Varon R - Search Results

1

Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.

Guenther UP, Varon R, Schlicke M, Dutrannoy V, Volk A, Hübner C, von Au K, Schuelke M. Guenther UP, et al. Among authors: varon r. Hum Mutat. 2007 Aug;28(8):808-15. doi: 10.1002/humu.20525. Hum Mutat. 2007. PMID: 17431882

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

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

4

Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Rudnik-Schöneborn S, Stolz P, Varon R, Grohmann K, Schächtele M, Ketelsen UP, Stavrou D, Kurz H, Hübner C, Zerres K. Rudnik-Schöneborn S, et al. Among authors: varon r. Neuropediatrics. 2004 Jun;35(3):174-82. doi: 10.1055/s-2004-820994. Neuropediatrics. 2004. PMID: 15248100

5

'Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency: spinal muscular atrophy with respiratory distress type 1 (SMARD1)'.

Appleton RE, Hübner C, Grohmann K, Varon R. Appleton RE, et al. Among authors: varon r. Dev Med Child Neurol. 2004 Aug;46(8):576. doi: 10.1017/s0012162204000970. Dev Med Child Neurol. 2004. PMID: 15287252 Free article. No abstract available.

6

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

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

A new mutation of IGHMBP2 gene.

Guenther UP, Schuelke M, Grohmann K, Varon R. Guenther UP, et al. Among authors: varon r. Pediatr Neurol. 2006 Feb;34(2):168. doi: 10.1016/j.pediatrneurol.2005.10.009. Pediatr Neurol. 2006. PMID: 16458836 No abstract available.

9

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: varon r. 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

10

Sporadic ALS with early-onset respiratory failure is not associated with IGHMBP2 gene mutations.

Kühnlein P, Sperfeld AD, Endruhn S, Varon R, Ludolph AC, Hübner C. Kühnlein P, et al. Among authors: varon r. J Neurol Neurosurg Psychiatry. 2008 Jun;79(6):737-8. doi: 10.1136/jnnp.2007.139006. Epub 2008 Jan 10. J Neurol Neurosurg Psychiatry. 2008. PMID: 18187479 No abstract available.

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