Horsthemke B - Search Results

1

The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature.

Pellikaan K, van Woerden GM, Kleinendorst L, Rosenberg AGW, Horsthemke B, Grosser C, van Zutven LJCM, van Rossum EFC, van der Lely AJ, Resnick JL, Brüggenwirth HT, van Haelst MM, de Graaff LCG. Pellikaan K, et al. Among authors: horsthemke b. Genes (Basel). 2021 Jun 7;12(6):875. doi: 10.3390/genes12060875. Genes (Basel). 2021. PMID: 34200226 Free PMC article. Review.

2

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13.

Dittrich B, Robinson WP, Knoblauch H, Buiting K, Schmidt K, Gillessen-Kaesbach G, Horsthemke B. Dittrich B, et al. Among authors: horsthemke b. Hum Genet. 1992 Nov;90(3):313-5. doi: 10.1007/BF00220089. Hum Genet. 1992. PMID: 1487250

3

DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome.

Gillessen-Kaesbach G, Gross S, Kaya-Westerloh S, Passarge E, Horsthemke B. Gillessen-Kaesbach G, et al. Among authors: horsthemke b. J Med Genet. 1995 Feb;32(2):88-92. doi: 10.1136/jmg.32.2.88. J Med Genet. 1995. PMID: 7760327 Free PMC article.

4

Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B. Buiting K, et al. Among authors: horsthemke b. Nat Genet. 1995 Apr;9(4):395-400. doi: 10.1038/ng0495-395. Nat Genet. 1995. PMID: 7795645

5

Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications.

Buiting K, Dittrich B, Robinson WP, Guitart M, Abeliovich D, Lerer I, Horsthemke B. Buiting K, et al. Among authors: horsthemke b. Hum Mol Genet. 1994 Jun;3(6):893-5. doi: 10.1093/hmg/3.6.893. Hum Mol Genet. 1994. PMID: 7951232

6

Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene.

Buiting K, Dittrich B, Gross S, Greger V, Lalande M, Robinson W, Mutirangura A, Ledbetter D, Horsthemke B. Buiting K, et al. Among authors: horsthemke b. Hum Mol Genet. 1993 Dec;2(12):1991-4. doi: 10.1093/hmg/2.12.1991. Hum Mol Genet. 1993. PMID: 8111365

7

Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients.

Glenn CC, Nicholls RD, Robinson WP, Saitoh S, Niikawa N, Schinzel A, Horsthemke B, Driscoll DJ. Glenn CC, et al. Among authors: horsthemke b. Hum Mol Genet. 1993 Sep;2(9):1377-82. doi: 10.1093/hmg/2.9.1377. Hum Mol Genet. 1993. PMID: 8242060 Free article.

8

A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.

Mutirangura A, Jayakumar A, Sutcliffe JS, Nakao M, McKinney MJ, Buiting K, Horsthemke B, Beaudet AL, Chinault AC, Ledbetter DH. Mutirangura A, et al. Among authors: horsthemke b. Genomics. 1993 Dec;18(3):546-52. doi: 10.1016/s0888-7543(11)80011-x. Genomics. 1993. PMID: 8307564

9

Characterization of a DNA sequence family in the Prader-Willi/Angelman syndrome chromosome region in 15q11-q13.

Dittrich B, Knoblauch H, Buiting K, Horsthemke B. Dittrich B, et al. Among authors: horsthemke b. Genomics. 1993 Apr;16(1):269-71. doi: 10.1006/geno.1993.1175. Genomics. 1993. PMID: 8486372

10

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. Among authors: horsthemke b. Hum Genet. 1995 Dec;96(6):638-43. doi: 10.1007/BF00210291. Hum Genet. 1995. PMID: 8522319

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