Kalscheuer V - Search Results

1

Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.

Frints SG, Jun L, Fryns JP, Devriendt K, Teulingkx R, Van den Berghe L, De Vos B, Borghgraef M, Chelly J, Des Portes V, Van Bokhoven H, Hamel B, Ropers HH, Kalscheuer V, Raynaud M, Moraine C, Marynen P, Froyen G. Frints SG, et al. Among authors: kalscheuer v. Am J Med Genet A. 2003 Jun 15;119A(3):367-74. doi: 10.1002/ajmg.a.20195. Am J Med Genet A. 2003. PMID: 12784308

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

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.

4

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

5

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

6

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

7

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

8

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

9

Identification of two new polymorphisms (c2447-125A>G; c2532G>A) in the gamma 2-COP (COPG2) gene by screening of Silver-Russell syndrome patients.

Mergenthaler S, Blagitko-Dorfs N, Wollmann HA, Ranke MB, Ropers HH, Kalscheuer VM, Eggermann T. Mergenthaler S, et al. Among authors: kalscheuer vm. Hum Mutat. 2000 Jul;16(1):96. doi: 10.1002/1098-1004(200007)16:1<96::AID-HUMU32>3.0.CO;2-V. Hum Mutat. 2000. PMID: 10874328 No abstract available.

10

Molecular cloning and characterization of the Fugu rubripes MEST/COPG2 imprinting cluster and chromosomal localization in Fugu and Tetraodon nigroviridis.

Brunner B, Grützner F, Yaspo ML, Ropers HH, Haaf T, Kalscheuer VM. Brunner B, et al. Among authors: kalscheuer vm. Chromosome Res. 2000;8(6):465-76. doi: 10.1023/a:1009263504671. Chromosome Res. 2000. PMID: 11032317

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