CRIS Current Research Information System

BALDAZZI, LILIA
 Distribuzione geografica
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Continente #
AS - Asia 2.577
NA - Nord America 2.509
EU - Europa 1.764
AF - Africa 155
SA - Sud America 137
Continente sconosciuto - Info sul continente non disponibili 68
OC - Oceania 15
Totale 7.225
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Nazione #
US - Stati Uniti d'America 2.443
VN - Vietnam 1.060
SG - Singapore 527
CN - Cina 505
GB - Regno Unito 462
DE - Germania 304
SE - Svezia 192
HK - Hong Kong 179
IT - Italia 175
UA - Ucraina 148
FR - Francia 116
IN - India 98
BR - Brasile 97
RU - Federazione Russa 84
IE - Irlanda 70
NL - Olanda 52
JP - Giappone 49
CI - Costa d'Avorio 44
CA - Canada 41
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
AU - Australia 15
BD - Bangladesh 15
IL - Israele 15
JO - Giordania 15
TR - Turchia 15
CH - Svizzera 13
PH - Filippine 13
SC - Seychelles 12
MX - Messico 10
TH - Thailandia 10
LT - Lituania 9
AT - Austria 8
ES - Italia 8
IQ - Iraq 8
GR - Grecia 6
IR - Iran 6
JM - Giamaica 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
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
MQ - Martinica 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 7.158
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Città #
Southend 406
Singapore 372
Ho Chi Minh City 269
Chandler 231
Ashburn 228
Hanoi 221
San Jose 202
Hong Kong 167
Fairfield 123
Jacksonville 110
Dong Ket 105
Santa Clara 104
Houston 93
Hefei 88
Princeton 88
Ann Arbor 73
Wilmington 73
Dublin 68
Council Bluffs 67
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
Abeokuta 29
Da Nang 29
Turin 29
Berlin 27
Medford 25
Munich 25
Frankfurt am Main 24
Redwood City 24
Helsinki 21
Lomé 21
New York 21
Shenyang 21
Buffalo 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
Dallas 15
Biên Hòa 14
Can Tho 14
Milan 14
The Dalles 14
Jinan 13
Bắc Ninh 12
Chicago 12
Düsseldorf 12
Tianjin 12
Changsha 11
Falkenstein 11
Mountain View 11
Nanchang 11
Tacoma 11
Chennai 10
Ha Long 10
Hebei 10
Mahé 10
Toronto 10
Turku 10
Zhengzhou 10
Bengaluru 9
London 9
Orem 9
Quận Bình Thạnh 9
Brookhaven 8
Dearborn 8
Dortmund 8
Jiaxing 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 4.586
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Nome #
CYP21A2 AND CYP11B1: FIRST REPORT OF A DIGENIC INHERITANCE IN CAH. 528
A new case of familial mutation in the SRY gene implicated in the pure gonadal dysgenesis in two sisters and in their unaffected father 405
The role of 21-hydroxylase in the pathogenesis of adrenal masses: Review of the literature and focus on our own experience. 275
A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of Congenital Adrenal Hyperplasia 264
A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism 262
Impact of molecular genetics on congenital adrenal hyperplasia management. 239
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. 233
Functional studies of two novel and two rare mutations in the 21-hydroxylase gene. 213
Gonadoblastoma in Turner syndrome and Y-chromosome-derived material. 210
Analysis of the TSHR gene in patients with isolated hyperthyrotropinemia 205
A novel frame-shift mutation in the SHOX gene in a subject with Léri-Weill dyschondrosteosis 203
A molecular analysis of candidate genes for hypospadias in Italian subjects 194
Metabolic Aspects of Patients Followed for Severe Obesity 193
Identification of rare alleles in an Italian population of 284 patients with 21- hydroxylase deficiency by complete sequencing of the CYP21 gene 193
Determination of BMP15 gene dosage in a woman with TS and spontaneous menarche. 192
A genetic epidemiology study of congenital adrenal hyperplasia in Italy 187
Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism 184
A new case of familial mutation in the SRY gene implicated in the pure gonadal dysgenesis in two sisters and their unaffected father 183
Two Novel Missense mutations in the GnRHR Gene in Two Siblings with Isolated Hypogonadotropic Hypogonadism 181
Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia 181
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia. 172
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. 169
SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects. 167
CYP11B1 gene analysis in 3 Italian patients: identification of a new mutation. 165
Tre nuove variazioni di sequenza nel gene dell’AMH in un paziente con sindrome da persistenza dei dotti di Muller. 162
Genotypic and phenotypic variability in 54 subjects with congenital hypopituitarism 155
Three new mutations in androgen receptor gene identified in patients with 46,XY SDS: Complications for genetic counselling 151
Height outcome and pubertal development in CYP21 genotyped CAH male patients 146
SRD5A2 gene analysis in Italian patients with male pseudohermaphroditism. 139
Three new sequence variations of the AMH gene in an Italian patient with persistent Mullerian duct syndrome. 136
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. 136
Two novel GnRHR gene mutations in two siblings with hypogonadotropic hypogonadism. Eur J Endocrinol 132
Three Novel AMHGene Mutations in a Patient with Persistent Mullerian Duct Syndrome and Normal AMH Serum Dosage. 129
TSHR gene analysis in paediatric subjects with NASH (non autoimmune subclinical hypothyroidism) not selected by neonatal screening 128
Molecular characterization to predict tetrahydrobiopterin (BH4) responsiveness in phenylalanine hydroxylase (PAH) deficiency 125
Gonadal dysgenesis and XY sex reversal in one patient with a deletion of the distal short arm of chromosome 9 (9p). 104
The molecular biology of congenital adrenal hyperplasia in the Mediterranean area 95
The molecular biology of congenital adrenal hyperplasia in Mediterranean Area 89
Totale 7.225
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Categoria #
all - tutte 16.908
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 16.908
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022662 0 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
2025/20262.524 552 192 167 146 222 122 246 139 426 164 78 70
2026/202792 36 56 0 0 0 0 0 0 0 0 0 0
Totale 7.225