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Cecilia Giunta
Cecilia Giunta
PhD, Connective Tissue Unit, Division of metabolism and Children's Research Center, University
Bestätigte E-Mail-Adresse bei kispi.uzh.ch - Startseite
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Zitiert von
Zitiert von
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The 2017 international classification of the Ehlers–Danlos syndromes
F Malfait, C Francomano, P Byers, J Belmont, B Berglund, J Black, ...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2017
16062017
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta
J Becker, O Semler, C Gilissen, Y Li, HJ Bolz, C Giunta, C Bergmann, ...
The American Journal of Human Genetics 88 (3), 362-371, 2011
4072011
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta
V Martínez‐Glez, M Valencia, JA Caparrós‐Martín, M Aglan, S Temtamy, ...
Human mutation 33 (2), 343-350, 2012
2412012
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome—an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13
C Giunta, NH Elçioglu, B Albrecht, G Eich, C Chambaz, AR Janecke, ...
The American Journal of Human Genetics 82 (6), 1290-1305, 2008
2352008
The Ehlers–Danlos syndromes, rare types
AF Brady, S Demirdas, S Fournel‐Gigleux, N Ghali, C Giunta, ...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2017
2162017
The ehlers–danlos syndromes
F Malfait, M Castori, CA Francomano, C Giunta, T Kosho, PH Byers
Nature Reviews Disease Primers 6 (1), 64, 2020
1862020
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
M Baumann, C Giunta, B Krabichler, F Rüschendorf, N Zoppi, M Colombi, ...
The American Journal of Human Genetics 90 (2), 201-216, 2012
1652012
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS
RJ Wenstrup, JB Florer, MC Willing, C Giunta, B Steinmann, F Young, ...
The American Journal of Human Genetics 66 (6), 1766-1776, 2000
1462000
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta
U Lindert, WA Cabral, S Ausavarat, S Tongkobpetch, K Ludin, AM Barnes, ...
Nature communications 7 (1), 11920, 2016
1362016
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance
EMMB Wright, HL Spencer, SB Daly, FDC Manson, LAH Zeef, J Urquhart, ...
The American Journal of Human Genetics 88 (6), 767-777, 2011
1272011
Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement
I Kapferer-Seebacher, M Pepin, R Werner, TJ Aitman, A Nordgren, ...
The American Journal of Human Genetics 99 (5), 1005-1014, 2016
1212016
Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers–Danlos syndrome
J Jeong, JM Walker, F Wang, JG Park, AE Palmer, C Giunta, M Rohrbach, ...
Proceedings of the National Academy of Sciences 109 (51), E3530-E3538, 2012
1182012
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation
M Rohrbach, A Vandersteen, U Yiş, G Serdaroglu, E Ataman, M Chopra, ...
Orphanet journal of rare diseases 6, 1-9, 2011
1102011
Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI): report on 23 patients and review of the literature
H Al‐Hussain, SM Zeisberger, PR Huber, C Giunta, B Steinmann
American Journal of Medical Genetics Part A 124 (1), 28-34, 2004
1002004
Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci
KP Burdon, DJ Coster, JC Charlesworth, RA Mills, KJ Laurie, C Giunta, ...
Human genetics 124, 379-386, 2008
962008
Ehlers-Danlos syndrome type VII: clinical features and molecular defects
C Giunta, A Superti-Furga, S Spranger, WG Cole, B Steinmann
JBJS 81 (2), 225-238, 1999
961999
Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings
M Rohrbach, C Giunta
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2012
772012
Insights into severe 5, 10‐methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients
P Burda, A Schäfer, T Suormala, T Rummel, C Bürer, D Heuberger, ...
Human mutation 36 (6), 611-621, 2015
752015
Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA)
C Giunta, A Randolph, B Steinmann
Molecular genetics and metabolism 86 (1-2), 269-276, 2005
752005
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers–Danlos syndrome (EDS VIA)
C Giunta, A Randolph, LI Al‐Gazali, HG Brunner, ME Kraenzlin, ...
American Journal of Medical Genetics Part A 133 (2), 158-164, 2005
732005
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