Search Results - "Groebner, Rebekka"

High risk of peri‐implant disease in periodontal Ehlers–Danlos Syndrome. A case series by Rinner, Alexander, Zschocke, Johannes, Schossig, Anna, Gröbner, Rebekka, Strobl, Heinrich, Kapferer‐Seebacher, Ines

“…Objectives Periodontal Ehlers–Danlos syndrome (pEDS) has recently been delineated as a molecularly defined cause of early severe periodontitis. Here we report…”
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Oral characteristics in adult individuals with periodontal Ehlers‐Danlos syndrome by Lepperdinger, Ulrike, Angwin, Chloe, Milnes, Di, Sobey, Glenda, Ghali, Neeti, Johnson, Diana, Brady, Angela F., Kammin, Tammy, Bowen, Jessica M., Gröbner, Rebekka, Lundberg, Pernilla, Scott, James, Zschocke, Johannes, Dijk, Fleur S., Kapferer‐Seebacher, Ines

“…Aim Periodontal Ehlers‐Danlos syndrome (pEDS) is a monogenic type of Ehlers‐Danlos syndrome characterized by periodontal destruction at a young age. The…”
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Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy by Kapferer-Seebacher, Ines, Waisfisz, Quinten, Boesch, Sylvia, Bronk, Marieke, van Tintelen, Peter, Gizewski, Elke R., Groebner, Rebekka, Zschocke, Johannes, van der Knaap, Marjo S.

“…Here, we report brain white matter alterations in individuals clinically and genetically diagnosed with periodontal Ehlers–Danlos syndrome, a rare disease…”
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C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome by Gröbner, Rebekka, Kapferer-Seebacher, Ines, Amberger, Albert, Redolfi, Rita, Dalonneau, Fabien, Björck, Erik, Milnes, Di, Bally, Isabelle, Rossi, Veronique, Thielens, Nicole, Stoiber, Heribert, Gaboriaud, Christine, Zschocke, Johannes

“…Heterozygous missense or in-frame insertion/deletion mutations in complement 1 subunits C1r and C1s cause periodontal Ehlers-Danlos Syndrome (pEDS), a specific…”
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Two Different Missense C1S Mutations, Associated to Periodontal Ehlers-Danlos Syndrome, Lead to Identical Molecular Outcomes by Bally, Isabelle, Dalonneau, Fabien, Chouquet, Anne, Gröbner, Rebekka, Amberger, Albert, Kapferer-Seebacher, Ines, Stoiber, Heribert, Zschocke, Johannes, Thielens, Nicole M, Rossi, Véronique, Gaboriaud, Christine

“…Ehlers-Danlos syndromes (EDS) are clinically and genetically heterogeneous disorders characterized by soft connective tissue alteration like joint…”
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Array genotyping as diagnostic approach in medical genetics by Witsch‐Baumgartner, Martina, Schwaninger, Gunda, Schnaiter, Simon, Kollmann, Franziska, Burkhard, Silja, Gröbner, Rebekka, Mühlegger, Beatrix, Schamschula, Esther, Kirchmeier, Peter, Zschocke, Johannes

“…Genotyping arrays are by far the most widely used genetic tests but are not generally utilized for diagnostic purposes in a medical context. In the present…”
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