Horsthemke B - Search Results

1

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.

Docherty LE, Rezwan FI, Poole RL, Turner CL, Kivuva E, Maher ER, Smithson SF, Hamilton-Shield JP, Patalan M, Gizewska M, Peregud-Pogorzelski J, Beygo J, Buiting K, Horsthemke B, Soellner L, Begemann M, Eggermann T, Baple E, Mansour S, Temple IK, Mackay DJ. Docherty LE, et al. Among authors: horsthemke b. Nat Commun. 2015 Sep 1;6:8086. doi: 10.1038/ncomms9086. Nat Commun. 2015. PMID: 26323243 Free PMC article.

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

A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes.

Buiting K, Greger V, Brownstein BH, Mohr RM, Voiculescu I, Winterpacht A, Zabel B, Horsthemke B. Buiting K, et al. Among authors: horsthemke b. Proc Natl Acad Sci U S A. 1992 Jun 15;89(12):5457-61. doi: 10.1073/pnas.89.12.5457. Proc Natl Acad Sci U S A. 1992. PMID: 1608955 Free PMC article.

4

Microdissection of the Prader-Willi syndrome chromosome region and identification of potential gene sequences.

Buiting K, Neumann M, Lüdecke HJ, Senger G, Claussen U, Antich J, Passarge E, Horsthemke B. Buiting K, et al. Among authors: horsthemke b. Genomics. 1990 Mar;6(3):521-7. doi: 10.1016/0888-7543(90)90481-9. Genomics. 1990. PMID: 2328991

5

Construction of a chromosome 15-specific linking library and identification of potential gene sequences.

Buiting K, Passarge E, Horsthemke B. Buiting K, et al. Among authors: horsthemke b. Genomics. 1988 Aug;3(2):143-9. doi: 10.1016/0888-7543(88)90145-0. Genomics. 1988. PMID: 2906324

6

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

7

An NciI RFLP at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-13.

Dittrich B, Gross S, Buiting K, Horsthemke B. Dittrich B, et al. Among authors: horsthemke b. Hum Mol Genet. 1993 Sep;2(9):1509. doi: 10.1093/hmg/2.9.1509. Hum Mol Genet. 1993. PMID: 7902166 No abstract available.

8

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

9

An insertion/deletion polymorphism at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-13.

Dittrich B, Buiting K, Gross S, Horsthemke B. Dittrich B, et al. Among authors: horsthemke b. Hum Genet. 1994 Nov;94(5):583-4. doi: 10.1007/BF00211036. Hum Genet. 1994. PMID: 7959704 No abstract available.

10

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

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