@article{UBHD-68421047, author={Breil, Thomas and Choukair, Daniela and Mittnacht, Janna and Inta, Ioana and Klose, Daniela and Jesser, Jessica and Bettendorf, Markus}, title={Clinical features and response to treatment of prolactinomas in children and adolescents}, subtitle={a retrospective single-centre analysis and review of the literature}, year={2018}, pages={157-165}, language={eng}, issn={1663-2826}, volume={89}, number={3}, note={Gesehen am 15.08.2019}, journal={Hormone research in paediatrics}, doi={10.1159/000486280}, } @article{UBHD-68394772, author={Breil, Thomas and Yakovenko, Vira and Inta, Ioana and Choukair, Daniela and Klose, Daniela and Mittnacht, Janna and Alrajab, Abdulsattar and Grulich-Henn, J{\"u}rgen and Bettendorf, Markus}, title={Typical characteristics of children with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency}, subtitle={a single-centre experience and review of the literature}, year={2019}, pages={259-267}, language={eng}, issn={2191-0251}, volume={32}, number={3}, note={Gesehen am 03.06.2019}, journal={The journal of pediatric endocrinology and metabolism}, doi={10.1515/jpem-2018-0298}, } @article{UBHD-68286526, author={Choukair, Daniela and Kneppo, Carolin and Feneberg, Reinhard and Lindner, Martin and K{\"o}lker, Stefan and Hoffmann, Georg F. and T{\"o}nshoff, Burkhard}, title={Analysis of the functional muscle-bone unit of the forearm in patients with phenylketonuria by peripheral quantitative computed tomography}, year={2017}, pages={219-226}, language={eng}, issn={1573-2665}, volume={40}, number={2}, note={First online: 22 November 2016 ; Gesehen am 18.07.2018}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-016-0002-6}, } @article{UBHD-68724711, author={Choukair, Daniela and Bettendorf, Markus}, title={Hormonelle Steuerung des Gr{\"o}ßenwachstums}, year={2013}, pages={19-24}, language={ger}, issn={1610-2908}, volume={11}, number={1}, note={Gesehen am 16.04.2021}, journal={Gyn{\"a}kologische Endokrinologie}, doi={10.1007/s10304-012-0497-3}, } @article{UBHD-68630860, author={Choukair, Daniela and Fredershausen, Birgit and Vick, Philipp and Hermanns, Pia and Weiß, Birgit and Paramasivam, Nagarajan and Schlesner, Matthias and Lornsen, Katharina and R{\"o}th, Ralph and Klutmann, Carina and Kreis, Jennifer and Hoffmann, Georg F. and Pohlenz, Joachim and Rappold, Gudrun and Bettendorf, Markus}, title={Identification of transient receptor potential channel 4-associated protein as a novel candidate gene causing congenital primary hypothyroidism}, year={2020}, pages={16-29}, language={eng}, issn={1663-2826}, volume={93}, number={1}, note={Gesehen am 25.08.2020}, journal={Hormone research in paediatrics}, doi={10.1159/000507114}, } @article{UBHD-69049966, author={Choukair, Daniela and R{\"u}th, Eva-Maria and Blum, Werner F. and Mohan, Subburaman and Weber, Lutz T. and T{\"o}nshoff, Burkhard}, title={The IGF/IGFBP system in relation to macroscopic bone architecture in pediatric renal transplant patients}, year={2010}, pages={659-667}, language={eng}, issn={1432-198X}, volume={25}, number={4}, note={Online ver{\"o}ffentlicht am 22. Dezember 2009 ; Gesehen am 09.03.2023}, journal={Pediatric nephrology}, doi={10.1007/s00467-009-1405-5}, } @article{UBHD-68638665, author={Choukair, Daniela and H{\"u}gel, Ulrike and Sander, Anja and Uhlmann, Lorenz and T{\"o}nshoff, Burkhard}, title={Inhibition of IGF-I-related intracellular signaling pathways by proinflammatory cytokines in growth plate chondrocytes}, year={2014}, pages={245-251}, language={eng}, issn={1530-0447}, volume={76}, number={3}, note={Avance online publication 16 July 2014 ; Gesehen am 18.09.2020}, journal={Pediatric research}, doi={10.1038/pr.2014.84}, } @book{UBHD-67079085, author={Choukair, Daniela}, title={Das Insulin-like Growth Factor-System im Wachstumsknorpel}, year={2011}, pages={Getr. Z{\"a}hlung}, language={ger}, note={Enth{\"a}lt Zeitschriftenaufs{\"a}tze}, school={Heidelberg, Univ., Habil.-Schr., 2010}, library={UB [Signatur: 2011 U 623]}, } @article{UBHD-68298556, author={Choukair, Daniela and T{\"o}nshoff, Burkhard}, title={Insulin-like growth factors in normal and diseased kidney}, year={2012}, pages={351-374}, language={eng}, issn={1558-4410}, volume={41}, number={2}, note={Gesehen am 23.08.2018}, journal={Endocrinology and metabolism clinics of North America}, doi={10.1016/j.ecl.2012.04.015}, } @article{UBHD-68676280, author={Choukair, Daniela and Andress, Dennis L. and Mohan, Subburaman and St{\"a}ndker, Ludger and Ulinski, Tim and Himmele, Rainer and Mehls, Otto and T{\"o}nshoff, Burkhard}, title={Intact IGF-binding protein-4 and -5 and their respective fragments isolated from chronic renal failure serum differentially modulate IGF-I actions in cultured growth plate chondrocytes}, year={2001}, pages={2400-2410}, language={eng}, issn={1533-3450}, volume={12}, number={11}, note={Gesehen am 28.12.2020}, journal={Journal of the American Society of Nephrology}, } @article{UBHD-68862760, author={Choukair, Daniela and Hauck, Fabian and Bettendorf, Markus and Krude, Heiko and Klein, Christoph and B{\"a}umer, Tobias and Berner, Reinhard and Lee-Kirsch, Min Ae and Oberste-Berghaus, Corinna and Burgard, Peter and Hoffmann, Georg F.}, title={An integrated clinical pathway for diagnosis, treatment and care of rare diseases}, subtitle={model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee}, year={2021}, pages={1-13}, language={eng}, issn={1750-1172}, volume={16}, number={Artikel-ID 474}, note={Gesehen am 27.04.2022}, journal={Orphanet journal of rare diseases}, doi={10.1186/s13023-021-02092-w}, } @article{UBHD-69095086, author={Choukair, Daniela and Lee-Kirsch, Min Ae and Berner, Reinhard and Oberste-Berghaus, Corinna and Hiort, Olaf and Hauck, Fabian and Klein, Christoph and Druschke, Diana and Hoffmann, Georg F. and Burgard, Peter}, title={Der klinische Versorgungspfad zur multiprofessionellen Versorgung seltener Erkrankungen in der P{\"a}diatrie}, subtitle={Ergebnisse aus dem Projekt TRANSLATE-NAMSE}, year={2022}, pages={52-60}, language={ger}, issn={1433-0474}, volume={170}, number={1}, note={Online publiziert: 3. Dezember 2021 ; Gesehen am 10.07.2023}, journal={Monatsschrift Kinderheilkunde}, doi={10.1007/s00112-021-01378-4}, url={https://doi.org/10.1007/s00112-021-01378-4}, library={UB}, } @article{UBHD-69099457, author={Choukair, Daniela and H{\"u}ckmann, Annette and Mittnacht, Janna and Breil, Thomas and Schenk, Jens-Peter and Alrajab, Abdulsattar and Uhlmann, Lorenz and Bettendorf, Markus}, title={Near-adult heights and adult height predictions using automated and conventional Greulich-Pyle bone age determinations in children with chronic endocrine diseases}, year={2022}, pages={692-698}, language={eng}, issn={0973-7693}, volume={89}, number={7 vom: Juli}, note={Online ver{\"o}ffentlicht: 1. Februar 2022 ; Gesehen am 19.07.2023}, journal={Indian journal of pediatrics}, doi={10.1007/s12098-021-04009-8}, url={https://doi.org/10.1007/s12098-021-04009-8}, library={UB}, } @article{UBHD-69296761, author={Choukair, Daniela and Mittnacht, Janna and Treiber, Dorothea and Hoffmann, Georg F. and Grasemann, Corinna and Huebner, Angela and Berner, Reinhard and Burgard, Peter and Szendr{\"o}di, Julia and Bettendorf, Markus}, title={Resource use and costs of transitioning from paediatric to adult care for patients with chronic endocrine disease}, year={2024}, pages={121-129}, language={eng}, issn={1365-2265}, volume={101}, number={2 vom: Aug.}, note={Gesehen am 31.01.2025}, journal={Clinical endocrinology}, doi={10.1111/cen.15105}, } @book{UBHD-9829773, author={Choukair, Daniela}, title={Ventrikelweitenmessung mit transkraniellem Ultraschall}, year={1998}, pages={90 Bl.}, language={ger}, note={Nicht f{\"u}r den Austausch}, school={Heidelberg, Univ., Diss., 1998}, library={UB [Signatur: 98 U 815]}, } @article{UBHD-68724714, author={Choukair, Daniela and Beuschlein, Felix and Zwermann, Oliver and Wudy, Stefan A. and Haufe, Sabine and Holland-Cunz, Stefan and Bettendorf, Markus}, title={Virilization of a young girl caused by concomitant ectopic and intra-adrenal adenomas of the adrenal cortex}, year={2013}, pages={318-322}, language={eng}, issn={1663-2826}, volume={79}, number={5}, note={Gesehen am 16.04.2021}, journal={Hormone research in paediatrics}, doi={10.1159/000350244}, } @article{UBHD-69323657, author={Gippert, Sebastian and Brune, Maik and Choukair, Daniela and Bettendorf, Markus}, title={Insulin-induced copeptin response in children and adolescents to diagnose arginine vasopressin deficiency}, year={2024}, pages={1-8}, language={eng}, issn={1663-2826}, volume={97}, number={Suppl. 1}, note={Gesehen am 31.03.2025}, journal={Hormone research in paediatrics}, doi={10.1159/000541330}, } @article{UBHD-68787684, author={Gold, Annika and Fichtner, Alexander and Choukair, Daniela and Schmitt, Claus P. and S{\"u}sal, Caner and Dragun, Duska and T{\"o}nshoff, Burkhard}, title={Kidney re-transplantation in a child across the barrier of persisting angiotensin II type I receptor antibodies}, year={2021}, pages={725-729}, language={eng}, issn={1432-198X}, volume={36}, number={3}, note={Published online: 23 December 2020 ; Gesehen am 07.10.2021}, journal={Pediatric nephrology}, doi={10.1007/s00467-020-04879-8}, url={https://doi.org/10.1007/s00467-020-04879-8}, library={UB}, } @article{UBHD-69062458, author={Hebach, Nils R. and Caro, Pilar and Martin-Giacalone, Bailey A. and Lupo, Philip J. and Marbach, Felix and Choukair, Daniela and Schaaf, Christian P.}, title={A retrospective analysis of growth hormone therapy in children with Schaaf-Yang syndrome}, year={2021}, pages={298-307}, language={eng}, issn={1399-0004}, volume={100}, number={3}, note={Gesehen am 04.04.2023}, journal={Clinical genetics}, doi={10.1111/cge.14000}, url={https://doi.org/10.1111/cge.14000}, library={UB}, } @article{UBHD-68480793, author={Hughes, Joel J. and Choukair, Daniela}, title={Loss-of-function variants in PPP1R12A}, subtitle={from isolated sex reversal to holoprosencephaly spectrum and urogenital malformations}, year={2020}, pages={121-128}, language={eng}, issn={1537-6605}, volume={106}, number={1}, note={Available online 26 December 2019 ; Gesehen am 27.01.2020 ; Im Titel ist "PPP1R12A" kursiv geschrieben}, journal={The American journal of human genetics}, doi={10.1016/j.ajhg.2019.12.004}, } @article{UBHD-67986070, author={Inta, Ioana and Choukair, Daniela and Bender, Sebastian and Kneppo, Carolin and Knauer-Fischer, Sabine and Meyenburg, Kahina Amal and Ivandic, Boris and Pfister, Stefan and Bettendorf, Markus}, title={Guanine nucleotide-binding protein α subunit hypofunction in children with short stature and disproportionate shortening of the 4th and 5th metacarpals}, year={2014}, pages={196-203}, language={eng}, issn={1663-2826}, volume={81}, number={3}, note={Gesehen am 20.05.2016}, journal={Hormone research in paediatrics}, doi={10.1159/000356928}, } @article{UBHD-68892169, author={Lausberg, Eva and Gießelmann, Sebastian and Dewulf, Joseph P. and Wiame, Elsa and Holz, Anja and Salvarinova, Ramona and Karnebeek, Clara D. van and Klemm, Patricia and Ohl, Kim and Mull, Michael and Braunschweig, Till and Weis, Joachim and Sommer, Clemens J. and Demuth, Stephanie and Haase, Claudia and Stollbrink-Peschgens, Claudia and Debray, François-Guillaume and Libioulle, Cecile and Choukair, Daniela and Oommen, Prasad T. and Borkhardt, Arndt and Surowy, Harald and Wieczorek, Dagmar and Wagner, Norbert and Meyer, Robert and Eggermann, Thomas and Begemann, Matthias and Schaftingen, Emile Van and H{\"a}usler, Martin and Tenbrock, Klaus and Heuvel, Lambert van den and Elbracht, Miriam and Kurth, Ingo and Kraft, Florian}, title={C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation}, year={2021}, pages={1-12}, language={eng}, issn={1558-8238}, volume={131}, journal={The journal of clinical investigation}, doi={10.1172/JCI143078}, } @article{UBHD-68587707, author={Lehmann, Ronny and Hanebeck, Benjamin and Oberle, Stephan and Simon, Anke and Choukair, Daniela and T{\"o}nshoff, Burkhard and Huwendiek, S{\"o}ren}, title={Virtual patients in continuing medical education and residency training}, subtitle={a pilot project for acceptance analysis in the framework of a residency revision course in pediatrics}, year={2015}, language={eng and ger}, issn={1860-3572}, volume={32(2015}, note={Im PDF erscheint der Artikel auf den Seiten 1 - 4 in englischer Sprache und auf den Seiten 5 - 9 in deutscher Sprache ; Gesehen am 17.06.2020}, journal={GMS Zeitschrift f{\"u}r medizinische Ausbildung}, doi={10.3205/zma000993}, } @article{UBHD-68760366, author={Li, Dong and Wang, Qin and Gong, Naihua N. and Kurolap, Alina and Feldman, Hagit Baris and Boy, Nikolas and Brugger, Melanie and Grand, Katheryn and McWalter, Kirsty and Sacoto, Maria J. Guillen and Wakeling, Emma and Hurst, Jane and March, Michael E. and Bhoj, Elizabeth J. and Nowaczyk, Małgorzata J. M. and Gonzaga-Jauregui, Claudia and Mathew, Mariam and Dava-Wala, Ashita and Siemon, Amy and Bartholomew, Dennis and Huang, Yue and Lee, Hane and Martinez-Agosto, Julian A. and Schwaibold, Eva M. C. and Brunet, Theresa and Choukair, Daniela and Pais, Lynn S. and White, Susan M. and Christodoulou, John and Brown, Dana and Lindstrom, Kristin and Grebe, Theresa and Tiosano, Dov and Kayser, Matthew S. and Tan, Tiong Yang and Deardorff, Matthew A. and Song, Yuanquan and Hakonarson, Hakon}, title={Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features}, year={2021}, pages={1-12}, language={eng}, issn={2375-2548}, volume={7}, note={Gesehen am 15.07.2021}, journal={Science advances}, doi={10.1126/sciadv.abf2066}, } @article{UBHD-69040801, author={Marafi, Dana and Kozar, Nina and Duan, Ruizhi and Bradley, Stephen and Yokochi, Kenji and Al Mutairi, Fuad and Saadi, Nebal Waill and Whalen, Sandra and Brunet, Theresa and Kotzaeridou, Urania and Choukair, Daniela and Keren, Boris and Nava, Caroline and Kato, Mitsuhiro and Arai, Hiroshi and Froukh, Tawfiq and Faqeih, Eissa Ali and AlAsmari, Ali M. and Saleh, Mohammed M. and Pinto e Vairo, Filippo and Pichurin, Pavel N. and Klee, Eric W. and Schmitz, Christopher T. and Grochowski, Christopher M. and Mitani, Tadahiro and Herman, Isabella and Calame, Daniel G. and Fatih, Jawid M. and Du, Haowei and Coban-Akdemir, Zeynep and Pehlivan, Davut and Jhangiani, Shalini N. and Gibbs, Richard A. and Miyatake, Satoko and Matsumoto, Naomichi and Wagstaff, Laura J. and Posey, Jennifer E. and Lupski, James R. and Meijer, Dies and Wagner, Matias}, title={A reverse genetics and genomics approach to gene paralog function and disease}, subtitle={myokymia and the juxtaparanode}, year={2022}, pages={1713-1723}, language={eng}, issn={1537-6605}, volume={109}, number={9}, note={Gesehen am 13.02.2023}, journal={The American journal of human genetics}, doi={10.1016/j.ajhg.2022.07.006}, } @article{UBHD-68952572, author={Martin, David Dominique and Wit, Jan M. and Hochberg, Ze’ev and S{\"a}vendahl, Lars and Rijn, Rick R. van and Fricke, Oliver and Cameron, Noël and Caliebe, Janina and Hertel, Thomas and Choukair, Daniela and Albertsson-Wikland, Kerstin and Thodberg, Hans Henrik and Binder, Gerhard and Ranke, Michael B.}, title={The use of bone age in clinical practice - part 1}, year={2011}, pages={1-9}, language={eng}, issn={1663-2826}, volume={76}, number={1}, note={Gesehen am 11.08.2022}, journal={Hormone research in paediatrics}, doi={10.1159/000329372}, } @article{UBHD-68083045, author={Mittnacht, Janna and Choukair, Daniela and Kneppo, Carolin and Brunner, Romuald and Parzer, Peter and Gorenflo, Matthias and Bettendorf, Markus}, title={Long-term neurodevelopmental outcome of children treated with Tri-Iodothyronine after cardiac surgery}, subtitle={follow-up of a double-blind, randomized, placebo-controlled study}, year={2015}, pages={130-136}, language={eng}, issn={1663-2826}, volume={84}, number={2}, note={Gesehen am 10.02.2017}, journal={Hormone research in paediatrics}, doi={10.1159/000381711}, } @article{UBHD-68833522, author={Mittnacht, Janna and Choukair, Daniela and Breil, Thomas and Klose, Daniela and Inta, Ioana and Bettendorf, Markus}, title={Relation of health-related quality of life to near final height and body composition in adolescents with chronic endocrinopathies during transition period}, year={2020}, pages={696-704}, language={eng}, issn={1365-2265}, volume={93}, number={6}, note={First published: 18 July 2020 ; Gesehen am 17.12.2021}, journal={Clinical endocrinology}, doi={10.1111/cen.14287}, url={https://doi.org/10.1111/cen.14287}, library={UB}, } @article{UBHD-69085882, author={Oberste-Berghaus, Corinna and H{\"o}ppner, Jakob and Burgard, Peter and Sch{\"u}ndeln, Michael Maria and Matar, Nora and M{\"u}ller, Gabriele and Krude, Heiko and Berner, Reinhard and Lee-Kirsch, Min Ae and Hauck, Fabian and Wainwright, Kerstin and Baumgarten, Sylvana and Atinga, Janet and Bauer, Jens J. and Manka, Eva and K{\"o}rholz, Julia and Kiewert, Cordula and Heinen, André and Kretschmer, Tanita and Kurth, Tobias and Mittnacht, Janna and Schramm, Christoph and Klein, Christoph and Graessner, Holm and Hiort, Olaf and Muntau, Ania C. and Gr{\"u}ters, Annette and Hoffmann, Georg F. and Choukair, Daniela}, title={Transition for adolescents with a rare disease}, subtitle={results of a nationwide German project}, year={2023}, pages={1-9}, language={eng}, issn={1750-1172}, volume={18(2023) vom: Apr.}, number={Artikel-ID 93}, note={Gesehen am 15.06.2023}, journal={Orphanet journal of rare diseases}, doi={10.1186/s13023-023-02698-2}, } @article{UBHD-68422019, author={Simm, Franziska and Griesbeck, Anne and Choukair, Daniela and Weiß, Birgit and Paramasivam, Nagarajan and Klammt, J{\"u}rgen and Schlesner, Matthias and Wiemann, Stefan and Martinez, Cristina and Hoffmann, Georg F. and Pf{\"a}ffle, Roland Werner and Bettendorf, Markus and Rappold, Gudrun}, title={Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency}, year={2018}, pages={728-736}, language={eng}, issn={1530-0366}, volume={20}, number={7}, note={Advance online publication: 26 October 2017 ; Gesehen am 19.08.2019}, journal={Genetics in medicine}, doi={10.1038/gim.2017.165}, } @article{UBHD-68678720, author={Ulinski, Tim and Mohan, S. and Choukair, Daniela and Blum, W. F. and Wingen, A.-M. and Mehls, Otto and T{\"o}nshoff, Burkhard}, title={Serum insulin-like growth factor binding protein (IGFBP)-4 and IGFBP-5 in children with chronic renal failure}, subtitle={relationship to growth and glomerular filtration rate}, year={2000}, pages={589-597}, language={eng}, issn={1432-198X}, volume={14}, number={7}, note={Gesehen am 11.01.2021}, journal={Pediatric nephrology}, doi={10.1007/s004670000361}, } @article{UBHD-68909291, author={Vick, Philipp and Fredershausen, Birgit and Choukair, Daniela and Weiß, Birgit and R{\"o}th, Ralph and Schneider, Isabelle and Paramasivam, Nagarajan and Bettendorf, Markus and Rappold, Gudrun}, title={Identification of ZBTB26 as a novel risk factor for congenital hypothyroidism}, year={2021}, pages={1-10}, language={eng}, issn={2073-4425}, volume={12}, note={Gesehen am 21.04.2022}, journal={Genes}, doi={10.3390/genes12121862}, } @article{UBHD-68391171, author={Vogt, Peter H. and Beşikoğlu, Banu and Bettendorf, Markus and Frank-Herrmann, Petra and Zimmer, Jutta and Bender, Ulrike and Knauer-Fischer, Sabine and Choukair, Daniela and Sinn, Peter and Strowitzki, Thomas}, title={Gonadoblastoma Y locus genes expressed in germ cells of individuals with dysgenetic gonads and a Y chromosome in their karyotypes include DDX3Y and TSPY}, year={2019}, pages={770-779}, language={eng}, issn={1460-2350}, volume={34}, number={4}, note={Gesehen am 20.05.2019}, journal={Human reproduction}, doi={10.1093/humrep/dez004}, } @article{UBHD-69346282, author={Zoch, Michéle and Gierschner, Christian and Andreeff, Anne-Katrin and Henke, Elisa and Sedlmayr, Martin and M{\"u}ller, Gabriele and Tippmann, Jenny and Hebestreit, Helge and Choukair, Daniela and Hoffmann, Georg F. and Fritz-Kebede, Fleur and Toepfner, Nicole and Berner, Reinhard and Biergans, Stephanie Dagmar and Verb{\"u}cheln, Raphael and Schaaf, Jannik and Fleck, Julia and Wirth, Felix Nikolaus and Schepers, Josef and Praßer, Fabian}, title={Secondary use of patient data within decentralized studies using the example of rare diseases in Germany}, subtitle={a data scientist's exploration of process and lessons learned}, year={2024}, pages={1-11}, language={eng}, issn={2055-2076}, volume={10}, number={Artikel-ID 20552076241265219}, note={Online ver{\"o}ffentlicht am 10. August 2024 ; Gesehen am 20.05.2025}, journal={Digital health}, doi={10.1177/20552076241265219}, }