicago 11
Falkenstein 11
Mountain View 11
Nanchang 11
Tacoma 11
Chennai 10
Ha Long 10
Hebei 10
Mahé 10
Turku 10
Zhengzhou 10
Bengaluru 9
London 9
Quận Bình Thạnh 9
Toronto 9
Brookhaven 8
Dearborn 8
Dortmund 8
Jiaxing 8
Orem 8
Phoenix 8
Rishon LeTsiyyon 8
San Francisco 8
Thái Nguyên 8
Vũng Tàu 8
Bremen 7
Hagen 7
Norwalk 7
Olalla 7
Quận Phú Nhuận 7
Ningbo 6
Ninh Bình 6
Phan Thiết 6
Quận Bốn 6
Totale 4.531
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Nome #
CYP21A2 AND CYP11B1: FIRST REPORT OF A DIGENIC INHERITANCE IN CAH. 515
A new case of familial mutation in the SRY gene implicated in the pure gonadal dysgenesis in two sisters and in their unaffected father 403
The role of 21-hydroxylase in the pathogenesis of adrenal masses: Review of the literature and focus on our own experience. 273
A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of Congenital Adrenal Hyperplasia 261
A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism 260
Impact of molecular genetics on congenital adrenal hyperplasia management. 237
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. 231
Functional studies of two novel and two rare mutations in the 21-hydroxylase gene. 212
Gonadoblastoma in Turner syndrome and Y-chromosome-derived material. 205
Analysis of the TSHR gene in patients with isolated hyperthyrotropinemia 202
A novel frame-shift mutation in the SHOX gene in a subject with Léri-Weill dyschondrosteosis 201
A molecular analysis of candidate genes for hypospadias in Italian subjects 193
Determination of BMP15 gene dosage in a woman with TS and spontaneous menarche. 191
Metabolic Aspects of Patients Followed for Severe Obesity 190
Identification of rare alleles in an Italian population of 284 patients with 21- hydroxylase deficiency by complete sequencing of the CYP21 gene 188
A genetic epidemiology study of congenital adrenal hyperplasia in Italy 185
Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism 183
A new case of familial mutation in the SRY gene implicated in the pure gonadal dysgenesis in two sisters and their unaffected father 181
Two Novel Missense mutations in the GnRHR Gene in Two Siblings with Isolated Hypogonadotropic Hypogonadism 180
Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia 176
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia. 171
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. 167
SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects. 164
CYP11B1 gene analysis in 3 Italian patients: identification of a new mutation. 162
Tre nuove variazioni di sequenza nel gene dell’AMH in un paziente con sindrome da persistenza dei dotti di Muller. 159
Genotypic and phenotypic variability in 54 subjects with congenital hypopituitarism 153
Three new mutations in androgen receptor gene identified in patients with 46,XY SDS: Complications for genetic counselling 150
Height outcome and pubertal development in CYP21 genotyped CAH male patients 144
SRD5A2 gene analysis in Italian patients with male pseudohermaphroditism. 137
Three new sequence variations of the AMH gene in an Italian patient with persistent Mullerian duct syndrome. 133
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. 133
Two novel GnRHR gene mutations in two siblings with hypogonadotropic hypogonadism. Eur J Endocrinol 130
Three Novel AMHGene Mutations in a Patient with Persistent Mullerian Duct Syndrome and Normal AMH Serum Dosage. 128
TSHR gene analysis in paediatric subjects with NASH (non autoimmune subclinical hypothyroidism) not selected by neonatal screening 127
Molecular characterization to predict tetrahydrobiopterin (BH4) responsiveness in phenylalanine hydroxylase (PAH) deficiency 124
Gonadal dysgenesis and XY sex reversal in one patient with a deletion of the distal short arm of chromosome 9 (9p). 103
The molecular biology of congenital adrenal hyperplasia in the Mediterranean area 92
The molecular biology of congenital adrenal hyperplasia in Mediterranean Area 87
Totale 7.131
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Categoria #
all - tutte 16.394
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 16.394
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021150 0 0 0 0 0 0 0 0 0 0 0 150
2021/2022780 118 35 38 71 60 50 22 34 32 27 161 132
2022/2023927 96 127 55 107 85 75 19 46 183 22 79 33
2023/2024221 9 33 33 18 24 29 12 11 17 23 5 7
2024/2025925 37 158 59 88 119 65 37 36 0 82 34 210
2025/20262.522 552 192 167 146 222 122 246 139 426 164 78 68
Totale 7.131