Kubisch C - Search Results

1

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.

Chung BD, Kayserili H, Ai M, Freudenberg J, Uzümcü A, Uyguner O, Bartels CF, Höning S, Ramirez A, Hanisch FG, Nürnberg G, Nürnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C. Chung BD, et al. Among authors: kubisch c. Hum Mutat. 2009 Apr;30(4):641-8. doi: 10.1002/humu.20916. Hum Mutat. 2009. PMID: 19177549

2

Hormonal induction of an immediate-early gene response in myogenic cell lines--a paradigm for heart growth.

Maass A, Grohé C, Kubisch C, Wollnik B, Vetter H, Neyses L. Maass A, et al. Among authors: kubisch c. Eur Heart J. 1995 May;16 Suppl C:12-4. doi: 10.1093/eurheartj/16.suppl_c.12. Eur Heart J. 1995. PMID: 7556264

3

Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations.

Wollnik B, Kubisch C, Steinmeyer K, Pusch M. Wollnik B, et al. Among authors: kubisch c. Hum Mol Genet. 1997 May;6(5):805-11. doi: 10.1093/hmg/6.5.805. Hum Mol Genet. 1997. PMID: 9158157

4

Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.

Wollnik B, Schroeder BC, Kubisch C, Esperer HD, Wieacker P, Jentsch TJ. Wollnik B, et al. Among authors: kubisch c. Hum Mol Genet. 1997 Oct;6(11):1943-9. doi: 10.1093/hmg/6.11.1943. Hum Mol Genet. 1997. PMID: 9302275

5

Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation.

Kubisch C, Wicklein EM, Jentsch TJ. Kubisch C, et al. Hum Mutat. 1998;12(1):27-32. doi: 10.1002/(SICI)1098-1004(1998)12:1<27::AID-HUMU4>3.0.CO;2-#. Hum Mutat. 1998. PMID: 9633816

6

Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family.

Waldegger S, Moschen I, Ramirez A, Smith RJ, Ayadi H, Lang F, Kubisch C. Waldegger S, et al. Among authors: kubisch c. Genomics. 2001 Feb 15;72(1):43-50. doi: 10.1006/geno.2000.6445. Genomics. 2001. PMID: 11247665

7

Characterization of ADAMTS14, a novel member of the ADAMTS metalloproteinase family.

Bolz H, Ramírez A, von Brederlow B, Kubisch C. Bolz H, et al. Among authors: kubisch c. Biochim Biophys Acta. 2001 Dec 30;1522(3):221-5. doi: 10.1016/s0167-4781(01)00329-3. Biochim Biophys Acta. 2001. PMID: 11779638

8

Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis.

Ramírez A, Faupel J, Goebel I, Stiller A, Beyer S, Stöckle C, Hasan C, Bode U, Kornak U, Kubisch C. Ramírez A, et al. Among authors: kubisch c. Hum Mutat. 2004 May;23(5):471-6. doi: 10.1002/humu.20028. Hum Mutat. 2004. PMID: 15108279

9

Rare missense variants in ATP1A2 in families with clustering of common forms of migraine.

Todt U, Dichgans M, Jurkat-Rott K, Heinze A, Zifarelli G, Koenderink JB, Goebel I, Zumbroich V, Stiller A, Ramirez A, Friedrich T, Göbel H, Kubisch C. Todt U, et al. Among authors: kubisch c. Hum Mutat. 2005 Oct;26(4):315-21. doi: 10.1002/humu.20229. Hum Mutat. 2005. PMID: 16110494

10

Cannabinoid receptor type 2 gene is associated with human osteoporosis.

Karsak M, Cohen-Solal M, Freudenberg J, Ostertag A, Morieux C, Kornak U, Essig J, Erxlebe E, Bab I, Kubisch C, de Vernejoul MC, Zimmer A. Karsak M, et al. Among authors: kubisch c. Hum Mol Genet. 2005 Nov 15;14(22):3389-96. doi: 10.1093/hmg/ddi370. Epub 2005 Oct 4. Hum Mol Genet. 2005. PMID: 16204352

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