http://www.cnr.it/ontology/cnr/individuo/unitaDiPersonaleInterno/MATRICOLA9289
LAURA CRISPONI
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- LAURA CRISPONI (literal)
- LAURA CRISPONI (literal)
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- Autore CNR di
- Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome (Articolo in rivista) (Prodotto della ricerca)
- The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. (Articolo in rivista) (Prodotto della ricerca)
- Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. (Articolo in rivista) (Prodotto della ricerca)
- Aging of oocyte, ovary, and human reproduction. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Crisponi syndrome in an Indian patient: a rare differential diagnosis for neonatal tetanus. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Phosphodiesterase 8B Gene Variants Are Associated with Serum TSH Levels and Thyroid Function. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Overgrowth of a mouse model of the Simpson-Golabi-Behmel syndrome is independent of IGF signaling. (Articolo in rivista) (Prodotto della ricerca)
- Genes and translocations involved in POF. (Articolo in rivista) (Prodotto della ricerca)
- Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Glypican 3 and glypican 4 are juxtaposed in Xq26.1 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A genome-wide association search for type 2 diabetes genes in African Americans (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Jagged-1 mutation analysis in italian Alagille syndrome patients (Articolo in rivista) (Prodotto della ricerca)
- Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (Articolo in rivista) (Prodotto della ricerca)
- Variants in MNTR1B influence fasting glucose levels (Articolo in rivista) (Prodotto della ricerca)
- Genome-wide association using jointly 10k and 500k Affymetrix chip in a Sardinia cohort (Comunicazione a convegno) (Prodotto della ricerca)
- Prevalence of BRCA1 and BRCA2 mutations in Sardinia (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- BCL11A is associated with persistent HbF and ameliorates the ²-thalassemia phenotype. (Comunicazione a convegno) (Prodotto della ricerca)
- ROLE OF THE BLEPHAROPHIMOSIS/PTOSIS/EPICANTHUS INVERSUS SYNDROME (BPES) GENE FOXL2 IN OVARIAN AND EYE DEVELOPMENT (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- FOXL2 expression in folliculogenesis (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Role of the Blepharophimosis/Ptosis/Epicanthus Inversus syndrome (BPES) gene FOXL2 in ovarian and eye development. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Studio delle basi genetiche delle tireopatie autoimmuni nella popolazione sarda (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Genome-wide association scan for bilirubin levels in a Sardinian population (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- GWAS in Sardinians reveals novel loci for levels of inflammatory biomarkers. (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Mutation and functional analysis of the IRAK-M gene in Sardinian asthmatic patients (Abstract/Poster in convegno) (Prodotto della ricerca)
- Crisponi Syndrome is Caused by Mutations in the CRLF1 Gene and is Allelic to Cold-Induced Sweating Syndrome 1 (Comunicazione a convegno) (Prodotto della ricerca)
- Crisponi Syndrome and Cold-induced Sweating Type 1: two syndromes, but one genetic entity (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Crisponi Syndrome and Cold-Induced Sweating Type 1: Two Syndromes - One Genetic Entity (Abstract/Poster in convegno) (Prodotto della ricerca)
- First results of a genome-wide association using jointly 10k and 500k Affymetrix chips in a Sardinian cohort (Abstract/Poster in convegno) (Prodotto della ricerca)
- Varianti del gene PDE8B sono associate con la variazione dei livelli di TSH presenti nel siero e con la funzionalità tiroidea. (Abstract/Poster in convegno) (Prodotto della ricerca)
- CSMD3 a candidate gene for autism found in two patients with autistic disorder and balanced translocations (Abstract/Poster in convegno) (Prodotto della ricerca)
- Crisponi Syndrome is Caused by Mutations in the CRLF1 Gene and Shows Allelism to Cold-Induced Sweating Syndrome Type 1 (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Sindrome di Crisponi e Sindrome della sudorazione indotta dal freddo tipo I: due sindromi un entità genetica. (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Genome-wide association scan for serum bilirubin levels in a Sardinian cohort. (Abstract in rivista) (Prodotto della ricerca)
- Expanding the mutational spectrum of CRLF1 in Crisponi Syndrome (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
- Sindrome di Crisponi e Sindrome della sudorazione indotta dal freddo tipo I: due sindromi un entità genetica (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Fine mapping of balanced translocation breakpoints in 4 patients with non syndromic mental retardation. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Progenia: primi risultati di un genome-wide scan con i gene-chip arrays Affymetrix 10K e 500K nella popolazione sarda (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Microarray and functional analyses of primordial follicles formation and the etiology of premature ovarian failure. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- FOXL2: Forkhead transcription factor and Blepharophimosis/Ptosis/Epicanthus inversus syndrome (BPES) (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Genome-wide search for asthma susceptibility loci in Sardinian population (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Genome-wide association scan for bilirubin levels in a Sardinian population (Comunicazione a convegno) (Prodotto della ricerca)
- Genome-wide association scan for serum TSH levels in 2375 Sardinian. (Comunicazione a convegno) (Prodotto della ricerca)
- A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Reproductive aging-associated common genetic variants and the risk of breast cancer. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Variants in MTNR1B influence fasting glucose levels (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genetics of serum BDNF: Meta-analysis of the Val66Met and genome-wide association study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Unravelling the genetic causes of syndromic Intellectual Disability in the era of exome sequencing. (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1 (Articolo in rivista) (Prodotto della ricerca)
- Transcriptional control of ovarian development in somatic cells (Articolo in rivista) (Prodotto della ricerca)
- FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences. (Articolo in rivista) (Prodotto della ricerca)
- Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. (Articolo in rivista) (Prodotto della ricerca)
- Crisponi syndrome: A new case with additional features and new mutation in CRLF1. (Articolo in rivista) (Prodotto della ricerca)
- A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Association of adiposity genetic variants with menarche timing in 92,105 women of European descent. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A Novel Null Homozygous Mutation ConfirmsCACNA2D2 as a Gene Mutated in Epileptic Encephalopathy (Articolo in rivista) (Prodotto della ricerca)
- Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome (Articolo in rivista) (Prodotto della ricerca)
- Determination and Stability of Gonadal Sex. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- SUMOylation of the Forkhead transcription factor FOXL2 promotes its stabilization/activation through transient recruitment to PML bodies. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Neuroticism, depressive symptoms, and serum BDNF. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- IRAK-M Is Involved in the Pathogenesis of Early-Onset Persistent Asthma (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The GLUT9 Gene is Associated with Serum Uric Acid Levels in Sardinia and Chianti Cohorts. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Common variants in the GDF5-BFZB region are associated with variation in human height. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Foxl2 is required for commitment to ovary differentiation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Common variants at ten loci modulate the QT interval duration in the QTSCD Study (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Determination and stability of sex (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
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- Autore CNR
- Genes and translocations involved in POF. (Articolo in rivista) (Prodotto della ricerca)
- Overgrowth of a mouse model of the Simpson-Golabi-Behmel syndrome is independent of IGF signaling. (Articolo in rivista) (Prodotto della ricerca)
- Phosphodiesterase 8B Gene Variants Are Associated with Serum TSH Levels and Thyroid Function. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Crisponi syndrome in an Indian patient: a rare differential diagnosis for neonatal tetanus. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Aging of oocyte, ovary, and human reproduction. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. (Articolo in rivista) (Prodotto della ricerca)
- Foxl2 is required for commitment to ovary differentiation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- IRAK-M Is Involved in the Pathogenesis of Early-Onset Persistent Asthma (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The GLUT9 Gene is Associated with Serum Uric Acid Levels in Sardinia and Chianti Cohorts. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Common variants in the GDF5-BFZB region are associated with variation in human height. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Determination and stability of sex (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Common variants at ten loci modulate the QT interval duration in the QTSCD Study (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Determination and Stability of Gonadal Sex. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Neuroticism, depressive symptoms, and serum BDNF. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- SUMOylation of the Forkhead transcription factor FOXL2 promotes its stabilization/activation through transient recruitment to PML bodies. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1 (Articolo in rivista) (Prodotto della ricerca)
- Transcriptional control of ovarian development in somatic cells (Articolo in rivista) (Prodotto della ricerca)
- Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. (Articolo in rivista) (Prodotto della ricerca)
- Crisponi syndrome: A new case with additional features and new mutation in CRLF1. (Articolo in rivista) (Prodotto della ricerca)
- FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences. (Articolo in rivista) (Prodotto della ricerca)
- Variants in MTNR1B influence fasting glucose levels (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genetics of serum BDNF: Meta-analysis of the Val66Met and genome-wide association study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genome-wide search for asthma susceptibility loci in Sardinian population (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Fine mapping of balanced translocation breakpoints in 4 patients with non syndromic mental retardation. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Microarray and functional analyses of primordial follicles formation and the etiology of premature ovarian failure. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Crisponi Syndrome and Cold-Induced Sweating Type 1: Two Syndromes - One Genetic Entity (Abstract/Poster in convegno) (Prodotto della ricerca)
- First results of a genome-wide association using jointly 10k and 500k Affymetrix chips in a Sardinian cohort (Abstract/Poster in convegno) (Prodotto della ricerca)
- Mutation and functional analysis of the IRAK-M gene in Sardinian asthmatic patients (Abstract/Poster in convegno) (Prodotto della ricerca)
- Crisponi Syndrome is Caused by Mutations in the CRLF1 Gene and is Allelic to Cold-Induced Sweating Syndrome 1 (Comunicazione a convegno) (Prodotto della ricerca)
- Crisponi Syndrome and Cold-induced Sweating Type 1: two syndromes, but one genetic entity (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- CSMD3 a candidate gene for autism found in two patients with autistic disorder and balanced translocations (Abstract/Poster in convegno) (Prodotto della ricerca)
- Varianti del gene PDE8B sono associate con la variazione dei livelli di TSH presenti nel siero e con la funzionalità tiroidea. (Abstract/Poster in convegno) (Prodotto della ricerca)
- Genome-wide association scan for serum bilirubin levels in a Sardinian cohort. (Abstract in rivista) (Prodotto della ricerca)
- Genome-wide association scan for bilirubin levels in a Sardinian population (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- GWAS in Sardinians reveals novel loci for levels of inflammatory biomarkers. (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Role of the Blepharophimosis/Ptosis/Epicanthus Inversus syndrome (BPES) gene FOXL2 in ovarian and eye development. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- ROLE OF THE BLEPHAROPHIMOSIS/PTOSIS/EPICANTHUS INVERSUS SYNDROME (BPES) GENE FOXL2 IN OVARIAN AND EYE DEVELOPMENT (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- FOXL2 expression in folliculogenesis (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Studio delle basi genetiche delle tireopatie autoimmuni nella popolazione sarda (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- BCL11A is associated with persistent HbF and ameliorates the ²-thalassemia phenotype. (Comunicazione a convegno) (Prodotto della ricerca)
- Prevalence of BRCA1 and BRCA2 mutations in Sardinia (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Genome-wide association using jointly 10k and 500k Affymetrix chip in a Sardinia cohort (Comunicazione a convegno) (Prodotto della ricerca)
- FOXL2: Forkhead transcription factor and Blepharophimosis/Ptosis/Epicanthus inversus syndrome (BPES) (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Sindrome di Crisponi e Sindrome della sudorazione indotta dal freddo tipo I: due sindromi un entità genetica (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Progenia: primi risultati di un genome-wide scan con i gene-chip arrays Affymetrix 10K e 500K nella popolazione sarda (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Crisponi Syndrome is Caused by Mutations in the CRLF1 Gene and Shows Allelism to Cold-Induced Sweating Syndrome Type 1 (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Expanding the mutational spectrum of CRLF1 in Crisponi Syndrome (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
- Sindrome di Crisponi e Sindrome della sudorazione indotta dal freddo tipo I: due sindromi un entità genetica. (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Genome-wide association scan for serum TSH levels in 2375 Sardinian. (Comunicazione a convegno) (Prodotto della ricerca)
- Genome-wide association scan for bilirubin levels in a Sardinian population (Comunicazione a convegno) (Prodotto della ricerca)
- A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (Articolo in rivista) (Prodotto della ricerca)
- Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. (Articolo in rivista) (Prodotto della ricerca)
- A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Unravelling the genetic causes of syndromic Intellectual Disability in the era of exome sequencing. (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Reproductive aging-associated common genetic variants and the risk of breast cancer. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A genome-wide association search for type 2 diabetes genes in African Americans (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Variants in MNTR1B influence fasting glucose levels (Articolo in rivista) (Prodotto della ricerca)
- Jagged-1 mutation analysis in italian Alagille syndrome patients (Articolo in rivista) (Prodotto della ricerca)
- Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome (Articolo in rivista) (Prodotto della ricerca)
- Association of adiposity genetic variants with menarche timing in 92,105 women of European descent. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A Novel Null Homozygous Mutation ConfirmsCACNA2D2 as a Gene Mutated in Epileptic Encephalopathy (Articolo in rivista) (Prodotto della ricerca)
- Glypican 3 and glypican 4 are juxtaposed in Xq26.1 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome (Articolo in rivista) (Prodotto della ricerca)
- Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)