CRIS Current Research Information System

MENABO', SOARA
 Distribuzione geografica
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Continente #
NA - Nord America 2.131
EU - Europa 1.664
AS - Asia 1.651
AF - Africa 158
SA - Sud America 128
OC - Oceania 11
Totale 5.743
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Nazione #
US - Stati Uniti d'America 2.089
SG - Singapore 509
CN - Cina 461
GB - Regno Unito 428
VN - Vietnam 327
DE - Germania 278
IT - Italia 216
SE - Svezia 198
HK - Hong Kong 140
UA - Ucraina 107
RU - Federazione Russa 96
IN - India 94
BR - Brasile 86
FR - Francia 76
IE - Irlanda 65
NL - Olanda 51
CI - Costa d'Avorio 40
NG - Nigeria 39
ZA - Sudafrica 36
JP - Giappone 33
CA - Canada 31
EE - Estonia 24
FI - Finlandia 24
TG - Togo 22
AR - Argentina 20
CH - Svizzera 16
KR - Corea 16
BE - Belgio 15
IL - Israele 14
JO - Giordania 14
BG - Bulgaria 12
AU - Australia 11
SC - Seychelles 11
TR - Turchia 11
CZ - Repubblica Ceca 10
EC - Ecuador 8
AT - Austria 7
ES - Italia 7
GR - Grecia 6
LT - Lituania 6
PL - Polonia 6
CO - Colombia 5
IR - Iran 5
MX - Messico 5
AE - Emirati Arabi Uniti 4
CL - Cile 4
MA - Marocco 4
PK - Pakistan 4
RO - Romania 4
TH - Thailandia 4
BD - Bangladesh 3
IQ - Iraq 3
NO - Norvegia 3
PE - Perù 3
CR - Costa Rica 2
EG - Egitto 2
ET - Etiopia 2
HN - Honduras 2
ID - Indonesia 2
PT - Portogallo 2
RS - Serbia 2
SA - Arabia Saudita 2
AL - Albania 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
GE - Georgia 1
KH - Cambogia 1
LB - Libano 1
LU - Lussemburgo 1
MW - Malawi 1
MY - Malesia 1
PY - Paraguay 1
SK - Slovacchia (Repubblica Slovacca) 1
TN - Tunisia 1
UY - Uruguay 1
UZ - Uzbekistan 1
Totale 5.743
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Città #
Southend 374
Singapore 348
Chandler 241
Ashburn 232
Hong Kong 137
Fairfield 107
Princeton 91
Ann Arbor 88
Santa Clara 88
Houston 82
Jacksonville 78
Hefei 68
Wilmington 67
Dublin 65
Beijing 63
Dong Ket 55
Woodbridge 55
Ho Chi Minh City 52
Hanoi 46
Boardman 45
Cambridge 42
Abidjan 40
Abeokuta 39
Seattle 39
Westminster 39
Bologna 37
Los Angeles 35
Nanjing 33
Redwood City 31
Padova 30
Berlin 29
Turin 29
Tokyo 28
Medford 27
Shenyang 24
Lomé 22
Saint Petersburg 21
Buffalo 18
Helsinki 18
New York 18
Falls Church 17
Jinan 17
Seoul 16
Tianjin 16
Salt Lake City 15
Amman 14
Brussels 14
Frankfurt am Main 14
Mülheim 14
Nanchang 14
Falkenstein 12
Munich 12
Sofia 12
Redmond 11
Redondo Beach 11
Tacoma 11
Zhengzhou 11
Bremen 10
Hebei 10
Prague 10
Dearborn 9
Düsseldorf 9
Guangzhou 9
Haiphong 9
Milan 9
San Diego 9
Brookhaven 8
Chennai 8
Dortmund 8
Kansas City 8
Mountain View 8
Rishon LeTsiyyon 8
Bengaluru 7
Changsha 7
Da Nang 7
Hagen 7
Haikou 7
Lauterbourg 7
Mahé 7
São Paulo 7
Toronto 7
Vienna 7
Bern 6
Chicago 6
Jiaxing 6
Ningbo 6
Olalla 6
Rio de Janeiro 6
Burlington 5
Des Moines 5
Fuzhou 5
Hangzhou 5
Leawood 5
Melle 5
Norwalk 5
Phoenix 5
Quận Bình Thạnh 5
Ramat Gan 5
San Francisco 5
Taizhou 5
Totale 3.510
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Nome #
CYP21A2 AND CYP11B1: FIRST REPORT OF A DIGENIC INHERITANCE IN CAH. 469
A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of Congenital Adrenal Hyperplasia 218
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
Mutational spectrum of SHOX gene in 25 Italian pediatric patients with Lèri-Weill dyschondrosteosis (LWD). 200
A novel frame-shift mutation in the SHOX gene in a subject with Léri-Weill dyschondrosteosis 181
46, XX DSD due to androgen excess in monogenic disorders of steroidogenesis: Genetic, biochemical, and clinical features 167
A molecular analysis of candidate genes for hypospadias in Italian subjects 163
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype 161
Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone 159
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 155
A genetic epidemiology study of congenital adrenal hyperplasia in Italy 155
Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism 154
Identification of rare alleles in an Italian population of 284 patients with 21- hydroxylase deficiency by complete sequencing of the CYP21 gene 153
Two Novel Missense mutations in the GnRHR Gene in Two Siblings with Isolated Hypogonadotropic Hypogonadism 153
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations 152
A molecular analysis of candidate genes for hypospadias in Italian subjects 149
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 145
Copy number determination of hypothyroidism genes by MLPA analysis in patients with hypothyroidism and thyroid hypoplasia 144
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. 139
Impact of molecular genetics on congenital adrenal hyperplasia management. 138
Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia 138
Improving the diagnosis of 11β-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patient 136
Determination of BMP15 gene dosage in a woman with TS and spontaneous menarche. 136
Molecular and phenotypical characterization of 10 families with 11ß-hydroxylase deficiency 129
A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia. 128
Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1 126
Transient 21-OHase deficiency in newborns suspected for CAH: May hydrocortisone treatment be beneficial or is simply inappropriate? 125
Three new mutations in androgen receptor gene identified in patients with 46,XY SDS: Complications for genetic counselling 123
Genotypic and phenotypic variability in 54 subjects with congenital hypopituitarism 119
A NOVEL FRAME-SHIFT MUTATION IN THE SHOX GENE IN A SUBJECT WITH LERI-WEIL DYSCHONDROSTEOSIS. 118
Three new sequence variations of the AMH gene in an Italian patient with persistent Mullerian duct syndrome. 111
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) 108
Three Novel AMHGene Mutations in a Patient with Persistent Mullerian Duct Syndrome and Normal AMH Serum Dosage. 107
Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations 105
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. 104
TSHR gene analysis in paediatric subjects with NASH (non autoimmune subclinical hypothyroidism) not selected by neonatal screening 99
Non classical CAH: molecular evaluation of 287 subjects from northern and southern Italy with comparison between genetical and hormonal results. 94
The molecular biology of congenital adrenal hyperplasia in the Mediterranean area 68
The molecular biology of congenital adrenal hyperplasia in Mediterranean Area 59
Totale 5.831
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Categoria #
all - tutte 14.402
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 14.402
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021306 0 0 0 0 0 39 13 33 32 32 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
2025/20261.102 252 190 164 162 233 101 0 0 0 0 0 0
Totale 5.831