7 results on '"Fabian, Julia"'
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2. Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations
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Fabian, Julia, primary, Dworschak, Gabriel C., additional, Waffenschmidt, Lea, additional, Schierbaum, Luca, additional, Bendixen, Charlotte, additional, Heilmann-Heimbach, Stefanie, additional, Sivalingam, Sugirthan, additional, Buness, Andreas, additional, Schwarzer, Nicole, additional, Boemers, Thomas M., additional, Schmiedeke, Eberhard, additional, Neser, Jörg, additional, Leonhardt, Johannes, additional, Kosch, Ferdinand, additional, Weih, Sandra, additional, Gielen, Helen Maya, additional, Hosie, Stuart, additional, Kabs, Carmen, additional, Palta, Markus, additional, Märzheuser, Stefanie, additional, Bode, Lena Marie, additional, Lacher, Martin, additional, Schäfer, Frank-Mattias, additional, Stehr, Maximilian, additional, Knorr, Christian, additional, Ure, Benno, additional, Kleine, Katharina, additional, Rolle, Udo, additional, Zaniew, Marcin, additional, Phillip, Grote, additional, Zwink, Nadine, additional, Jenetzky, Ekkehart, additional, Reutter, Heiko, additional, and Hilger, Alina C., additional
- Published
- 2022
- Full Text
- View/download PDF
3. Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO)
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Schierbaum, Luca M., primary, Schneider, Sophia, additional, Herms, Stefan, additional, Sivalingam, Sugirthan, additional, Fabian, Julia, additional, Reutter, Heiko, additional, Weber, Stefanie, additional, Merz, Waltraut M., additional, Tkaczyk, Marcin, additional, Miklaszewska, Monika, additional, Sikora, Przemyslaw, additional, Szmigielska, Agnieszka, additional, Krzemien, Grazyna, additional, Zachwieja, Katarzyna, additional, Szczepanska, Maria, additional, Taranta-Janusz, Katarzyna, additional, Kroll, Pawel, additional, Polok, Marcin, additional, Zaniew, Marcin, additional, and Hilger, Alina C., additional
- Published
- 2021
- Full Text
- View/download PDF
4. Human exome and mouse embryonic expression data implicateZFHX3,TRPS1, andCHD7in human esophageal atresia
- Author
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Zhang, Rong, Gehlen, Jan, Kawalia, Amit, Melissari, Maria-Theodora, Dakal, Tikam Chand, Menon, Athira M., Hoefele, Julia, Riedhammer, Korbinian, Waffenschmidt, Lea, Fabian, Julia, Breuer, Katinka, Kalanithy, Jeshurun, Hilger, Alina Christine, Sharma, Amit, Hoelscher, Alice, Boemers, Thomas M., Pauly, Markus, Leutner, Andreas, Fuchs, Joerg, Seitz, Guido, Ludwikowski, Barbara M., Gomez, Barbara, Hubertus, Jochen, Heydweiller, Andreas, Kurz, Ralf, Leonhardt, Johannes, Kosch, Ferdinand, Holland-Cunz, Stefan, Muensterer, Oliver, Ure, Beno, Schmiedeke, Eberhard, Neser, Joerg, Degenhardt, Petra, Maerzheuser, Stefanie, Kleine, Katharina, Schaefer, Mattias, Spychalski, Nicole, Deffaa, Oliver J., Gosemann, Jan-Hendrik, Lacher, Martin, Heilmann-Heimbach, Stefanie, Zwink, Nadine, Jenetzky, Ekkehart, Ludwig, Michael, Grote, Phillip, Schumacher, Johannes, Thiele, Holger, Reutter, Heiko, Zhang, Rong, Gehlen, Jan, Kawalia, Amit, Melissari, Maria-Theodora, Dakal, Tikam Chand, Menon, Athira M., Hoefele, Julia, Riedhammer, Korbinian, Waffenschmidt, Lea, Fabian, Julia, Breuer, Katinka, Kalanithy, Jeshurun, Hilger, Alina Christine, Sharma, Amit, Hoelscher, Alice, Boemers, Thomas M., Pauly, Markus, Leutner, Andreas, Fuchs, Joerg, Seitz, Guido, Ludwikowski, Barbara M., Gomez, Barbara, Hubertus, Jochen, Heydweiller, Andreas, Kurz, Ralf, Leonhardt, Johannes, Kosch, Ferdinand, Holland-Cunz, Stefan, Muensterer, Oliver, Ure, Beno, Schmiedeke, Eberhard, Neser, Joerg, Degenhardt, Petra, Maerzheuser, Stefanie, Kleine, Katharina, Schaefer, Mattias, Spychalski, Nicole, Deffaa, Oliver J., Gosemann, Jan-Hendrik, Lacher, Martin, Heilmann-Heimbach, Stefanie, Zwink, Nadine, Jenetzky, Ekkehart, Ludwig, Michael, Grote, Phillip, Schumacher, Johannes, Thiele, Holger, and Reutter, Heiko
- Abstract
Introduction Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) occurs approximately 1 in 3.500 live births representing the most common malformation of the upper digestive tract. Only half a century ago, EA/TEF was fatal among affected newborns suggesting that the steady birth prevalence might in parts be due to mutationalde novoevents in genes involved in foregut development. Methods To identify mutationalde novoevents in EA/TEF patients, we surveyed the exome of 30 case-parent trios. Identified and confirmedde novovariants were prioritized usingin silicoprediction tools. To investigate the embryonic role of genes harboring prioritizedde novovariants we performed targeted analysis of mouse transcriptome data of esophageal tissue obtained at the embryonic day (E) E8.5, E12.5, and postnatal. Results In total we prioritized 14 novelde novovariants in 14 different genes (APOL2,EEF1D,CHD7,FANCB,GGT6,KIAA0556,NFX1,NPR2,PIGC,SLC5A2,TANC2,TRPS1,UBA3, andZFHX3) and eight rarede novovariants in eight additional genes (CELSR1,CLP1,GPR133,HPS3,MTA3,PLEC,STAB1, andPPIP5K2). Through personal communication during the project, we identified an additional EA/TEF case-parent trio with a rarede novovariant inZFHX3.In silicoprediction analysis of the identified variants and comparative analysis of mouse transcriptome data of esophageal tissue obtained at E8.5, E12.5, and postnatal prioritizedCHD7,TRPS1, andZFHX3as EA/TEF candidate genes. Re-sequencing ofZFHX3in additional 192 EA/TEF patients did not identify further putative EA/TEF-associated variants. Conclusion Our study suggests that rare mutationalde novoevents in genes involved in foregut development contribute to the development of EA/TEF.
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- 2020
5. Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia
- Author
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Pastor Santos-Cortez, Regie Lyn, Zhang, Rong, Gehlen, Jan, Kawalia, Amit, Melissari, Maria-Theodora, Dakal, Tikam Chand, Menon, Athira M., Höfele, Julia, Riedhammer, Korbinian, Waffenschmidt, Lea, Fabian, Julia, Breuer, Katinka, Kalanithy, Jeshurun, Hilger, Alina Christine, Sharma, Amit, Hölscher, Alice, Boemers, Thomas M., Pauly, Markus, Leutner, Andreas, Fuchs, Jörg, Seitz, Guido, Ludwikowski, Barbara, Gomez, Barbara, Hubertus, Jochen, Heydweiller, Andreas, Kurz, Ralf, Leonhardt, Johannes, Kosch, Ferdinand, Holland-Cunz, Stefan, Münsterer, Oliver, Ure, Beno, Schmiedeke, Eberhard, Neser, Jörg, Degenhardt, Petra, Märzheuser, Stefanie, Kleine, Katharina, Schäfer, Mattias, Spychalski, Nicole, Deffaa, Oliver J., Gosemann, Jan-Hendrik, Lacher, Martin, Heilmann-Heimbach, Stefanie, Zwink, Nadine, Jenetzky, Ekkehart, Ludwig, Michael, Grote, Phillip, Schumacher, Johannes, Thiele, Holger, Reutter, Heiko, Pastor Santos-Cortez, Regie Lyn, Zhang, Rong, Gehlen, Jan, Kawalia, Amit, Melissari, Maria-Theodora, Dakal, Tikam Chand, Menon, Athira M., Höfele, Julia, Riedhammer, Korbinian, Waffenschmidt, Lea, Fabian, Julia, Breuer, Katinka, Kalanithy, Jeshurun, Hilger, Alina Christine, Sharma, Amit, Hölscher, Alice, Boemers, Thomas M., Pauly, Markus, Leutner, Andreas, Fuchs, Jörg, Seitz, Guido, Ludwikowski, Barbara, Gomez, Barbara, Hubertus, Jochen, Heydweiller, Andreas, Kurz, Ralf, Leonhardt, Johannes, Kosch, Ferdinand, Holland-Cunz, Stefan, Münsterer, Oliver, Ure, Beno, Schmiedeke, Eberhard, Neser, Jörg, Degenhardt, Petra, Märzheuser, Stefanie, Kleine, Katharina, Schäfer, Mattias, Spychalski, Nicole, Deffaa, Oliver J., Gosemann, Jan-Hendrik, Lacher, Martin, Heilmann-Heimbach, Stefanie, Zwink, Nadine, Jenetzky, Ekkehart, Ludwig, Michael, Grote, Phillip, Schumacher, Johannes, Thiele, Holger, and Reutter, Heiko
- Abstract
Introduction: Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) occurs approximately 1 in 3.500 live births representing the most common malformation of the upper digestive tract. Only half a century ago, EA/TEF was fatal among affected newborns suggesting that the steady birth prevalence might in parts be due to mutational de novo events in genes involved in foregut development. Methods: To identify mutational de novo events in EA/TEF patients, we surveyed the exome of 30 case-parent trios. Identified and confirmed de novo variants were prioritized using in silico prediction tools. To investigate the embryonic role of genes harboring prioritized de novo variants we performed targeted analysis of mouse transcriptome data of esophageal tissue obtained at the embryonic day (E) E8.5, E12.5, and postnatal. Results: In total we prioritized 14 novel de novo variants in 14 different genes (APOL2, EEF1D, CHD7, FANCB, GGT6, KIAA0556, NFX1, NPR2, PIGC, SLC5A2, TANC2, TRPS1, UBA3, and ZFHX3) and eight rare de novo variants in eight additional genes (CELSR1, CLP1, GPR133, HPS3, MTA3, PLEC, STAB1, and PPIP5K2). Through personal communication during the project, we identified an additional EA/TEF case-parent trio with a rare de novo variant in ZFHX3. In silico prediction analysis of the identified variants and comparative analysis of mouse transcriptome data of esophageal tissue obtained at E8.5, E12.5, and postnatal prioritized CHD7, TRPS1, and ZFHX3 as EA/TEF candidate genes. Re-sequencing of ZFHX3 in additional 192 EA/TEF patients did not identify further putative EA/TEF-associated variants. Conclusion: Our study suggests that rare mutational de novo events in genes involved in foregut development contribute to the development of EA/TEF.
- Published
- 2020
6. Age-dependent impact of the SYNTAX-score on longer-term mortality after percutaneous coronary intervention in an all-comer population
- Author
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Eickhoff, Madeleine, Schüpke, Stefanie, Khandoga, Alexander, Fabian, Julia, Baquet, Moritz, Jochheim, David, Grundmann, David, Thienel, Manuela, Bauer, Axel, Theiss, Hans, Brunner, Stefan, Hausleiter, Jörg, Massberg, Steffen, and Mehilli, Julinda
- Subjects
Age ,The elderly ,Mortality ,humanities ,Syntax-score ,Research Article ,Percutaneous coronary intervention - Abstract
Background The Synergy between Percutaneous Coronary Intervention with TAXUS and Cardiac Surgery (SYNTAX)-score is a validated tool for risk stratification and revascularization strategy selection in patients with complex coronary artery disease. The aim of this study was to analyse its age-related prognostic value. Methods SYNTAX-score was calculated in 1331 all-comer patients undergoing percutaneous coronary intervention (PCI): 463 patients ≥ 75 years and 868 patients < 75 years. Outcomes of interest were all-cause mortality at one and two years. Results A significant interaction of age and SYNTAX-score for mortality was observed at two-year (Pinteraction = 0.019) but not at one-year follow-up (Pinteraction = 0.594). In multivariable analysis, SYNTAX-score independently predicted 1-year mortality in both age groups (< 75 years, hazard ratio (HR): 1.43, 95% confidence intervals (CI): 1.03–2.00, P = 0.034; and ≥ 75 years, HR: 1.37, 95% CI: 1.01–1.85, P = 0.042), but only two-year mortality among younger patients (< 75 years, HR: 1.33, 95% CI: 1.01–1.76, P = 0.041; and ≥ 75 years, HR: 1.11, 95% CI: 0.87–1.41, P = 0.394). SYNTAX-score tertiles were useful to stratify 1-year mortality in both, patients < 75 years (SYNTAX-score < 9, 3.8%; 9–20, 5.3%; ≥ 20, 10.3%; P = 0.004) and ≥ 75 years (SYNTAX-score < 11, 5.7%; 11–22.5, 16.1%; ≥ 22.5, 18.7%; P = 0.003), but two-year mortality only among patients < 75 years (SYNTAX-score < 9, 6.5%; 9–20, 7.6%; ≥ 20, 15%; P < 0.001) and not among ≥ 75 years old patients (SYNTAX-score < 11, 19.4%; 11–22.5, 26.3%; ≥ 22.5, 27.9%; P = 0.138). Conclusions Age modifies the impact of the SYNTAX-score on longer-term mortality after PCI. Among patients < 75 years, the SYNTAX-score independently predicts the risk of death at one and two years after PCI, while among patients ≥ 75 years its predictive role is limited to the first year after PCI. Further studies are needed to evaluate the value of SYNTAX-score for selecting the most appropriate revascularization strategy among elderly patients.
- Published
- 2018
7. Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia
- Author
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Zhang, Rong, primary, Gehlen, Jan, additional, Kawalia, Amit, additional, Melissari, Maria-Theodora, additional, Dakal, Tikam Chand, additional, Menon, Athira M., additional, Höfele, Julia, additional, Riedhammer, Korbinian, additional, Waffenschmidt, Lea, additional, Fabian, Julia, additional, Breuer, Katinka, additional, Kalanithy, Jeshurun, additional, Hilger, Alina Christine, additional, Sharma, Amit, additional, Hölscher, Alice, additional, Boemers, Thomas M., additional, Pauly, Markus, additional, Leutner, Andreas, additional, Fuchs, Jörg, additional, Seitz, Guido, additional, Ludwikowski, Barbara M., additional, Gomez, Barbara, additional, Hubertus, Jochen, additional, Heydweiller, Andreas, additional, Kurz, Ralf, additional, Leonhardt, Johannes, additional, Kosch, Ferdinand, additional, Holland-Cunz, Stefan, additional, Münsterer, Oliver, additional, Ure, Beno, additional, Schmiedeke, Eberhard, additional, Neser, Jörg, additional, Degenhardt, Petra, additional, Märzheuser, Stefanie, additional, Kleine, Katharina, additional, Schäfer, Mattias, additional, Spychalski, Nicole, additional, Deffaa, Oliver J., additional, Gosemann, Jan-Hendrik, additional, Lacher, Martin, additional, Heilmann-Heimbach, Stefanie, additional, Zwink, Nadine, additional, Jenetzky, Ekkehart, additional, Ludwig, Michael, additional, Grote, Phillip, additional, Schumacher, Johannes, additional, Thiele, Holger, additional, and Reutter, Heiko, additional
- Published
- 2020
- Full Text
- View/download PDF
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