CNR Institutional Research Information System

CRISPONI, LAURA
 Distribuzione geografica
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Continente #
AS - Asia 2.427
NA - Nord America 2.059
EU - Europa 1.034
SA - Sud America 485
Continente sconosciuto - Info sul continente non disponibili 108
AF - Africa 42
OC - Oceania 5
Totale 6.160
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Nazione #
US - Stati Uniti d'America 1.933
SG - Singapore 999
CN - Cina 542
IT - Italia 440
BR - Brasile 382
VN - Vietnam 247
HK - Hong Kong 225
NL - Olanda 180
FR - Francia 137
BD - Bangladesh 119
KR - Corea 101
CA - Canada 56
GB - Regno Unito 55
IN - India 49
DE - Germania 45
FI - Finlandia 39
AR - Argentina 31
CO - Colombia 25
EC - Ecuador 24
JP - Giappone 24
MX - Messico 23
IE - Irlanda 21
IL - Israele 16
UA - Ucraina 16
ZA - Sudafrica 14
ES - Italia 13
ID - Indonesia 13
PL - Polonia 13
JM - Giamaica 10
SE - Svezia 10
PK - Pakistan 9
CR - Costa Rica 8
CZ - Repubblica Ceca 8
EG - Egitto 8
IQ - Iraq 8
LT - Lituania 8
TR - Turchia 8
AT - Austria 7
CL - Cile 7
MY - Malesia 7
SA - Arabia Saudita 7
UZ - Uzbekistan 7
AE - Emirati Arabi Uniti 6
CY - Cipro 6
PT - Portogallo 6
RU - Federazione Russa 6
HN - Honduras 5
NI - Nicaragua 5
PH - Filippine 5
TN - Tunisia 5
AZ - Azerbaigian 4
BE - Belgio 4
HR - Croazia 4
KZ - Kazakistan 4
MA - Marocco 4
NP - Nepal 4
PE - Perù 4
UY - Uruguay 4
AU - Australia 3
BG - Bulgaria 3
GT - Guatemala 3
JO - Giordania 3
KE - Kenya 3
PA - Panama 3
PR - Porto Rico 3
PY - Paraguay 3
RO - Romania 3
TH - Thailandia 3
VE - Venezuela 3
AL - Albania 2
AM - Armenia 2
BS - Bahamas 2
DZ - Algeria 2
HU - Ungheria 2
KG - Kirghizistan 2
LB - Libano 2
LV - Lettonia 2
NO - Norvegia 2
NZ - Nuova Zelanda 2
OM - Oman 2
RS - Serbia 2
SN - Senegal 2
SV - El Salvador 2
TT - Trinidad e Tobago 2
AG - Antigua e Barbuda 1
BA - Bosnia-Erzegovina 1
BO - Bolivia 1
BZ - Belize 1
CH - Svizzera 1
GD - Grenada 1
GR - Grecia 1
GY - Guiana 1
IR - Iran 1
KW - Kuwait 1
LC - Santa Lucia 1
LK - Sri Lanka 1
LU - Lussemburgo 1
MU - Mauritius 1
MW - Malawi 1
RE - Reunion 1
Totale 6.049
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Città #
Singapore 537
Santa Clara 296
San Jose 269
Hong Kong 222
Hefei 189
Ashburn 156
Assemini 115
Beijing 115
Los Angeles 109
Lauterbourg 104
Seoul 101
Ho Chi Minh City 85
Hanoi 63
New York 56
Dallas 48
São Paulo 37
Helsinki 34
Orem 32
Buffalo 28
Cagliari 27
Chicago 26
Rome 25
Frankfurt am Main 21
Dublin 18
Milan 18
Rio de Janeiro 18
Brooklyn 17
Atlanta 16
Amsterdam 15
Montreal 14
Naples 14
Phoenix 14
Memphis 13
Tokyo 13
Da Nang 12
Houston 12
Toronto 12
Bengaluru 11
London 11
Minamishinagawa 11
Council Bluffs 10
Paris 10
Portland 10
San Francisco 10
Stockholm 10
Boston 9
Denver 9
Florence 9
Guangzhou 9
Haiphong 9
Johannesburg 9
Belo Horizonte 8
Bologna 8
Brasília 8
Chennai 8
Düsseldorf 8
Manchester 8
Prague 8
Curitiba 7
Guayaquil 7
Las Vegas 7
Newark 7
Quito 7
The Bronx 7
Biên Hòa 6
Boardman 6
Charlotte 6
Dhaka 6
Falkenstein 6
Hyderabad 6
Kingston 6
Miami 6
Philadelphia 6
Portsmouth 6
Tashkent 6
Warsaw 6
Baghdad 5
Buenos Aires 5
Cairo 5
Dayton 5
Detroit 5
Figino 5
Hải Dương 5
Karachi 5
Kyiv 5
Lappeenranta 5
Louisville 5
Mexico City 5
Minneapolis 5
Morgan Hill 5
Mumbai 5
Nuremberg 5
Piscataway 5
Porto Alegre 5
Richmond 5
San José 5
Seattle 5
São Gonçalo 5
Thái Bình 5
Turin 5
Totale 3.328
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Nome #
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1 137
Identification of ten loci associated with height highlights new biological pathways in human growth 112
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. 106
Common variants in the GDF5-BFZB region are associated with variation in human height. 97
Genome-wide association study of susceptibility loci for breast cancer in Sardinian population 94
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts 94
Genetic studies of body mass index yield new insights for obesity biology. 93
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles 93
New genetic loci link adipose and insulin biology to body fat distribution 92
Variants in MNTR1B influence fasting glucose levels 90
FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice 84
Role of the Blepharophimosis/Ptosis/Epicanthus Inversus syndrome (BPES) gene FOXL2 in ovarian and eye development. 78
Phosphodiesterase 8B Gene Variants Are Associated with Serum TSH Levels and Thyroid Function. 78
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. 78
Association of adiposity genetic variants with menarche timing in 92,105 women of European descent. 77
Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome 76
FOXL2: Forkhead transcription factor and Blepharophimosis/Ptosis/Epicanthus inversus syndrome (BPES) 76
Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development. 75
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS plus phenotypic spectrum: a case report 74
Understanding the genetic complexity of puberty timing across the allele frequency spectrum 71
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk 71
Novel action of FOXL2 as mediator of Col1a2 gene autoregulation 70
A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. 70
A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population 69
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa 69
Genome-wide association scan for bilirubin levels in a Sardinian population 68
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. 68
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. 67
Genome-wide association scan for serum bilirubin levels in a Sardinian cohort. 66
The Lin28/let-7 axis regulates glucose metabolism 66
The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity. 65
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia 64
Common variants at ten loci modulate the QT interval duration in the QTSCD Study 63
Genetic insights into biological mechanisms governing human ovarian ageing 63
Sindrome di Crisponi e Sindrome della sudorazione indotta dal freddo tipo I: due sindromi un entità genetica 63
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. 63
Erratum: Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa (The American Journal of Human Genetics (2016) 99(1) (236-245) (S0002929716301616) (10.1016/j.ajhg.2016.05.026)) 62
Sindrome di Crisponi e Sindrome della sudorazione indotta dal freddo tipo I: due sindromi un entità genetica. 62
Correction to: Understanding the genetic complexity of puberty timing across the allele frequency spectrum (Nature Genetics, (2024), 56, 7, (1397-1411), 10.1038/s41588-024-01798-4) 61
Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome 60
Editorial: Female Infertility: Genetics of Reproductive Ageing, Menopause and Primary Ovarian Insufficiency 59
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals 58
Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty 58
Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP 58
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders 58
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies 57
BCL11A is associated with persistent HbF and ameliorates the ²-thalassemia phenotype. 57
Prevalence of BRCA1 and BRCA2 mutations in Sardinia. 56
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche 56
Studio delle basi genetiche delle tireopatie autoimmuni nella popolazione sarda 55
CRLF1 and CLCF1 in Development, Health and Disease. 54
Reproductive aging-associated common genetic variants and the risk of breast cancer. 54
Overgrowth of a mouse model of the Simpson - Golabi - Behmel syndrome is independent of IGF signaling 54
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses 53
Genome-wide search for asthma susceptibility loci in Sardinian population 52
IRAK-M Is Involved in the Pathogenesis of Early-Onset Persistent Asthma 52
Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores 51
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk 51
Crisponi Syndrome is Caused by Mutations in the CRLF1 Gene and is Allelic to Cold-Induced Sweating Syndrome 1 51
SUMOylation of the Forkhead transcription factor FOXL2 promotes its stabilization/activation through transient recruitment to PML bodies. 49
Microarray and functional analyses of primordial follicles formation and the etiology of premature ovarian failure. 49
Crisponi Syndrome and Cold-induced Sweating Type 1: two syndromes, but one genetic entity 49
Prevalence of BRCA1 and BRCA2 mutations in Sardinia 49
Crisponi Syndrome and Cold-Induced Sweating Type 1: Two Syndromes - One Genetic Entity 48
Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line 48
FOXL2 inactivation by a translocation 171 kb away: Analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences 48
Epileptic phenotypes related to the UNC79-UNC80-NALCN protein complex. 47
Expanding the mutational spectrum of CRLF1 in Crisponi Syndrome 46
GWAS in Sardinians reveals novel loci for levels of inflammatory biomarkers. 45
Hodgkin Lymphoma after Disseminated Mycobacterium genavense Infection, Germany 45
OTULIN-related conditions: Report of a new case and review of the literature using GenIA 45
Crisponi syndrome: A new case with additional features and new mutation in CRLF1. 45
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. 44
First results of a genome-wide association using jointly 10k and 500k Affymetrix chips in a Sardinian cohort 43
Crisponi/Cold Induced Sweating Syndrome Type 1 With a Private Cytokine Receptor Like Factor 1 (CRLF1) Mutation in an Indian Family 43
Progenia: primi risultati di un genome-wide scan con i gene-chip arrays Affymetrix 10K e 500K nella popolazione sarda 43
Glypican 3 and glypican 4 are juxtaposed in Xq26.1 43
Mutation and functional analysis of the IRAK-M gene in Sardinian asthmatic patients 43
Corrigendum: Rare coding variants and X-linked loci associated with age at menarche 43
Genome-wide association using jointly 10k and 500k Affymetrix chip in a Sardinia cohort 42
Neuroticism, depressive symptoms, and serum BDNF. 41
Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome 41
A new case series of Crisponi syndrome in a Turkish family and review of the literature 41
Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual 41
Foxl2 is required for commitment to ovary differentiation. 41
Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome 41
Common variants in the GDF5-UQCC region are associated with variation in human height 40
Unravelling the genetic causes of syndromic Intellectual Disability in the era of exome sequencing. 39
GenIA, the Genetic Immunology Advisor database for inborn errors of immunity 38
Study of the functional mechanisms underlying the association of CBLB with MS 38
Fine mapping of balanced translocation breakpoints in 4 patients with non syndromic mental retardation. 35
The GLUT9 Gene is Associated with Serum Uric Acid Levels in Sardinia and Chianti Cohorts. 34
Genome-wide association scan for serum TSH levels in 2375 Sardinian. 33
Genetics of serum BDNF: Meta-analysis of the Val66Met and genome-wide association study. 33
Jagged-1 mutation analysis in Italian Alagille syndrome patients 33
Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area 33
Distribution of BRCA1 and BRCA2 mutations in Sardinia. 30
Interactions of dietary whole-grain intake with fasting glucose- and insulin-related genetic loci in individuals of European descent: a meta-analysis of 14 cohort studies. 30
CSMD3 a candidate gene for autism found in two patients with autistic disorder and balanced translocations 27
Rare coding variants and X-linked loci associated with age at menarche 27
Totale 5.802
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Categoria #
all - tutte 19.426
article - articoli 15.358
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 34.784
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202446 0 0 0 0 0 0 0 0 2 7 26 11
2024/20252.144 8 7 133 57 402 198 108 130 90 213 446 352
2025/20263.238 167 292 288 397 638 123 386 126 146 284 194 197
2026/2027732 247 173 312 0 0 0 0 0 0 0 0 0
Totale 6.160