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Number of items: 13.

Martinelli, D; Häberle, J; Rubio, V; Giunta, C; Hausser, I; Carrozzo, R; Gougeard, N; Marco-Marín, C; Goffredo, B M; Meschini, M C; Bevivino, E; Boenzi, S; Colafati, G S; Brancati, F; Baumgartner, M R; Dionisi-Vici, C (2012). Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. Journal of Inherited Metabolic Disease, 35(5):761-776.

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; Madden, C; Dodds, A; Chandler, K E; Banka, S; Au, L; Clayton-Smith, J; Khan, N; Biesecker, L G; Wilson, M; Rohrbach, M; Colombi, M; Giunta, C; Black, G C M (2011). Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. American Journal of Human Genetics, 88(6):767-777.

Rohrbach, M; Vandersteen, A; Yiş, U; Serdaroglu, G; Ataman, E; Chopra, M; Garcia, S; Jones, K; Kariminejad, A; Kraenzlin, M; Marcelis, C; Baumgartner, M; Giunta, C (2011). Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. Orphanet Journal of Rare Diseases, 6:46.

Becker, Jutta; Semler, O; Gilissen, C; Li, Y; Bolz, H J; Giunta, C; Bergmann, C; Rohrbach, M; Koerber, F; Zimmermann, K; de Vries, P; Wirth, B; Schoenau, E; Wollnik, B; Veltman, J A; Hoischen, A; Netzer, C (2011). Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. American Journal of Human Genetics, 88(3):362-371.

Kretz, R; Bozorgmehr, B; Kariminejad, M H; Rohrbach, M; Hausser, I; Baumer, A; Baumgartner, M; Giunta, C; Kariminejad, A; Häberle, J (2011). Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities. Journal of Inherited Metabolic Disease, 34(3):731-739.

Kariminejad, A; Bozorgmehr, B; Khatami, A R; Kariminejad, M H; Giunta, C; Steinmann, B (2010). Ehlers-Danlos syndrome type VI in a 17-year-old Iranian boy with severe muscular weakness – a diagnostic challenge? Iranian Journal of Pediatrics, 20(3):358-362.

Meienberg, J; Rohrbach, M; Neuenschwander, S; Spanaus, K; Giunta, C; Alonso, S; Arnold, E; Henggeler, C; Regenass, S; Patrignani, A; Azzarello-Burri, S; Steiner, B; Nygren, A; Carrel, T; Steinmann, B; Matyas, G (2010). Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. European Journal of Human Genetics, 18(12):1315-1321.

Pessione, E; Pessione, A; Lamberti, C; Coïsson, D J; Riedel, K; Mazzoli, R; Bonetta, S; Eberl, L; Giunta, C (2009). First evidence of a membrane-bound, tyramine and beta-phenylethylamine producing, tyrosine decarboxylase in Enterococcus faecalis: a two-dimensional electrophoresis proteomic study. Proteomics, 9(10):2695-710.

Giunta, C; Bürer-Chambaz, C; Steinmann, B (2009). Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic type. Human Genetics, 125(3):346.

Kraenzlin, M E; Kraenzlin, C A; Meier, C; Giunta, C; Steinmann, B (2008). Automated HPLC assay for urinary collagen cross-links: effect of age, menopause, and metabolic bone diseases. Clinical Chemistry, 54(9):1546-1553.

Giunta, C; Elçioglu, N H; Albrecht, B; Eich, G; Chambaz, C; Janecke, A R; Yeowell, H; Weiss, M; Eyre, D R; Kraenzlin, M; Steinmann, B (2008). Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome - an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. American Journal of Human Genetics, 82(6):1290-1305.

Giunta, C; Chambaz, C; Pedemonte, M; Scapolan, S; Steinmann, B (2008). The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure. American Journal of Medical Genetics. Part A, 146A(10):1341-1346.

Al-Hussain, H; Zeisberger, S M; Huber, P R; Giunta, C; Steinmann, B (2004). 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. American Journal of Medical Genetics. Part A, 124A(1):28-34.

This list was generated on Mon Sep 16 22:57:09 2019 CEST.