Kalscheuer V - Search Results

1

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.

Grabowski M, Zimprich A, Lorenz-Depiereux B, Kalscheuer V, Asmus F, Gasser T, Meitinger T, Strom TM. Grabowski M, et al. Among authors: kalscheuer v. Eur J Hum Genet. 2003 Feb;11(2):138-44. doi: 10.1038/sj.ejhg.5200938. Eur J Hum Genet. 2003. PMID: 12634861

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

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

4

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

5

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.

Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G, Wieczorek D, Hinkel GK, Tinschert S, Hoeltzenbein M, Ropers HH, Kalscheuer VM. Musante L, et al. Eur J Hum Genet. 2003 Feb;11(2):201-6. doi: 10.1038/sj.ejhg.5200935. Eur J Hum Genet. 2003. PMID: 12634870

6

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.

Borg I, Freude K, Kübart S, Hoffmann K, Menzel C, Laccone F, Firth H, Ferguson-Smith MA, Tommerup N, Ropers HH, Sargan D, Kalscheuer VM. Borg I, et al. Eur J Hum Genet. 2005 Aug;13(8):921-7. doi: 10.1038/sj.ejhg.5201429. Eur J Hum Genet. 2005. PMID: 15870826

7

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.

Neumann TE, Allanson J, Kavamura I, Kerr B, Neri G, Noonan J, Cordeddu V, Gibson K, Tzschach A, Krüger G, Hoeltzenbein M, Goecke TO, Kehl HG, Albrecht B, Luczak K, Sasiadek MM, Musante L, Laurie R, Peters H, Tartaglia M, Zenker M, Kalscheuer V. Neumann TE, et al. Among authors: kalscheuer v. Eur J Hum Genet. 2009 Apr;17(4):420-5. doi: 10.1038/ejhg.2008.188. Epub 2008 Oct 15. Eur J Hum Genet. 2009. PMID: 18854871 Free PMC article.

8

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.

Jensen LR, Chen W, Moser B, Lipkowitz B, Schroeder C, Musante L, Tzschach A, Kalscheuer VM, Meloni I, Raynaud M, van Esch H, Chelly J, de Brouwer AP, Hackett A, van der Haar S, Henn W, Gecz J, Riess O, Bonin M, Reinhardt R, Ropers HH, Kuss AW. Jensen LR, et al. Eur J Hum Genet. 2011 Jun;19(6):717-20. doi: 10.1038/ejhg.2010.244. Epub 2011 Jan 26. Eur J Hum Genet. 2011. PMID: 21267006 Free PMC article.

9

Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review.

Kotzaeridou U, Young-Baird SK, Suckow V, Thornburg AG, Wagner M, Harting I, Christ S, Strom T, Dever TE, Kalscheuer VM. Kotzaeridou U, et al. Among authors: kalscheuer vm. Clin Genet. 2020 Nov;98(5):507-514. doi: 10.1111/cge.13831. Epub 2020 Sep 4. Clin Genet. 2020. PMID: 32799315 Free PMC article.

10

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

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