Giunta, Cecilia

The 2017 international classification of the Ehlers–Danlos syndromes

Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., et al. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 1,936

Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

Giunta, C., Elçioglu, N. H., Albrecht, B., Eich, G., Chambaz, C., Janecke, A. R., Yeowell, H., Weis, M., Eyre, D. R., Kraenzlin, M., et al. (2008) · The American Journal of Human Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 218

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

Baumann, M., Giunta, C., Krabichler, B., Rüschendorf, F., Zoppi, N., Colombi, M., Bittner, R. E., Quijano-Roy, S., Muntoni, F., Cirak, S., et al. (2012) · The American Journal of Human Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 162

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

Burkitt Wright, E. M. M., Spencer, H. L., Daly, S. B., Manson, F. D. C., Zeef, L. A. H., Urquhart, J., Zoppi, N., Bonshek, R., Tosounidis, I., Mohan, M., et al. (2011) · The American Journal of Human Genetics

Corneal surgery and disordersConnective tissue disorders research

Cited by 135

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

Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., et al. (2016) · The American Journal of Human Genetics

Complement system in diseasesOral microbiology and periodontitis research

Cited by 123

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

Rohrbach, M., Vandersteen, A., Yiş, U., Serdaroglu, G., Ataman, E., Chopra, M., Garcia, S., Jones, K., Kariminejad, A., Kraenzlin, M., et al. (2011) · Orphanet Journal of Rare Diseases

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 106

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

Rohrbach, M., Spencer, H. L., Porter, L. F., Burkitt-Wright, E. M. M., Bürer, C., Janecke, A., Bakshi, M., Sillence, D., Al-Hussain, H., Baumgartner, M., et al. (2013) · Molecular Genetics and Metabolism

Connective tissue disorders researchCorneal surgery and disorders

Cited by 83

Ehlers-Danlos Syndrome Type VII: Clinical Features and Molecular Defects*

GIUNTA, C., SUPERTI-FURGA, A., SPRANGER, S., COLE, W. G., & STEINMANN, B. (1999) · The Journal of Bone & Joint Surgery

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 77

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

Janecke, A. R., Li, B., Boehm, M., Krabichler, B., Rohrbach, M., Müller, T., Fuchs, I., Golas, G., Katagiri, Y., Ziegler, S. G., et al. (2016) · American Journal of Medical Genetics Part A

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 66

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

Van Damme, T., Colige, A., Syx, D., Giunta, C., Lindert, U., Rohrbach, M., Aryani, O., Alanay, Y., Simsek-Kiper, P. Ö., Kroes, H. Y., et al. (2016) · Genetics in Medicine

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 51

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

Gaisl, T., Giunta, C., Bratton, D. J., Sutherland, K., Schlatzer, C., Sievi, N., Franzen, D., Cistulli, P. A., Rohrbach, M., & Kohler, M. (2017) · Thorax

Obstructive Sleep Apnea ResearchSleep and related disorders

Cited by 47

Defect in proline synthesis: pyrroline‐5‐carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities

Kretz, R., Bozorgmehr, B., Kariminejad, M. H., Rohrbach, M., Hausser, I., Baumer, A., Baumgartner, M., Giunta, C., Kariminejad, A., & Häberle, J. (2011) · Journal of Inherited Metabolic Disease

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 34

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

Lim, P. J., Lindert, U., Opitz, L., Hausser, I., Rohrbach, M., & Giunta, C. (2019) · Genes

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 25