Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness – A Diagnostic Challenge?

por Kariminejad, Ariana, Bozorgmehr, Bita, Khatami, Alireza, Kariminejad, Mohamad-Hasan, Giunta, Cecilia, Steinmann, Beat
Publicado 2010

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

por Lim, Pei Jin, Lindert, Uschi, Opitz, Lennart, Hausser, Ingrid, Rohrbach, Marianne, Giunta, Cecilia
Publicado 2019

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

por Rymen, Daisy, Ritelli, Marco, Zoppi, Nicoletta, Cinquina, Valeria, Giunta, Cecilia, Rohrbach, Marianne, Colombi, Marina
Publicado 2019

Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta

por Lim, Pei Jin, Marcionelli, Giulio, Srikanthan, Pakeerathan, Ndarugendamwo, Timothée, Pinner, Jason, Rohrbach, Marianne, Giunta, Cecilia
Publicado 2023

Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta

por Lindert, Uschi, Kraenzlin, Marius, Campos-Xavier, Ana Belinda, Baumgartner, Matthias R., Bonafé, Luisa, Giunta, Cecilia, Rohrbach, Marianne
Publicado 2015

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

por Ishikawa, Yoshihiro, Mizuno, Nobuyo, Holden, Paul, Lim, Pei Jin, Gould, Douglas B., Rohrbach, Marianne, Giunta, Cecilia, Bächinger, Hans Peter
Publicado 2020

COL1-Related Disorders: Case Report and Review of Overlapping Syndromes

por Gnoli, Maria, Brizola, Evelise, Tremosini, Morena, Pedrini, Elena, Maioli, Margherita, Mosca, Massimiliano, Bassotti, Alessandra, Castronovo, Paola, Giunta, Cecilia, Sangiorgi, Luca
Publicado 2021

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

por Porter, Louise F., Gallego-Pinazo, Roberto, Keeling, Catherine L., Kamieniorz, Martyna, Zoppi, Nicoletta, Colombi, Marina, Giunta, Cecilia, Bonshek, Richard, Manson, Forbes D., Black, Graeme C.
Publicado 2015

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

por Rohrbach, Marianne, Vandersteen, Anthony, Yiş, Uluç, Serdaroglu, Gul, Ataman, Esra, Chopra, Maya, Garcia, Sixto, Jones, Kristi, Kariminejad, Ariana, Kraenzlin, Marius, Marcelis, Carlo, Baumgartner, Matthias, Giunta, Cecilia
Publicado 2011

Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta

por Lim, Pei Jin, Marfurt, Severin, Lindert, Uschi, Opitz, Lennart, Ndarugendamwo, Timothée, Srikanthan, Pakeerathan, Poms, Martin, Hersberger, Martin, Langhans, Claus-Dieter, Haas, Dorothea, Rohrbach, Marianne, Giunta, Cecilia
Publicado 2021

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

por Rohrbach, Marianne, Spencer, Helen L., Porter, Louise F., Burkitt-Wright, Emma M.M., Bürer, Céline, Janecke, Andreas, Bakshi, Madhura, Sillence, David, Al-Hussain, Hailah, Baumgartner, Matthias, Steinmann, Beat, Black, Graeme C.M., Manson, Forbes D.C., Giunta, Cecilia
Publicado 2013

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

por Lindert, Uschi, Cabral, Wayne A., Ausavarat, Surasawadee, Tongkobpetch, Siraprapa, Ludin, Katja, Barnes, Aileen M., Yeetong, Patra, Weis, Maryann, Krabichler, Birgit, Srichomthong, Chalurmpon, Makareeva, Elena N., Janecke, Andreas R., Leikin, Sergey, Röthlisberger, Benno, Rohrbach, Marianne, Kennerknecht, Ingo, Eyre, David R., Suphapeetiporn, Kanya, Giunta, Cecilia, Marini, Joan C., Shotelersuk, Vorasuk
Publicado 2016

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...

por Giunta, Cecilia, Baumann, Matthias, Fauth, Christine, Lindert, Uschi, Abdalla, Ebtesam M, Brady, Angela F, Collins, James, Dastgir, Jahannaz, Donkervoort, Sandra, Ghali, Neeti, Johnson, Diana S, Kariminejad, Ariana, Koch, Johannes, Kraenzlin, Marius, Lahiri, Nayana, Lozic, Bernarda, Manzur, Adnan Y, Morton, Jenny E V, Pilch, Jacek, Pollitt, Rebecca C, Schreiber, Gudrun, Shannon, Nora L, Sobey, Glenda, Vandersteen, Anthony, van Dijk, Fleur S, Witsch-Baumgartner, Martina, Zschocke, Johannes, Pope, F Michael, Bönnemann, Carsten G, Rohrbach, Marianne
Publicado 2018

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

por Kapferer-Seebacher, Ines, Pepin, Melanie, Werner, Roland, Aitman, Timothy J., Nordgren, Ann, Stoiber, Heribert, Thielens, Nicole, Gaboriaud, Christine, Amberger, Albert, Schossig, Anna, Gruber, Robert, Giunta, Cecilia, Bamshad, Michael, Björck, Erik, Chen, Christina, Chitayat, David, Dorschner, Michael, Schmitt-Egenolf, Marcus, Hale, Christopher J., Hanna, David, Hennies, Hans Christian, Heiss-Kisielewsky, Irene, Lindstrand, Anna, Lundberg, Pernilla, Mitchell, Anna L., Nickerson, Deborah A., Reinstein, Eyal, Rohrbach, Marianne, Romani, Nikolaus, Schmuth, Matthias, Silver, Rachel, Taylan, Fulya, Vandersteen, Anthony, Vandrovcova, Jana, Weerakkody, Ruwan, Yang, Margaret, Pope, F. Michael, Byers, Peter H., Zschocke, Johannes
Publicado 2016