Lohmann DR - Search Results

1

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, Beetz C, Graf E, Schwarzmayr T, Douzgou S, Clayton-Smith J, Daly SB, Williams SG, Bhaskar SS, Urquhart JE, Anderson B, O'Sullivan J, Boute O, Gundlach J, Czeschik JC, van Essen AJ, Hazan F, Park S, Hing A, Kuechler A, Lohmann DR, Ludwig KU, Mangold E, Steenpaß L, Zeschnigk M, Lemke JR, Lourenco CM, Hehr U, Prott EC, Waldenberger M, Böhmer AC, Horsthemke B, O'Keefe RT, Meitinger T, Burn J, Lüdecke HJ, Strom TM. Wieczorek D, et al. Among authors: lohmann dr. Am J Hum Genet. 2014 Dec 4;95(6):698-707. doi: 10.1016/j.ajhg.2014.10.014. Epub 2014 Nov 26. Am J Hum Genet. 2014. PMID: 25434003 Free PMC article.

2

Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis.

Lohmann D, Horsthemke B, Gillessen-Kaesbach G, Stefani FH, Höfler H. Lohmann D, et al. Hum Genet. 1992 Apr;89(1):49-53. doi: 10.1007/BF00207041. Hum Genet. 1992. PMID: 1577465

3

Identification of RB1 germline mutations in Argentinian families with sporadic bilateral retinoblastoma.

Szijan I, Lohmann DR, Parma DL, Brandt B, Horsthemke B. Szijan I, et al. Among authors: lohmann dr. J Med Genet. 1995 Jun;32(6):475-9. doi: 10.1136/jmg.32.6.475. J Med Genet. 1995. PMID: 7666401 Free PMC article.

4

Spectrum of small length germline mutations in the RB1 gene.

Lohmann DR, Brandt B, Höpping W, Passarge E, Horsthemke B. Lohmann DR, et al. Hum Mol Genet. 1994 Dec;3(12):2187-93. doi: 10.1093/hmg/3.12.2187. Hum Mol Genet. 1994. PMID: 7881418

5

Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.

Lohmann DR, Brandt B, Höpping W, Passarge E, Horsthemke B. Lohmann DR, et al. Hum Genet. 1994 Oct;94(4):349-54. doi: 10.1007/BF00201591. Hum Genet. 1994. PMID: 7927327

6

Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma.

Greger V, Debus N, Lohmann D, Höpping W, Passarge E, Horsthemke B. Greger V, et al. Hum Genet. 1994 Nov;94(5):491-6. doi: 10.1007/BF00211013. Hum Genet. 1994. PMID: 7959682

7

Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome.

Gillessen-Kaesbach G, Robinson W, Lohmann D, Kaya-Westerloh S, Passarge E, Horsthemke B. Gillessen-Kaesbach G, et al. Hum Genet. 1995 Dec;96(6):638-43. doi: 10.1007/BF00210291. Hum Genet. 1995. PMID: 8522319

8

The spectrum of RB1 germ-line mutations in hereditary retinoblastoma.

Lohmann DR, Brandt B, Höpping W, Passarge E, Horsthemke B. Lohmann DR, et al. Am J Hum Genet. 1996 May;58(5):940-9. Am J Hum Genet. 1996. PMID: 8651278 Free PMC article.

9

Molecular analysis and predictive testing in retinoblastoma.

Lohmann DR, Brandt B, Oehlschläger U, Göttmann E, Höpping W, Passarge E, Horsthemke B. Lohmann DR, et al. Ophthalmic Genet. 1995 Dec;16(4):135-42. doi: 10.3109/13816819509057854. Ophthalmic Genet. 1995. PMID: 8749049

10

The murine Ext1 gene shows a high level of sequence similarity with its human homologue and is part of a conserved linkage group on chromosome 15.

Lohmann DR, Buiting K, Lüdecke HJ, Horsthemke B. Lohmann DR, et al. Cytogenet Cell Genet. 1997;76(3-4):164-6. doi: 10.1159/000134536. Cytogenet Cell Genet. 1997. PMID: 9186511

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