Gencik M - Search Results

1

Hereditary hyperferritinemia cataract syndrome: clinical, genetic, and laboratory findings in 5 families.

Nonnenmacher L, Langer T, Blessing H, Gabriel H, Buchwald HJ, Meneksedag C, Kohne E, Gencik M, Debatin KM, Cario H. Nonnenmacher L, et al. Among authors: gencik m. Klin Padiatr. 2011 Nov;223(6):346-51. doi: 10.1055/s-0031-1287825. Epub 2011 Oct 21. Klin Padiatr. 2011. PMID: 22020773

2

First IKBKG gene mutation study in Serbian incontinentia pigmenti patients.

Minić S, Trpinac D, Gabriel H, Gencik M, Obradović M. Minić S, et al. Among authors: gencik m. Srp Arh Celok Lek. 2013 Jul-Aug;141(7-8):490-4. doi: 10.2298/sarh1308490m. Srp Arh Celok Lek. 2013. PMID: 24073555 Free article.

3

Dental and oral anomalies in incontinentia pigmenti: a systematic review.

Minić S, Trpinac D, Gabriel H, Gencik M, Obradović M. Minić S, et al. Among authors: gencik m. Clin Oral Investig. 2013 Jan;17(1):1-8. doi: 10.1007/s00784-012-0721-5. Epub 2012 Mar 28. Clin Oral Investig. 2013. PMID: 22453515 Review.

4

A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity.

Jagiello P, Hammans C, Wieczorek S, Arning L, Stefanski A, Strehl H, Epplen JT, Gencik M. Jagiello P, et al. Among authors: gencik m. Hum Mutat. 2003 Jun;21(6):630-5. doi: 10.1002/humu.10220. Hum Mutat. 2003. PMID: 12754710

5

Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia.

Gencik M, Gencik A, Mortier W, Epplen JT. Gencik M, et al. Among authors: gencik a. Hum Mutat. 2000 Jan;15(1):122. doi: 10.1002/(SICI)1098-1004(200001)15:1<122::AID-HUMU40>3.0.CO;2-A. Hum Mutat. 2000. PMID: 10612851 No abstract available.

6

Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR.

Arning L, Jagiello P, Schara U, Vorgerd M, Dahmen N, Gencikova A, Mortier W, Epplen JT, Gencik M. Arning L, et al. Among authors: gencik m. J Neurol. 2004 Jan;251(1):72-8. doi: 10.1007/s00415-004-0274-x. J Neurol. 2004. PMID: 14999492

7

New genomic region for Wegener's granulomatosis as revealed by an extended association screen with 202 apoptosis-related genes.

Jagiello P, Gencik M, Arning L, Wieczorek S, Kunstmann E, Csernok E, Gross WL, Epplen JT. Jagiello P, et al. Among authors: gencik m. Hum Genet. 2004 Apr;114(5):468-77. doi: 10.1007/s00439-004-1092-z. Epub 2004 Feb 14. Hum Genet. 2004. PMID: 14968360

8

Chorea Huntington: a rare case with childhood onset.

Gencik M, Hammans C, Strehl H, Wagner N, Epplen JT. Gencik M, et al. Neuropediatrics. 2002 Apr;33(2):90-2. doi: 10.1055/s-2002-32367. Neuropediatrics. 2002. PMID: 12075490

9

Gene symbol: RYR1. Disease: malignant hyperthermia.

Dekomien G, Gencik M, Gencikova A, Klenk Y, Epplen JT. Dekomien G, et al. Among authors: gencik m. Hum Genet. 2005 Dec;118(3-4):541. Hum Genet. 2005. PMID: 16521280 No abstract available.

10

Gene symbol: RYR1. Disease: malignant hyperthermia.

Dekomien G, Gencik M, Gencikova A, Klenk Y, Epplen JT. Dekomien G, et al. Among authors: gencik m. Hum Genet. 2005 Dec;118(3-4):541-2. Hum Genet. 2005. PMID: 16521281 No abstract available.

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