Varon R - Search Results

1

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.

Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochmüller H, Müllner-Eidenböck A, Merlini L, Neumann L, Bürger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L. Varon R, et al. Nat Genet. 2003 Oct;35(2):185-9. doi: 10.1038/ng1243. Epub 2003 Sep 21. Nat Genet. 2003. PMID: 14517542

2

Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation.

Varon R, Stuhrmann M, Macek M Jr, Kufardjieva A, Angelicheva D, Magdorf K, Jordanova A, Savov A, Wahn U, Macek M, et al. Varon R, et al. Hum Mutat. 1995;6(3):219-25. doi: 10.1002/humu.1380060304. Hum Mutat. 1995. PMID: 8535440

3

MR imaging features in Marinesco-Sjögren syndrome: severe cerebellar atrophy is not an obligatory finding.

Reinhold A, Scheer I, Lehmann R, Neumann LM, Michael T, Varon R, Von Moers A. Reinhold A, et al. Among authors: varon r. AJNR Am J Neuroradiol. 2003 May;24(5):825-8. AJNR Am J Neuroradiol. 2003. PMID: 12748078 Free PMC article. Review.

4

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E, Bushby K, Muntoni F, Ouvrier R, Van Maldergem L, Goemans NM, Lochmüller H, Eichholz S, Adams C, Bosch F, Grattan-Smith P, Navarro C, Neitzel H, Polster T, Topaloğlu H, Steglich C, Guenther UP, Zerres K, Rudnik-Schöneborn S, Hübner C. Grohmann K, et al. Among authors: varon r. Ann Neurol. 2003 Dec;54(6):719-24. doi: 10.1002/ana.10755. Ann Neurol. 2003. PMID: 14681881

5

Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.

Guenther UP, Schuelke M, Bertini E, D'Amico A, Goemans N, Grohmann K, Hübner C, Varon R. Guenther UP, et al. Among authors: varon r. Hum Genet. 2004 Sep;115(4):319-26. doi: 10.1007/s00439-004-1156-0. Hum Genet. 2004. PMID: 15290238

6

Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability.

Seemanová E, Sperling K, Neitzel H, Varon R, Hadac J, Butova O, Schröck E, Seeman P, Digweed M. Seemanová E, et al. Among authors: varon r. J Med Genet. 2006 Mar;43(3):218-24. doi: 10.1136/jmg.2005.035287. Epub 2005 Jul 20. J Med Genet. 2006. PMID: 16033915 Free PMC article.

7

Mild Nijmegen breakage syndrome phenotype due to alternative splicing.

Varon R, Dutrannoy V, Weikert G, Tanzarella C, Antoccia A, Stöckl L, Spadoni E, Krüger LA, di Masi A, Sperling K, Digweed M, Maraschio P. Varon R, et al. Hum Mol Genet. 2006 Mar 1;15(5):679-89. doi: 10.1093/hmg/ddi482. Epub 2006 Jan 13. Hum Mol Genet. 2006. PMID: 16415040

8

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.

Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanová E, Cooper PR, Nowak NJ, Stumm M, Weemaes CM, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P, Reis A. Varon R, et al. Cell. 1998 May 1;93(3):467-76. doi: 10.1016/s0092-8674(00)81174-5. Cell. 1998. PMID: 9590180 Free article.

9

Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome.

Kleier S, Herrmann M, Wittwer B, Varon R, Reis A, Horst J. Kleier S, et al. Among authors: varon r. Clin Genet. 2000 May;57(5):384-7. doi: 10.1034/j.1399-0004.2000.570509.x. Clin Genet. 2000. PMID: 10852373

10

Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations.

Varon R, Seemanova E, Chrzanowska K, Hnateyko O, Piekutowska-Abramczuk D, Krajewska-Walasek M, Sykut-Cegielska J, Sperling K, Reis A. Varon R, et al. Eur J Hum Genet. 2000 Nov;8(11):900-2. doi: 10.1038/sj.ejhg.5200554. Eur J Hum Genet. 2000. PMID: 11093281

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