CRIS Current Research Information System

MENABO', SOARA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 1.864
EU - Europa 1.440
AS - Asia 780
AF - Africa 142
OC - Oceania 11
SA - Sud America 8
Totale 4.245
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 1.842
GB - Regno Unito 416
CN - Cina 246
DE - Germania 236
SG - Singapore 220
SE - Svezia 197
IT - Italia 184
VN - Vietnam 164
UA - Ucraina 106
IN - India 84
RU - Federazione Russa 65
IE - Irlanda 63
FR - Francia 55
NG - Nigeria 40
CI - Costa d'Avorio 36
ZA - Sudafrica 34
EE - Estonia 24
TG - Togo 22
CA - Canada 20
CH - Svizzera 16
BE - Belgio 15
IL - Israele 14
JO - Giordania 14
FI - Finlandia 13
BG - Bulgaria 12
AU - Australia 11
CZ - Repubblica Ceca 10
JP - Giappone 10
SC - Seychelles 8
GR - Grecia 5
TR - Turchia 5
AE - Emirati Arabi Uniti 4
ES - Italia 4
IR - Iran 4
LT - Lituania 4
PK - Pakistan 4
RO - Romania 4
TH - Thailandia 4
AR - Argentina 3
HK - Hong Kong 3
PL - Polonia 3
CO - Colombia 2
RS - Serbia 2
SA - Arabia Saudita 2
AL - Albania 1
BA - Bosnia-Erzegovina 1
BR - Brasile 1
CL - Cile 1
CR - Costa Rica 1
DK - Danimarca 1
ET - Etiopia 1
HN - Honduras 1
ID - Indonesia 1
LB - Libano 1
LU - Lussemburgo 1
MA - Marocco 1
NO - Norvegia 1
PE - Perù 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 4.245
Salva come PNG Salva come JPEG
Città #
Southend 374
Chandler 241
Singapore 197
Ashburn 117
Fairfield 107
Princeton 93
Santa Clara 90
Ann Arbor 88
Houston 81
Jacksonville 78
Wilmington 67
Dublin 63
Dong Ket 55
Woodbridge 55
Boardman 45
Cambridge 42
Abeokuta 40
Westminster 39
Seattle 38
Abidjan 36
Nanjing 33
Redwood City 31
Padova 30
Berlin 29
Bologna 27
Medford 27
Turin 27
Shenyang 23
Lomé 22
Saint Petersburg 21
Falls Church 17
Beijing 16
Jinan 16
Amman 14
Brussels 14
Mülheim 14
Nanchang 14
Tianjin 14
Helsinki 13
New York 12
Sofia 12
Redmond 11
Tacoma 11
Zhengzhou 11
Bremen 10
Hebei 10
Prague 10
Dearborn 9
Guangzhou 9
San Diego 9
Brookhaven 8
Chennai 8
Dortmund 8
Kansas City 8
Los Angeles 8
Mountain View 8
Rishon LeTsiyyon 8
Hagen 7
Haikou 7
Mahé 7
Milan 7
Ningbo 7
Bern 6
Frankfurt am Main 6
Jiaxing 6
Olalla 6
Burlington 5
Changsha 5
Chicago 5
Des Moines 5
Fuzhou 5
Leawood 5
Melle 5
Norwalk 5
Ramat Gan 5
Salt Lake City 5
Taizhou 5
Tokyo 5
Boydton 4
Dubai 4
Everett 4
Grand Rapids 4
Hangzhou 4
Imola 4
Lausanne 4
Palo Alto 4
Phoenix 4
Ravenna 4
Toronto 4
Verona 4
Véry 4
Washington 4
Bühl 3
Cagliari 3
Chengdu 3
Costa Mesa 3
Elgin 3
Hanover 3
Hayward 3
Istanbul 3
Totale 2.717
Salva come PNG Salva come JPEG
Nome #
CYP21A2 AND CYP11B1: FIRST REPORT OF A DIGENIC INHERITANCE IN CAH. 405
A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of Congenital Adrenal Hyperplasia 150
A novel frame-shift mutation in the SHOX gene in a subject with Léri-Weill dyschondrosteosis 150
Mutational spectrum of SHOX gene in 25 Italian pediatric patients with Lèri-Weill dyschondrosteosis (LWD). 135
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. 132
A molecular analysis of candidate genes for hypospadias in Italian subjects 132
A molecular analysis of candidate genes for hypospadias in Italian subjects 131
46, XX DSD due to androgen excess in monogenic disorders of steroidogenesis: Genetic, biochemical, and clinical features 124
A genetic epidemiology study of congenital adrenal hyperplasia in Italy 123
Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism 118
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations 117
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 116
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype 116
Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone 114
Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia 112
Two Novel Missense mutations in the GnRHR Gene in Two Siblings with Isolated Hypogonadotropic Hypogonadism 110
Copy number determination of hypothyroidism genes by MLPA analysis in patients with hypothyroidism and thyroid hypoplasia 110
Impact of molecular genetics on congenital adrenal hyperplasia management. 108
Identification of rare alleles in an Italian population of 284 patients with 21- hydroxylase deficiency by complete sequencing of the CYP21 gene 105
Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1 100
Determination of BMP15 gene dosage in a woman with TS and spontaneous menarche. 99
CYP11B1 gene analysis in 3 Italian patients: identification of a new mutation. 97
Improving the diagnosis of 11β-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patient 96
Transient 21-OHase deficiency in newborns suspected for CAH: May hydrocortisone treatment be beneficial or is simply inappropriate? 93
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 92
Tre nuove variazioni di sequenza nel gene dell’AMH in un paziente con sindrome da persistenza dei dotti di Muller. 90
Genotypic and phenotypic variability in 54 subjects with congenital hypopituitarism 88
Three new mutations in androgen receptor gene identified in patients with 46,XY SDS: Complications for genetic counselling 88
Molecular and phenotypical characterization of 10 families with 11ß-hydroxylase deficiency 87
A NOVEL FRAME-SHIFT MUTATION IN THE SHOX GENE IN A SUBJECT WITH LERI-WEIL DYSCHONDROSTEOSIS. 87
A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia. 83
Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations 80
Three new sequence variations of the AMH gene in an Italian patient with persistent Mullerian duct syndrome. 78
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) 78
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. 75
Three Novel AMHGene Mutations in a Patient with Persistent Mullerian Duct Syndrome and Normal AMH Serum Dosage. 71
Non classical CAH: molecular evaluation of 287 subjects from northern and southern Italy with comparison between genetical and hormonal results. 66
TSHR gene analysis in paediatric subjects with NASH (non autoimmune subclinical hypothyroidism) not selected by neonatal screening 65
The molecular biology of congenital adrenal hyperplasia in the Mediterranean area 53
null 37
The molecular biology of congenital adrenal hyperplasia in Mediterranean Area 22
Totale 4.333
Salva come PNG Salva come JPEG
Categoria #
all - tutte 10.141
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 10.141
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020445 0 0 0 0 0 54 68 95 84 72 22 50
2020/2021517 109 31 18 35 18 39 13 33 32 32 24 133
2021/2022826 117 36 44 77 74 39 19 47 31 37 162 143
2022/2023972 106 132 53 116 104 71 22 48 186 29 73 32
2023/2024311 7 48 41 23 23 40 18 28 26 24 23 10
2024/2025565 56 147 72 97 131 62 0 0 0 0 0 0
Totale 4.333