Publications by authors named "Andreas Gal"

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Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype.
Olga Azevedo, Andreas Gal, Rui Faria, Paulo Gaspar, Gabriel Miltenberger-Miltenyi

Mol Genet Metab· February 2020

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A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita.
Judith Gerards, Michael M Ritter, Elke Kaminsky, Andreas Gal, Wolfgang Hoeppner

Endocrinol Diabetes Metab Case Rep· September 2017

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Clinical utility gene card for: Fabry disease - update 2016.
Andreas Gal, Michael Beck, Wolfgang Höppner, Dominique P Germain

Eur J Hum Genet· June 2017

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Mutational analysis of the GLA gene in Mexican families with Fabry disease.
Bianca Ethel Gutiérrez-Amavizca, Andreas Gal, Rocío Ortíz-Orozco, Ulrich Orth, Ernesto Prado Montes De Oca

J Genet· March 2017

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Ocular signs correlate well with disease severity and genotype in Fabry disease.
Susanne Pitz, Gisela Kalkum, Laila Arash, Nesrin Karabul, Andrea Sodi, Andreas Gal

PLoS One· December 2015

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EGFRvIII does not affect radiosensitivity with or without gefitinib treatment in glioblastoma cells.
Nina Struve, Matthias Riedel, Alexander Schulte, Thorsten Rieckmann, Tobias J Grob, Andreas Gal

Oncotarget· October 2015

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Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa.
Bastian Linder, Anja Hirmer, Andreas Gal, Klaus Rüther, Hanno Jörn Bolz

PLoS One· July 2015

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Radiosensitization of NSCLC cells by EGFR inhibition is the result of an enhanced p53-dependent G1 arrest.
Malte Kriegs, Kristin Gurtner, Yildiz Can, Ingo Brammer, Thorsten Rieckmann, Andreas Gal

Radiother Oncol· April 2015

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OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).
Michaela Thoenes, Ulrike Zimmermann, Inga Ebermann, Martin Ptok, Morag A Lewis, Andreas Gal

Orphanet J Rare Dis· February 2015

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Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.
Paulina Nieves Cobos, Cordula Steglich, René Santer, Zoltan Lukacs, Andreas Gal

JIMD Rep· December 2014

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Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Tobias Eisenberger, Christine Neuhaus, Arif O Khan, Christian Decker, Markus N Preising, Alberto Galvez, Andreas Gal

PLoS One· September 2014

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Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.
Uwe Kornak, Inès Mademan, Marte Schinke, Martin Voigt, Peter Krawitz, Andreas Gal

Brain· March 2014

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Sorafenib sensitizes head and neck squamous cell carcinoma cells to ionizing radiation.
Simon Laban, Leonhard Steinmeister, Lisa Gleißner, Tobias J Grob, Reidar Grénman, Andreas Gal

Radiother Oncol· November 2013

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Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.
Raul E Piña-Aguilar, Gerardo R Zaragoza-Arévalo, Isabella Rau, Andreas Gal, Miguel A Alcántara-Ortigoza

Eur J Med Genet· March 2013

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A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
Claudia Dufke, Nina Schlipf, Rebecca Schüle, Michael Bonin, Michaela Auer-Grumbach, Andreas Gal

Neurogenetics· August 2012

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Clinical utility gene card for: adrenoleukodystrophy.
Ernst Krasemann, Stephan Kemp, Andreas Gal

Eur J Hum Genet· March 2012

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Clinical utility gene card for: Fabry disease.
Andreas Gal, Michael Beck, Bryan Winchester

Eur J Hum Genet· February 2012

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Clinical utility gene card for: mucopolysaccharidosis type II.
Michael Beck, Frits A Wijburg, Andreas Gal

Eur J Hum Genet· January 2012

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Ccdc66 null mutation causes retinal degeneration and dysfunction.
Wanda M Gerding, Sabrina Schreiber, Tobias Schulte-Middelmann, Andreia de Castro Marques, Jenny Atorf, Andreas Gal

Hum Mol Genet· September 2011

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Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.
Nicole Muschol, Sandra Pohl, Ann Meyer, Andreas Gal, Kurt Ullrich

Am J Med Genet A· July 2011

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Talipes equinovarus as leading symptom of congenital myotonic dystrophy type 2.
Bernd Kruse, Andreas Gal

Muscle Nerve· May 2011

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Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
Antje K Huebner, Marta Gandia, Peter Frommolt, Anika Maak, Eva M Wicklein, Andreas Gal

Am J Hum Genet· May 2011

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Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.
Andreas Gal, Derralynn A Hughes, Bryan Winchester

J Inherit Metab Dis· April 2011

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Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.
Andreas Gal, Isabella Rau, Leila El Matri, Hans-Jürgen Kreienkamp, Susanne Fehr

Am J Hum Genet· March 2011

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Risk gene variants for nicotine dependence in the CHRNA5-CHRNA3-CHRNB4 cluster are associated with cognitive performance.
Georg Winterer, Kirstin Mittelstrass, Ina Giegling, Claudia Lamina, Christoph Fehr, Jürgen Gallinat, Andreas Gal

Am J Med Genet B Neuropsychiatr Genet· December 2010

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