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Article

Heterozygous missense variant in GLI2 impairs human endocrine pancreas development.
Mueller, L.M., Isaacson, A., Wilson, H., Salowka, A., Tay, I., Gong, M., Samir Elbarbary, N., Raile, K. and Spagnoli, F.M.
Nature Communications 15 (1): 2483. 20 March 2024

Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation.
Su, X., Feng, Y., Rahman, S.A., Wu, S., Li, G., Rüschendorf, F., Zhao, L., Cui, H., Liang, J., Fang, L., Hu, H., Froehler, S., Yu, Y., Patone, G., Hummel, O., Chen, Q., Raile, K., Luft, F.C., Bähring, S., Hussain, K., Chen, W., 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., Neukam, M., Tattikota, S.G., Qadri, F., Puchkov, D., Willmes, D.M., Wurmsee, S., Geisberger, S., Dechend, R., Raile, K., Kurth, T., Nguyen, G., Poy, M.N., Solimena, M., 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., Khajavi, N., Kleinau, G., Teumer, A., Scheerer, P., Homuth, G., Völzke, H., Wiegand, S., Kühnen, P., Krude, H., Gong, M., 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., Yu, Y., Liang, L., Vuralli, D., Froehler, S., Kuehnen, P., Du Bois, P., Zhang, J., Cao, A., Liu, Y., Hussain, K., Fielitz, J., Jia, S., 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., Dinter, J., Jyrch, S., Teumer, A., Jacobi, S.F., Homuth, G., Kuehnen, P., Wiegand, S., Grueters, A., Voelzke, H., Raile, K., Kleinau, G., 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., Buerger-Buesing, J., Danne, T., Dost, A., Holder, M., Holl, R.W., Holterhus, P.M., Kapellen, T., Karges, B., Kordonouri, O., Mueller, S., Raile, K., Schweizer, R., von Sengbusch, S., Stachow, R., Wagner, V., 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., Schober, E., Konrad, K., Thon, A., Grulich-Henn, J., Meissner, T., Woelfle, J., 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., Matthae, R., Arya, V., Hauptmann, K., Rothe, K., Waechter, S., Singer, M., Mohnike, W., Eberhard, T., Raile, K., Lauffer, L.M., Iakoubov, R., 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., Raile, K., Froehlich-Reiterer, E., Kapellen, T., Dost, A., Rosenbauer, J., 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., Kofent, J., Gong, M., Rüschendorf, F., Jia, S., Arn, P., Bentler, K., Ellaway, C., Kühnen, P., Hoffmann, G.F., Blau, N., Spagnoli, F.M., 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., Molz, E., Krebs, A., Bechtold, S., Kapellen, T., Rohrer, T., Raile, K., Fritsch, M., 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., 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., Blaschek, A., Raile, K., Dost, A., Freiberg, C., Askenas, M., Froehlich-Reiterer, E., 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., Bokelmann, J., Riepe, F., Heidtmann, B., Wagner, V., Rami-Merhar, B., Kapellen, T., Raile, K., 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., Simaite, D., Kühnen, P., Heldmann, M., Spagnoli, F., Blankenstein, O., Hübner, N., 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., Marquard, J., Ernert, A., Meissner, T., Raile, K., 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., Haberland, H., Naeke, A., Hofer, S., Holder, M., 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., Holder, M., Rami, B., Raile, K., 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., Lindau, M., Ernert, A., 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., O'Connell, M., Galler, A., Werther, G., Kuehnen, P., 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., Kerner, W., Hofer, S., Kordonouri, O., 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., Laubner, K., Raile, K., Schoefl, C., Jakob, F., Pilz, I., 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., Thon, A., Raile, K., Grulich-Henn, J., Meissner, T., Schober, E. and Holl, R.W.
European Journal of Endocrinology 164 (4): 513-520. April 2011