CRIS Current Research Information System

MENABO', SOARA
 Distribuzione geografica
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Continente #
NA - Nord America 2.480
AS - Asia 2.341
EU - Europa 1.748
AF - Africa 168
SA - Sud America 147
OC - Oceania 11
Continente sconosciuto - Info sul continente non disponibili 1
Totale 6.896
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Nazione #
US - Stati Uniti d'America 2.429
VN - Vietnam 745
SG - Singapore 576
CN - Cina 530
GB - Regno Unito 436
DE - Germania 288
IT - Italia 225
SE - Svezia 200
HK - Hong Kong 178
FR - Francia 113
UA - Ucraina 107
IN - India 100
BR - Brasile 98
RU - Federazione Russa 96
IE - Irlanda 66
JP - Giappone 55
NL - Olanda 52
CI - Costa d'Avorio 40
NG - Nigeria 39
CA - Canada 37
ZA - Sudafrica 36
FI - Finlandia 34
EE - Estonia 24
KR - Corea 24
AR - Argentina 23
TG - Togo 22
BE - Belgio 16
CH - Svizzera 16
JO - Giordania 15
IL - Israele 14
TH - Thailandia 14
TR - Turchia 13
BG - Bulgaria 12
PH - Filippine 12
AU - Australia 11
SC - Seychelles 11
CZ - Repubblica Ceca 10
IQ - Iraq 9
BD - Bangladesh 8
EC - Ecuador 8
PK - Pakistan 8
SA - Arabia Saudita 8
AT - Austria 7
ES - Italia 7
GR - Grecia 6
LT - Lituania 6
MA - Marocco 6
MX - Messico 6
PL - Polonia 6
CO - Colombia 5
ID - Indonesia 5
IR - Iran 5
UZ - Uzbekistan 5
AE - Emirati Arabi Uniti 4
CL - Cile 4
RO - Romania 4
EG - Egitto 3
KE - Kenya 3
MY - Malesia 3
NO - Norvegia 3
PE - Perù 3
PT - Portogallo 3
TW - Taiwan 3
AO - Angola 2
CR - Costa Rica 2
DO - Repubblica Dominicana 2
ET - Etiopia 2
HN - Honduras 2
MK - Macedonia 2
PY - Paraguay 2
RS - Serbia 2
TN - Tunisia 2
UY - Uruguay 2
AL - Albania 1
AZ - Azerbaigian 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BO - Bolivia 1
DK - Danimarca 1
GE - Georgia 1
HR - Croazia 1
KH - Cambogia 1
KM - Comore 1
LB - Libano 1
LU - Lussemburgo 1
LV - Lettonia 1
MM - Myanmar 1
MW - Malawi 1
NI - Nicaragua 1
OM - Oman 1
PS - Palestinian Territory 1
SK - Slovacchia (Repubblica Slovacca) 1
VE - Venezuela 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 6.896
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Città #
Singapore 405
Southend 374
Ashburn 255
Chandler 241
San Jose 191
Ho Chi Minh City 180
Hong Kong 165
Hanoi 149
Fairfield 107
Princeton 91
Santa Clara 91
Ann Arbor 88
Houston 84
Jacksonville 78
Beijing 68
Hefei 68
Wilmington 67
Dublin 66
Dong Ket 55
Woodbridge 55
Los Angeles 50
Boardman 45
Tokyo 44
Cambridge 43
Abidjan 40
Abeokuta 39
Lauterbourg 39
Seattle 39
Westminster 39
Bologna 37
Nanjing 35
Haiphong 33
Redwood City 31
Padova 30
Berlin 29
Turin 29
Helsinki 28
Medford 27
New York 26
Da Nang 25
Shenyang 24
Lomé 22
Saint Petersburg 21
Frankfurt am Main 19
Buffalo 18
Jinan 18
Falls Church 17
Seoul 17
Guangzhou 16
Tianjin 16
Amman 15
Brussels 15
Salt Lake City 15
Mülheim 14
Nanchang 14
Dallas 13
Falkenstein 12
Milan 12
Munich 12
Sofia 12
Zhengzhou 12
Redmond 11
Redondo Beach 11
Tacoma 11
Bremen 10
Hebei 10
Prague 10
San Francisco 10
The Dalles 10
Chennai 9
Dearborn 9
Düsseldorf 9
Orem 9
San Diego 9
São Paulo 9
Toronto 9
Brookhaven 8
Dortmund 8
Kansas City 8
London 8
Mountain View 8
Rishon LeTsiyyon 8
Bengaluru 7
Changsha 7
Hagen 7
Haikou 7
Mahé 7
Phoenix 7
Vienna 7
Baghdad 6
Bangkok 6
Bern 6
Biên Hòa 6
Bắc Ninh 6
Can Tho 6
Chicago 6
Council Bluffs 6
Jiaxing 6
Ningbo 6
Olalla 6
Totale 4.229
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Nome #
CYP21A2 AND CYP11B1: FIRST REPORT OF A DIGENIC INHERITANCE IN CAH. 511
A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of Congenital Adrenal Hyperplasia 258
Impact of molecular genetics on congenital adrenal hyperplasia management. 235
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
Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone 226
Mutational spectrum of SHOX gene in 25 Italian pediatric patients with Lèri-Weill dyschondrosteosis (LWD). 219
46, XX DSD due to androgen excess in monogenic disorders of steroidogenesis: Genetic, biochemical, and clinical features 207
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype 206
A novel frame-shift mutation in the SHOX gene in a subject with Léri-Weill dyschondrosteosis 200
A molecular analysis of candidate genes for hypospadias in Italian subjects 190
Determination of BMP15 gene dosage in a woman with TS and spontaneous menarche. 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 180
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations 179
Two Novel Missense mutations in the GnRHR Gene in Two Siblings with Isolated Hypogonadotropic Hypogonadism 178
Autosomal dominant pseudohypoaldosteronism type 1 (PHA1) in the Italian population: functional characterization of two novel hMR (NR3C2) gene mutations and frequency and function of three gene SNPs 177
Identification of rare alleles in an Italian population of 284 patients with 21- hydroxylase deficiency by complete sequencing of the CYP21 gene 176
Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia 175
Copy number determination of hypothyroidism genes by MLPA analysis in patients with hypothyroidism and thyroid hypoplasia 173
Improving the diagnosis of 11β-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patient 164
Autosomal dominant pseudohypoaldosteronism type 1 (PHA1) in the Italian population: functional characterization of two novel hMR (NR3C2) gene mutations and frequency and function of three NR3C2 gene SNPs 163
Tre nuove variazioni di sequenza nel gene dell’AMH in un paziente con sindrome da persistenza dei dotti di Muller. 159
CYP11B1 gene analysis in 3 Italian patients: identification of a new mutation. 159
A molecular analysis of candidate genes for hypospadias in Italian subjects 156
A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia. 156
Three new mutations in androgen receptor gene identified in patients with 46,XY SDS: Complications for genetic counselling 150
Transient 21-OHase deficiency in newborns suspected for CAH: May hydrocortisone treatment be beneficial or is simply inappropriate? 147
Molecular and phenotypical characterization of 10 families with 11ß-hydroxylase deficiency 147
Genotypic and phenotypic variability in 54 subjects with congenital hypopituitarism 145
Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1 144
Genotyping Patients with Differences of Sex Development: 25 Years of Investigation of an Italian Population of 308 Cases (194 46,XY and 114 46,XX) 141
A NOVEL FRAME-SHIFT MUTATION IN THE SHOX GENE IN A SUBJECT WITH LERI-WEIL DYSCHONDROSTEOSIS. 138
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. 132
Three new sequence variations of the AMH gene in an Italian patient with persistent Mullerian duct syndrome. 131
Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations 128
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 127
Non classical CAH: molecular evaluation of 287 subjects from northern and southern Italy with comparison between genetical and hormonal results. 112
The molecular biology of congenital adrenal hyperplasia in the Mediterranean area 91
The molecular biology of congenital adrenal hyperplasia in Mediterranean Area 86
Totale 6.994
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Categoria #
all - tutte 16.366
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 16.366
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021157 0 0 0 0 0 0 0 0 0 0 24 133
2021/2022826 117 36 44 77 74 39 19 47 31 37 162 143
2022/2023962 104 132 53 114 103 71 22 48 184 28 72 31
2023/2024307 7 47 40 22 23 40 17 28 26 24 23 10
2024/2025975 56 145 70 97 128 62 50 36 7 88 37 199
2025/20262.265 252 190 164 162 233 119 287 133 490 195 40 0
Totale 6.994