Publications by authors named "Martin Gencik"

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Two novel variants of SPINK5 mutations in a boy with ichthyosis linearis circumflexa and atopy.
Thilo Gambichler, Martin Gencik, Jacqueline Schmidt, Patricia Kekelyova, Stefanie Boms

Clin Exp Dermatol· June 2025

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Bimaxillary fixed implant-supported zirconium oxide prosthesis therapy of an adolescent patient with non-syndromic oligodontia and two WNT10 variants: a case report.
Pascal Grün, Florian Pfaffeneder-Mantai, Nikolai Leunig, Ditjon Bytyqi, Cornelia Maier, Martin Gencik

Ann Med Surg (Lond)· May 2024

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Gene Variants Determine Placental Transfer of Perfluoroalkyl Substances (PFAS), Mercury (Hg) and Lead (Pb), and Birth Outcome: Findings From the UmMuKi Bratislava-Vienna Study.
Claudia Gundacker, Klaudia Graf-Rohrmeister, Martin Gencik, Markus Hengstschläger, Karol Holoman

Front Genet· June 2021

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The Lebanese Allele in the Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency.
Hicham Mansour, Sandra Sabbagh, Sami Bizzari, Stephany El-Hayek, Eliane Chouery, Martin Gencik

J Pediatr Genet· September 2019

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Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation.
Pratibha Nair, Sandra Sabbagh, Sami Bizzari, Florian Brunner, Samantha Stora, Martin Gencik

Mol Syndromol· July 2019

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A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia.
Ivan Milenkovic, Alexander Zimprich, Martin Gencik, Kirsten Platho-Elwischger, Stefan Seidel

J Neural Transm (Vienna)· December 2018

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Cochlear Implantation in Siblings With Refsum's Disease.
Kerstin Stähr, Alma Kuechler, Martin Gencik, Judith Arnolds, Meaghan Dendy

Ann Otol Rhinol Laryngol· August 2017

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Familial accumulation of sudden cardiac deaths and the LMNA variant c.868G>A (p.Glu290Lys).
Josef Finsterer, Claudia Stöllberger, Hans Keller, Martin Gencik

Int J Cardiol· July 2016

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Hereditary Neuropathy with Liability to Pressure Palsies Masked by Previous Gunshots and Tuberculosis.
Martin Gencik, Josef Finsterer

Case Rep Genet· December 2015

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First IKBKG gene mutation study in Serbian incontinentia pigmenti patients.
Snezana Minić, Dusan Trpinac, Heinz Gabriel, Martin Gencik, Miljana Obradović

Srp Arh Celok Lek· November 2015

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Syncope and hyperCKemia as minimal manifestations of short CTG repeat expansions in myotonic dystrophy type 1.
Josef Finsterer, Claudia Stöllberger, Martin Gencik, Romana Höftberger, Jasmin Rahimi

Rev Port Cardiol· May 2015

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Recurrent takotsubo syndrome in a patient with myotonic dystrophy 1.
Josef Finsterer, Claudia Stöllberger, Dita Demirtas, Martin Gencik, Irene Ohnutek

Acute Card Care· December 2014

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Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.
Carole Corsini, Martin Gencik, Marjolaine Willems, Eva Decker, Elodie Sanchez

Eur J Hum Genet· January 2014

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Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome).
Claire Searle, Rosalyn Jewell, Jeannette Kraft, Petra Stoebe, Paul Chumas, Martin Gencik

Clin Dysmorphol· January 2014

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Non-lethal non-mosaic male with Conradi-Hunermann syndrome caused by a novel EBP c.356T>G mutation.
Harald Bode, Christoph Galm, Helmut Hummler, Christopher Teller, Dorothea Haas, Martin Gencik

Am J Med Genet A· September 2013

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Noncompaction predisposing for recurrent Takotsubo syndrome in myotonic dystrophy 1.
Josef Finsterer, Claudia Stöllberger, Anette Hornykewycz, Martin Gencik

Int J Cardiol· September 2013

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On the edge of noncompaction: minimally manifesting Duchenne carrier due to the dystrophin mutation n.2867A>C.
Josef Finsterer, Claudia Stöllberger, Zoja Vlckova, Martin Gencik

Int J Cardiol· May 2013

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Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate.
Sascha Meyer, Günther Löffler, Martin Gencik, Peter Fries, Panagiotis Papanagiotou

Am J Med Genet A· March 2013

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Dental and oral anomalies in incontinentia pigmenti: a systematic review.
Snežana Minić, Dušan Trpinac, Heinz Gabriel, Martin Gencik, Miljana Obradović

Clin Oral Investig· January 2013

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Rapidly progressive phenotype of Lafora disease associated with a novel NHLRC1 mutation.
Florian A Brackmann, Alexander Kiefer, Abbas Agaimy, Martin Gencik, Regina Trollmann

Pediatr Neurol· June 2011

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The relevance of the individual genetic background for the toxicokinetics of two significant neurodevelopmental toxicants: mercury and lead.
Claudia Gundacker, Martin Gencik, Markus Hengstschläger

Mutat Res· October 2010

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Genetic background of lead and mercury metabolism in a group of medical students in Austria.
Claudia Gundacker, Karl J Wittmann, Martina Kukuckova, Günter Komarnicki, Imrich Hikkel, Martin Gencik

Environ Res· August 2009

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A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication.
Beata Kazek, Ewa Jamroz, Martin Gencik, Aleksandra Jezela Stanek, Elzbieta Marszal

J Child Neurol· November 2007

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Glutathione-S-transferase polymorphism, metallothionein expression, and mercury levels among students in Austria.
Claudia Gundacker, Günter Komarnicki, Peter Jagiello, Alexandra Gencikova, Norbert Dahmen, Martin Gencik

Sci Total Environ· October 2007

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Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR.
Larissa Arning, Peter Jagiello, Ulrike Schara, Matthias Vorgerd, Norbert Dahmen, Alexandra Gencikova, Martin Gencik

J Neurol· January 2004

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