Koch MC - Search Results

1

A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin.

Malik S, Arshad M, Amin-Ud-Din M, Oeffner F, Dempfle A, Haque S, Koch MC, Ahmad W, Grzeschik KH. Malik S, et al. Among authors: koch mc. Am J Med Genet A. 2004 Apr 1;126A(1):61-7. doi: 10.1002/ajmg.a.20555. Am J Med Genet A. 2004. PMID: 15039974

2

Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3.

Malik S, Percin FE, Ahmad W, Percin S, Akarsu NA, Koch MC, Grzeschik KH. Malik S, et al. Among authors: koch mc. Am J Med Genet A. 2005 May 1;134(4):404-8. doi: 10.1002/ajmg.a.30656. Am J Med Genet A. 2005. PMID: 15779011

3

Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31.

Malik S, Schott J, Ali SW, Oeffner F, Amin-ud-Din M, Ahmad W, Grzeschik KH, Koch MC. Malik S, et al. Among authors: koch mc. Eur J Hum Genet. 2005 Dec;13(12):1268-74. doi: 10.1038/sj.ejhg.5201492. Eur J Hum Genet. 2005. PMID: 16189548

4

Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences.

Malik S, Girisha KM, Wajid M, Roy AK, Phadke SR, Haque S, Ahmad W, Koch MC, Grzeschik KH. Malik S, et al. Among authors: koch mc. BMC Med Genet. 2007 Dec 11;8:78. doi: 10.1186/1471-2350-8-78. BMC Med Genet. 2007. PMID: 18072967 Free PMC article.

5

A simple method for characterising syndactyly in clinical practice.

Malik S, Ahmad W, Grzeschik KH, Koch MC. Malik S, et al. Among authors: koch mc. Genet Couns. 2005;16(3):229-38. Genet Couns. 2005. PMID: 16261692

6

Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12.

Malik S, Abbasi AA, Ansar M, Ahmad W, Koch MC, Grzeschik KH. Malik S, et al. Among authors: koch mc. Clin Genet. 2006 Jun;69(6):518-24. doi: 10.1111/j.1399-0004.2006.00620.x. Clin Genet. 2006. PMID: 16712704

7

Fifth finger camptodactyly maps to chromosome 3q11.2-q13.12 in a large German kindred.

Malik S, Schott J, Schiller J, Junge A, Baum E, Koch MC. Malik S, et al. Among authors: koch mc. Eur J Hum Genet. 2008 Feb;16(2):265-9. doi: 10.1038/sj.ejhg.5201957. Epub 2007 Nov 14. Eur J Hum Genet. 2008. PMID: 18000522

8

Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.

Malik S, Percin FE, Bornholdt D, Albrecht B, Percesepe A, Koch MC, Landi A, Fritz B, Khan R, Mumtaz S, Akarsu NA, Grzeschik KH. Malik S, et al. Among authors: koch mc. Am J Hum Genet. 2014 Dec 4;95(6):649-59. doi: 10.1016/j.ajhg.2014.10.012. Epub 2014 Nov 13. Am J Hum Genet. 2014. PMID: 25466284 Free PMC article.

9

The molecular genetic approach to "Bartter's syndrome".

Károlyi L, Koch MC, Grzeschik KH, Seyberth HW. Károlyi L, et al. Among authors: koch mc. J Mol Med (Berl). 1998 Apr;76(5):317-25. doi: 10.1007/s001090050223. J Mol Med (Berl). 1998. PMID: 9587066 Review.

10

Novel interaction partners of Bardet-Biedl syndrome proteins.

Oeffner F, Moch C, Neundorf A, Hofmann J, Koch M, Grzeschik KH. Oeffner F, et al. Cell Motil Cytoskeleton. 2008 Feb;65(2):143-55. doi: 10.1002/cm.20250. Cell Motil Cytoskeleton. 2008. PMID: 18000879

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