Tariverdian G - Search Results

1

Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals.

Granzow M, Popp S, Keller M, Holtgreve-Grez H, Brough M, Schoell B, Rauterberg-Ruland I, Hager HD, Tariverdian G, Jauch A. Granzow M, et al. Among authors: tariverdian g. Hum Genet. 2000 Jul;107(1):51-7. doi: 10.1007/s004390000321. Hum Genet. 2000. PMID: 10982035

2

Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay.

Popp S, Schulze B, Granzow M, Keller M, Holtgreve-Grez H, Schoell B, Brough M, Hager HD, Tariverdian G, Brown J, Kearney L, Jauch A. Popp S, et al. Among authors: tariverdian g. Hum Genet. 2002 Jul;111(1):31-9. doi: 10.1007/s00439-002-0739-x. Epub 2002 Jun 13. Hum Genet. 2002. PMID: 12136233

3

Multicolor chromosomal bar coding characterizes a de novo interstitial deletion (5)(q33.3q35.2) in a child with multiple congenital malformations.

Schiffer C, Popp S, Moshir S, Rupprath G, Düngfelder E, Hager HD, Tariverdian G, Jauch A. Schiffer C, et al. Among authors: tariverdian g. Clin Dysmorphol. 2003 Apr;12(2):129-31. doi: 10.1097/00019605-200304000-00011. Clin Dysmorphol. 2003. PMID: 12868477

4

Survival up to age 10 years in a patient with partial duplication 6q: case report and review of the literature.

Seel C, Hager HD, Jauch A, Tariverdian G, Zschocke J. Seel C, et al. Among authors: tariverdian g. Clin Dysmorphol. 2005 Jan;14(1):51-54. Clin Dysmorphol. 2005. PMID: 15602097

5

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

6

Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.

Spranger S, Schiller S, Jauch A, Wolff K, Rauterberg-Ruland I, Hager D, Tariverdian G, Tröger J, Rappold G. Spranger S, et al. Among authors: tariverdian g. Am J Med Genet. 1999 Apr 23;83(5):367-71. doi: 10.1002/(sici)1096-8628(19990423)83:5<367::aid-ajmg5>3.0.co;2-k. Am J Med Genet. 1999. PMID: 10232745

7

Prenatal enzymatic diagnosis and exclusion of Krabbe's disease (globoid-cell leukodystrophy) using chorionic villi in five risk pregnancies.

Harzer K, Hager HD, Tariverdian G. Harzer K, et al. Among authors: tariverdian g. Hum Genet. 1987 Dec;77(4):342-4. doi: 10.1007/BF00291423. Hum Genet. 1987. PMID: 3692478

8

Wolf-Hirschhorn syndrome: case report and review of the chromosomal aberrations associated with diaphragmatic defects.

Sergi C, Schulze BR, Hager HD, Beedgen B, Zilow E, Linderkamp O, Otto HF, Tariverdian G. Sergi C, et al. Among authors: tariverdian g. Pathologica. 1998 Jun;90(3):285-93. Pathologica. 1998. PMID: 9774859 Review.

9

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.

10

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

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