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Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation.
Su, X. and Feng, Y. and Rahman, S.A. and Wu, S. and Li, G. and Rüschendorf, F. and Zhao, L. and Cui, H. and Liang, J. and Fang, L. and Hu, H. and Froehler, S. and Yu, Y. and Patone, G. and Hummel, O. and Chen, Q. and Raile, K. and Luft, F.C. and Bähring, S. and Hussain, K. and Chen, W. and Zhang, J. and Gong, M.
Journal of Genetics and Genomics 47 (10): 618-626. 20 October 2020


Atp6ap2 deletion causes extensive vacuolation that consumes the insulin content of pancreatic β cells.
Binger, K.J. and Neukam, M. and Tattikota, S.G. and Qadri, F. and Puchkov, D. and Willmes, D.M. and Wurmsee, S. and Geisberger, S. and Dechend, R. and Raile, K. and Kurth, T. and Nguyen, G. and Poy, M.N. and Solimena, M. and Muller, D.N. and Birkenfeld, A.L.
Proceedings of the National Academy of Sciences of the United States of America 116 (40): 19983-19988. 1 October 2019

Evaluation of a rare glucose-dependent insulinotropic polypeptide receptor variant in a patient with diabetes.
Jacobi, S.F. and Khajavi, N. and Kleinau, G. and Teumer, A. and Scheerer, P. and Homuth, G. and Völzke, H. and Wiegand, S. and Kühnen, P. and Krude, H. and Gong, M. and Raile, K. and Biebermann, H.
Diabetes Obesity and Metabolism 21 (5): 1168-1176. May 2019

HDAC4 mutations cause diabetes and induce β-cell FoxO1 nuclear exclusion.
Gong, M. and Yu, Y. and Liang, L. and Vuralli, D. and Froehler, S. and Kuehnen, P. and Du Bois, P. and Zhang, J. and Cao, A. and Liu, Y. and Hussain, K. and Fielitz, J. and Jia, S. and Chen, W. and Raile, K.
Molecular Genetics & Genomic Medicine 7 (5): e602. May 2019


Investigation of naturally occurring single-nucleotide variants in human TAAR1.
Muehlhaus, J. and Dinter, J. and Jyrch, S. and Teumer, A. and Jacobi, S.F. and Homuth, G. and Kuehnen, P. and Wiegand, S. and Grueters, A. and Voelzke, H. and Raile, K. and Kleinau, G. and Krude, H. and Biebermann, H.
Frontiers in Pharmacology 8 : 807. 24 November 2017


Diagnostik, Therapie und Verlaufskontrolle des Diabetes mellitus im Kindes- und Jugendalter - AWMF-Registernummer 057-016 [Diagnosis, therapy and follow-up of diabetes mellitus in children and adolescents - AWMF-Registry-Number 057-016].
Neu, A. and Buerger-Buesing, J. and Danne, T. and Dost, A. and Holder, M. and Holl, R.W. and Holterhus, P.M. and Kapellen, T. and Karges, B. and Kordonouri, O. and Mueller, S. and Raile, K. and Schweizer, R. and von Sengbusch, S. and Stachow, R. and Wagner, V. and Wiegand, S. and Ziegler, R.
Diabetologie und Stoffwechsel 11 (1): 35-94. 25 February 2016


Treatment of young patients with HNF1A mutations (HNF1A-MODY).
Raile, K. and Schober, E. and Konrad, K. and Thon, A. and Grulich-Henn, J. and Meissner, T. and Woelfle, J. and Scheuing, N. and Holl, R.W.
Diabetic Medicine 32 (4): 526-530. April 2015


Occurrence of giant focal forms of congenital hyperinsulinism with incorrect visualization by (18)F DOPA-PET/CT scanning.
Kuehnen, P. and Matthae, R. and Arya, V. and Hauptmann, K. and Rothe, K. and Waechter, S. and Singer, M. and Mohnike, W. and Eberhard, T. and Raile, K. and Lauffer, L.M. and Iakoubov, R. and Hussain, K. and Blankenstein, O.
Clinical Endocrinology 81 (6): 847-854. December 2014

Tracking of metabolic control from childhood to young adulthood in type 1 diabetes.
Hofer, S.E. and Raile, K. and Froehlich-Reiterer, E. and Kapellen, T. and Dost, A. and Rosenbauer, J. and Grulich-Henn, J. and Holl, R.W.
Journal of Pediatrics 165 (5): 956-961.e2. November 2014

Recessive mutations in PCBD1 cause a new type of early-onset diabetes.
Simaite, D. and Kofent, J. and Gong, M. and Rüschendorf, F. and Jia, S. and Arn, P. and Bentler, K. and Ellaway, C. and Kühnen, P. and Hoffmann, G.F. and Blau, N. and Spagnoli, F.M. and Hübner, N. and Raile, K.
Diabetes 63 (10): 3557-3564. October 2014

Pulse pressure in children and adolescents with type 1 diabetes mellitus in Germany and Austria.
Dost, A. and Molz, E. and Krebs, A. and Bechtold, S. and Kapellen, T. and Rohrer, T. and Raile, K. and Fritsch, M. and Schwab, K.O. and Holl, R.
Pediatric Diabetes 15 (3): 236-243. May 2014

Meglitinide analogues in adolescent patients with HNF1A-MODY (MODY 3).
Becker, M. and Galler, A. and Raile, K.
Pediatrics 133 (3): e775-e779. 1 March 2014

Higher relative risk for multiple sclerosis in a pediatric and adolescent diabetes population: analysis from DPV data base.
Bechtold, S. and Blaschek, A. and Raile, K. and Dost, A. and Freiberg, C. and Askenas, M. and Froehlich-Reiterer, E. and Molz, E. and Holl, R.W.
Diabetes Care 37 (1): 96-101. January 2014


Predicting the optimal Basal insulin infusion pattern in children and adolescents on insulin pumps.
Holterhus, P.M. and Bokelmann, J. and Riepe, F. and Heidtmann, B. and Wagner, V. and Rami-Merhar, B. and Kapellen, T. and Raile, K. and Quester, W. and Holl, R.W.
Diabetes Care 36 (6): 1507-1511. June 2013

Two novel GATA6 mutations cause childhood-onset diabetes mellitus, pancreas malformation and congenital heart disease.
Gong, M. and Simaite, D. and Kühnen, P. and Heldmann, M. and Spagnoli, F. and Blankenstein, O. and Hübner, N. and Hussain, K. and Raile, K.
Hormone Research in Paediatrics 79 (4): 250-256. May 2013


Long-term lanreotide treatment in six patients with congenital hyperinsulinism.
Kuehnen, P. and Marquard, J. and Ernert, A. and Meissner, T. and Raile, K. and Wannenmacher, G. and Blankenstein, O.
Hormone Research in Paediatrics 78 (2): 106-112. September 2012

Natural course of untreated microalbuminuria in children and adolescents with type 1 diabetes and the importance of diabetes duration and immigrant status: longitudinal analysis from the prospective nationwide German and Austrian diabetes survey DPV.
Galler, A. and Haberland, H. and Naeke, A. and Hofer, S. and Holder, M. and Raile, K. and Holl, R.W.
European Journal of Endocrinology 166 (3): 493-501. March 2012

Continuous glucose monitoring in children, adolescents, and adults with type 1 diabetes mellitus: analysis from the prospective DPV diabetes documentation and quality management system from Germany and Austria.
Ludwig-Seibold, C.U. and Holder, M. and Rami, B. and Raile, K. and Heidtmann, B. and Holl, R.W.
Pediatric Diabetes 13 (1): 12-14. February 2012


Associations between media consumption habits, physical activity, socioeconomic status, and glycemic control in children, adolescents, and young adults with type 1 diabetes.
Galler, A. and Lindau, M. and Ernert, A. and Thalemann, R. and Raile, K.
Diabetes Care 34 (11): 2356-2359. November 2011

Diabetes caused by insulin gene (INS) deletion: clinical characteristics of homozygous and heterozygous individuals.
Raile, K. and O'Connell, M. and Galler, A. and Werther, G. and Kuehnen, P. and Krude, H. and Blankenstein, O.
European Journal of Endocrinology 165 (2): 255-260. August 2011

Diabetic retinopathy in type 1 diabetes-a contemporary analysis of 8,784 patients.
Hammes, H.P. and Kerner, W. and Hofer, S. and Kordonouri, O. and Raile, K. and Holl, R.W.
Diabetologia 54 (8): 1977-84. August 2011

Protein phosphatase 1 (PP-1)-dependent inhibition of insulin secretion by leptin in INS-1 pancreatic β-cells and human pancreatic islets.
Kuehnen, P. and Laubner, K. and Raile, K. and Schoefl, C. and Jakob, F. and Pilz, I. and Paeth, G. and Seufert, J.
Endocrinology 152 (5): 1800-1808. May 2011

Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database.
Awa, W.L. and Thon, A. and Raile, K. and Grulich-Henn, J. and Meissner, T. and Schober, E. and Holl, R.W.
European Journal of Endocrinology 164 (4): 513-520. April 2011

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