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16 results on '"Christ, Stine"'

1. Vernetzte Versorgung – heute und in 10 Jahren

Author

Vogel, Tim, Albertowski, Anne Sophie, Bienenstein, Evelyn, Christ, Stine, Brennenstuhl, Heiko, Ferger, Marc D., Karara, Nora, Kerth, Janna-Lina, Krey, Ilona, Meyer, Robert, Michaelis, Anna, Obitz, Jonas, Töpfner, Nicole, Tuncel, Ali Tunç, Winter, Julia, Yoosefi, Mehrak, and Kohlfürst, Daniela S.

Published
2023
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3. „Gemeinsam stark – für eine bessere Kinder- und Jugendmedizin!“

Author

Eckhardt, Iris, Merbecks, Moritz B., Jacobi, Simon F., Lechner, Christian, Becker, Lena-Luise, Balks, Maren Friederike, Scala, Mario, Kampmann, Kristina, Ortner, Georgia R., Schmid, Florian, Hensel, Kai O., Pokora, Roman, Eichinger, Michael, Drossard, Sabine, Brennenstuhl, Heiko, Christ, Stine, Kock, Vanessa, Krey, Ilona, Meyer, Robert, Schulz, Jan, Ferger, Marc D., Nissen, Gyde, Happle, Christine, Kohlfürst, Daniela S., and Jakob, Julian

Published
2021
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4. Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias

Author

Reischl‐Hajiabadi, Anna T., primary, Schnabel, Elena, additional, Gleich, Florian, additional, Mengler, Katharina, additional, Lindner, Martin, additional, Burgard, Peter, additional, Posset, Roland, additional, Lommer‐Steinhoff, Svenja, additional, Grünert, Sarah C., additional, Thimm, Eva, additional, Freisinger, Peter, additional, Hennermann, Julia B., additional, Krämer, Johannes, additional, Gramer, Gwendolyn, additional, Lenz, Dominic, additional, Christ, Stine, additional, Hörster, Friederike, additional, Hoffmann, Georg F., additional, Garbade, Sven F., additional, Kölker, Stefan, additional, and Mütze, Ulrike, additional

Published
2024
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5. Clinical outcomes and survival of individuals with methylmalonic acidemia, propionic acidemia, classic homocystinuria, and remethylation disorders identified through newborn screening

Author

Reischl-Hajiabadi, Anna T, primary, Schnabel, Elena, additional, Gleich, Florian, additional, Mengler, Katharina, additional, Lindner, Martin, additional, Burgard, Peter, additional, Posset, Roland, additional, Lommer-Steinhoff, Svenja, additional, Grunert, Sarah C, additional, Thimm, Eva, additional, Freisinger, Peter, additional, Hennermann, Julia B, additional, Kramer, Johannes, additional, Gramer, Gwendolyn, additional, Lenz, Dominic, additional, Christ, Stine, additional, Horster, Friederike, additional, Hoffmann, Georg F, additional, Garbade, Sven F, additional, Kolker, Stefan, additional, and Mutze, Ulrike, additional

Published
2023
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6. Erratum zu: „Gemeinsam stark – für eine bessere Kinder- und Jugendmedizin!“

Author

Eckhardt, Iris, Merbecks, Moritz B., Jacobi, Simon F., Lechner, Christian, Becker, Lena-Luise, Balks, Maren Friederike, Scala, Mario, Kampmann, Kristina, Ortner, Georgia R., Schmid, Florian, Hensel, Kai O., Pokora, Roman, Eichinger, Michael, Drossard, Sabine, Brennenstuhl, Heiko, Christ, Stine, Kock, Vanessa, Krey, Ilona, Meyer, Robert, Schulz, Jan, Ferger, Marc D., Nissen, Gyde, Happle, Christine, Kohlfürst, Daniela S., and Jakob, Julian

Published
2021
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8. Strong together - for a better Healthcare in Children and Adolescents!

Author

Eckhardt, Iris, Merbecks, Moritz B., Jacobi, Simon F., Lechner, Christian, Becker, Lena-Luise, Balks, Maren Friederike, Scala, Mario, Kampmann, Kristina, Ortner, Georgia R., Schmid, Florian, Hensel, Kai O., Pokora, Roman, Eichinger, Michael, Drossard, Sabine, Brennenstuhl, Heiko, Christ, Stine, Kock, Vanessa, Krey, Ilona, Meyer, Robert, Schulz, Jan, Ferger, Marc D., Nissen, Gyde, Happle, Christine, Kohlfuerst, Daniela S., Jakob, Julian, Eckhardt, Iris, Merbecks, Moritz B., Jacobi, Simon F., Lechner, Christian, Becker, Lena-Luise, Balks, Maren Friederike, Scala, Mario, Kampmann, Kristina, Ortner, Georgia R., Schmid, Florian, Hensel, Kai O., Pokora, Roman, Eichinger, Michael, Drossard, Sabine, Brennenstuhl, Heiko, Christ, Stine, Kock, Vanessa, Krey, Ilona, Meyer, Robert, Schulz, Jan, Ferger, Marc D., Nissen, Gyde, Happle, Christine, Kohlfuerst, Daniela S., and Jakob, Julian

Published
2021

10. Novel pathogenicEIF2S3missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review

Author

Kotzaeridou, Urania, primary, Young‐Baird, Sara K., additional, Suckow, Vanessa, additional, Thornburg, Alexis G., additional, Wagner, Matias, additional, Harting, Inga, additional, Christ, Stine, additional, Strom, Tim, additional, Dever, Thomas E., additional, and Kalscheuer, Vera M., additional

Published
2020
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13. Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

Author

Génin, Emmanuelle, Campion, Dominique, Dartigues, Jean-François, Deleuze, Jean-François, Lambert, Jean-Charles, Redon, Richard, Ludwig, Thomas, Grenier-Boley, Benjamin, Letort, Sébastien, Lindenbaum, Pierre, Meyer, Vincent, Quenez, Olivier, Dina, Christian, Bellenguez, Céline, -Le Clézio, Camille Charbonnier, Giemza, Joanna, Chatel, Stéphanie, Férec, Claude, Le Marec, Hervé, Letenneur, Luc, Nicolas, Gaël, Rouault, Karen, Bacq, Delphine, Boland, Anne, Lechner, Doris, Colin, Estelle, Daniel, Jens, Ziegler, Alban, Wakim, Jamal, Scrivo, Aurora, Haack, Tobias B., Khiati, Salim, Denommé, Anne-Sophie, Amati-Bonneau, Patrizia, Charif, Majida, Procaccio, Vincent, Reynier, Pascal, Aleck, Kyrieckos A., Botto, Lorenzo D., Herper, Claudia Lena, Kaiser, Charlotte Sophia, Nabbout, Rima, N’Guyen, Sylvie, Mora-Lorca, José Antonio, Assmann, Birgit, Christ, Stine, Meitinger, Thomas, Strom, Tim M., Prokisch, Holger, Miranda-Vizuete, Antonio, Hoffmann, Georg F., Lenaers, Guy, Bomont, Pascale, Liebau, Eva, and Bonneau, Dominique

Published
2016
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14. Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review.

Author

Kotzaeridou, Urania, Young‐Baird, Sara K., Suckow, Vanessa, Thornburg, Alexis G., Wagner, Matias, Harting, Inga, Christ, Stine, Strom, Tim, Dever, Thomas E., and Kalscheuer, Vera M.

Subjects
EPILEPSY, FACE, SYNDROMES, INTELLECTUAL disabilities, GENETIC translation
Abstract

Rare pathogenic EIF2S3 missense and terminal deletion variants cause the X‐linked intellectual disability (ID) syndrome MEHMO, or a milder phenotype including pancreatic dysfunction and hypopituitarism. We present two unrelated male patients who carry novel EIF2S3 pathogenic missense variants (p.(Thr144Ile) and p.(Ile159Leu)) thereby broadening the limited genetic spectrum and underscoring clinically variable expressivity of MEHMO. While the affected male with p.(Thr144Ile) presented with severe motor delay, severe microcephaly, moderate ID, epileptic seizures responsive to treatments, hypogenitalism, central obesity, facial features, and diabetes, the affected male with p.(Ile159Leu) presented with moderate ID, mild motor delay, microcephaly, epileptic seizures resistant to treatment, central obesity, and mild facial features. Both variants are located in the highly conserved guanine nucleotide binding domain of the EIF2S3 encoded eIF2γ subunit of the heterotrimeric translation initiation factor 2 (eIF2) complex. Further, we investigated both variants in a structural model and in yeast. The reduced growth rates and lowered fidelity of translation with increased initiation at non‐AUG codons observed for both mutants in these studies strongly support pathogenicity of the variants. [ABSTRACT FROM AUTHOR]

Published
2020
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15. P 520. Unclear Strokes in Pediatrics—Adenosine Deaminase 2 (ADA2) Deficiency as a Therapeutic Relevant Differential Diagnosis to Acquired Inflammatory CNS Diseases

Author

Christ, Stine, additional, Haber, Benjamin, additional, Grulich-Henn, Jürgen, additional, Helling-Bakki, Astrid, additional, Hoffmann, Georg, additional, Lutz, Thomas, additional, Tönshoff, Burkhard, additional, Syrbe, Steffen, additional, Haas, Dorothea, additional, Youssef, Hudda, additional, Eich, Gwendolyn, additional, Hanebeck, Benjamin, additional, and Ziegler, Andreas, additional

Published
2018
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16. Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

Author

Colin, Estelle, primary, Daniel, Jens, additional, Ziegler, Alban, additional, Wakim, Jamal, additional, Scrivo, Aurora, additional, Haack, Tobias B., additional, Khiati, Salim, additional, Denommé, Anne-Sophie, additional, Amati-Bonneau, Patrizia, additional, Charif, Majida, additional, Procaccio, Vincent, additional, Reynier, Pascal, additional, Aleck, Kyrieckos A., additional, Botto, Lorenzo D., additional, Herper, Claudia Lena, additional, Kaiser, Charlotte Sophia, additional, Nabbout, Rima, additional, N’Guyen, Sylvie, additional, Mora-Lorca, José Antonio, additional, Assmann, Birgit, additional, Christ, Stine, additional, Meitinger, Thomas, additional, Strom, Tim M., additional, Prokisch, Holger, additional, Miranda-Vizuete, Antonio, additional, Hoffmann, Georg F., additional, Lenaers, Guy, additional, Bomont, Pascale, additional, Liebau, Eva, additional, Bonneau, Dominique, additional, Génin, Emmanuelle, additional, Campion, Dominique, additional, Dartigues, Jean-François, additional, Deleuze, Jean-François, additional, Lambert, Jean-Charles, additional, Redon, Richard, additional, Ludwig, Thomas, additional, Grenier-Boley, Benjamin, additional, Letort, Sébastien, additional, Lindenbaum, Pierre, additional, Meyer, Vincent, additional, Quenez, Olivier, additional, Dina, Christian, additional, Bellenguez, Céline, additional, -Le Clézio, Camille Charbonnier, additional, Giemza, Joanna, additional, Chatel, Stéphanie, additional, Férec, Claude, additional, Le Marec, Hervé, additional, Letenneur, Luc, additional, Nicolas, Gaël, additional, Rouault, Karen, additional, Bacq, Delphine, additional, Boland, Anne, additional, and Lechner, Doris, additional

Published
2016
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