CRIS Current Research Information System

BALDAZZI, LILIA
 Distribuzione geografica
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Continente #
NA - Nord America 2.057
AS - Asia 1.958
EU - Europa 1.674
AF - Africa 148
SA - Sud America 110
OC - Oceania 11
Totale 5.958
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Nazione #
US - Stati Uniti d'America 2.014
VN - Vietnam 674
SG - Singapore 483
GB - Regno Unito 458
CN - Cina 445
DE - Germania 296
SE - Svezia 191
IT - Italia 159
UA - Ucraina 146
HK - Hong Kong 137
IN - India 91
RU - Federazione Russa 84
FR - Francia 77
BR - Brasile 76
IE - Irlanda 70
NL - Olanda 51
CI - Costa d'Avorio 43
JP - Giappone 38
ZA - Sudafrica 35
NG - Nigeria 31
CA - Canada 27
FI - Finlandia 24
EE - Estonia 23
TG - Togo 21
AR - Argentina 20
KR - Corea 20
BG - Bulgaria 19
BE - Belgio 18
IL - Israele 14
JO - Giordania 14
CH - Svizzera 13
SC - Seychelles 12
AU - Australia 11
TR - Turchia 11
LT - Lituania 9
AT - Austria 8
MX - Messico 8
ES - Italia 7
GR - Grecia 6
IR - Iran 6
AE - Emirati Arabi Uniti 5
PL - Polonia 5
CO - Colombia 4
EC - Ecuador 4
HN - Honduras 4
PK - Pakistan 4
RO - Romania 4
TH - Thailandia 4
CL - Cile 3
ID - Indonesia 3
BD - Bangladesh 2
CR - Costa Rica 2
ET - Etiopia 2
IQ - Iraq 2
LB - Libano 2
MA - Marocco 2
DK - Danimarca 1
DO - Repubblica Dominicana 1
EG - Egitto 1
JM - Giamaica 1
KH - Cambogia 1
LU - Lussemburgo 1
MD - Moldavia 1
MY - Malesia 1
NO - Norvegia 1
PE - Perù 1
PT - Portogallo 1
PY - Paraguay 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
TN - Tunisia 1
UY - Uruguay 1
Totale 5.958
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Città #
Southend 406
Singapore 334
Chandler 231
Ashburn 208
Ho Chi Minh City 161
Hong Kong 135
Hanoi 124
Fairfield 123
Jacksonville 110
Dong Ket 105
Santa Clara 100
Houston 93
Hefei 88
Princeton 87
Ann Arbor 73
Wilmington 73
Dublin 68
Beijing 60
Woodbridge 59
Seattle 48
Cambridge 46
Abidjan 43
Boardman 42
Westminster 38
Tokyo 35
Padova 34
Los Angeles 31
Nanjing 31
Abeokuta 29
Berlin 27
Turin 27
Medford 25
Munich 25
Redwood City 24
Lomé 21
Shenyang 21
Seoul 20
Buffalo 19
Frankfurt am Main 19
Sofia 19
Mülheim 18
Saint Petersburg 18
Bologna 16
Brussels 16
Falls Church 16
Haiphong 16
Amman 14
Da Nang 13
Guangzhou 13
Helsinki 13
New York 13
Can Tho 12
Düsseldorf 12
Jinan 12
Milan 12
São Paulo 12
Tianjin 12
Falkenstein 11
Hải Dương 11
Mountain View 11
Nanchang 11
Tacoma 11
Changsha 10
Hebei 10
Mahé 10
Turku 10
Zhengzhou 10
Bengaluru 9
Biên Hòa 9
Chicago 9
Ha Long 9
Quận Bình Thạnh 9
The Dalles 9
Brookhaven 8
Chennai 8
Dearborn 8
Dortmund 8
Jiaxing 8
Rishon LeTsiyyon 8
Bremen 7
Bắc Ninh 7
Hagen 7
Norwalk 7
Olalla 7
Quận Phú Nhuận 7
Vũng Tàu 7
Ningbo 6
Phan Thiết 6
Phoenix 6
Quận Bốn 6
Quận Một 6
Redondo Beach 6
San Diego 6
Thái Nguyên 6
Verona 6
Vienna 6
Bern 5
Burlington 5
Dallas 5
London 5
Totale 3.836
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Nome #
CYP21A2 AND CYP11B1: FIRST REPORT OF A DIGENIC INHERITANCE IN CAH. 470
A new case of familial mutation in the SRY gene implicated in the pure gonadal dysgenesis in two sisters and in their unaffected father 375
The role of 21-hydroxylase in the pathogenesis of adrenal masses: Review of the literature and focus on our own experience. 259
A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism 240
A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of Congenital Adrenal Hyperplasia 220
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. 203
Analysis of the TSHR gene in patients with isolated hyperthyrotropinemia 183
A novel frame-shift mutation in the SHOX gene in a subject with Léri-Weill dyschondrosteosis 181
Functional studies of two novel and two rare mutations in the 21-hydroxylase gene. 180
Metabolic Aspects of Patients Followed for Severe Obesity 168
A molecular analysis of candidate genes for hypospadias in Italian subjects 163
Gonadoblastoma in Turner syndrome and Y-chromosome-derived material. 160
Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism 157
A genetic epidemiology study of congenital adrenal hyperplasia in Italy 156
Two Novel Missense mutations in the GnRHR Gene in Two Siblings with Isolated Hypogonadotropic Hypogonadism 154
Identification of rare alleles in an Italian population of 284 patients with 21- hydroxylase deficiency by complete sequencing of the CYP21 gene 153
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia. 143
A new case of familial mutation in the SRY gene implicated in the pure gonadal dysgenesis in two sisters and their unaffected father 142
Impact of molecular genetics on congenital adrenal hyperplasia management. 142
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. 141
Tre nuove variazioni di sequenza nel gene dell’AMH in un paziente con sindrome da persistenza dei dotti di Muller. 140
CYP11B1 gene analysis in 3 Italian patients: identification of a new mutation. 140
Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia 140
Determination of BMP15 gene dosage in a woman with TS and spontaneous menarche. 136
SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects. 133
Three new mutations in androgen receptor gene identified in patients with 46,XY SDS: Complications for genetic counselling 123
SRD5A2 gene analysis in Italian patients with male pseudohermaphroditism. 119
Genotypic and phenotypic variability in 54 subjects with congenital hypopituitarism 119
Height outcome and pubertal development in CYP21 genotyped CAH male patients 119
Two novel GnRHR gene mutations in two siblings with hypogonadotropic hypogonadism. Eur J Endocrinol 114
Three new sequence variations of the AMH gene in an Italian patient with persistent Mullerian duct syndrome. 111
Three Novel AMHGene Mutations in a Patient with Persistent Mullerian Duct Syndrome and Normal AMH Serum Dosage. 108
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. 105
Molecular characterization to predict tetrahydrobiopterin (BH4) responsiveness in phenylalanine hydroxylase (PAH) deficiency 102
TSHR gene analysis in paediatric subjects with NASH (non autoimmune subclinical hypothyroidism) not selected by neonatal screening 100
Gonadal dysgenesis and XY sex reversal in one patient with a deletion of the distal short arm of chromosome 9 (9p). 88
The molecular biology of congenital adrenal hyperplasia in the Mediterranean area 69
The molecular biology of congenital adrenal hyperplasia in Mediterranean Area 59
Totale 6.015
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Categoria #
all - tutte 14.195
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 14.195
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021292 0 0 0 0 0 0 14 40 23 37 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
2025/20261.406 552 192 167 146 222 122 5 0 0 0 0 0
Totale 6.015