Gencik M - Search Results

1

Bimaxillary fixed implant-supported zirconium oxide prosthesis therapy of an adolescent patient with non-syndromic oligodontia and two WNT10 variants: a case report.

Grün P, Pfaffeneder-Mantai F, Leunig N, Bytyqi D, Maier C, Gencik M, Bandura P, Turhani D. Grün P, et al. Among authors: gencik m. Ann Med Surg (Lond). 2024 Mar 19;86(5):3072-3081. doi: 10.1097/MS9.0000000000001936. eCollection 2024 May. Ann Med Surg (Lond). 2024. PMID: 38694351 Free PMC article.

2

Gene Variants Determine Placental Transfer of Perfluoroalkyl Substances (PFAS), Mercury (Hg) and Lead (Pb), and Birth Outcome: Findings From the UmMuKi Bratislava-Vienna Study.

Gundacker C, Graf-Rohrmeister K, Gencik M, Hengstschläger M, Holoman K, Rosa P, Kroismayr R, Offenthaler I, Plichta V, Reischer T, Teufl I, Raffesberg W, Scharf S, Köhler-Vallant B, Delissen Z, Weiß S, Uhl M. Gundacker C, et al. Among authors: gencik m. Front Genet. 2021 Jun 16;12:664946. doi: 10.3389/fgene.2021.664946. eCollection 2021. Front Genet. 2021. PMID: 34220941 Free PMC article.

3

Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation.

Nair P, Sabbagh S, Bizzari S, Brunner F, Stora S, Al-Ali MT, Gencik M, El-Hayek S, Mégarbané A. Nair P, et al. Among authors: gencik m. Mol Syndromol. 2019 Jul;10(4):219-222. doi: 10.1159/000501114. Epub 2019 Jun 28. Mol Syndromol. 2019. PMID: 31602195 Free PMC article.

4

The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency.

Mansour H, Sabbagh S, Bizzari S, El-Hayek S, Chouery E, Gambarini A, Gencik M, Mégarbané A. Mansour H, et al. Among authors: gencik m. J Pediatr Genet. 2019 Sep;8(3):172-178. doi: 10.1055/s-0039-1685172. Epub 2019 Apr 16. J Pediatr Genet. 2019. PMID: 31406627 Free PMC article.

5

Myotonic Dystrophy-2: Unusual Phenotype Due to a Small CCTG-expansion.

J F, C S, A RF, M LG, M G. J F, et al. Among authors: m g. Balkan J Med Genet. 2018 Dec 31;21(2):39-43. doi: 10.2478/bjmg-2018-0024. eCollection 2018 Dec. Balkan J Med Genet. 2018. PMID: 30984523 Free PMC article.

6

A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia.

Milenkovic I, Zimprich A, Gencik M, Platho-Elwischger K, Seidel S. Milenkovic I, et al. Among authors: gencik m. J Neural Transm (Vienna). 2018 Dec;125(12):1877-1883. doi: 10.1007/s00702-018-1924-y. Epub 2018 Sep 4. J Neural Transm (Vienna). 2018. PMID: 30182260

7

Cochlear Implantation in Siblings With Refsum's Disease.

Stähr K, Kuechler A, Gencik M, Arnolds J, Dendy M, Lang S, Arweiler-Harbeck D. Stähr K, et al. Among authors: gencik m. Ann Otol Rhinol Laryngol. 2017 Aug;126(8):611-614. doi: 10.1177/0003489417717269. Epub 2017 Jul 6. Ann Otol Rhinol Laryngol. 2017. PMID: 28681609

8

Familial accumulation of sudden cardiac deaths and the LMNA variant c.868G>A (p.Glu290Lys).

Finsterer J, Stöllberger C, Keller H, Gencik M. Finsterer J, et al. Among authors: gencik m. Int J Cardiol. 2016 Jul 15;215:84-6. doi: 10.1016/j.ijcard.2016.04.047. Epub 2016 Apr 13. Int J Cardiol. 2016. PMID: 27111165 No abstract available.

9

The c.65-2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA.

Cetin H, Wöhrer A, Rittelmeyer I, Gencik M, Zulehner G, Zimprich F, Ströbel T, Zimprich A. Cetin H, et al. Among authors: gencik m. Clin Genet. 2016 Oct;90(4):366-71. doi: 10.1111/cge.12724. Epub 2016 Feb 3. Clin Genet. 2016. PMID: 26748608

10

Hereditary Neuropathy with Liability to Pressure Palsies Masked by Previous Gunshots and Tuberculosis.

Gencik M, Finsterer J. Gencik M, et al. Case Rep Genet. 2015;2015:738469. doi: 10.1155/2015/738469. Epub 2015 Nov 11. Case Rep Genet. 2015. PMID: 26640726 Free PMC article.

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