Tariverdian G - Search Results

1

Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses.

Riesewijk AM, Hu L, Schulz U, Tariverdian G, Höglund P, Kere J, Ropers HH, Kalscheuer VM. Riesewijk AM, et al. Among authors: tariverdian g. Genomics. 1997 Jun 1;42(2):236-44. doi: 10.1006/geno.1997.4731. Genomics. 1997. PMID: 9192843 Free article.

2

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

Jensen LR, Amende M, Gurok U, Moser B, Gimmel V, Tzschach A, Janecke AR, Tariverdian G, Chelly J, Fryns JP, Van Esch H, Kleefstra T, Hamel B, Moraine C, Gecz J, Turner G, Reinhardt R, Kalscheuer VM, Ropers HH, Lenzner S. Jensen LR, et al. Among authors: tariverdian g. Am J Hum Genet. 2005 Feb;76(2):227-36. doi: 10.1086/427563. Epub 2004 Dec 7. Am J Hum Genet. 2005. PMID: 15586325 Free PMC article.

3

Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families.

Steinbach P, Wöhrle D, Tariverdian G, Kennerknecht I, Barbi G, Edlinger H, Enders H, Götz-Sothmann M, Heilbronner H, Hosenfeld D, et al. Steinbach P, et al. Among authors: tariverdian g. Hum Genet. 1993 Nov;92(5):491-8. doi: 10.1007/BF00216457. Hum Genet. 1993. PMID: 7902319

4

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.

Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, O'Rourke D, King MD, Green A, van Kogelenberg M, Van Esch H, Gecz J, Hamel BC, van Bokhoven H, de Brouwer AP. Lugtenberg D, et al. Among authors: tariverdian g. Eur J Hum Genet. 2009 Apr;17(4):444-53. doi: 10.1038/ejhg.2008.208. Epub 2008 Nov 5. Eur J Hum Genet. 2009. PMID: 18985075 Free PMC article.

5

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.

Hennies HC, Rauch A, Seifert W, Schumi C, Moser E, Al-Taji E, Tariverdian G, Chrzanowska KH, Krajewska-Walasek M, Rajab A, Giugliani R, Neumann TE, Eckl KM, Karbasiyan M, Reis A, Horn D. Hennies HC, et al. Among authors: tariverdian g. Am J Hum Genet. 2004 Jul;75(1):138-45. doi: 10.1086/422219. Epub 2004 May 20. Am J Hum Genet. 2004. PMID: 15154116 Free PMC article.

6

Trisomy 8q and partial trisomy 22 in a 43-year-old man with moderate intellectual disability, epilepsy and large cell non-Hodgkin lymphoma.

Helbig I, Wirtenberger M, Jauch A, Hager HD, Tariverdian G, Hemminki K, Burwinkel B, Klaes R. Helbig I, et al. Among authors: tariverdian g. Am J Med Genet A. 2006 Aug 1;140(15):1658-62. doi: 10.1002/ajmg.a.31350. Am J Med Genet A. 2006. PMID: 16838305

7

The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation.

Endris V, Wogatzky B, Leimer U, Bartsch D, Zatyka M, Latif F, Maher ER, Tariverdian G, Kirsch S, Karch D, Rappold GA. Endris V, et al. Among authors: tariverdian g. Proc Natl Acad Sci U S A. 2002 Sep 3;99(18):11754-9. doi: 10.1073/pnas.162241099. Epub 2002 Aug 23. Proc Natl Acad Sci U S A. 2002. PMID: 12195014 Free PMC article.

8

Short-rib-polydactyly syndrome type Verma-Naumoff-Le Marec in a fetus with histological hallmarks of type Saldino-Noonan but lacking internal organ abnormalities.

Hentze S, Sergi C, Troeger J, Revell PA, Otto HF, Tariverdian G. Hentze S, et al. Among authors: tariverdian g. Am J Med Genet. 1998 Nov 16;80(3):281-5. Am J Med Genet. 1998. PMID: 9843054

9

Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height.

Spranger S, Kirsch S, Mertz A, Schiebel K, Tariverdian G, Rappold GA. Spranger S, et al. Among authors: tariverdian g. Clin Genet. 1997 May;51(5):346-50. doi: 10.1111/j.1399-0004.1997.tb02486.x. Clin Genet. 1997. PMID: 9212185

10

Nonspecific X-linked mental retardation--a review.

Tariverdian G, Weck B. Tariverdian G, et al. Hum Genet. 1982;62(2):95-109. doi: 10.1007/BF00282294. Hum Genet. 1982. PMID: 6761264 Review.

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