Koehler K - Search Results

1

A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.

Koehler K, Milev MP, Prematilake K, Reschke F, Kutzner S, Jühlen R, Landgraf D, Utine E, Hazan F, Diniz G, Schuelke M, Huebner A, Sacher M. Koehler K, et al. J Med Genet. 2017 Mar;54(3):176-185. doi: 10.1136/jmedgenet-2016-104108. Epub 2016 Oct 5. J Med Genet. 2017. PMID: 27707803

2

A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.

Vorgerd M, van der Ven PF, Bruchertseifer V, Löwe T, Kley RA, Schröder R, Lochmüller H, Himmel M, Koehler K, Fürst DO, Huebner A. Vorgerd M, et al. Among authors: koehler k. Am J Hum Genet. 2005 Aug;77(2):297-304. doi: 10.1086/431959. Epub 2005 May 31. Am J Hum Genet. 2005. PMID: 15929027 Free PMC article.

3

Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures.

Kaindl AM, Jakubiczka S, Lücke T, Bartsch O, Weis J, Stoltenburg-Didinger G, Aksu F, Oexle K, Koehler K, Huebner A. Kaindl AM, et al. Among authors: koehler k. Hum Mutat. 2005 Sep;26(3):279-80. doi: 10.1002/humu.9357. Hum Mutat. 2005. PMID: 16088906

4

Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome.

Huebner A, Mann P, Rohde E, Kaindl AM, Witt M, Verkade P, Jakubiczka S, Menschikowski M, Stoltenburg-Didinger G, Koehler K. Huebner A, et al. Among authors: koehler k. Mol Cell Biol. 2006 Mar;26(5):1879-87. doi: 10.1128/MCB.26.5.1879-1887.2006. Mol Cell Biol. 2006. PMID: 16479006 Free PMC article.

5

A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome.

Dusek T, Korsic M, Koehler K, Perkovic Z, Huebner A, Korsic M. Dusek T, et al. Among authors: koehler k. Horm Res. 2006;65(4):171-6. doi: 10.1159/000092003. Epub 2006 Mar 15. Horm Res. 2006. PMID: 16543750

6

Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.

Keegan CE, Hutz JE, Krause AS, Koehler K, Metherell LA, Boikos S, Stergiopoulos S, Clark AJ, Stratakis CA, Huebner A, Hammer GD. Keegan CE, et al. Among authors: koehler k. Clin Endocrinol (Oxf). 2007 Aug;67(2):168-74. doi: 10.1111/j.1365-2265.2007.02855.x. Epub 2007 Apr 27. Clin Endocrinol (Oxf). 2007. PMID: 17466001 Free article.

7

Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation.

Milenković T, Koehler K, Krumbholz M, Zivanović S, Zdravković D, Huebner A. Milenković T, et al. Among authors: koehler k. Eur J Pediatr. 2008 Sep;167(9):1049-55. doi: 10.1007/s00431-007-0640-7. Epub 2008 Jan 3. Eur J Pediatr. 2008. PMID: 18172684

8

Familial glucocorticoid deficiency type 1 due to a novel compound heterozygous MC2R mutation.

Mazur A, Koehler K, Schuelke M, Skunde M, Ostański M, Huebner A. Mazur A, et al. Among authors: koehler k. Horm Res. 2008;69(6):363-8. doi: 10.1159/000117393. Epub 2008 Mar 17. Horm Res. 2008. PMID: 18504396

9

Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome.

Toromanovic A, Tahirovic H, Milenkovic T, Koehler K, Kind B, Zdravkovic D, Hasanhodzic M, Huebner A. Toromanovic A, et al. Among authors: koehler k. Eur J Pediatr. 2009 Mar;168(3):317-20. doi: 10.1007/s00431-008-0758-2. Epub 2008 Jun 13. Eur J Pediatr. 2009. PMID: 18551317

10

Triple A syndrome mimicking ALS.

Strauss M, Koehler K, Krumbholz M, Huebner A, Zierz S, Deschauer M. Strauss M, et al. Among authors: koehler k. Amyotroph Lateral Scler. 2008 Oct;9(5):315-7. doi: 10.1080/17482960802259016. Amyotroph Lateral Scler. 2008. PMID: 18615337

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