Publications by authors named "Cecilia Giunta"


The Ehlers-Danlos syndromes.

Nat Rev Dis Primers 2020 07 30;6(1):64. Epub 2020 Jul 30.

Department of Pathology and Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.

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July 2020

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

Sci Rep 2020 01 16;10(1):497. Epub 2020 Jan 16.

Department of Biochemistry and Molecular Biology, Oregon Health & Science University, Portland, OR, USA.

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January 2020

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

Genes (Basel) 2019 10 25;10(11). Epub 2019 Oct 25.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

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October 2019

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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July 2019

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

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

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

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August 2020

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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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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November 2015