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Lindert, Uschi; Gnoli, M; Maioli, M; Bedeschi, M F; Sangiorgi, L; Rohrbach, M; Giunta, Cecilia (2018). Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta. Calcified tissue international, 102(3):373-379.

Mueller, P; Attenhofer Jost, C H; Rohrbach, M; et al (2014). Cardiac disease in children and young adults with various lysosomal storage diseases: Comparison of echocardiographic and ECG changes among clinical groups. International Journal of Cardiology. Heart & Vessels, 2:1-7.

Zimmermann, M; Jacobs, P; Fingerhut, R; Torresani, T; Thöny, B; Blau, N; Baumgartner, M R; Rohrbach, M (2012). Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis. Molecular Genetics and Metabolism, 106(3):264-268.

Le Goff, C; Mahaut, C; Wang, L W; Allali, S; Abhyankar, A; Jensen, S; Zylberberg, L; Collod-Beroud, G; Bonnet, D; Alanay, Y; Brady, A F; Cordier, M P; Devriendt, K; Genevieve, D; Kiper, P Ö S; Kitoh, H; Krakow, D; Lynch, S A; Le Merrer, M; Mégarbane, A; Mortier, G; Odent, S; Polak, M; Rohrbach, M; Sillence, D; Stolte-Dijkstra, I; Superti-Furga, A; Rimoin, D L; Topouchian, V; Unger, S; Zabel, B; Bole-Feysot, C; Nitschke, P; Handford, P; Casanova, J L; Boileau, C; Apte, S S; Munnich, A; Cormier-Daire, V (2011). Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. American Journal of Human Genetics, 89(1):7-14.

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.

Rohrbach, M; Klein, A; Köhli-Wiesner, A; Veraguth, D; Scheer, I; Balmer, C; Lauener, R; Baumgartner, M R (2010). CRIM-negative infantile Pompe disease: 42-month treatment outcome. Journal of Inherited Metabolic Disease, 33(6):751-757.

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.

Fingerhut, R; De Jesus Silva Arevalo, G; Baumgartner, M R; Häberle, J; Rohrbach, M; Figueroa, A W; Fresse, E M; Polanco, O L; Torresani, T (2010). Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples. Journal of Inherited Metabolic Disease, 33(Sup 2):S235-S239.

Pineda, M; Wraith, J E; Mengel, E; Sedel, F; Hwu, W L; Rohrbach, M; Bembi, B; Walterfang, M; Korenke, G C; Marquardt, T; Luzy, C; Giorgino, R; Patterson, M C (2009). Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study. Molecular Genetics and Metabolism, 98(3):243-249.

Wraith, J E; Guffon, N; Rohrbach, M; Hwu, W L; Korenke, G C; Bembi, B; Luzy, C; Giorgino, R; Sedel, F (2009). Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study. Molecular Genetics and Metabolism, 98(3):250-254.

Rohrbach, M; Chitayat, D; Maegawa, G; Shanske, S; Davidzon, G; Chong, K; Clarke, J T R; Toi, A; Tarnopolsky, M; Robinson, B; Blaser, S (2009). Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence. Fetal Diagnosis and Therapy, 25(2):177-182.

This list was generated on Mon Apr 22 06:19:39 2019 CEST.