Publications by authors named "Cecilia Giunta"

51Publications

The Ehlers-Danlos syndromes.

Authors:
Fransiska Malfait Marco Castori Clair A Francomano Cecilia Giunta Tomoki Kosho Peter H Byers

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

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

Authors:
Sandy Ayoub Neeti Ghali Chloe Angwin Duncan Baker Stella Baffini Angela F Brady Maria Luisa Giovannucci Uzielli Cecilia Giunta Diana S Johnson Tomoki Kosho Katherine Neas F Michael Pope Frank Rutsch Gloria Scarselli Glenda Sobey Anthony Vandersteen Fleur S van Dijk

Am J Med Genet A 2020 05 24;182(5):994-1007. Epub 2020 Feb 24.

Ehlers-Danlos Syndrome National Diagnostic Service, Northwick Park and St. Mark's Hospitals, Harrow, London, UK.

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May 2020

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

Authors:
Yoshihiro Ishikawa Nobuyo Mizuno Paul Holden Pei Jin Lim Douglas B Gould Marianne Rohrbach Cecilia Giunta Hans Peter Bächinger

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

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

Authors:
Silvia Morlino Lucia Micale Marco Ritelli Marianne Rohrbach Nicoletta Zoppi Anthony Vandersteen Sara Mackay Emanuele Agolini Dario Cocciadiferro Erina Sasaki Annalisa Madeo Alessandro Ferraris Willie Reardon Maja Di Rocco Antonio Novelli Paola Grammatico Fransiska Malfait Tommaso Mazza Alan Hakim Cecilia Giunta Marina Colombi Marco Castori

Clin Genet 2020 03 12;97(3):396-406. Epub 2019 Dec 12.

Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy.

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March 2020

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

Authors:
Daisy Rymen Marco Ritelli Nicoletta Zoppi Valeria Cinquina Cecilia Giunta Marianne Rohrbach Marina Colombi

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

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

Authors:
Shahida Moosa Guilherme L Yamamoto Lutz Garbes Katharina Keupp Ana Beleza-Meireles Carolina Araujo Moreno Eugenia Ribeiro Valadares Sérgio B de Sousa Sofia Maia Jorge Saraiva Rachel S Honjo Chong Ae Kim Hamilton Cabral de Menezes Ekkehart Lausch Pablo Villavicencio Lorini Arsonval Lamounier Tulio Canella Bezerra Carniero Cecilia Giunta Marianne Rohrbach Marco Janner Oliver Semler Filippo Beleggia Yun Li Gökhan Yigit Nadine Reintjes Janine Altmüller Peter Nürnberg Denise P Cavalcanti Bernhard Zabel Matthew L Warman Debora R Bertola Bernd Wollnik Christian Netzer

Am J Hum Genet 2019 10 26;105(4):836-843. Epub 2019 Sep 26.

Institute of Human Genetics, University Hospital of Cologne, 50931 Cologne, Germany; Faculty of Medicine, University of Cologne, 50931 Cologne, Germany.

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October 2019

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

Authors:
Pei Jin Lim Uschi Lindert Lennart Opitz Ingrid Hausser Marianne Rohrbach Cecilia Giunta

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

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

Authors:
Lisa Jean Ewans Alison Colley Carles Gaston-Massuet Angelica Gualtieri Mark J Cowley Mark James McCabe Deepti Anand Salil A Lachke Luigi Scietti Federico Forneris Ying Zhu Kevin Ying Corrina Walsh Edwin P Kirk David Miller Cecilia Giunta David Sillence Marcel Dinger Michael Buckley Tony Roscioli

J Med Genet 2019 09 25;56(9):629-638. Epub 2019 May 25.

NSW Health Pathology East Laboratory, Prince of Wales Private Hospital, Randwick, New South Wales, Australia.

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September 2019

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

Authors:
Anna S Stöberl Thomas Gaisl Cecilia Giunta Noriane A Sievi Florian Singer Alexander Möller Marianne Rohrbach Malcolm Kohler

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

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

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August 2020

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.

Authors:
Hassan Vahidnezhad Leila Youssefian Amir Hossein Saeidian Andrew Touati Sara Pajouhanfar Taghi Baghdadi Azam Ahmadi Shadmehri Cecilia Giunta Marius Kraenzlin Delfien Syx Fransiska Malfait Cristina Has Su M Lwin Razieh Karamzadeh Lu Liu Alyson Guy Mohammad Hamid Ariana Kariminejad Sirous Zeinali John A McGrath Jouni Uitto

Matrix Biol 2019 08 18;81:91-106. Epub 2018 Nov 18.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

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August 2019

Arterial fragility in kyphoscoliotic Ehlers-Danlos syndrome.

Authors:
Pierrick Henneton Anne Legrand Cecilia Giunta Michael Frank

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

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.

Authors:
Cecilia Giunta Matthias Baumann Christine Fauth Uschi Lindert Ebtesam M Abdalla Angela F Brady James Collins Jahannaz Dastgir Sandra Donkervoort Neeti Ghali Diana S Johnson Ariana Kariminejad Johannes Koch Marius Kraenzlin Nayana Lahiri Bernarda Lozic Adnan Y Manzur Jenny E V Morton Jacek Pilch Rebecca C Pollitt Gudrun Schreiber Nora L Shannon Glenda Sobey Anthony Vandersteen Fleur S van Dijk Martina Witsch-Baumgartner Johannes Zschocke F Michael Pope Carsten G Bönnemann Marianne Rohrbach

Genet Med 2018 01 15;20(1):42-54. Epub 2017 Jun 15.

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

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January 2018

The 2017 international classification of the Ehlers-Danlos syndromes.

Authors:
Fransiska Malfait Clair Francomano Peter Byers John Belmont Britta Berglund James Black Lara Bloom Jessica M Bowen Angela F Brady Nigel P Burrows Marco Castori Helen Cohen Marina Colombi Serwet Demirdas Julie De Backer Anne De Paepe Sylvie Fournel-Gigleux Michael Frank Neeti Ghali Cecilia Giunta Rodney Grahame Alan Hakim Xavier Jeunemaitre Diana Johnson Birgit Juul-Kristensen Ines Kapferer-Seebacher Hanadi Kazkaz Tomoki Kosho Mark E Lavallee Howard Levy Roberto Mendoza-Londono Melanie Pepin F Michael Pope Eyal Reinstein Leema Robert Marianne Rohrbach Lynn Sanders Glenda J Sobey Tim Van Damme Anthony Vandersteen Caroline van Mourik Nicol Voermans Nigel Wheeldon Johannes Zschocke Brad Tinkle

Am J Med Genet C Semin Med Genet 2017 03;175(1):8-26

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March 2017

The Ehlers-Danlos syndromes, rare types.

Authors:
Angela F Brady Serwet Demirdas Sylvie Fournel-Gigleux Neeti Ghali Cecilia Giunta Ines Kapferer-Seebacher Tomoki Kosho Roberto Mendoza-Londono Michael F Pope Marianne Rohrbach Tim Van Damme Anthony Vandersteen Caroline van Mourik Nicol Voermans Johannes Zschocke Fransiska Malfait

Am J Med Genet C Semin Med Genet 2017 03;175(1):70-115

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March 2017

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

Authors:
Thomas Gaisl Cecilia Giunta Daniel J Bratton Kate Sutherland Christian Schlatzer Noriane Sievi Daniel Franzen Peter A Cistulli Marianne Rohrbach Malcolm Kohler

Thorax 2017 08 10;72(8):729-735. Epub 2017 Jan 10.

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

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August 2017

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

Authors:
Ines Kapferer-Seebacher Melanie Pepin Roland Werner Timothy J Aitman Ann Nordgren Heribert Stoiber Nicole Thielens Christine Gaboriaud Albert Amberger Anna Schossig Robert Gruber Cecilia Giunta Michael Bamshad Erik Björck Christina Chen David Chitayat Michael Dorschner Marcus Schmitt-Egenolf Christopher J Hale David Hanna Hans Christian Hennies Irene Heiss-Kisielewsky Anna Lindstrand Pernilla Lundberg Anna L Mitchell Deborah A Nickerson Eyal Reinstein Marianne Rohrbach Nikolaus Romani Matthias Schmuth Rachel Silver Fulya Taylan Anthony Vandersteen Jana Vandrovcova Ruwan Weerakkody Margaret Yang F Michael Pope Peter H Byers Johannes Zschocke

Am J Hum Genet 2016 Nov 13;99(5):1005-1014. Epub 2016 Oct 13.

Division of Human Genetics, Medical University of Innsbruck, Innsbruck 6020, Austria. Electronic address:

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November 2016

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

Authors:
Uschi Lindert Wayne A Cabral Surasawadee Ausavarat Siraprapa Tongkobpetch Katja Ludin Aileen M Barnes Patra Yeetong Maryann Weis Birgit Krabichler Chalurmpon Srichomthong Elena N Makareeva Andreas R Janecke Sergey Leikin Benno Röthlisberger Marianne Rohrbach Ingo Kennerknecht David R Eyre Kanya Suphapeetiporn Cecilia Giunta Joan C Marini Vorasuk Shotelersuk

Nat Commun 2016 07 6;7:11920. Epub 2016 Jul 6.

Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.

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July 2016

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

Authors:
Tim Van Damme Alain Colige Delfien Syx Cecilia Giunta Uschi Lindert Marianne Rohrbach Omid Aryani Yasemin Alanay Pelin Özlem Simsek-Kiper Hester Y Kroes Koen Devriendt Marc Thiry Sofie Symoens Anne De Paepe Fransiska Malfait

Genet Med 2016 09 14;18(9):882-91. Epub 2016 Jan 14.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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September 2016

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

Authors:
Louise F Porter Roberto Gallego-Pinazo Catherine L Keeling Martyna Kamieniorz Nicoletta Zoppi Marina Colombi Cecilia Giunta Richard Bonshek Forbes D Manson Graeme C Black

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