CRIS Current Research Information System

BALDAZZI, LILIA
 Distribuzione geografica
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Continente #
AS - Asia 2.558
NA - Nord America 2.341
EU - Europa 1.748
AF - Africa 155
SA - Sud America 127
OC - Oceania 11
Continente sconosciuto - Info sul continente non disponibili 1
Totale 6.941
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Nazione #
US - Stati Uniti d'America 2.288
VN - Vietnam 1.060
SG - Singapore 525
CN - Cina 503
GB - Regno Unito 462
DE - Germania 303
SE - Svezia 192
HK - Hong Kong 173
IT - Italia 162
UA - Ucraina 148
FR - Francia 116
IN - India 98
BR - Brasile 88
RU - Federazione Russa 84
IE - Irlanda 70
NL - Olanda 52
JP - Giappone 49
CI - Costa d'Avorio 44
CA - Canada 35
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
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
BD - Bangladesh 7
GR - Grecia 6
IR - Iran 6
AE - Emirati Arabi Uniti 5
PK - Pakistan 5
PL - Polonia 5
TW - Taiwan 5
CO - Colombia 4
EC - Ecuador 4
HN - Honduras 4
ID - Indonesia 4
RO - Romania 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
JM - Giamaica 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 6.941
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Città #
Southend 406
Singapore 370
Ho Chi Minh City 269
Chandler 231
Hanoi 221
Ashburn 217
San Jose 185
Hong Kong 161
Fairfield 123
Jacksonville 110
Dong Ket 105
Santa Clara 101
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
Tokyo 41
Lauterbourg 40
Los Angeles 39
Westminster 38
Haiphong 37
Padova 34
Nanjing 32
Abeokuta 29
Da Nang 29
Berlin 27
Turin 27
Medford 25
Munich 25
Redwood City 24
Frankfurt am Main 23
Helsinki 21
Lomé 21
Shenyang 21
Seoul 20
Buffalo 19
Guangzhou 19
Sofia 19
Brussels 18
Mülheim 18
Saint Petersburg 18
New York 17
Bologna 16
Falls Church 16
Hải Dương 16
Amman 15
Biên Hòa 14
Can Tho 14
São Paulo 14
The Dalles 14
Dallas 13
Jinan 13
Milan 13
Bắc Ninh 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
Turku 10
Zhengzhou 10
Bengaluru 9
Chicago 9
Quận Bình Thạnh 9
Toronto 9
Brookhaven 8
Dearborn 8
Dortmund 8
Jiaxing 8
London 8
Orem 8
Rishon LeTsiyyon 8
Thái Nguyên 8
Vũng Tàu 8
Bremen 7
Hagen 7
Norwalk 7
Olalla 7
Phoenix 7
Quận Phú Nhuận 7
Ningbo 6
Ninh Bình 6
Phan Thiết 6
Quận Bốn 6
Quận Mười 6
Quận Một 6
Totale 4.457
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Nome #
CYP21A2 AND CYP11B1: FIRST REPORT OF A DIGENIC INHERITANCE IN CAH. 510
A new case of familial mutation in the SRY gene implicated in the pure gonadal dysgenesis in two sisters and in their unaffected father 399
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 257
A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism 256
Impact of molecular genetics on congenital adrenal hyperplasia management. 234
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. 228
Functional studies of two novel and two rare mutations in the 21-hydroxylase gene. 206
Gonadoblastoma in Turner syndrome and Y-chromosome-derived material. 202
A novel frame-shift mutation in the SHOX gene in a subject with Léri-Weill dyschondrosteosis 200
Analysis of the TSHR gene in patients with isolated hyperthyrotropinemia 199
A molecular analysis of candidate genes for hypospadias in Italian subjects 189
Determination of BMP15 gene dosage in a woman with TS and spontaneous menarche. 188
Metabolic Aspects of Patients Followed for Severe Obesity 185
A genetic epidemiology study of congenital adrenal hyperplasia in Italy 184
Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism 180
Two Novel Missense mutations in the GnRHR Gene in Two Siblings with Isolated Hypogonadotropic Hypogonadism 178
Identification of rare alleles in an Italian population of 284 patients with 21- hydroxylase deficiency by complete sequencing of the CYP21 gene 176
A new case of familial mutation in the SRY gene implicated in the pure gonadal dysgenesis in two sisters and their unaffected father 176
Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia 173
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia. 170
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. 162
CYP11B1 gene analysis in 3 Italian patients: identification of a new mutation. 159
Tre nuove variazioni di sequenza nel gene dell’AMH in un paziente con sindrome da persistenza dei dotti di Muller. 158
SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects. 158
Three new mutations in androgen receptor gene identified in patients with 46,XY SDS: Complications for genetic counselling 148
Genotypic and phenotypic variability in 54 subjects with congenital hypopituitarism 143
Height outcome and pubertal development in CYP21 genotyped CAH male patients 143
Three new sequence variations of the AMH gene in an Italian patient with persistent Mullerian duct syndrome. 131
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. 131
SRD5A2 gene analysis in Italian patients with male pseudohermaphroditism. 130
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. 127
TSHR gene analysis in paediatric subjects with NASH (non autoimmune subclinical hypothyroidism) not selected by neonatal screening 126
Molecular characterization to predict tetrahydrobiopterin (BH4) responsiveness in phenylalanine hydroxylase (PAH) deficiency 122
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 90
The molecular biology of congenital adrenal hyperplasia in Mediterranean Area 84
Totale 7.008
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Categoria #
all - tutte 15.623
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 15.623
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021178 0 0 0 0 0 0 0 0 0 0 28 150
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
2025/20262.399 552 192 167 146 222 122 246 139 426 164 23 0
Totale 7.008