Karbasiyan M - Search Results

1

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.

Ropers F, Derivery E, Hu H, Garshasbi M, Karbasiyan M, Herold M, Nürnberg G, Ullmann R, Gautreau A, Sperling K, Varon R, Rajab A. Ropers F, et al. Among authors: karbasiyan m. Hum Mol Genet. 2011 Jul 1;20(13):2585-90. doi: 10.1093/hmg/ddr158. Epub 2011 Apr 15. Hum Mol Genet. 2011. PMID: 21498477

2

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: karbasiyan m. 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.

3

Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.

Rajab A, Straub V, McCann LJ, Seelow D, Varon R, Barresi R, Schulze A, Lucke B, Lützkendorf S, Karbasiyan M, Bachmann S, Spuler S, Schuelke M. Rajab A, et al. Among authors: karbasiyan m. PLoS Genet. 2010 Mar 12;6(3):e1000874. doi: 10.1371/journal.pgen.1000874. PLoS Genet. 2010. PMID: 20300641 Free PMC article.

4

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

Seemanova E, Varon R, Vejvalka J, Jarolim P, Seeman P, Chrzanowska KH, Digweed M, Resnick I, Kremensky I, Saar K, Hoffmann K, Dutrannoy V, Karbasiyan M, Ghani M, Barić I, Tekin M, Kovacs P, Krawczak M, Reis A, Sperling K, Nothnagel M. Seemanova E, et al. Among authors: karbasiyan m. PLoS One. 2016 Dec 9;11(12):e0167984. doi: 10.1371/journal.pone.0167984. eCollection 2016. PLoS One. 2016. PMID: 27936167 Free PMC article.

5

Genetic deafness in a preterm infant with a critical postnatal course.

Koehne PS, Hüseman D, Walch E, Schuelke M, Varon R, Karbasiyan M, Aust G, Obladen M. Koehne PS, et al. Among authors: karbasiyan m. Pediatr Crit Care Med. 2006 May;7(3):270-2. doi: 10.1097/01.PCC.0000216679.47571.DA. Pediatr Crit Care Med. 2006. PMID: 16575343

6

Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome.

Köchling J, Karbasiyan M, Reis A. Köchling J, et al. Among authors: karbasiyan m. Eur J Hum Genet. 2001 Aug;9(8):599-605. doi: 10.1038/sj.ejhg.5200683. Eur J Hum Genet. 2001. PMID: 11528505

7

Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B.

Bittner RE, Anderson LV, Burkhardt E, Bashir R, Vafiadaki E, Ivanova S, Raffelsberger T, Maerk I, Höger H, Jung M, Karbasiyan M, Storch M, Lassmann H, Moss JA, Davison K, Harrison R, Bushby KM, Reis A. Bittner RE, et al. Among authors: karbasiyan m. Nat Genet. 1999 Oct;23(2):141-2. doi: 10.1038/13770. Nat Genet. 1999. PMID: 10508505 No abstract available.

8

Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia.

Volk A, Karbasiyan M, Semmler A, Todt U, Urbach H, Klockgether T, Linnebank M. Volk A, et al. Among authors: karbasiyan m. Birth Defects Res A Clin Mol Teratol. 2007 Mar;79(3):249-51. doi: 10.1002/bdra.20340. Birth Defects Res A Clin Mol Teratol. 2007. PMID: 17183586

9

Epigenetic Clock and Relative Telomere Length Represent Largely Different Aspects of Aging in the Berlin Aging Study II (BASE-II).

Vetter VM, Meyer A, Karbasiyan M, Steinhagen-Thiessen E, Hopfenmüller W, Demuth I. Vetter VM, et al. Among authors: karbasiyan m. J Gerontol A Biol Sci Med Sci. 2019 Jan 1;74(1):27-32. doi: 10.1093/gerona/gly184. J Gerontol A Biol Sci Med Sci. 2019. PMID: 30137208

10

Fcγ-receptor IIIA polymorphism p.158F has no negative predictive impact on rituximab therapy with and without sequential chemotherapy in CD20-positive posttransplant lymphoproliferative disorder.

Zimmermann H, Weiland T, Nourse JP, Gandhi MK, Reinke P, Neuhaus R, Karbasiyan M, Gärtner B, Anagnostopoulos I, Riess H, Trappe RU, Oertel S. Zimmermann H, et al. Among authors: karbasiyan m. J Immunol Res. 2014;2014:264723. doi: 10.1155/2014/264723. Epub 2014 Feb 10. J Immunol Res. 2014. PMID: 24741582 Free PMC article. Clinical Trial.

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