List of works - Cecilia Giunta

A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village

scientific article (publication date: July 2003)

A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

scientific article published on 15 June 2017

A new COL3A1 mutation in Ehlers-Danlos syndrome type IV.

scientific article

Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci

scientific article published on 5 September 2008

Arterial fragility in kyphoscoliotic Ehlers-Danlos syndrome

scientific article published on 06 July 2018

Automated HPLC assay for urinary collagen cross-links: effect of age, menopause, and metabolic bone diseases

scientific article published on 24 July 2008

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

scientific article published on 26 September 2019

Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature

scientific article published on 01 January 2004

Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.

scientific article

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap

scientific article published on 12 December 2019

Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays

scientific article published on 01 August 2000

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

scientific article published on 25 October 2019

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome

scientific article published on 24 February 2020

Diagnostic work for research purpose should be acknowledged

scientific article published on 01 October 1999

Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness - A Diagnostic Challenge? ⬇️

scientific article published on September 1, 2010

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

scientific article

Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type

scientific article published on 14 January 2016

Gene symbol: COL1A2. Disease: Ehlers-Danlos syndrome type VIIB.

scientific article

Genotype-phenotype study in type V osteogenesis imperfecta.

scientific article published in July 2013

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

scientific article

Heteromorphic variant 18ph+ analyzed by sequential CBG and fluorescence in situ hybridization

scientific article published on 01 September 1994

Heteromorphism of human chromosome 18 detected by fluorescent in situ hybridization

scientific article published on 01 January 1993

Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome

scientific article published on 01 May 2002

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

scientific article

Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta.

scientific article published on 3 November 2017

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients

scientific article

Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy

scientific article

Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype

scientific article published on 3 October 2014

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

scientific article published on 06 July 2016

Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta

scientific article published on 24 May 2015

Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).

scientific article published on 24 June 2005

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

scientific article

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency

scientific article published on 18 November 2018

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance.

scientific article published in August 2011

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance

scientific article

Obstructive Sleep Apnoea in Children and Adolescents with Ehlers-Danlos Syndrome

scientific article published on 28 November 2018

Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study.

scientific article published on 10 January 2017

Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications

scientific article published on 25 May 2019

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

scientific article published on 27 September 2016

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

scientific article

Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome.

scientific article

Quantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresis.

scientific article

Rapid diagnosis of germline p53 mutation using the enzyme mismatch cleavage method

scientific article published on 01 December 1996

Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings ⬇️

scientific article published on July 12, 2012

Sibs affected with both Ehlers-Danlos syndrome type VI and cystic fibrosis ⬇️

scientific article published on 01 August 1998

Silver staining of synaptonemal complexes in surface-spread spermatocytes of fallow deer (Dama dama L.).

scientific article published on 01 January 1992

Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13

scientific article published on June 2008

Suppression of tumorigenicity and anchorage-independent growth of BK virus-transformed mouse cells by human chromosome 11.

scientific article published on March 1992

The 2017 international classification of the Ehlers-Danlos syndromes

scientific article published on March 2017

The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure.

scientific article published in May 2008

The devil of the one letter code and the Ehlers-Danlos syndrome: corrigendum

scientific article published on 01 August 2000

The novel missense mutation Met48Lys in FKBP22 changes its structure and functions

scientific article published on 16 January 2020

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

scientific article published on 16 September 2015

Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers-Danlos Syndrome

scientific article published on 08 July 2019

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

scientific article

Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta

scientific article

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

scientific article published on 26 April 2013

[46-year-old patient with hemorrhagic diathesis and renal artery aneurysms. Type IV Ehlers-Danlos syndrome]

scientific article published on 01 December 1997

List of works by Cecilia Giunta

A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village

A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

A new COL3A1 mutation in Ehlers-Danlos syndrome type IV.

Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci

Arterial fragility in kyphoscoliotic Ehlers-Danlos syndrome

Automated HPLC assay for urinary collagen cross-links: effect of age, menopause, and metabolic bone diseases

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature

Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap

Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome

Diagnostic work for research purpose should be acknowledged

Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness - A Diagnostic Challenge? ⬇️

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type

Gene symbol: COL1A2. Disease: Ehlers-Danlos syndrome type VIIB.

Genotype-phenotype study in type V osteogenesis imperfecta.

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

Heteromorphic variant 18ph+ analyzed by sequential CBG and fluorescence in situ hybridization

Heteromorphism of human chromosome 18 detected by fluorescent in situ hybridization

Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta.

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients

Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy

Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta

Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance.

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance

Obstructive Sleep Apnoea in Children and Adolescents with Ehlers-Danlos Syndrome

Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study.

Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome.

Quantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresis.

Rapid diagnosis of germline p53 mutation using the enzyme mismatch cleavage method

Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings ⬇️

Sibs affected with both Ehlers-Danlos syndrome type VI and cystic fibrosis ⬇️

Silver staining of synaptonemal complexes in surface-spread spermatocytes of fallow deer (Dama dama L.).

Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13

Suppression of tumorigenicity and anchorage-independent growth of BK virus-transformed mouse cells by human chromosome 11.

The 2017 international classification of the Ehlers-Danlos syndromes

The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure.

The devil of the one letter code and the Ehlers-Danlos syndrome: corrigendum

The novel missense mutation Met48Lys in FKBP22 changes its structure and functions

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers-Danlos Syndrome

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

[46-year-old patient with hemorrhagic diathesis and renal artery aneurysms. Type IV Ehlers-Danlos syndrome]