Zerres K - Search Results

1

Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21.

Grohmann K, Wienker TF, Saar K, Rudnik-Schöneborn S, Stoltenburg-Didinger G, Rossi R, Novelli G, Nürnberg G, Pfeufer A, Wirth B, Reis A, Zerres K, Hübner C. Grohmann K, et al. Among authors: zerres k. Am J Hum Genet. 1999 Nov;65(5):1459-62. doi: 10.1086/302636. Am J Hum Genet. 1999. PMID: 10521314 Free PMC article. No abstract available.

2

Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy.

Rudnik-Schöneborn S, Wirth B, Zerres K. Rudnik-Schöneborn S, et al. Among authors: zerres k. Am J Hum Genet. 1994 Jul;55(1):112-9. Am J Hum Genet. 1994. PMID: 8023839 Free PMC article.

3

Autosomal recessive polycystic kidney disease does not map to the second gene locus for autosomal dominant polycystic kidney disease on chromosome 4.

Zerres K, Mücher G, Rudnik-Schöneborn S. Zerres K, et al. Hum Genet. 1994 Jun;93(6):697-8. doi: 10.1007/BF00201574. Hum Genet. 1994. PMID: 8005596

4

Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications.

Rudnik-Schöneborn S, Röhrig D, Morgan G, Wirth B, Zerres K. Rudnik-Schöneborn S, et al. Among authors: zerres k. Am J Med Genet. 1994 May 15;51(1):70-6. doi: 10.1002/ajmg.1320510115. Am J Med Genet. 1994. PMID: 8030672

5

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.

Hahnen E, Forkert R, Marke C, Rudnik-Schöneborn S, Schönling J, Zerres K, Wirth B. Hahnen E, et al. Among authors: zerres k. Hum Mol Genet. 1995 Oct;4(10):1927-33. doi: 10.1093/hmg/4.10.1927. Hum Mol Genet. 1995. PMID: 8595417

6

Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.

Hahnen E, Schönling J, Rudnik-Schöneborn S, Zerres K, Wirth B. Hahnen E, et al. Among authors: zerres k. Am J Hum Genet. 1996 Nov;59(5):1057-65. Am J Hum Genet. 1996. PMID: 8900234 Free PMC article.

7

Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations.

Rudnik-Schöneborn S, Zerres K, Hahnen E, Meng G, Voit T, Hanefeld F, Wirth B. Rudnik-Schöneborn S, et al. Among authors: zerres k. Am J Hum Genet. 1996 Nov;59(5):1163-5. Am J Hum Genet. 1996. PMID: 8900246 Free PMC article. No abstract available.

8

Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases.

Spranger S, Rudnik-Schöneborn S, Spranger M, Schächtele M, Zerres K, Wirth B. Spranger S, et al. Among authors: zerres k. J Med Genet. 1997 Apr;34(4):340-2. doi: 10.1136/jmg.34.4.340. J Med Genet. 1997. PMID: 9138162 Free PMC article.

9

Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

Hahnen E, Schönling J, Rudnik-Schöneborn S, Raschke H, Zerres K, Wirth B. Hahnen E, et al. Among authors: zerres k. Hum Mol Genet. 1997 May;6(5):821-5. doi: 10.1093/hmg/6.5.821. Hum Mol Genet. 1997. PMID: 9158159

10

Spinal muscular atrophy--clinical and genetic correlations.

Zerres K, Wirth B, Rudnik-Schöneborn S. Zerres K, et al. Neuromuscul Disord. 1997 May;7(3):202-7. doi: 10.1016/s0960-8966(97)00459-8. Neuromuscul Disord. 1997. PMID: 9185186 Review.

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