CRIS Current Research Information System

MENABO', SOARA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 1.639
EU - Europa 1.375
AS - Asia 477
AF - Africa 139
OC - Oceania 11
SA - Sud America 6
Totale 3.647
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 1.622
GB - Regno Unito 413
DE - Germania 231
SE - Svezia 197
CN - Cina 176
VN - Vietnam 164
IT - Italia 160
UA - Ucraina 106
IN - India 76
IE - Irlanda 63
RU - Federazione Russa 61
FR - Francia 55
NG - Nigeria 40
ZA - Sudafrica 34
CI - Costa d'Avorio 33
EE - Estonia 24
TG - Togo 22
BE - Belgio 15
CA - Canada 15
IL - Israele 14
JO - Giordania 14
BG - Bulgaria 12
CH - Svizzera 12
AU - Australia 11
FI - Finlandia 8
SC - Seychelles 8
GR - Grecia 5
JP - Giappone 5
TR - Turchia 5
AE - Emirati Arabi Uniti 4
IR - Iran 4
PK - Pakistan 4
TH - Thailandia 4
PL - Polonia 3
SG - Singapore 3
AR - Argentina 2
CO - Colombia 2
ES - Italia 2
HK - Hong Kong 2
RS - Serbia 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
LB - Libano 1
LU - Lussemburgo 1
MA - Marocco 1
NO - Norvegia 1
RO - Romania 1
SA - Arabia Saudita 1
Totale 3.647
Salva come PNG Salva come JPEG
Città #
Southend 374
Chandler 241
Ashburn 107
Fairfield 107
Princeton 93
Ann Arbor 88
Houston 80
Jacksonville 78
Wilmington 67
Dublin 63
Dong Ket 55
Woodbridge 55
Cambridge 42
Abeokuta 40
Westminster 39
Seattle 37
Abidjan 33
Redwood City 31
Nanjing 30
Padova 30
Berlin 29
Medford 27
Turin 27
Bologna 26
Shenyang 23
Lomé 22
Saint Petersburg 21
Falls Church 17
Jinan 16
Amman 14
Beijing 14
Brussels 14
Mülheim 14
Nanchang 14
Tianjin 13
New York 12
Sofia 12
Redmond 11
Tacoma 11
Bremen 10
Hebei 10
Dearborn 9
San Diego 9
Brookhaven 8
Dortmund 8
Helsinki 8
Los Angeles 8
Mountain View 8
Rishon LeTsiyyon 8
Zhengzhou 8
Hagen 7
Haikou 7
Mahé 7
Milan 7
Bern 6
Jiaxing 6
Olalla 6
Boardman 5
Burlington 5
Changsha 5
Des Moines 5
Leawood 5
Melle 5
Norwalk 5
Ramat Gan 5
Salt Lake City 5
Boydton 4
Chicago 4
Dubai 4
Everett 4
Fuzhou 4
Grand Rapids 4
Hangzhou 4
Imola 4
Lausanne 4
Palo Alto 4
Tokyo 4
Verona 4
Véry 4
Washington 4
Bühl 3
Costa Mesa 3
Hanover 3
Hayward 3
Istanbul 3
Lüdenscheid 3
Montebello 3
Prospect 3
Rochester 3
San Venanzo 3
Sydney 3
Taizhou 3
Trento 3
Waterloo 3
Wisconsin Rapids 3
Baltimore 2
Belgrade 2
Boston 2
Brampton 2
Butler 2
Totale 2.323
Salva come PNG Salva come JPEG
Nome #
CYP21A2 AND CYP11B1: FIRST REPORT OF A DIGENIC INHERITANCE IN CAH. 367
A novel frame-shift mutation in the SHOX gene in a subject with Léri-Weill dyschondrosteosis 138
A molecular analysis of candidate genes for hypospadias in Italian subjects 123
Mutational spectrum of SHOX gene in 25 Italian pediatric patients with Lèri-Weill dyschondrosteosis (LWD). 122
A molecular analysis of candidate genes for hypospadias in Italian subjects 121
A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of Congenital Adrenal Hyperplasia 120
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. 113
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations 108
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype 106
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 105
A genetic epidemiology study of congenital adrenal hyperplasia in Italy 105
Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism 103
Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia 102
Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone 101
46, XX DSD due to androgen excess in monogenic disorders of steroidogenesis: Genetic, biochemical, and clinical features 97
Impact of molecular genetics on congenital adrenal hyperplasia management. 96
Two Novel Missense mutations in the GnRHR Gene in Two Siblings with Isolated Hypogonadotropic Hypogonadism 95
CYP11B1 gene analysis in 3 Italian patients: identification of a new mutation. 88
Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1 86
Identification of rare alleles in an Italian population of 284 patients with 21- hydroxylase deficiency by complete sequencing of the CYP21 gene 84
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 83
Improving the diagnosis of 11β-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patient 83
Determination of BMP15 gene dosage in a woman with TS and spontaneous menarche. 82
Tre nuove variazioni di sequenza nel gene dell’AMH in un paziente con sindrome da persistenza dei dotti di Muller. 81
Transient 21-OHase deficiency in newborns suspected for CAH: May hydrocortisone treatment be beneficial or is simply inappropriate? 80
Copy number determination of hypothyroidism genes by MLPA analysis in patients with hypothyroidism and thyroid hypoplasia 80
A NOVEL FRAME-SHIFT MUTATION IN THE SHOX GENE IN A SUBJECT WITH LERI-WEIL DYSCHONDROSTEOSIS. 75
Three new mutations in androgen receptor gene identified in patients with 46,XY SDS: Complications for genetic counselling 75
Genotypic and phenotypic variability in 54 subjects with congenital hypopituitarism 73
A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia. 70
Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations 67
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. 64
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) 64
Three new sequence variations of the AMH gene in an Italian patient with persistent Mullerian duct syndrome. 62
Molecular and phenotypical characterization of 10 families with 11ß-hydroxylase deficiency 59
Three Novel AMHGene Mutations in a Patient with Persistent Mullerian Duct Syndrome and Normal AMH Serum Dosage. 58
TSHR gene analysis in paediatric subjects with NASH (non autoimmune subclinical hypothyroidism) not selected by neonatal screening 57
Non classical CAH: molecular evaluation of 287 subjects from northern and southern Italy with comparison between genetical and hormonal results. 54
null 37
The molecular biology of congenital adrenal hyperplasia in the Mediterranean area 37
The molecular biology of congenital adrenal hyperplasia in Mediterranean Area 14
Totale 3.735
Salva come PNG Salva come JPEG
Categoria #
all - tutte 7.867
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 7.867
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201967 0 0 0 0 0 0 0 0 0 0 30 37
2019/2020783 178 33 24 49 54 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
2023/2024278 7 48 41 23 23 40 18 28 26 24 0 0
Totale 3.735