Spiegel R - Search Results

1

Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn.

Higgins R, Jensen AN, Wachstein J, Bruckner-Tuderman L, Spiegel R, Traber H, Achermann J, Schaller M, Fehrenbacher B, Röcken M, Ignatova D, Chang YT, Fischer T, Schwieger-Briel AE, French LE, Hoetzenecker W, Hornung R, Malzacher A, Cozzio A, Navarini A, Has C, Guenova E. Higgins R, et al. Among authors: spiegel r. Acta Derm Venereol. 2020 Jan 30;100(1):adv00041. doi: 10.2340/00015555-3313. Acta Derm Venereol. 2020. PMID: 31502654 Free PMC article. No abstract available.

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

Mihaylova V, Chablais F, Bremer J, Guggenberger R, Rushing EJ, Bethge T, Spiegel R, Jung HH. Mihaylova V, et al. Among authors: spiegel r. J Clin Neuromuscul Dis. 2021 Mar 1;22(3):173-179. doi: 10.1097/CND.0000000000000320. J Clin Neuromuscul Dis. 2021. PMID: 33596003 Free article.

4

Cystic fibrosis associated with neuronal intestinal dysplasia type B: a case report.

Wildhaber J, Seelentag WK, Spiegel R, Schöni MH. Wildhaber J, et al. Among authors: spiegel r. J Pediatr Surg. 1996 Jul;31(7):951-4. doi: 10.1016/s0022-3468(96)90419-4. J Pediatr Surg. 1996. PMID: 8811565

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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