CRIS Current Research Information System

MENABO', SOARA
 Distribuzione geografica
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Continente #
NA - Nord America 1.735
EU - Europa 1.409
AS - Asia 684
AF - Africa 142
OC - Oceania 11
SA - Sud America 7
Totale 3.988
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Nazione #
US - Stati Uniti d'America 1.716
GB - Regno Unito 413
DE - Germania 231
CN - Cina 228
SE - Svezia 197
IT - Italia 174
VN - Vietnam 164
SG - Singapore 150
UA - Ucraina 106
IN - India 84
IE - Irlanda 63
RU - Federazione Russa 61
FR - Francia 55
NG - Nigeria 40
CI - Costa d'Avorio 36
ZA - Sudafrica 34
EE - Estonia 24
TG - Togo 22
CA - Canada 17
CH - Svizzera 16
BE - Belgio 15
IL - Israele 14
JO - Giordania 14
BG - Bulgaria 12
AU - Australia 11
CZ - Repubblica Ceca 10
FI - Finlandia 8
SC - Seychelles 8
GR - Grecia 5
JP - Giappone 5
TR - Turchia 5
AE - Emirati Arabi Uniti 4
ES - Italia 4
IR - Iran 4
PK - Pakistan 4
RO - Romania 4
TH - Thailandia 4
PL - Polonia 3
AR - Argentina 2
CO - Colombia 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
PE - Perù 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 3.988
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Città #
Southend 374
Chandler 241
Singapore 131
Ashburn 116
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 36
Nanjing 33
Redwood City 31
Padova 30
Berlin 29
Bologna 27
Medford 27
Turin 27
Shenyang 23
Lomé 22
Santa Clara 22
Saint Petersburg 21
Falls Church 17
Beijing 16
Jinan 16
Amman 14
Brussels 14
Mülheim 14
Nanchang 14
Tianjin 14
New York 12
Sofia 12
Redmond 11
Tacoma 11
Bremen 10
Hebei 10
Prague 10
Zhengzhou 10
Dearborn 9
Guangzhou 9
San Diego 9
Brookhaven 8
Chennai 8
Dortmund 8
Helsinki 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
Jiaxing 6
Olalla 6
Boardman 5
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
Boydton 4
Dubai 4
Everett 4
Grand Rapids 4
Hangzhou 4
Imola 4
Lausanne 4
Palo Alto 4
Ravenna 4
Tokyo 4
Verona 4
Véry 4
Washington 4
Bühl 3
Cagliari 3
Chengdu 3
Costa Mesa 3
Elgin 3
Hanover 3
Hayward 3
Istanbul 3
Lüdenscheid 3
Melzo 3
Montebello 3
Totale 2.528
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Nome #
CYP21A2 AND CYP11B1: FIRST REPORT OF A DIGENIC INHERITANCE IN CAH. 393
A novel frame-shift mutation in the SHOX gene in a subject with Léri-Weill dyschondrosteosis 144
A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of Congenital Adrenal Hyperplasia 141
Mutational spectrum of SHOX gene in 25 Italian pediatric patients with Lèri-Weill dyschondrosteosis (LWD). 131
A molecular analysis of candidate genes for hypospadias in Italian subjects 126
A molecular analysis of candidate genes for hypospadias in Italian subjects 125
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. 121
A genetic epidemiology study of congenital adrenal hyperplasia in Italy 118
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations 113
Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism 111
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype 110
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 109
Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia 109
46, XX DSD due to androgen excess in monogenic disorders of steroidogenesis: Genetic, biochemical, and clinical features 109
Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone 109
Two Novel Missense mutations in the GnRHR Gene in Two Siblings with Isolated Hypogonadotropic Hypogonadism 103
Impact of molecular genetics on congenital adrenal hyperplasia management. 103
Copy number determination of hypothyroidism genes by MLPA analysis in patients with hypothyroidism and thyroid hypoplasia 102
Identification of rare alleles in an Italian population of 284 patients with 21- hydroxylase deficiency by complete sequencing of the CYP21 gene 98
Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1 94
Determination of BMP15 gene dosage in a woman with TS and spontaneous menarche. 94
Improving the diagnosis of 11β-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patient 92
CYP11B1 gene analysis in 3 Italian patients: identification of a new mutation. 91
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 88
Transient 21-OHase deficiency in newborns suspected for CAH: May hydrocortisone treatment be beneficial or is simply inappropriate? 86
Tre nuove variazioni di sequenza nel gene dell’AMH in un paziente con sindrome da persistenza dei dotti di Muller. 85
Three new mutations in androgen receptor gene identified in patients with 46,XY SDS: Complications for genetic counselling 83
Genotypic and phenotypic variability in 54 subjects with congenital hypopituitarism 82
A NOVEL FRAME-SHIFT MUTATION IN THE SHOX GENE IN A SUBJECT WITH LERI-WEIL DYSCHONDROSTEOSIS. 81
Molecular and phenotypical characterization of 10 families with 11ß-hydroxylase deficiency 79
A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia. 77
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) 73
Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations 71
Three new sequence variations of the AMH gene in an Italian patient with persistent Mullerian duct syndrome. 70
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. 67
Three Novel AMHGene Mutations in a Patient with Persistent Mullerian Duct Syndrome and Normal AMH Serum Dosage. 65
TSHR gene analysis in paediatric subjects with NASH (non autoimmune subclinical hypothyroidism) not selected by neonatal screening 62
Non classical CAH: molecular evaluation of 287 subjects from northern and southern Italy with comparison between genetical and hormonal results. 59
The molecular biology of congenital adrenal hyperplasia in the Mediterranean area 47
null 37
The molecular biology of congenital adrenal hyperplasia in Mediterranean Area 18
Totale 4.076
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Categoria #
all - tutte 9.348
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 9.348
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020548 0 0 0 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
2023/2024311 7 48 41 23 23 40 18 28 26 24 23 10
2024/2025308 56 147 72 33 0 0 0 0 0 0 0 0
Totale 4.076