Cecilia Giunta

educated at: University of Ferrara

occupation: researcher

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Articles 56

Date

Title

Authors

2020-02-24

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

Sandy Ayoub, Cecilia Giunta, Tomoki Kosho, Fleur S van Dijk, Neeti Ghali
2020-01-16

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

Yoshihiro Ishikawa, Pei Jin Lim, Cecilia Giunta
2019

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

Thomas Gaisl, Cecilia Giunta, Florian Singer, Marianne Rohrbach
2019-09-26

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

Shahida Moosa, Cecilia Giunta, Marianne Rohrbach, Bernd Wollnik, Chong Ae Kim, Rachel Honjo, Ana Beleza-Meireles, Jorge M. Saraiva, Janine Altmüller, Filippo Beleggia
2019-10-25

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

Marco Ritelli, Nicoletta Zoppi, Valeria Cinquina, Cecilia Giunta, Marianne Rohrbach, Marina Colombi
2019-12-12

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

Lucia Micale, Marianne Rohrbach, Emanuele Agolini, Dario Cocciadiferro, Maja Di Rocco, Tommaso Mazza, Cecilia Giunta, Marina Colombi, Marco Castori
2019-07-08

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

Pei Jin Lim, Marianne Rohrbach, Cecilia Giunta
2019-05-25

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

Lisa Jean Ewans, Salil A Lachke, Luigi Scietti, Cecilia Giunta, David K Miller
2018-07-06

Arterial fragility in kyphoscoliotic Ehlers-Danlos syndrome

Cecilia Giunta
2018-11-18

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

Hassan Vahidnezhad, Amir Hossein Saeidian, Cecilia Giunta, Cristina Has, Alyson Guy, Ariana Kariminejad, S Zeinali, John Mcgrath
2017-06-15

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

Cecilia Giunta, Ariana Kariminejad, Nayana Lahiri, Jacek Pilch, Rebecca C Pollitt, Marianne Rohrbach, Neeti Ghali
2017-03-01

The 2017 international classification of the Ehlers-Danlos syndromes

Anne De Paepe, Fransiska Malfait, Sylvie Fournel-Gigleux, Ines Kapferer-Seebacher, Caroline van Mourik, Xavier Jeunemaitre, Marianne Rohrbach, Julie De Backer, Cecilia Giunta, Birgit Juul-Kristensen, Clair A. Francomano, Marco Castori, Rodney Grahame, Neeti Ghali
2017-01-10

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

Thomas Gaisl, Cecilia Giunta, Daniel J Bratton, Marianne Rohrbach, Christian Schlatzer, Daniel P Franzen, Malcolm Kohler, Noriane A Sievi
2017-11-03

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

Marianne Rohrbach, Cecilia Giunta
2016-07-06

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

Aileen M Barnes, Andreas Janecke, Sergey Leikin, Marianne Rohrbach, Cecilia Giunta, Vorasuk Shotelersuk
2016-09-27

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

Hans Christian Hennies, Jana Vandrovcova, Ines Kapferer-Seebacher, Fulya Taylan, Marianne Rohrbach, Cecilia Giunta, Anna Lindstrand, Marcus Schmitt-Egenolf, Ann Nordgren, Nikolaus Romani, Nicole Thielens, Deborah A Nickerson, Heribert Stoiber
2016-01-14

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

Tim Van Damme, Delfien Syx, Cecilia Giunta, Uschi Lindert, Marianne Rohrbach, Marc Thiry, Sofie Symoens, Anne De Paepe, Fransiska Malfait
2015-06

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

Cecilia Giunta, Jitka Sokolová, Hana Vlášková, Viktor Kožich, D. Sean Froese, Matthias R Baumgartner
2015-05-24

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

Marianne Rohrbach, Cecilia Giunta
2015-08-27

Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta

Matthias R Baumgartner, Cecilia Giunta, Marianne Rohrbach
2015-11-11

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

Louise Porter, Cecilia Giunta
2015-09-16

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

Marianne Rohrbach, Herbert M Geller, Cecilia Giunta
2014-10-03

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

Marianne Rohrbach, Cecilia Giunta
2013-04-26

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

Matthias R Baumgartner, Graeme Black, Marianne Rohrbach, Louise Porter, Andreas Janecke, Forbes Manson, Cecilia Giunta
2013-03-01

A new COL3A1 mutation in Ehlers-Danlos syndrome type IV

Marianne Rohrbach, Cecilia Giunta
2013-07-01

Genotype-phenotype study in type V osteogenesis imperfecta

Amaka C. Offiah, Meena Balasubramanian, Cecilia Giunta
2012-09

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

Clara Marco-Marín, Giovanna Stefania Colafati, Cecilia Giunta, Rosalba Carrozzo, Matthias R Baumgartner, Vicente Rubio, Carlo Dionisi-Vici
2012-01-19

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

Daniela Karall, Marianne Rohrbach, Cecilia Giunta, Marina Colombi, Volker Straub, Franz Rüschendorf
2012-12-03

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

Jeeyon Jeong, Cecilia Giunta, Marianne Rohrbach
2011-03-11

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

Bernd Wollnik, Hanno Jörn Bolz, Marianne Rohrbach, Cecilia Giunta, Christian Gilissen, Joris A Veltman, Alexander Hoischen
2011-06-10

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

Jill Clayton-Smith, Jill E. Urquhart, Marianne Rohrbach, Siddharth Banka, Cecilia Giunta, Marina Colombi, Leslie G Biesecker
2011-11-30

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

Jair Tenorio, José A Caparrós-Martín, Victor Martínez-Glez, Victor L Ruiz-Perez, Marianne Rohrbach, Cecilia Giunta, Mona S Aglan, Samia A Temtamy, Verónica Pulido

Human - wd:Q55692050

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