Spiegel R - Search Results

1

Reliable detection of trisomy 21 using MALDI-TOF mass spectrometry.

Huang DJ, Nelson MR, Zimmermann B, Dudarewicz L, Wenzel F, Spiegel R, Nagy B, Holzgreve W, Hahn S. Huang DJ, et al. Among authors: spiegel r. Genet Med. 2006 Nov;8(11):728-34. doi: 10.1097/01.gim.0000245573.42908.34. Genet Med. 2006. PMID: 17108765 Free article.

2

Parental origin of the supernumerary chromosome in trisomy 18.

Ya-gang X, Robinson WP, Spiegel R, Binkert F, Ruefenacht U, Schinzel AA. Ya-gang X, et al. Among authors: spiegel r. Clin Genet. 1993 Aug;44(2):57-61. doi: 10.1111/j.1399-0004.1993.tb03847.x. Clin Genet. 1993. PMID: 8275560

3

Psychiatric symptoms and CAG expansion in Huntington's disease.

Weigell-Weber M, Schmid W, Spiegel R. Weigell-Weber M, et al. Among authors: spiegel r. Am J Med Genet. 1996 Feb 16;67(1):53-7. doi: 10.1002/(SICI)1096-8628(19960216)67:1<53::AID-AJMG9>3.0.CO;2-T. Am J Med Genet. 1996. PMID: 8678115

4

Rapid detection of sex chromosomal aneuploidies by PCR.

Mehra S, Schmid W, Spiegel R. Mehra S, et al. Among authors: spiegel r. Indian J Med Res. 1995 Mar;101:111-4. Indian J Med Res. 1995. PMID: 7751038

5

Deletion breakpoints associated with the Prader-Willi and Angelman syndromes (15q11-q13) are not sites of high homologous recombination.

Robinson WP, Spiegel R, Schinzel AA. Robinson WP, et al. Among authors: spiegel r. Hum Genet. 1993 Mar;91(2):181-4. doi: 10.1007/BF00222722. Hum Genet. 1993. PMID: 8462978

6

[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. Schweiz Med Wochenschr. 1992 Oct 17;122(42):1553-8. Schweiz Med Wochenschr. 1992. PMID: 1411415 Review. German.

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: spiegel r. Immunodeficiency. 1995;5(3):187-92. Immunodeficiency. 1995. PMID: 7749438

8

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: spiegel r. 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.

9

[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. Schweiz Med Wochenschr. 1991 Oct 5;121(40):1445-52. Schweiz Med Wochenschr. 1991. PMID: 1925476 German.

10

Genetic heterogeneity in autosomal dominant pattern dystrophy of the retina.

Weigell-Weber M, Kryenbühl C, Büchi ER, Spiegel R. Weigell-Weber M, et al. Among authors: spiegel r. Mol Vis. 1996 Jun 20;2:6. Mol Vis. 1996. PMID: 9238083 Free article.

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