Hergersberg M - Search Results

1

[Hereditary hearing loss due to mutations in the connexin-26 gene].

Weigell-Weber M, Schinzel A, Hergersberg M. Weigell-Weber M, et al. Among authors: hergersberg m. Schweiz Med Wochenschr. 2000 Jul 25;130(29-30):1072-7. Schweiz Med Wochenschr. 2000. PMID: 10971940 German.

2

[Hereditary hearing loss: new diagnostic possibilities].

Hergersberg M, Weigell-Weber M. Hergersberg M, et al. Schweiz Med Wochenschr. 2000 Apr 1;130(13):485-9. Schweiz Med Wochenschr. 2000. PMID: 10812644 German.

3

[Direct genetic diagnosis in Huntington's chorea].

Spiegel R, Weigell-Weber M, Hergersberg M, Schmid W. Spiegel R, et al. Among authors: hergersberg m. Schweiz Med Wochenschr. 1993 Dec 4;123(48):2271-7. Schweiz Med Wochenschr. 1993. PMID: 8272801 Review. German.

4

A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy.

Pajic B, Weigell-Weber M, Schipper I, Kryenbühl C, Büchi ER, Spiegel R, Hergersberg M. Pajic B, et al. Among authors: hergersberg m. Retina. 2006 Oct;26(8):947-53. doi: 10.1097/01.iae.0000250010.60908.e3. Retina. 2006. PMID: 17031298

5

Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: hot spots for mutations in autosomal dominant cone-rod dystrophy?

Weigell-Weber M, Fokstuen S, Török B, Niemeyer G, Schinzel A, Hergersberg M. Weigell-Weber M, et al. Among authors: hergersberg m. Arch Ophthalmol. 2000 Feb;118(2):300. doi: 10.1001/archopht.118.2.300. Arch Ophthalmol. 2000. PMID: 10676808 No abstract available.

6

McLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings.

Jung HH, Hergersberg M, Kneifel S, Alkadhi H, Schiess R, Weigell-Weber M, Daniels G, Kollias S, Hess K. Jung HH, et al. Among authors: hergersberg m. Ann Neurol. 2001 Mar;49(3):384-92. Ann Neurol. 2001. PMID: 11261514

7

A PCR based X-chromosome inactivation assay for carrier detection in X-linked immunodeficiencies using differential methylation of the androgen receptor gene.

Schmucker B, Meindl A, Achatz H, Mittermüller J, Krüger G, Hergersberg M, Spiegel R, Schinzel A, Belohradsky BH, Murken J, et al. Schmucker B, et al. Among authors: hergersberg m. Immunodeficiency. 1995;5(3):187-92. Immunodeficiency. 1995. PMID: 7749438

8

Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy.

Weigell-Weber M, Sarra GM, Kotzot D, Sandkuijl L, Messmer E, Hergersberg M. Weigell-Weber M, et al. Among authors: hergersberg m. Arch Ophthalmol. 2003 Aug;121(8):1184-8. doi: 10.1001/archopht.121.8.1184. Arch Ophthalmol. 2003. PMID: 12912698 Free article.

9

A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms.

Baumer A, Wiedemann U, Hergersberg M, Schinzel A. Baumer A, et al. Among authors: hergersberg m. Hum Mutat. 2001 May;17(5):423-30. doi: 10.1002/humu.1118. Hum Mutat. 2001. PMID: 11317358

10

Clinical description and exclusion of candidate genes in a novel autosomal recessively inherited vitreoretinal dystrophy.

Sarra GM, Weigell-Weber M, Kotzot D, Niemeyer G, Messmer E, Hergersberg M. Sarra GM, et al. Among authors: hergersberg m. Arch Ophthalmol. 2003 Aug;121(8):1109-16. doi: 10.1001/archopht.121.8.1109. Arch Ophthalmol. 2003. PMID: 12912687

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