Wirth B - Search Results

1

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.

Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C. Becker J, et al. Among authors: wirth b. Am J Hum Genet. 2011 Mar 11;88(3):362-71. doi: 10.1016/j.ajhg.2011.01.015. Epub 2011 Feb 25. Am J Hum Genet. 2011. PMID: 21353196 Free PMC article.

2

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.

Wirth B, Hahnen E, Morgan K, DiDonato CJ, Dadze A, Rudnik-Schöneborn S, Simard LR, Zerres K, Burghes AH. Wirth B, et al. Hum Mol Genet. 1995 Aug;4(8):1273-84. doi: 10.1093/hmg/4.8.1273. Hum Mol Genet. 1995. PMID: 7581364

3

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: wirth b. Am J Hum Genet. 1994 Jul;55(1):112-9. Am J Hum Genet. 1994. PMID: 8023839 Free PMC article.

4

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: wirth b. Hum Mol Genet. 1995 Oct;4(10):1927-33. doi: 10.1093/hmg/4.10.1927. Hum Mol Genet. 1995. PMID: 8595417

5

Frequent DNA variant in exon 2a of the survival motor neuron gene (SMN): a further possibility for distinguishing the two copies of the gene.

Hahnen ET, Wirth B. Hahnen ET, et al. Among authors: wirth b. Hum Genet. 1996 Jul;98(1):122-3. doi: 10.1007/s004390050172. Hum Genet. 1996. PMID: 8682499

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: wirth b. Am J Hum Genet. 1996 Nov;59(5):1057-65. Am J Hum Genet. 1996. PMID: 8900234 Free PMC article.

7

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: wirth b. Hum Mol Genet. 1997 May;6(5):821-5. doi: 10.1093/hmg/6.5.821. Hum Mol Genet. 1997. PMID: 9158159

8

Different entities of proximal spinal muscular atrophy within one family.

Wirth B, Tessarolo D, Hahnen E, Rudnik-Schöneborn S, Raschke H, Liguori M, Giacanelli M, Zerres K. Wirth B, et al. Hum Genet. 1997 Oct;100(5-6):676-80. doi: 10.1007/s004390050572. Hum Genet. 1997. PMID: 9341891

9

De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling.

Wirth B, Schmidt T, Hahnen E, Rudnik-Schöneborn S, Krawczak M, Müller-Myhsok B, Schönling J, Zerres K. Wirth B, et al. Am J Hum Genet. 1997 Nov;61(5):1102-11. doi: 10.1086/301608. Am J Hum Genet. 1997. PMID: 9345102 Free PMC article.

10

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.

Wirth B, Herz M, Wetter A, Moskau S, Hahnen E, Rudnik-Schöneborn S, Wienker T, Zerres K. Wirth B, et al. Am J Hum Genet. 1999 May;64(5):1340-56. doi: 10.1086/302369. Am J Hum Genet. 1999. PMID: 10205265 Free PMC article.

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