Boltshauser E - Search Results

1

Two novel mutations: 5108delAG and 5816insG in the NF1 gene detected by SSCP analysis.

Zhong J, Spiegel R, Boltshauser E, Schmid W. Zhong J, et al. Among authors: boltshauser e. Hum Mol Genet. 1993 Sep;2(9):1491-2. doi: 10.1093/hmg/2.9.1491. Hum Mol Genet. 1993. PMID: 8242079 Free article. No abstract available.

2

[Molecular genetics diagnosis of Steinert's myotonic dystrophy].

Spiegel R, Einschenk I, Schinzel A, Shelbourne P, Johnson K, Boltshauser E, Schmid W. Spiegel R, et al. Among authors: boltshauser e. Schweiz Med Wochenschr. 1992 Oct 17;122(42):1553-8. Schweiz Med Wochenschr. 1992. PMID: 1411415 Review. German.

3

[Neurofibromatosis Type 1: genetic studies with DNA markers in 38 families].

Spiegel R, Mächler M, Stocker HP, Boltshauser E, Schmid W. Spiegel R, et al. Among authors: boltshauser e. Schweiz Med Wochenschr. 1991 Oct 5;121(40):1445-52. Schweiz Med Wochenschr. 1991. PMID: 1925476 German.

4

Molecular deletion patterns in Duchenne and Becker type muscular dystrophy.

Liechti-Gallati S, Koenig M, Kunkel LM, Frey D, Boltshauser E, Schneider V, Braga S, Moser H. Liechti-Gallati S, et al. Among authors: boltshauser e. Hum Genet. 1989 Mar;81(4):343-8. doi: 10.1007/BF00283688. Hum Genet. 1989. PMID: 2784778

5

Pelizaeus-Merzbacher disease: identification of heterozygotes with magnetic resonance imaging?

Boltshauser E, Schinzel A, Wichmann W, Haller D, Valavanis A. Boltshauser E, et al. Hum Genet. 1988 Dec;80(4):393-4. doi: 10.1007/BF00273659. Hum Genet. 1988. PMID: 3198119

6

[Molecular genetic diagnosis and deletion analysis in Type I-III spinal muscular atrophy].

Spiegel R, Hagmann A, Boltshauser E, Moser H. Spiegel R, et al. Among authors: boltshauser e. Schweiz Med Wochenschr. 1996 May 25;126(21):907-14. Schweiz Med Wochenschr. 1996. PMID: 8693311 Review. German.

7

Progressive subcutaneous and periarticular calcifications in a patient with spinal muscular atrophy type III.

Boltshauser E, Gehrmann J, Steinlin M, Eich G, Spiegel R. Boltshauser E, et al. Neuropediatrics. 1995 Dec;26(6):331-2. doi: 10.1055/s-2007-979786. Neuropediatrics. 1995. PMID: 8719752 No abstract available.

8

Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene.

Perrin G, Morris MA, Antonarakis SE, Boltshauser E, Hutter P. Perrin G, et al. Among authors: boltshauser e. Hum Mutat. 1996;7(2):172-5. doi: 10.1002/(SICI)1098-1004(1996)7:2<172::AID-HUMU15>3.0.CO;2-#. Hum Mutat. 1996. PMID: 8829638 No abstract available.

9

Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR.

Kleinle S, Wiesmann U, Superti-Furga A, Krähenbühl S, Boltshauser E, Reichen J, Liechti-Gallati S. Kleinle S, et al. Among authors: boltshauser e. Hum Genet. 1997 Oct;100(5-6):643-50. doi: 10.1007/s004390050567. Hum Genet. 1997. PMID: 9341886

10

Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene.

Bartholdi D, Klein A, Weissert M, Koenig N, Baumer A, Boltshauser E, Schinzel A, Berger W, Mátyás G. Bartholdi D, et al. Among authors: boltshauser e. Clin Genet. 2006 Apr;69(4):319-26. doi: 10.1111/j.1399-0004.2006.00604.x. Clin Genet. 2006. PMID: 16630165

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