Lista de obras - Cecilia Giunta - Dominio Público Uruguay

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

Arterial fragility in kyphoscoliotic Ehlers-Danlos syndrome

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2020

Diagnostic work for research purpose should be acknowledged

artículo científico publicado en 1999

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2008

Genotype-phenotype study in type V osteogenesis imperfecta.

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 1993

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

artículo científico publicado en 2002

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

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2004

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 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).

artículo científico publicado en 2005

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

artículo científico publicado en 2012

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.

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2019

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

artículo científico publicado en 2017

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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2002

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

artículo científico publicado en 1996

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

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 1992

The 2017 international classification of the Ehlers-Danlos syndromes

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2000

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

artículo científico publicado en 2020

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

artículo científico publicado en 2015

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

artículo científico publicado en 2019

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

artículo científico publicado en 2012

Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 1997

Lista de obras de 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

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

Sibs affected with both Ehlers-Danlos syndrome type IV 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]