Kalscheuer VM - Search Results

1

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

Palmer EE, Stuhlmann T, Weinert S, Haan E, Van Esch H, Holvoet M, Boyle J, Leffler M, Raynaud M, Moraine C, van Bokhoven H, Kleefstra T, Kahrizi K, Najmabadi H, Ropers HH, Delgado MR, Sirsi D, Golla S, Sommer A, Pietryga MP, Chung WK, Wynn J, Rohena L, Bernardo E, Hamlin D, Faux BM, Grange DK, Manwaring L, Tolmie J, Joss S; DDD Study; Cobben JM, Duijkers FAM, Goehringer JM, Challman TD, Hennig F, Fischer U, Grimme A, Suckow V, Musante L, Nicholl J, Shaw M, Lodh SP, Niu Z, Rosenfeld JA, Stankiewicz P, Jentsch TJ, Gecz J, Field M, Kalscheuer VM. Palmer EE, et al. Among authors: kalscheuer vm. Mol Psychiatry. 2018 Feb;23(2):222-230. doi: 10.1038/mp.2016.135. Epub 2016 Aug 23. Mol Psychiatry. 2018. PMID: 27550844 Free PMC article.

2

The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans.

Kalscheuer VM, Mariman EC, Schepens MT, Rehder H, Ropers HH. Kalscheuer VM, et al. Nat Genet. 1993 Sep;5(1):74-8. doi: 10.1038/ng0993-74. Nat Genet. 1993. PMID: 8220428

3

No imprinting involved in the expression of DM-kinase mRNAs in mouse and human tissues.

Jansen G, Bartolomei M, Kalscheuer V, Merkx G, Wormskamp N, Mariman E, Smeets D, Ropers HH, Wieringa B. Jansen G, et al. Hum Mol Genet. 1993 Aug;2(8):1221-7. doi: 10.1093/hmg/2.8.1221. Hum Mol Genet. 1993. PMID: 8401505

4

The MAS proto-oncogene is not imprinted in humans.

Riesewijk AM, Schepens MT, Mariman EM, Ropers HH, Kalscheuer VM. Riesewijk AM, et al. Among authors: kalscheuer vm. Genomics. 1996 Jul 15;35(2):380-2. doi: 10.1006/geno.1996.0372. Genomics. 1996. PMID: 8661154 Free article.

5

Maternal-specific methylation of the human IGF2R gene is not accompanied by allele-specific transcription.

Riesewijk AM, Schepens MT, Welch TR, van den Berg-Loonen EM, Mariman EM, Ropers HH, Kalscheuer VM. Riesewijk AM, et al. Among authors: kalscheuer vm. Genomics. 1996 Jan 15;31(2):158-66. doi: 10.1006/geno.1996.0027. Genomics. 1996. PMID: 8824797

6

Absence of an obvious molecular imprinting mechanism in a human fetus with monoallelic IGF2R expression.

Riesewijk AM, Xu YQ, Schepens MT, Mariman EM, Polychronakos C, Ropers HH, Kalscheuer VM. Riesewijk AM, et al. Among authors: kalscheuer vm. Biochem Biophys Res Commun. 1998 Apr 7;245(1):272-7. doi: 10.1006/bbrc.1998.8414. Biochem Biophys Res Commun. 1998. PMID: 9535821

7

Evidence against a major role of PEG1/MEST in Silver-Russell syndrome.

Riesewijk AM, Blagitko N, Schinzel AA, Hu L, Schulz U, Hamel BC, Ropers HH, Kalscheuer VM. Riesewijk AM, et al. Among authors: kalscheuer vm. Eur J Hum Genet. 1998 Mar-Apr;6(2):114-20. doi: 10.1038/sj.ejhg.5200164. Eur J Hum Genet. 1998. PMID: 9781054

8

Genomic structure and comparative analysis of nine Fugu genes: conservation of synteny with human chromosome Xp22.2-p22.1.

Brunner B, Todt T, Lenzner S, Stout K, Schulz U, Ropers HH, Kalscheuer VM. Brunner B, et al. Among authors: kalscheuer vm. Genome Res. 1999 May;9(5):437-48. Genome Res. 1999. PMID: 10330123 Free PMC article.

9

gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome.

Blagitko N, Schulz U, Schinzel AA, Ropers HH, Kalscheuer VM. Blagitko N, et al. Among authors: kalscheuer vm. Hum Mol Genet. 1999 Dec;8(13):2387-96. doi: 10.1093/hmg/8.13.2387. Hum Mol Genet. 1999. PMID: 10556286

10

Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion.

Blagitko N, Mergenthaler S, Schulz U, Wollmann HA, Craigen W, Eggermann T, Ropers HH, Kalscheuer VM. Blagitko N, et al. Among authors: kalscheuer vm. Hum Mol Genet. 2000 Jul 1;9(11):1587-95. doi: 10.1093/hmg/9.11.1587. Hum Mol Genet. 2000. PMID: 10861285

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