Research ExplorerResearch UnitsDepartment of Pediatrics Publications

Department of Pediatrics

701 - 750 out of 1,684Page size: 50

Publications

  1. 2017

  2. Liver transplantation as a potentially lifesaving measure in neuroblastoma stage 4S

    Holsten, T., Schuster, T., Grabhorn, E., Hero, B. & Frühwald, M. C., 02.2017, In: PEDIATR HEMAT ONCOL. 34, 1, p. 17-23 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  3. Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

    Zeltner, N. A., Landolt, M. A., Baumgartner, M. R., Lageder, S., Quitmann, J., Sommer, R., Karall, D., Mühlhausen, C., Schlune, A., Scholl-Bürgi, S. & Huemer, M., 02.2017, In: JIMD reports. 31, p. 1-9

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  4. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

    Oud, M. M., Tuijnenburg, P., Hempel, M., van Vlies, N., Ren, Z., Ferdinandusse, S., Jansen, M. H., Santer, R., Johannsen, J., Bacchelli, C., Alders, M., Li, R., Davies, R., Dupuis, L., Cale, C. M., Wanders, R. J. A., Pals, S. T., Ocaka, L., James, C., Müller, I., Lehmberg, K., Strom, T., Engels, H., Williams, H. J., Beales, P., Roepman, R., Dias, P., Brunner, H. G., Cobben, J-M., Hall, C., Hartley, T., Le Quesne Stabej, P., Mendoza-Londono, R., Davies, E. G., de Sousa, S. B., Lessel, D., Arts, H. H. & Kuijpers, T. W., 02.2017, In: AM J HUM GENET. 100, 2, p. 281-296

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  5. Key European guidelines for the diagnosis and management of patients with phenylketonuria

    van Spronsen, F. J., van Wegberg, A. M., Ahring, K., Bélanger-Quintana, A., Blau, N., Bosch, A. M., Burlina, A., Campistol, J., Feillet, F., Giżewska, M., Huijbregts, S. C., Kearney, S., Leuzzi, V., Maillot, F., Muntau, A. C., Trefz, F. K., van Rijn, M., Walter, J. H. & MacDonald, A., 09.01.2017, In: LANCET DIABETES ENDO.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  6. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

    Boy, N., Mühlhausen, C., Maier, E. M., Heringer, J., Assmann, B., Burgard, P., Dixon, M., Fleissner, S., Greenberg, C. R., Harting, I., Hoffmann, G. F., Karall, D., Koeller, D. M., Krawinkel, M. B., Okun, J. G., Opladen, T., Posset, R., Sahm, K., Zschocke, J., Kölker, S. & Additional individual contributors, 05.01.2017, In: J INHERIT METAB DIS. 40, 1, p. 75-101

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  7. Clinical and Laboratory Consequences of Platelet Transfusion in Shiga Toxin-Mediated Hemolytic Uremic Syndrome

    Beneke, J., Sartison, A., Kielstein, J. T., Haller, H., Nitschke, M., Kunzendorf, U., Loos, S., Kemper, M. J., Stahl, R. A. K., Menne, J. & German 2011 STEC-HUS outbreak study group, 01.2017, In: TRANSFUS MED REV. 31, 1, p. 51-55 5 p.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  8. MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2

    Coady, M. J., El Tarazi, A., Santer, R., Bissonnette, P., Sasseville, L. J., Calado, J., Lussier, Y., Dumayne, C., Bichet, D. G. & Lapointe, J-Y., 01.2017, In: J AM SOC NEPHROL. 28, 1, p. 85-93

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  9. Elektrounfälle im Kindes- und Jugendalter

    Singer, D., 2017, In: Notfallmed up2date. 12, 4, p. 411-429

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Education › peer-review

  10. GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms

    Sperb-Ludwig, F., Acosta, AX., Ribeiro, EM., Kim, CA., Gandelman Horovitz, DD., Boy, R., Rodovalho-Doriqui, MJ., Lourenço, LM., Santos, ES., Braulke, T., Pohl, S. & Schwartz, IVD., 2017, In: INT J BIOCHEM CELL B. 92, p. 90-94

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  11. Kongenitaler melanozytärer Riesennävus.

    Thayssen, M., Wolf, M., Höger, P. H. & Singer, D., 2017, In: Z GEBURTSH NEONATOL. 221, 02, p. 92-93

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Education › peer-review

  12. Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy

    Okun, J. G., Gan-Schreier, H., Ben-Omran, T., Schmidt, K. V., Fang-Hoffmann, J., Gramer, G., Abdoh, G., Shahbeck, N., Al Rifai, H., Al Khal, A. L., Haege, G., Chiang, C-C., Kasper, D. C., Wilcken, B., Burgard, P. & Hoffmann, G. F., 2017, In: JIMD reports. 32, p. 87-94 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  13. Physical and Psychological Well-Being in Overweight Children Participating in a Long-Term Intervention Based on Judo Practice

    Geertz, W., Dechow, A-S., Pohl, E., Zyriax, B-C., Ganschow, R. & Schulz, K-H., 2017, In: Advances in Physical Education. 7, p. 85-100

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  14. Physiologie der Atmung im Kindesalter.

    Singer, D., 2017, Beatmung von Kindern, Neugeborenen und Frühgeborenen: Ein Leitfaden für Pädiater, Neonatologen und Anästhesisten.. Humberg, A., Herting, E., Göpel, W. & Härtel, C. (eds.). 1 ed. Georg Thieme Verlag KG, p. 33-56

    Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Education › peer-review

  15. Psychosozialer Unterstützungsbedarf von Eltern mit schwer chronisch somatisch erkrankten Kindern

    Morgenstern, L., Wagner, M., Denecke, J., Grolle, B., Johannsen, J., Wegscheider, K. & Wiegand-Grefe, S., 2017, In: PRAX KINDERPSYCHOL K. 66, 9, p. 687 -701

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  16. Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders

    Monostori, P., Klinke, G., Richter, S., Baráth, Á., Fingerhut, R., Baumgartner, M. R., Kölker, S., Hoffmann, G. F., Gramer, G. & Okun, J. G., 2017, In: PLOS ONE. 12, 9, p. e0184897

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  17. The HER2 phenotype of circulating tumor cells in HER2-positive early breast cancer: A translational research project of a prospective randomized phase III trial

    Jaeger, B. A. S., Neugebauer, J., Andergassen, U., Melcher, C., Schochter, F., Mouarrawy, D., Ziemendorff, G., Clemens, M., V Abel, E., Heinrich, G., Schueller, K., Schneeweiss, A., Fasching, P., Beckmann, M. W., Scholz, C., Friedl, T. W. P., Friese, K., Pantel, K., Fehm, T., Janni, W. & Rack, B., 2017, In: PLOS ONE. 12, 6, p. e0173593

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  18. The Natural History of Canavan Disease: Description of 23 New Cases and Comparison with Literature

    Bohnenpoll, J., Eichler, F. S., Schoen, G., Hischke, S., Denecke, J., Hempel, M., Kohlschütter, A. & Bley, A., 2017, In: NEUROPEDIATRICS. 48, S 01, p. 26 26 p.

    Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review

  19. Urinöser Aszites bei Sinus-urogenitalis-Fehlbildung.

    Wolf, M., Bergholz, R., Diehl, T., Thayssen, M., Diemert, A., Reinshagen, K. & Singer, D., 2017, In: Z GEBURTSH NEONATOL. 221, 04, p. 198-200

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Education › peer-review

  20. 2016

  21. Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family

    Pinheiro, A., Silva, M. J., Pavlu-Pereira, H., Florindo, C., Barroso, M., Marques, B., Correia, H., Oliveira, A., Gaspar, A., Tavares de Almeida, I. & Rivera, I., 12.2016, In: DATA BRIEF. 9, p. 68-77 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  22. Identification of the interaction domains between α- and γ-subunits of GlcNAc-1-phosphotransferase

    Velho, R. V., De Pace, R., Tidow, H., Braulke, T. & Pohl, S., 12.2016, In: FEBS LETT. 590, 23, p. 4287-4295 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  23. PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

    Southey, M. C., Goldgar, D. E., Winqvist, R., Pylkäs, K., Couch, F., Tischkowitz, M., Foulkes, W. D., Dennis, J., Michailidou, K., van Rensburg, E. J., Heikkinen, T., Nevanlinna, H., Hopper, J. L., Dörk, T., Claes, K. B., Reis-Filho, J. S., Teo, Z. L., Radice, P., Catucci, I., Peterlongo, P., Tsimiklis, H., Odefrey, F. A., Dowty, J. G., Schmidt, M. K., Broeks, A., Hogervorst, F. B. L., Verhoef, S., Carpenter, J. E., Clarke, C. L., Scott, R. J., Fasching, P. A., Haeberle, L., Ekici, A. B., Peto, J., Dos-Santos-Silva, I., Fletcher, O., Johnson, N., Bolla, M. K., Sawyer, E. J., Tomlinson, I., Kerin, M. J., Miller, N., Marme, F., Burwinkel, B., Yang, R., Guénel, P., Truong, T., Menegaux, F., Sanchez, M., Bojesen, S. E., Nielsen, S. F., Flyger, H., Benitez, J., Zamora, M. P., Perez, J. I. A., Menéndez, P., Anton-Culver, H., Neuhausen, S. L., Ziogas, A., Clarke, C. A., Brenner, H., Arndt, V., Stegmaier, C., Brauch, H., Brüning, T., Ko, Y-D., Muranen, T. A., Aittomäki, K., Blomqvist, C., Bogdanova, N. V., Antonenkova, N., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V-M., Hartikainen, J. M., Spurdle, A. B., Investigators, K., Wauters, E., Smeets, D., Beuselinck, B., Floris, G., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Olson, J. E., Vachon, C., Pankratz, V. S., McLean, C., Haiman, C. A., Henderson, B. E., Schumacher, F., Le Marchand, L., Kristensen, V., Alnæs, G. G., Zheng, W., Hunter, D. J., Lindstrom, S., Hankinson, S. E., Kraft, P., Andrulis, I. L., Knight, J. A., Glendon, G., Mulligan, A. M., Jukkola-Vuorinen, A., Grip, M., Kauppila, S., Devilee, P., Tollenaar, R. A. E. M., Seynaeve, C., Hollestelle, A., Garcia-Closas, M., Figueroa, J., Chanock, S. J., Lissowska, J., Czene, K., Darabi, H., Eriksson, M., Eccles, D. M., Rafiq, S., Tapper, W. J., Gerty, S. M., Hooning, M. J., Martens, J. W. M., Collée, J. M., Tilanus-Linthorst, M., Hall, P., Li, J., Brand, J. S., Humphreys, K., Cox, A., Reed, M. W. R., Luccarini, C., Baynes, C., Dunning, A. M., Hamann, U., Torres, D., Ulmer, H. U., Rüdiger, T., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Slager, S., Toland, A. E., Ambrosone, C. B., Yannoukakos, D., Swerdlow, A., Ashworth, A., Orr, N., Jones, M., González-Neira, A., Pita, G., Alonso, M. R., Álvarez, N., Herrero, D., Tessier, D. C., Vincent, D., Bacot, F., Simard, J., Dumont, M., Soucy, P., Eeles, R., Muir, K., Wiklund, F., Gronberg, H., Schleutker, J., Nordestgaard, B. G., Weischer, M., Travis, R. C., Neal, D. E., Donovan, J. L., Hamdy, F. C., Khaw, K-T., Stanford, J. L., Blot, W. J., Thibodeau, S. N., Schaid, D. J., Kelley, J. L., Maier, C., Kibel, A. S., Cybulski, C., Cannon-Albright, L. A., Butterbach, K., Park, J-S., Kaneva, R., Batra, J., Teixeira, M. R., Kote-Jarai, ZS., Olama, A. A. A., Benlloch, S., Renner, S. P., Hartmann, A., Hein, A., Ruebner, M., Lambrechts, D., van Nieuwenhuysen, E., Vergote, I., Lambretchs, S., Doherty, J. A., Rossing, M. A., Nickels, S., Eilber, U., Wang-Gohrke, S., Odunsi, K., Sucheston-Campbell, L. E., Friel, G., Lurie, G., Killeen, J. L., Wilkens, L. R., Goodman, M. T., Runnebaum, I., Hillemanns, P. A., Pelttari, L. M., Butzow, R., Modugno, F., Edwards, R. P., Ness, R. B., Moysich, K. B., du Bois, A., Heitz, F., Harter, P., Kommoss, S., Karlan, B. Y., Walsh, C., Lester, J., Jensen, A., Kjaer, S. K., Høgdall, E., Peissel, B., Bonanni, B., Bernard, L., Goode, E. L., Fridley, B. L., Vierkant, R. A., Cunningham, J. M., Larson, M. C., Fogarty, Z. C., Kalli, K. R., Liang, D., Lu, K. H., T Hildebrandt, M. A., Wu, X., Levine, D. A., Dao, F., Bisogna, M., Berchuck, A., Iversen, E. S., Marks, J. R., Akushevich, L., Cramer, D. W., Schildkraut, J. M., Terry, K. L., Poole, E. M., Stampfer, M. J., Tworoger, S. S., Bandera, E. V., Orlow, I., Olson, S. H., Bjorge, L., Salvesen, H. B., Altena, A. M., Aben, K. K. H., Kiemeney, L. A., Massuger, L. F. A. G., Pejovic, T., Bean, Y. T., Brooks-Wilson, A., Kelemen, L. E., Cook, L. S., Le, N. D., Górski, B., Gronwald, J., Menkiszak, J., Høgdall, C. K., Lundvall, L., Nedergaard, L., Engelholm, S. A., Dicks, E., Tyrer, J., Campbell, I., McNeish, I., Paul, J., Siddiqui, N., Glasspool, R., Whittemore, A. S., Rothstein, J. H., McGuire, V., Sieh, W., Cai, H., Shu, X-O., Teten, R. T., Sutphen, R., McLaughlin, J. R., Narod, S. A., Phelan, C. M., Monteiro, A. N. A., Fenstermacher, D., Lin, H-Y., Permuth, J. B., Sellers, T. A., Chen, A. Y., Tsai, Y-Y., Chen, Z., Gentry-Maharaj, A., Gayther, S. A., Ramus, S. J., Menon, U., Wu, A. H., Pearce, C. L., van den Berg, D., Pike, M. C., Dansonka-Mieszkowska, A., Plisiecka-Halasa, J., Moes-Sosnowska, J., Kupryjanczyk, J., Pharoah, P. D., Song, H., Winship, I., Chenevix-Trench, G., Giles, G., Tavtigian, S. V., Easton, D. F., Milne, R. L. & Australian Ovarian Cancer Study, 12.2016, In: J MED GENET. 53, 12, p. 800-811 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  24. Secretory Activity of Neutrophils Correlates With Genotype in Familial Mediterranean Fever

    Gohar, F., Orak, B., Kallinich, T., Jeske, M., Lieber, M., von Bernuth, H., Giese, A., Weissbarth-Riedel, E., Haas, J-P., Dressler, F., Holzinger, D., Lohse, P., Neudorf, U., Lainka, E., Hinze, C., Masjosthusmann, K., Kessel, C., Weinhage, T., Foell, D. & Wittkowski, H., 12.2016, In: ARTHRITIS RHEUM-US. 68, 12, p. 3010-3022

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  25. rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk

    Liu, J., Lončar, I., Collée, J. M., Bolla, M. K., Dennis, J., Michailidou, K., Wang, Q., Andrulis, I. L., Barile, M., Behrens, S., Benitez, J., Blomqvist, C., Boeckx, B., Bogdanova, N. V., Bojesen, S. E., Brauch, H., Brennan, P., Brenner, H., Broeks, A., Burwinkel, B., Chang-Claude, J., Chen, S-T., Chenevix-Trench, G., Cheng, Y-C., Choi, J-Y., Couch, F. J., Cox, A., Cross, S. S., Cuk, K., Czene, K., Dörk, T., Dos-Santos-Silva, I., Fasching, P. A., Figueroa, J., Flyger, H., García-Closas, M., Giles, G., Glendon, G., Goldberg, M. S., González-Neira, A., Guénel, P., Haiman, C. A., Hamann, U., Hart, S. N., Hartman, M., Hatse, S., Hopper, J. L., Ito, H., Jakubowska, A., Kabisch, M., Kang, D., Kosma, V-M., Kristensen, V. N., Le Marchand, L., Lee, E., Li, J., Lophatananon, A., Jan Lubinski, Mannermaa, A., Matsuo, K., Milne, R. L., Neuhausen, S. L., Nevanlinna, H., Orr, N., Perez, J. I. A., Peto, J., Putti, T. C., Pylkäs, K., Radice, P., Sangrajrang, S., Sawyer, E. J., Schmidt, M. K., Schneeweiss, A., Shen, C-Y., Shrubsole, M. J., Shu, X-O., Simard, J., Southey, M. C., Swerdlow, A., Teo, S-H., Tessier, D. C., Thanasitthichai, S., Tomlinson, I., Torres, D., Truong, T., Tseng, C-C., Vachon, C., Winqvist, R., Wu, A. H., Yannoukakos, D., Zheng, W., Hall, P., Dunning, A. M., Easton, D. F., Hooning, M. J., Ouweland, A. M. W. V. D., Martens, J. W. M., Hollestelle, A. & NBCS Collaborators, 15.11.2016, In: SCI REP-UK. 6, p. 36874

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  26. Dolutegravir in breast milk and maternal and infant plasma during breastfeeding

    Kobbe, R., Schalkwijk, S., Dunay, G. A., Eberhard, J. M., Schulze-Sturm, U., Hollwitz, B., Degen, O., Teulen, M., Colbers, A. & Burger, D., 13.11.2016, In: AIDS. 30, 17, p. 2731-2733 3 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  27. Inherited variants affecting RNA editing may contribute to ovarian cancer susceptibility: results from a large-scale collaboration

    Permuth, J. B., Reid, B., Earp, M., Chen, A. Y., Monteiro, A. N. A., Chen, Z., Chenevix-Trench, G., Fasching, P. A., Lambrechts, D., Vanderstichele, A., Van Niewenhuyse, E., Vergote, I., Rossing, M. A., Doherty, J. A., Chang-Claude, J., Moysich, K. B., Odunsi, K., Goodman, M. T., Shvetsov, Y. B., Wilkens, L. R., Thompson, P. J., Dörk, T., Bogdanova, N., Butzow, R., Nevanlinna, H., Pelttari, L. M., Leminen, A., Modugno, F., Edwards, R. P., Ness, R. B., Kelley, J. L., Heitz, F., Karlan, B., Lester, J., Kjaer, S. K., Jensen, A., Giles, G., T Hildebrandt, M. A., Liang, D., Lu, K. H., Wu, X., Levine, D. A., Bisogna, M., Berchuck, A., Cramer, D. W., Terry, K. L., Tworoger, S. S., Poole, E. M., Bandera, E. V., Fridley, B. L., Cunningham, J. M., Winham, S. J., Olson, S. H., Orlow, I., Bjorge, L., Kiemeney, L. A., Massuger, L. F. A. G., Pejovic, T., Moffitt, M., Le, N. D., Cook, L. S., Brooks-Wilson, A., Kelemen, L. E., Gronwald, J., Lubinski, J., Wentzensen, N., Brinton, L. A., Lissowska, J., Yang, H. P., Hogdall, E., Hogdall, C., Lundvall, L., Pharoah, P. D. P., Song, H., Campbell, I., Eccles, D., McNeish, I., Whittemore, A. S., McGuire, V., Sieh, W., Rothstein, J., Phelan, C. M., Risch, H. A., Narod, S. A., McLaughlin, J. R., Anton-Culver, H., Ziogas, A., Menon, U., Gayther, S. A., Ramus, S. J., Gentry-Maharaj, A., Pearce, C. L., Wu, A. H., Kupryjanczyk, J., Dansonka-Mieszkowska, A., Schildkraut, J. M., Cheng, J. Q., Goode, E. L., Sellers, T. A. & AOCS study group, 08.11.2016, In: ONCOTARGET. 7, 45, p. 72381-72394 14 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  28. Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer

    Painter, J. N., O'Mara, T. A., Marquart, L., Webb, P. M., Attia, J., Medland, S. E., Cheng, T., Dennis, J., Holliday, E. G., McEvoy, M., Scott, R. J., Ahmed, S., Healey, C. S., Shah, M., Gorman, M., Martin, L., Hodgson, S. V., Ekici, A. B., Fasching, P. A., Hein, A., Rübner, M., Czene, K., Darabi, H., Hall, P., Li, J., Dörk, T., Dürst, M., Hillemanns, P., Runnebaum, I. B., Amant, F., Annibali, D., Depreeuw, J., Lambrechts, D., Neven, P., Cunningham, J. M., Dowdy, S. C., Goode, E. L., Fridley, B. L., Winham, S. J., Njølstad, T. S., Salvesen, H. B., Trovik, J., Werner, H. M. J., Ashton, K. A., Otton, G., Proietto, A., Mints, M., Tham, E., Bolla, M. K., Michailidou, K., Wang, Q., Tyrer, J. P., Hopper, J. L., Peto, J., Swerdlow, A. J., Burwinkel, B., Brenner, H., Meindl, A., Brauch, H., Lindblom, A., Chang-Claude, J., Couch, F. J., Giles, G., Kristensen, V. N., Cox, A., Pharoah, P. D. P., Tomlinson, I., Dunning, A. M., Easton, D. F., Thompson, D. J., Spurdle, A. B. & AOCS study group, 11.2016, In: CANCER EPIDEM BIOMAR. 25, 11, p. 1503-1510 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  29. Nerve ultrasound in clinical management of carpal tunnel syndrome in mucopolysaccharidosis

    Bäumer, T., Bühring, N., Schelle, T., Münchau, A. & Muschol, N., 11.2016, In: DEV MED CHILD NEUROL. 58, 11, p. 1172-1179 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  30. Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells

    Pinheiro, A., Silva, M. J., Pavlu-Pereira, H., Florindo, C., Barroso, M., Marques, B., Correia, H., Oliveira, A., Gaspar, A., Tavares de Almeida, I. & Rivera, I., 15.10.2016, In: GENE. 591, 2, p. 417-24 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  31. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

    Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., Undiagnosed Diseases Network, Freemark, M. S., Bellet, J. S., Keels, M. A., Bonner, M. J., El-Dairi, M., Butler, M., Kranz, P. G., Stumpel, C. T. R. M., Klinkenberg, S., Oberndorff, K., Alawi, M., Santer, R., Petrovski, S., Kuismin, O., Korpi-Heikkilä, S., Pietilainen, O., Aarno, P., Kurki, M. I., Hoischen, A., Need, A. C., Goldstein, D. B. & Kortüm, F., 06.10.2016, In: AM J HUM GENET. 99, 4, p. 991-999 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  32. Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

    Ghoussaini, M., French, J. D., Michailidou, K., Nord, S., Beesley, J., Canisus, S., Hillman, K. M., Kaufmann, S., Sivakumaran, H., Moradi Marjaneh, M., Lee, J. S., Dennis, J., Bolla, M. K., Wang, Q., Dicks, E., Milne, R. L., Hopper, J. L., Southey, M. C., Schmidt, M. K., Broeks, A., Muir, K., Lophatananon, A., Fasching, P. A., Fletcher, O., Johnson, N., Sawyer, E. J., Tomlinson, I., Burwinkel, B., Marme, F., Guénel, P., Truong, T., Bojesen, S. E., Flyger, H., Benitez, J., González-Neira, A., Alonso, M. R., Pita, G., Neuhausen, S. L., Anton-Culver, H., Brenner, H., Arndt, V., Meindl, A., Schmutzler, R. K., Brauch, H., Hamann, U., Tessier, D. C., Vincent, D., Nevanlinna, H., Khan, S., Matsuo, K., Ito, H., Dörk, T., Bogdanova, N. V., Lindblom, A., Margolin, S., Mannermaa, A., Kosma, V-M., Wu, A. H., van den Berg, D., Lambrechts, D., Floris, G., Chang-Claude, J., Rudolph, A., Radice, P., Barile, M., Couch, F. J., Hallberg, E., Giles, G., Haiman, C. A., Le Marchand, L., Goldberg, M. S., Teo, S-H., Yip, C. H., Borresen-Dale, A-L., Zheng, W., Cai, Q., Winqvist, R., Pylkäs, K., Andrulis, I. L., Devilee, P., Tollenaar, R. A. E. M., García-Closas, M., Figueroa, J., Hall, P., Czene, K., Brand, J. S., Darabi, H., Eriksson, M., Hooning, M. J., Koppert, L. B., Li, J., Shu, X-O., Zheng, Y., Cox, A., Cross, S. S., Shah, M., Rhenius, V., Choi, J-Y., Kang, D., Hartman, M., Chia, K. S., Kabisch, M., Torres, D., Luccarini, C., Conroy, D. M., Jakubowska, A., Lubinski, J., Sangrajrang, S., Brennan, P., Olswold, C., Slager, S., Shen, C-Y., Hou, M-F., Swerdlow, A., Schoemaker, M. J., Simard, J., Pharoah, P. D. P., Kristensen, V., Chenevix-Trench, G., Easton, D. F., Dunning, A. M., Edwards, S. L. & kConFab/AOCS Investigators, 06.10.2016, In: AM J HUM GENET. 99, 4, p. 903-911 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  33. Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis

    Diez-Fernandez, C., Rüfenacht, V., Santra, S., Lund, A. M., Santer, R., Lindner, M., Tangeraas, T., Unsinn, C., de Lonlay, P., Burlina, A., van Karnebeek, C. D. M. & Häberle, J., 10.2016, In: GENET MED. 18, 10, p. 991-1000

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  34. Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression

    Löbel, U., Sedlacik, J., Nickel, M., Lezius, S., Fiehler, J., Nestrasil, I., Kohlschütter, A. & Schulz, A., 10.2016, In: AM J NEURORADIOL. 37, 10, p. 1938 – 1943

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  35. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

    Kim, J-H., Shinde, D. N., Reijnders, M. R. F., Hauser, N. S., Belmonte, R. L., Wilson, G. R., Bosch, D. G. M., Bubulya, P. A., Shashi, V., Petrovski, S., Stone, J. K., Park, E. Y., Veltman, J. A., Sinnema, M., Stumpel, C. T. R. M., Draaisma, J. M., Nicolai, J., Yntema, H. G., Lindstrom, K., de Vries, B. B. A., Jewett, T., Santoro, S. L., Vogt, J., Bachman, K. K., Seeley, A. H., Krokosky, A., Turner, C., Rohena, L., Hempel, M., Kortüm, F., Lessel, D., Neu, A., Strom, T. M., Wieczorek, D., Bramswig, N., Laccone, F. A., Behunova, J., Rehder, H., Gordon, C. T., Rio, M., Romana, S., Tang, S., El-Khechen, D., Cho, M. T., McWalter, K., Douglas, G., Baskin, B., Begtrup, A., Funari, T., Schoch, K., Stegmann, A. P. A., Stevens, S. J. C., Zhang, D-E., Traver, D., Yao, X., MacArthur, D. G., Brunner, H. G., Mancini, G. M. S., Myers, R. M., Owen, L. B., Lim, S-T., Stachura, D. L., Vissers, L. E. L. M., Ahn, E-Y. E., University of Washington Center for Mendelian Genomics & Deciphering Developmental Disorders Study, 01.09.2016, In: AM J HUM GENET. 99, 3, p. 711-9 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  36. Hyperinsulinism-hyperammonemia Syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature

    Ninković, D., Sarnavka, V., Bašnec, A., Ćuk, M., Ramadža, D. P., Fumić, K., Kušec, V., Santer, R. & Barić, I., 01.09.2016, In: J PEDIATR ENDOCR MET. 29, 9, p. 1083-8

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  37. Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients

    Groeschel, S., Kühl, J-S., Bley, A. E., Kehrer, C., Weschke, B., Döring, M., Böhringer, J., Schrum, J., Santer, R., Kohlschütter, A., Krägeloh-Mann, I. & Müller, I., 01.09.2016, In: JAMA NEUROL. 73, 9, p. 1133-40

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  38. Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7

    Jankowiak, W., Brandenstein, L., Dulz, S., Hagel, C., Storch, S. & Bartsch, U., 01.09.2016, In: INVEST OPHTH VIS SCI. 57, 11, p. 4989-4998 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  39. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

    Fietz, M., AlSayed, M., Burke, D., Cohen-Pfeffer, J., Cooper, J. D., Dvořáková, L., Giugliani, R., Izzo, E., Jahnová, H., Lukacs, Z., Mole, S. E., Noher de Halac, I., Pearce, D. A., Poupetova, H., Schulz, A., Specchio, N., Xin, W. & Miller, N., 09.2016, In: MOL GENET METAB. 119, 1-2, p. 160-7

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  40. Genetic cause and prevalence of hydroxyprolinemia

    Staufner, C., Haack, T. B., Feyh, P., Gramer, G., Raga, D. E., Terrile, C., Sauer, S., Okun, J. G., Fang-Hoffmann, J., Mayatepek, E., Prokisch, H., Hoffmann, G. F. & Kölker, S., 09.2016, In: J INHERIT METAB DIS. 39, 5, p. 625-632 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  41. Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

    Kar, S. P., Beesley, J., Amin Al Olama, A., Michailidou, K., Tyrer, J., Kote-Jarai, ZS., Lawrenson, K., Lindstrom, S., Ramus, S. J., Thompson, D. J., Kibel, A. S., Dansonka-Mieszkowska, A., Michael, A., Dieffenbach, A. K., Gentry-Maharaj, A., Whittemore, A. S., Wolk, A., Monteiro, A., Peixoto, A., Kierzek, A., Cox, A., Rudolph, A., Gonzalez-Neira, A., Wu, A. H., Lindblom, A., Swerdlow, A., Ziogas, A., Ekici, A. B., Burwinkel, B., Karlan, B. Y., Nordestgaard, B. G., Blomqvist, C., Phelan, C., McLean, C., Pearce, C. L., Vachon, C., Cybulski, C., Slavov, C., Stegmaier, C., Maier, C., Ambrosone, C. B., Høgdall, C. K., Teerlink, C. C., Kang, D., Tessier, D. C., Schaid, D. J., Stram, D. O., Cramer, D. W., Neal, D. E., Eccles, D., Flesch-Janys, D., Edwards, D. R. V., Wokozorczyk, D., Levine, D. A., Yannoukakos, D., Sawyer, E. J., Bandera, E. V., Poole, E. M., Goode, E. L., Khusnutdinova, E., Høgdall, E., Song, F., Bruinsma, F., Heitz, F., Modugno, F., Hamdy, F. C., Wiklund, F., Giles, G. G., Olsson, H., Wildiers, H., Ulmer, H-U., Pandha, H., Risch, H. A., Darabi, H., Salvesen, H. B., Nevanlinna, H., Gronberg, H., Brenner, H., Brauch, H., Anton-Culver, H., Song, H., Lim, H-Y., McNeish, I., Campbell, I., Vergote, I., Gronwald, J., Lubiński, J., Stanford, J. L., Benítez, J., Doherty, J. A., Permuth, J. B., Chang-Claude, J., Donovan, J. L., Dennis, J., Schildkraut, J. M., Schleutker, J., Hopper, J. L., Kupryjanczyk, J., Park, J. Y., Figueroa, J., Clements, J. A., Knight, J. A., Peto, J., Cunningham, J. M., Pow-Sang, J., Batra, J., Czene, K., Lu, K. H., Herkommer, K., Khaw, K-T., Matsuo, K., Muir, K., Offitt, K., Chen, K., Moysich, K. B., Aittomäki, K., Odunsi, K., Kiemeney, L. A., Massuger, L. F. A. G., Fitzgerald, L. M., Cook, L. S., Cannon-Albright, L., Hooning, M. J., Pike, M. C., Bolla, M. K., Luedeke, M., Teixeira, M. R., Goodman, M. T., Schmidt, M. K., Riggan, M., Aly, M., Rossing, M. A., Beckmann, M. W., Moisse, M., Sanderson, M., Southey, M. C., Jones, M., Lush, M., Hildebrandt, M. A. T., Hou, M-F., Schoemaker, M. J., Garcia-Closas, M., Bogdanova, N., Rahman, N., Le, N. D., Orr, N., Wentzensen, N., Pashayan, N., Peterlongo, P., Guénel, P., Brennan, P., Paulo, P., Webb, P. M., Broberg, P., Fasching, P. A., Devilee, P., Wang, Q., Cai, Q., Li, Q., Kaneva, R., Butzow, R., Kopperud, R. K., Schmutzler, R. K., Stephenson, R. A., MacInnis, R. J., Hoover, R. N., Winqvist, R., Ness, R., Milne, R. L., Travis, R. C., Benlloch, S., Olson, S. H., McDonnell, S. K., Tworoger, S. S., Maia, S., Berndt, S., Lee, S. C., Teo, S-H., Thibodeau, S. N., Bojesen, S. E., Gapstur, S. M., Kjær, S. K., Pejovic, T., Tammela, T. L. J., Dörk, T., Brüning, T., Wahlfors, T., Key, T. J., Edwards, T. L., Menon, U., Hamann, U., Mitev, V., Kosma, V-M., Setiawan, V. W., Kristensen, V., Arndt, V., Vogel, W., Zheng, W., Sieh, W., Blot, W. J., Kluzniak, W., Shu, X-O., Gao, Y-T., Schumacher, F., Freedman, M. L., Berchuck, A., Dunning, A. M., Simard, J., Haiman, C. A., Spurdle, A., Sellers, T. A., Hunter, D. J., Henderson, B. E., Kraft, P., Chanock, S. J., Couch, F. J., Hall, P., Gayther, S. A., Easton, D. F., Chenevix-Trench, G., Eeles, R., Pharoah, P. D. P., Lambrechts, D. & ABCTB Investigators, 09.2016, In: CANCER DISCOV. 6, 9, p. 1052-67 16 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  42. Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome

    Sentner, C. P., Hoogeveen, I. J., Weinstein, D. A., Santer, R., Murphy, E., McKiernan, P. J., Steuerwald, U., Beauchamp, N. J., Taybert, J., Laforêt, P., Petit, F. M., Hubert, A., Labrune, P., Smit, G. P. A. & Derks, T. G. J., 09.2016, In: J INHERIT METAB DIS. 39, 5, p. 697-704 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  43. Mannose 6-phosphate-dependent targeting of lysosomal enzymes is required for normal craniofacial and dental development

    Koehne, T., Markmann, S., Schweizer, M., Muschol, N., Friedrich, R. E., Hagel, C., Glatzel, M., Kahl-Nieke, B., Amling, M., Schinke, T. & Braulke, T., 09.2016, In: BBA-MOL BASIS DIS. 1862, 9, p. 1570–1580

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  44. SY 13-3 DISTRIBUTION OF 24-H AMBULATORY BLOOD PRESSURE IN CHILDREN

    Oh, J., 09.2016, In: J HYPERTENS. 34 Suppl 1 - ISH 2016 Abstract Book, p. e368

    Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review

  45. Two Cases of Hepatosplenic T-Cell Lymphoma in Adolescents Treated for Autoimmune Hepatitis

    Brinkert, F., Arrenberg, P., Krech, T., Grabhorn, E., Lohse, A. & Schramm, C., 09.2016, In: PEDIATRICS. 138, 3, p. e20154245

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  46. S-Adenosylhomocysteine alters methylation of cellular RNA

    Barroso, M., 11.08.2016, In: J INHERIT METAB DIS. 39, S1

    Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review

  47. Homooligomerization of ABCA3 and its functional significance

    Frixel, S., Lotz-Havla, A. S., Kern, S., Kaltenborn, E., Wittmann, T., Gersting, S. W., Muntau, A. C., Zarbock, R. & Griese, M., 08.2016, In: INT J MOL MED. 38, 2, p. 558-66 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  48. Surgical complications after peritoneal dialysis catheter implantation depend on children's weight

    Radtke, J., Lemke, A., Kemper, M. J., Nashan, B. & Koch, M., 08.2016, In: J PEDIATR SURG. 51, 8, p. 1317-20 4 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  49. Transcriptomic and metabolic analyses reveal salvage pathways in creatine-deficient AGAT(-/-) mice

    Stockebrand, M., Nejad, A. S., Neu, A., Kharbanda, K. K., Sauter, K., Schillemeit, S., Isbrandt, D. & Choe, C-U., 08.2016, In: AMINO ACIDS. 48, 8, p. 2025-39 15 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  50. Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome

    Rensing-Ehl, A., Allgäuer, A., Schreiner, E., Lorenz, M. R., Rohr, J., Klemann, C., Fuchs, I., Schuster, V., von Bueren, A. O., Naumann-Bartsch, N., Gambineri, E., Siepermann, K., Kobbe, R., Nathrath, M., Arkwright, P. D., Miano, M., Stachel, K-D., Metzler, M., Schwarz, K., Kremer, A. N., Speckmann, C., Ehl, S. & Mackensen, A., 14.07.2016, In: BLOOD. 128, 2, p. 227-38 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  51. Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation

    Schmidt, M., Breyer, S., Löbel, U., Yarar, S., Stücker, R., Ullrich, K., Müller, I. & Muschol, N., 10.07.2016, In: ORPHANET J RARE DIS. 11, 1, p. 93

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  52. Metachromatic Leukodystrophy: An Assessment of Disease Burden

    Eichler, F. S., Cox, T. M., Crombez, E., Dali, C. Í. & Kohlschütter, A., 07.07.2016, In: J CHILD NEUROL. 31, 13, p. 1457-1463

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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