Rautenstrauss B - Search Results

1

Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.

Timmerman V, Rautenstrauss B, Reiter LT, Koeuth T, Löfgren A, Liehr T, Nelis E, Bathke KD, De Jonghe P, Grehl H, Martin JJ, Lupski JR, Van Broeckhoven C. Timmerman V, et al. Among authors: rautenstrauss b. J Med Genet. 1997 Jan;34(1):43-9. doi: 10.1136/jmg.34.1.43. J Med Genet. 1997. PMID: 9032649 Free PMC article.

2

Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion.

Liehr T, Rautenstrauss B, Grehl H, Bathke KD, Ekici A, Rauch A, Rott HD. Liehr T, et al. Among authors: rautenstrauss b. Hum Genet. 1996 Jul;98(1):22-8. doi: 10.1007/s004390050154. Hum Genet. 1996. PMID: 8682501

3

Molecular diagnosis of PMP22-associated neuropathies using fluorescence in situ hybridization (FISH) on archival peripheral nerve tissue preparations.

Liehr T, Grehl H, Rautenstrauss B. Liehr T, et al. Among authors: rautenstrauss b. Acta Neuropathol. 1997 Sep;94(3):266-71. doi: 10.1007/s004010050702. Acta Neuropathol. 1997. PMID: 9292696

4

Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field.

Nelis E, Timmerman V, De Jonghe P, Van Broeckhoven C, Rautenstrauss B. Nelis E, et al. Among authors: rautenstrauss b. Neurogenetics. 1999 Sep;2(3):137-48. doi: 10.1007/s100480050074. Neurogenetics. 1999. PMID: 10541586 Review.

5

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR. Zhang F, et al. Among authors: rautenstrauss b. Am J Hum Genet. 2010 Jun 11;86(6):892-903. doi: 10.1016/j.ajhg.2010.05.001. Epub 2010 May 20. Am J Hum Genet. 2010. PMID: 20493460 Free PMC article.

6

Clinical and morphological phenotype of HMSN 1A mosaicism.

Grehl H, Rautenstrauss B, Liehr T, Bickel A, Ekici A, Bathke K, Neundörfer B. Grehl H, et al. Among authors: rautenstrauss b. Neuromuscul Disord. 1997 Jan;7(1):27-31. doi: 10.1016/s0960-8966(96)00396-3. Neuromuscul Disord. 1997. PMID: 9132137

7

Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: a SacI polymorphism in the proximal CMT1A-REP elements may lead to genetic misdiagnosis.

Fuchs C, Liehr T, Ozbey S, Ekici A, Grehl H, Rautenstrauss B. Fuchs C, et al. Among authors: rautenstrauss b. Neurogenetics. 1998 Dec;2(1):43-6. doi: 10.1007/s100480050050. Neurogenetics. 1998. PMID: 9933299

8

Visualization of the CMT1A duplication and HNPP deletion by FISH on stretched chromosome fibers.

Rautenstrauss B, Fuchs C, Liehr T, Grehl H, Murakami T, Lupski JR. Rautenstrauss B, et al. J Peripher Nerv Syst. 1997;2(4):319-22. J Peripher Nerv Syst. 1997. PMID: 10975740 No abstract available.

9

PMP22 Thr118Met is not a clinically relevant CMT1 marker.

Young P, Stögbauer F, Eller B, de Jonghe P, Löfgren A, Timmerman V, Rautenstrauss B, Oexle K, Grehl H, Kuhlenbäumer G, Van Broeckhoven C, Ringelstein EB, Funke H. Young P, et al. Among authors: rautenstrauss b. J Neurol. 2000 Sep;247(9):696-700. doi: 10.1007/s004150070113. J Neurol. 2000. PMID: 11081809

10

Accumulation of peripheral myelin protein 22 (PMP22) in onion bulbs of nerves biopsied from patients with different subtypes of Charcot-Marie-Tooth disease type 1.

Liehr T, Grehl H, Rautenstrauss B. Liehr T, et al. Among authors: rautenstrauss b. Acta Neuropathol. 1997 Nov;94(5):514-6. doi: 10.1007/s004010050742. Acta Neuropathol. 1997. PMID: 9386787 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

127 results

Search Page

Filters