Lista de obras - Laura Crisponi - Dominio Público Uruguay

A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation

artículo científico publicado en 2012

A genome-wide association search for type 2 diabetes genes in African Americans

artículo científico publicado en 2012

A new case series of Crisponi syndrome in a Turkish family and review of the literature

artículo científico publicado en 2016

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

artículo científico publicado en 2013

A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population

artículo científico publicado en 2009

Aging of oocyte, ovary, and human reproduction

artículo científico publicado en 2004

Analysis of exon/intron structure and 400 kb of genomic sequence surrounding the 5'-promoter and 3'-terminal ends of the human glypican 3 (GPC3) gene

artículo científico publicado en 1997

Association of adiposity genetic variants with menarche timing in 92,105 women of European descent

artículo científico publicado en 2013

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

scientific journal article

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

artículo científico publicado en 2018

Common variants at ten loci modulate the QT interval duration in the QTSCD Study

artículo científico publicado en 2009

Common variants in the GDF5-UQCC region are associated with variation in human height

artículo científico publicado en 2008

Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia

artículo científico publicado en 2009

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP

scientific article published on 08 February 2019

Corrigendum: Rare coding variants and X-linked loci associated with age at menarche

artículo científico publicado en 2015

Crisponi syndrome in an Indian patient: A rare differential diagnosis for neonatal tetanus

scientific article published on 01 November 2008

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1

artículo científico publicado en 2007

Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line

artículo científico publicado en 2020

Crisponi syndrome: a new case with additional features and new mutation in CRLF1

artículo científico publicado en 2008

Crisponi/Cold Induced Sweating Syndrome Type 1 With a Private Cytokine Receptor Like Factor 1 (CRLF1) Mutation in an Indian Family

artículo científico publicado en 2020

Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts

artículo científico publicado en 2019

Determination and stability of gonadal sex

artículo científico publicado en 2009

Determination and stability of sex.

artículo científico publicado en 2007

Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders ⬇️

artículo científico publicado el 16 de febrero de 2011

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

artículo científico publicado en 2010

Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses

scientific article published on 28 March 2019

Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.

artículo científico publicado en 2014

FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences

artículo científico publicado en 2004

FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice

artículo científico publicado en 2015

Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development

scientific journal article

Foxl2 is required for commitment to ovary differentiation

scientific journal article

Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual

artículo científico publicado en 2020

Genes and translocations involved in POF.

artículo científico publicado en 2002

Genetic insights into biological mechanisms governing human ovarian ageing

artículo científico publicado en 2021

Genetics of serum BDNF: meta-analysis of the Val66Met and genome-wide association study

artículo científico publicado en 2011

Genome-wide association study of susceptibility loci for breast cancer in Sardinian population

artículo científico publicado en 2015

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia

artículo científico publicado en 2008

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

artículo científico publicado en 2016

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

artículo científico publicado en 2017

Glypican 3 and glypican 4 are juxtaposed in Xq26.1

artículo científico publicado en 1998

IRAK-M is involved in the pathogenesis of early-onset persistent asthma

artículo científico publicado en 2007

Jagged-1 mutation analysis in Italian Alagille syndrome patients

artículo científico publicado en 1999

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

artículo científico publicado en 2015

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

artículo científico publicado en 2015

Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies

artículo científico publicado en 2015

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

artículo científico publicado en 2012

Neuroticism, depressive symptoms, and serum BDNF.

artículo científico publicado en 2011

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

artículo científico publicado en 2010

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

article

Novel action of FOXL2 as mediator of Col1a2 gene autoregulation

artículo científico publicado en 2016

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

artículo científico publicado en 2012

Overgrowth of a mouse model of the Simpson-Golabi-Behmel syndrome is independent of IGF signaling

scientific journal article

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

artículo científico publicado en 2014

Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function

artículo científico publicado en 2008

Rare coding variants and X-linked loci associated with age at menarche

artículo científico publicado en 2015

Reproductive aging-associated common genetic variants and the risk of breast cancer

artículo científico publicado en 2012

SUMOylation of the Forkhead transcription factor FOXL2 promotes its stabilization/activation through transient recruitment to PML bodies

artículo científico publicado en 2011

Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action

artículo científico publicado en 2010

The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts

artículo científico publicado en 2007

The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity

artículo científico publicado en 2010

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

artículo científico publicado en 2001

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

artículo científico publicado en 2010

Transcriptional control of ovarian development in somatic cells

artículo científico publicado en 2007

Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area

artículo científico publicado en 2008

Variants in MTNR1B influence fasting glucose levels

artículo científico publicado en 2008

Lista de obras de Laura Crisponi

A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation

A genome-wide association search for type 2 diabetes genes in African Americans

A new case series of Crisponi syndrome in a Turkish family and review of the literature

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population

Aging of oocyte, ovary, and human reproduction

Analysis of exon/intron structure and 400 kb of genomic sequence surrounding the 5'-promoter and 3'-terminal ends of the human glypican 3 (GPC3) gene

Association of adiposity genetic variants with menarche timing in 92,105 women of European descent

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

Common variants at ten loci modulate the QT interval duration in the QTSCD Study

Common variants in the GDF5-UQCC region are associated with variation in human height

Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP

Corrigendum: Rare coding variants and X-linked loci associated with age at menarche

Crisponi syndrome in an Indian patient: A rare differential diagnosis for neonatal tetanus

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1

Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line

Crisponi syndrome: a new case with additional features and new mutation in CRLF1

Crisponi/Cold Induced Sweating Syndrome Type 1 With a Private Cytokine Receptor Like Factor 1 (CRLF1) Mutation in an Indian Family

Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts

Determination and stability of gonadal sex

Determination and stability of sex.

Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders ⬇️

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses

Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.

FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences

FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice

Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development

Foxl2 is required for commitment to ovary differentiation

Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual

Genes and translocations involved in POF.

Genetic insights into biological mechanisms governing human ovarian ageing

Genetics of serum BDNF: meta-analysis of the Val66Met and genome-wide association study

Genome-wide association study of susceptibility loci for breast cancer in Sardinian population

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

Glypican 3 and glypican 4 are juxtaposed in Xq26.1

IRAK-M is involved in the pathogenesis of early-onset persistent asthma

Jagged-1 mutation analysis in Italian Alagille syndrome patients

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

Neuroticism, depressive symptoms, and serum BDNF.

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

Novel action of FOXL2 as mediator of Col1a2 gene autoregulation

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

Overgrowth of a mouse model of the Simpson-Golabi-Behmel syndrome is independent of IGF signaling

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function

Rare coding variants and X-linked loci associated with age at menarche

Reproductive aging-associated common genetic variants and the risk of breast cancer

SUMOylation of the Forkhead transcription factor FOXL2 promotes its stabilization/activation through transient recruitment to PML bodies

Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action

The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts

The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

Transcriptional control of ovarian development in somatic cells

Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area

Variants in MTNR1B influence fasting glucose levels