Koehler K - Search Results

1

Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family.

Quitter F, Flury M, Waldmueller S, Schubert T, Koehler K, Huebner A. Quitter F, et al. Among authors: koehler k. J Pediatr Endocrinol Metab. 2022 Aug 9;35(11):1443-1447. doi: 10.1515/jpem-2022-0287. Print 2022 Nov 25. J Pediatr Endocrinol Metab. 2022. PMID: 35942587

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

Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe.

Koehler K, Brockmann K, Krumbholz M, Kind B, Bönnemann C, Gärtner J, Huebner A. Koehler K, et al. Eur J Hum Genet. 2008 Dec;16(12):1499-506. doi: 10.1038/ejhg.2008.132. Epub 2008 Jul 16. Eur J Hum Genet. 2008. PMID: 18628786

10

The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope.

Kind B, Koehler K, Lorenz M, Huebner A. Kind B, et al. Among authors: koehler k. Biochem Biophys Res Commun. 2009 Dec 11;390(2):205-10. doi: 10.1016/j.bbrc.2009.09.080. Epub 2009 Sep 24. Biochem Biophys Res Commun. 2009. PMID: 19782045

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