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Academic Journal

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

Subjects: Medical Clinic; 610 Medicine & health

  • Source: Lim, Pei Jin; Marcionelli, Giulio; Srikanthan, Pakeerathan; Ndarugendamwo, Timothée; Pinner, Jason; Rohrbach, Marianne; Giunta, Cecilia (2023). Perturbations in fatty acid metabolism and collagen

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Academic Journal

Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta-analysis

Subjects: Medical Clinic; Institute of Psychology; 150 Psychology

  • Source: Wehrli, Susanne; Rohrbach, Marianne; Landolt, Markus A (2023). Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta-analysis. Orphanet

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Academic Journal

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

Subjects: Functional Genomics Center Zurich; Medical Clinic; 570 Life sciences

  • Source: Lim, Pei Jin; Marfurt, Severin; Lindert, Uschi; Opitz, Lennart; Ndarugendamwo, Timothée; Srikanthan, Pakeerathan; Poms, Martin; Hersberger, Martin; Langhans, Claus-Dieter; Haas, Dorothea; Rohrbach,

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Academic Journal

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

Subjects: Medical Clinic; 610 Medicine & health

  • Source: Moosa, Shahida; Yamamoto, Guilherme L; Garbes, Lutz; et al; Giunta, Cecilia; Rohrbach, Marianne; Janner, Marco (2019). Autosomal-Recessive Mutations in MESD Cause

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Academic Journal

Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta

Subjects: Medical Clinic; 610 Medicine & health

  • Source: 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

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Academic Journal

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

Subjects: Medical Clinic; 610 Medicine & health

  • Source: Lindert, Uschi; Cabral, Wayne A; Ausavarat, Surasawadee; Tongkobpetch, Siraprapa; Ludin, Katja; Barnes, Aileen M; Yeetong, Patra; Weis, Maryann; Krabichler, Birgit; Srichomthong, Chalurmpon;

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Academic Journal

Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta

Subjects: Medical Clinic; 610 Medicine & health

  • Source: Lindert, Uschi; Kraenzlin, Marius; Campos-Xavier, Ana Belinda; Baumgartner, Matthias R; Bonafé, Luisa; Giunta, Cecilia; Rohrbach, Marianne (2015). Urinary pyridinoline cross-links as biomarkers of

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Academic Journal

Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta.

Subjects: Medical Clinic; 610 Medicine & health

  • Source: Lindert, Uschi; Weis, Mary Ann; Rai, Jyoti; Seeliger, Frank; Hausser, Ingrid; Leeb, Tosso; Eyre, David; Rohrbach, Marianne; Giunta, Cecilia (2015). Molecular Consequences of the SERPINH1/HSP47

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Academic Journal

Heterochrony and developmental modularity of cranial osteogenesis in lipotyphlan mammals

Subjects: Department of Paleontology; Department of Evolutionary Anthropology; 300 Social sciences

  • Source: Koyabu, D; Endo, H; Mitgutsch, C; Suwa, G; Catania, K C; Zollikofer, C P E; Oda, Sen-ichi; Koyasu, K; Ando, M; Sánchez-Villagra, M R (2011). Heterochrony and developmental modularity of cranial

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Academic Journal

A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta

Subjects: Department of Clinical Diagnostics and Services; 570 Life sciences; biology

  • Source: Drögemüller, Cord; Becker, Doreen; Brunner, Adrian; Haase, Bianca; Kircher, Patrick R; Seeliger, Frank; Fehr, Michael; Baumann, Ulrich; Lindblad-Toh, Kerstin; Leeb, Tosso (2009). A missense mutation

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  • 1-10 of  39 results for ""Osteogenesis""