Cecilia Giunta

Cecilia Giunta

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Cecilia Giunta

Cecilia Giunta

Publications by authors named "Cecilia Giunta"

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45Publications

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

Genes (Basel) 2019 07 8;10(7). Epub 2019 Jul 8.

Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, 8032 Zürich, Switzerland.

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http://dx.doi.org/10.3390/genes10070517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6678841PMC
July 2019

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

Respiration 2019 28;97(4):284-291. Epub 2018 Nov 28.

Department of Pulmonology, University Hospital Zurich, Zurich, Switzerland,

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https://www.karger.com/Article/FullText/494328
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http://dx.doi.org/10.1159/000494328DOI Listing
November 2018

Arterial fragility in kyphoscoliotic Ehlers-Danlos syndrome.

BMJ Case Rep 2018 Jul 6;2018. Epub 2018 Jul 6.

Centre de Référence des Maladies Vasculaires Rares, AP-HP, Hôpital Européen Georges Pompidou, Paris, France.

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http://dx.doi.org/10.1136/bcr-2018-224423DOI Listing
July 2018

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

Orphanet J Rare Dis 2015 Nov 11;10:145. Epub 2015 Nov 11.

Institute of Human Development, Centre for Genomic Medicine, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK.

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http://dx.doi.org/10.1186/s13023-015-0360-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642625PMC
November 2015

Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta.

Orphanet J Rare Dis 2015 Aug 27;10:104. Epub 2015 Aug 27.

Division of Metabolism, Connective Tissue Unit, University Children's Hospital Zurich and Children's Research Centre, Zurich, Switzerland.

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http://dx.doi.org/10.1186/s13023-015-0315-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4549897PMC
August 2015

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

J Biol Chem 2015 Jul 24;290(29):17679-89. Epub 2015 May 24.

From the Division of Metabolism, Connective Tissue Unit, University Children's Hospital Zurich, Children's Research Center, 8032 Zurich, Switzerland,

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http://dx.doi.org/10.1074/jbc.M115.661025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4505018PMC
July 2015

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

Eur J Pediatr 2015 Jan 3;174(1):105-12. Epub 2014 Oct 3.

Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt,

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http://dx.doi.org/10.1007/s00431-014-2429-9DOI Listing
January 2015

Genotype-phenotype study in type V osteogenesis imperfecta.

Clin Dysmorphol 2013 Jul;22(3):93-101

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

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http://dx.doi.org/10.1097/MCD.0b013e32836032f0DOI Listing
July 2013

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

Proc Natl Acad Sci U S A 2012 Dec 3;109(51):E3530-8. Epub 2012 Dec 3.

Department of Nutritional Sciences, University of Wisconsin-Madison, Madison, WI 53706, USA.

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http://dx.doi.org/10.1073/pnas.1211775110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3529093PMC
December 2012

Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings.

Am J Med Genet C Semin Med Genet 2012 Aug 12;160C(3):175-89. Epub 2012 Jul 12.

Connective Tissue Unit, Division of Metabolism, University Children's Hospital and Children's Research Center, Zurich, Switzerland.

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http://dx.doi.org/10.1002/ajmg.c.31334DOI Listing
August 2012

Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic type.

Hum Genet 2009 Apr;125(3):346

University Children's Hospital, Zurich, Switzerland.

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April 2009

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

Hum Genet 2008 Nov 5;124(4):379-86. Epub 2008 Sep 5.

Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, Adelaide, SA, 5042, Australia.

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http://dx.doi.org/10.1007/s00439-008-0555-zDOI Listing
November 2008

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

Clin Chem 2008 Sep 24;54(9):1546-53. Epub 2008 Jul 24.

Division of Endocrinology, Diabetes, and Clinical Nutrition, University Hospital, CH-4031 Basel, Switzerland.

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http://dx.doi.org/10.1373/clinchem.2008.105262DOI Listing
September 2008

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

Hum Genet 2008 Jun;123(5):540

University Children’s Hospital, Metabolism and Molecular Pediatrics, Steinwiesstrasse, 75, 8032, Zurich, Switzerland.

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June 2008

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

Am J Med Genet A 2008 May;146A(10):1341-6

Division of Metabolism and Molecular Pediatrics, University Children's Hospital, Zurich, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.32213DOI Listing
May 2008

Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI).

Neuromuscul Disord 2008 Mar 26;18(3):210-4. Epub 2007 Dec 26.

Division of Child Neurology, Dokuz Eylül University School of Medicine, Department of Pediatrics, 35340 Izmir, Turkey.

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http://linkinghub.elsevier.com/retrieve/pii/S096089660700759
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http://dx.doi.org/10.1016/j.nmd.2007.11.006DOI Listing
March 2008

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

Mol Genet Metab 2005 Sep-Oct;86(1-2):269-76. Epub 2005 Jun 24.

Division of Metabolism and Molecular Pediatrics, University Children's Hospital, CH-8032 Zurich, Switzerland.

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http://dx.doi.org/10.1016/j.ymgme.2005.04.014DOI Listing
January 2006

Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).

Am J Med Genet A 2005 Mar;133A(2):158-64

Division of Metabolism & Molecular Pediatrics, University Children's Hospital, Steinwiesstrasse 75, CH-8032 Zurich, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.30529DOI Listing
March 2005

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

Hum Mutat 2002 Jan;19(1):58-68

University Children's Hospital, Division of Metabolism and Molecular Pediatrics, Zurich, Switzerland.

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http://dx.doi.org/10.1002/humu.10013DOI Listing
January 2002