List of works - Mara Giordano

A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency.

scientific article published on 3 December 2016

A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency.

scientific article published on September 2015

A Functional Common Polymorphism in the Vitamin D-Responsive Element of theGH1Promoter Contributes to Isolated Growth Hormone Deficiency

scientific article published on 26 December 2007

A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing.

scientific article published on 16 February 2011

A novel deletion in the GH1 gene including the IVS3 branch site responsible for autosomal dominant isolated growth hormone deficiency

scientific article published on 20 December 2005

A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency.

scientific article published on 21 July 2009

A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity.

scientific article published on 6 March 2006

A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population

article

Association of the (CA)n repeat polymorphism of insulin-like growth factor-I and -202 A/C IGF-binding protein-3 promoter polymorphism with adult height in patients with severe growth hormone deficiency

scientific article published in May 2012

Association tests with systemic lupus erythematosus (SLE) of IL10 markers indicate a direct involvement of a CA repeat in the 5' regulatory region

scientific article published on 01 December 2002

Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: a single centre cohort analysis

scientific article published on 01 April 2014

Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies

scientific article published on 09 January 2019

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

scientific article

Correction: genetic variants associated with increased risk of malignant pleural mesothelioma: a genome-wide association study.

scientific article published on 3 June 2015

Determination of SNP allele frequencies in pooled DNAs by primer extension genotyping and denaturing high-performance liquid chromatography

scientific article published on 01 January 2001

Effects of growth hormone (GH) therapy withdrawal on glucose metabolism in not confirmed GH deficient adolescents at final height.

scientific article published on 30 January 2014

Evidence for gene conversion in the generation of extensive polymorphism in the promoter of the growth hormone gene

scientific article published on 01 August 1997

Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.

scientific article published on 06 July 2015

Functional SNPs within the Intron 1 of the PROP1 Gene Contribute to Combined Growth Hormone Deficiency (CPHD) ⬇️

scientific article published on June 28, 2012

Genetic causes of isolated and combined pituitary hormone deficiency

scientific article published on 15 October 2016

Genetic defects in GH synthesis and secretion.

scientific article published in August 2004

Genetic variants associated with increased risk of malignant pleural mesothelioma: a genome-wide association study.

scientific article

Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature

scientific article published on 29 May 2017

Genetics of multiple sclerosis: linkage and association studies.

scientific article

HLA supratypes in an Italian population

scientific article published on 01 January 1994

Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.

scientific article published in January 1995

Hypomagnesemia and progressive chronic kidney disease: thinking of HNF1B and other genetic nephropathies

scientific article published on 01 September 2015

ICOS gene haplotypes correlate with IL10 secretion and multiple sclerosis evolution

article

IL12B polymorphism and type 1 diabetes in the Italian population: a case-control study

scientific article published on 01 May 2002

Identification by denaturing high-performance liquid chromatography of numerous polymorphisms in a candidate region for multiple sclerosis susceptibility

scientific article published on 01 March 1999

Identification of Haptoglobin as a Readout of rhGH Therapy in GH Deficiency

scientific article published on 01 November 2019

Identification of single nucleotide variations in the coding and regulatory regions of the myelin-associated glycoprotein gene and study of their association with multiple sclerosis

scientific article published in May 2002

Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity

scientific article published on 6 December 2017

Influence of ancestral gender on transmission of familial amyotrophic lateral sclerosis

scientific article published in The Lancet

Invasive meningococcal disease in three siblings with hereditary deficiency of the 8(th) component of complement: evidence for the importance of an early diagnosis

scientific article published on 17 May 2016

Maternal effect in multiple sclerosis

scientific article published on 01 May 2004

New polymorphisms in the IL-10 promoter region

scientific article published on 01 February 2000

Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization

scientific article published on 07 January 2019

Novel mutations in the GH gene (GH1) uncover putative splicing regulatory elements

scientific article published on 17 March 2014

Osteopontin gene haplotypes correlate with multiple sclerosis development and progression

scientific article published on 25 April 2005

Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood

scientific article published on 18 April 2019

Polymorphisms in DNA repair genes as risk factors for asbestos-related malignant mesothelioma in a general population study.

scientific article published on 27 March 2006

Screening for haemoglobin disorders: The experience of the piedmont north-eastern quadrant

scientific article published on 19 October 2020

Study of two ectopeptidases in the susceptibility to celiac disease: two newly identified polymorphisms of dipeptidylpeptidase IV.

scientific article published on April 2000

Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease

scientific article published on 04 March 2016

The IL12B gene does not confer susceptibility to coeliac disease

scientific article published on 01 January 2002

The W520X mutation in the TSHR gene brings on subclinical hypothyroidism through an haploinsufficiency mechanism.

scientific article published on 8 April 2013

The case of the solitary sick kidney

scientific article published on 01 February 2010

Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency

scientific article published on 01 August 2003

Two single-nucleotide polymorphisms in the 5' and 3' ends of the osteopontin gene contribute to susceptibility to systemic lupus erythematosus

scientific article published on 01 February 2005

Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency

scientific article published on 09 July 2020

Variations in the high-mobility group-A2 gene (HMGA2) are associated with idiopathic short stature

scientific article published on 04 November 2015

XRCC1 and ERCC1 variants modify malignant mesothelioma risk: A case–control study

scientific article published on 26 January 2011

List of works by Mara Giordano

A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency.

A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency.

A Functional Common Polymorphism in the Vitamin D-Responsive Element of theGH1Promoter Contributes to Isolated Growth Hormone Deficiency

A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing.

A novel deletion in the GH1 gene including the IVS3 branch site responsible for autosomal dominant isolated growth hormone deficiency

A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency.

A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity.

A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population

Association of the (CA)n repeat polymorphism of insulin-like growth factor-I and -202 A/C IGF-binding protein-3 promoter polymorphism with adult height in patients with severe growth hormone deficiency

Association tests with systemic lupus erythematosus (SLE) of IL10 markers indicate a direct involvement of a CA repeat in the 5' regulatory region

Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: a single centre cohort analysis

Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

Correction: genetic variants associated with increased risk of malignant pleural mesothelioma: a genome-wide association study.

Determination of SNP allele frequencies in pooled DNAs by primer extension genotyping and denaturing high-performance liquid chromatography

Effects of growth hormone (GH) therapy withdrawal on glucose metabolism in not confirmed GH deficient adolescents at final height.

Evidence for gene conversion in the generation of extensive polymorphism in the promoter of the growth hormone gene

Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.

Functional SNPs within the Intron 1 of the PROP1 Gene Contribute to Combined Growth Hormone Deficiency (CPHD) ⬇️

Genetic causes of isolated and combined pituitary hormone deficiency

Genetic defects in GH synthesis and secretion.

Genetic variants associated with increased risk of malignant pleural mesothelioma: a genome-wide association study.

Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature

Genetics of multiple sclerosis: linkage and association studies.

HLA supratypes in an Italian population

Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.

Hypomagnesemia and progressive chronic kidney disease: thinking of HNF1B and other genetic nephropathies

ICOS gene haplotypes correlate with IL10 secretion and multiple sclerosis evolution

IL12B polymorphism and type 1 diabetes in the Italian population: a case-control study

Identification by denaturing high-performance liquid chromatography of numerous polymorphisms in a candidate region for multiple sclerosis susceptibility

Identification of Haptoglobin as a Readout of rhGH Therapy in GH Deficiency

Identification of single nucleotide variations in the coding and regulatory regions of the myelin-associated glycoprotein gene and study of their association with multiple sclerosis

Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity

Influence of ancestral gender on transmission of familial amyotrophic lateral sclerosis

Invasive meningococcal disease in three siblings with hereditary deficiency of the 8(th) component of complement: evidence for the importance of an early diagnosis

Maternal effect in multiple sclerosis

New polymorphisms in the IL-10 promoter region

Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization

Novel mutations in the GH gene (GH1) uncover putative splicing regulatory elements

Osteopontin gene haplotypes correlate with multiple sclerosis development and progression

Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood

Polymorphisms in DNA repair genes as risk factors for asbestos-related malignant mesothelioma in a general population study.

Screening for haemoglobin disorders: The experience of the piedmont north-eastern quadrant

Study of two ectopeptidases in the susceptibility to celiac disease: two newly identified polymorphisms of dipeptidylpeptidase IV.

Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease

The IL12B gene does not confer susceptibility to coeliac disease

The W520X mutation in the TSHR gene brings on subclinical hypothyroidism through an haploinsufficiency mechanism.

The case of the solitary sick kidney

Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency

Two single-nucleotide polymorphisms in the 5' and 3' ends of the osteopontin gene contribute to susceptibility to systemic lupus erythematosus

Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency

Variations in the high-mobility group-A2 gene (HMGA2) are associated with idiopathic short stature

XRCC1 and ERCC1 variants modify malignant mesothelioma risk: A case–control study