List of works - Laura Crisponi

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

scientific article

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

scientific article published on 4 January 2012

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

scientific article published on 13 December 2016

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

scientific article

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

scientific article

Aging of oocyte, ovary, and human reproduction

scientific article

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

scientific article

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

scientific article published on 04 April 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.

scientific article published in April 2018

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 17 December 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

scientific article

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

scientific article published on 01 June 2020

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

scientific article published on 01 December 2008

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

scientific article published on 01 November 2020

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

scientific article published on 09 September 2019

Determination and stability of gonadal sex

scientific article

Determination and stability of sex.

scientific article

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

scientific article

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

scientific article published in May 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.

scientific article published on 6 March 2014

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

scientific article

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

scientific article published on 2 July 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

scientific article published on 28 May 2020

Genes and translocations involved in POF.

scientific article

Genetic insights into biological mechanisms governing human ovarian ageing

scientific article

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

scientific article

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

scientific article published on 10 May 2015

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

scientific article

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

scientific article published on 23 September 2016

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

scientific article published on 24 April 2017

Glypican 3 and glypican 4 are juxtaposed in Xq26.1

scientific article

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

scientific article

Jagged-1 mutation analysis in Italian Alagille syndrome patients

scientific article (publication date: 1999)

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

scientific article published in December 2015

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

scientific article published in November 2015

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

scientific article

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

scientific article

Neuroticism, depressive symptoms, and serum BDNF.

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on June 2008

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 24 February 2010

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Transcriptional control of ovarian development in somatic cells

scientific article published on July 2007

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

scientific article

Variants in MTNR1B influence fasting glucose levels

scientific article

List of works by 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