Andreas Gal

Andreas Gal

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Andreas Gal

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Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype.

Mol Genet Metab 2019 Jul 24. Epub 2019 Jul 24.

Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS/3Bs PT Government Associate Laboratory, Braga/Guimarães, Portugal.

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http://dx.doi.org/10.1016/j.ymgme.2019.07.012DOI Listing
July 2019

Clinical utility gene card for: Fabry disease - update 2016.

Eur J Hum Genet 2017 06 22;25(7):e1-e3. Epub 2017 Mar 22.

Division of Medical Genetics, University of Versailles-St Quentin en Yvelines, Paris Saclay University, Montigny, France.

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http://dx.doi.org/10.1038/ejhg.2017.17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5520062PMC
June 2017

Mutational analysis of the GLA gene in Mexican families with Fabry disease.

J Genet 2017 Mar;96(1):161-164

División de Genética, Centro de Investigación Biomédica de Occidente, IMSS; Doctorado en Genética Humana, Universidad de Guadalajara, Sierra Mojada 800, Col. Independencia, CP. 44340, Guadalajara, Jalisco, México.

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http://dx.doi.org/10.1007/s12041-017-0744-4DOI Listing
March 2017

Ocular signs correlate well with disease severity and genotype in Fabry disease.

PLoS One 2015 17;10(3):e0120814. Epub 2015 Mar 17.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0120814PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4363518PMC
December 2015

Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.

JIMD Rep 2015 6;15:123-32. Epub 2014 May 6.

Metabolic Laboratory, Department of Paediatrics, Institute of Clinical Chemistry, Hamburg University Medical Centre, Martinistr. 52, 20246, Hamburg, Germany.

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http://dx.doi.org/10.1007/8904_2014_308DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270870PMC
December 2014

Sorafenib sensitizes head and neck squamous cell carcinoma cells to ionizing radiation.

Radiother Oncol 2013 Nov 13;109(2):286-92. Epub 2013 Aug 13.

Department of Otorhinolaryngology and Head and Neck Surgery, University Medical Center Hamburg Eppendorf, Germany; Laboratory of Radiobiology & Experimental Radiooncology, University Medical Center Hamburg Eppendorf, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.radonc.2013.07.003DOI Listing
November 2013

Clinical utility gene card for: adrenoleukodystrophy.

Eur J Hum Genet 2012 Mar 9;20(3). Epub 2011 Nov 9.

MVZ Fenner & Krasemann, Hamburg, Germany.

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http://dx.doi.org/10.1038/ejhg.2011.193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3283174PMC
March 2012

Clinical utility gene card for: Fabry disease.

Eur J Hum Genet 2012 Feb 21;20(2). Epub 2011 Sep 21.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1038/ejhg.2011.178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3260919PMC
February 2012

Clinical utility gene card for: mucopolysaccharidosis type II.

Eur J Hum Genet 2012 Jan 24;20(1). Epub 2011 Aug 24.

Center for Child and Adolescent Medicine, University Medical Center Mainz, Mainz, Germany.

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http://dx.doi.org/10.1038/ejhg.2011.143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234511PMC
January 2012

Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.

Am J Med Genet A 2011 Jul 10;155A(7):1634-9. Epub 2011 Jun 10.

Department of Paediatrics, University Medical Center Hamburg-Eppendorf, Germany.

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http://dx.doi.org/10.1002/ajmg.a.34053DOI Listing
July 2011

Talipes equinovarus as leading symptom of congenital myotonic dystrophy type 2.

Muscle Nerve 2011 May 1;43(5):768. Epub 2011 Apr 1.

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http://doi.wiley.com/10.1002/mus.22032
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http://dx.doi.org/10.1002/mus.22032DOI Listing
May 2011

Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.

J Inherit Metab Dis 2011 Apr 13;34(2):509-14. Epub 2011 Jan 13.

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.

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http://link.springer.com/10.1007/s10545-010-9261-9
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http://dx.doi.org/10.1007/s10545-010-9261-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3063537PMC
April 2011

Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa.

Mol Vis 2009 Dec 8;15:2627-33. Epub 2009 Dec 8.

Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2790479PMC
December 2009

Rdh12 activity and effects on retinoid processing in the murine retina.

J Biol Chem 2009 Aug 8;284(32):21468-77. Epub 2009 Jun 8.

Departments of Biological Chemistry, University of Michigan Medical School, Ann Arbor, Michigan 48105, USA.

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http://dx.doi.org/10.1074/jbc.M109.020966DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2755871PMC
August 2009

A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease.

Genet Med 2009 Jun;11(6):441-9

Center for Lysosomal Storage Diseases, Children's Hospital of Johannes Gutenberg University, Mainz, Germany.

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http://dx.doi.org/10.1097/GIM.0b013e3181a23becDOI Listing
June 2009

Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?

Ophthalmic Genet 2009 Jun;30(2):96-8

Institute for Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1080/13816810802695543DOI Listing
June 2009

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

Am J Ophthalmol 2009 Mar 26;147(3):518-530.e1. Epub 2008 Nov 26.

Augenklinik, Charité-Universitätsmedizin Berlin, Germany.

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http://dx.doi.org/10.1016/j.ajo.2008.09.007DOI Listing
March 2009

Does proximal myotonic myopathy show anticipation?

Hum Mutat 2008 Aug;29(8):E100-2

Department of Pediatrics, University Medical Centre Hamburg-Eppendorf, Martinistr. 52, 20246 Hamburg.

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http://dx.doi.org/10.1002/humu.20791DOI Listing
August 2008

Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).

Pediatrics 2007 Nov 15;120(5):e1255-61. Epub 2007 Oct 15.

University Medical Center Hamburg-Eppendorf, Metabolic Center, Department of Pediatrics, Martinistrasse 52, Building N23, 20246 Hamburg, Germany.

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http://dx.doi.org/10.1542/peds.2007-0282DOI Listing
November 2007

L1CAM mutation in a boy with hydrocephalus and duplex kidneys.

Pediatr Nephrol 2007 Jul 10;22(7):1058-61. Epub 2007 Feb 10.

Department of Pediatrics and Adolescent Medicine, University Hospital of Freiburg, Mathildenstrasse 1, 79106, Freiburg, Germany.

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http://link.springer.com/content/pdf/10.1007/s00467-006-0424
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http://link.springer.com/10.1007/s00467-006-0424-8
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http://dx.doi.org/10.1007/s00467-006-0424-8DOI Listing
July 2007

p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness.

Hum Mutat 2007 Jul;28(7):741-2

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/humu.9499DOI Listing
July 2007

The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.

Invest Ophthalmol Vis Sci 2007 Apr;48(4):1824-31

Department of Pathophysiology of Vision and Neuroophthalmology, University Eye Hospital, Schleichstrasse 12-16, D-72076 Tübingen, Germany.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.0
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http://dx.doi.org/10.1167/iovs.06-0628DOI Listing
April 2007

IgA nephropathy in two adolescent sisters heterozygous for Fabry disease.

Pediatr Nephrol 2006 Sep 13;21(9):1251-6. Epub 2006 Jul 13.

Children's Hospital, University of Mainz, Langenbeckstr. 1, 55131, Mainz, Germany.

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http://dx.doi.org/10.1007/s00467-006-0176-5DOI Listing
September 2006

Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitro.

FEBS Lett 2006 Jun 15;580(14):3489-92. Epub 2006 May 15.

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Germany.

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http://dx.doi.org/10.1016/j.febslet.2006.05.026DOI Listing
June 2006

Disease manifestations and X inactivation in heterozygous females with Fabry disease.

Acta Paediatr Suppl 2006 Apr;95(451):30-8

Research Centre, Department of Biochemical Genetics and Molecular Biology, Dr von Hauner Children's Hospital, Ludwig-Maximilian University, Munich, Germany.

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http://dx.doi.org/10.1080/08035320600618809DOI Listing
April 2006

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

Hum Mol Genet 2005 Dec 3;14(24):3865-75. Epub 2005 Nov 3.

Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor 48105, USA, and Unidad de Genética Médica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocío, Seville, Spain.

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http://dx.doi.org/10.1093/hmg/ddi411DOI Listing
December 2005

Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies.

Mol Vis 2005 Nov 3;11:929-33. Epub 2005 Nov 3.

Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.

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November 2005

Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation.

J Nephrol 2005 May-Jun;18(3):312-7

Department of Nephrology, University Hospital Hamburg-Eppendorf, Hamburg, Germany.

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October 2005

Novel mutations and repeated findings of mutations in familial Alzheimer disease.

Neurogenetics 2005 May 18;6(2):85-9. Epub 2005 Mar 18.

Institute of Human Genetics, University Hospital Hamburg-Eppendorf, University of Hamburg, Butenfeld 42, 22529 Hamburg, Germany.

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http://dx.doi.org/10.1007/s10048-005-0211-xDOI Listing
May 2005

Mucopolysaccharidosis type II in females: case report and review of literature.

Pediatr Neurol 2005 Apr;32(4):270-2

Department of General Pediatrics, University Children's Hospital Vienna, Austria.

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http://dx.doi.org/10.1016/j.pediatrneurol.2004.10.009DOI Listing
April 2005

Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.

Hum Mutat 2005 Mar;25(3):321-2

Institute of Human Genetics, University Hospital Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/humu.9314DOI Listing
March 2005

Pediatric Fabry disease.

Pediatrics 2005 Mar 15;115(3):e344-55. Epub 2005 Feb 15.

Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 3D03, Bethesda, MD 20892-1260, USA.

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http://dx.doi.org/10.1542/peds.2004-1678DOI Listing
March 2005

AlphaPIX associates with calpain 4, the small subunit of calpain, and has a dual role in integrin-mediated cell spreading.

J Biol Chem 2005 Feb 20;280(8):6879-89. Epub 2004 Dec 20.

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, D-22529 Hamburg, Germany.

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http://dx.doi.org/10.1074/jbc.M412119200DOI Listing
February 2005

A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype.

Am J Med Genet A 2005 Feb;132A(4):386-90

Department of Medical Genetics, Medical University, Plovdiv, Bulgaria.

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http://dx.doi.org/10.1002/ajmg.a.30484DOI Listing
February 2005

Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11).

Hum Mutat 2004 Sep;24(3):274-5

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Butenfeld 42, Hamburg, Germany.

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http://dx.doi.org/10.1002/humu.9272DOI Listing
September 2004

Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndrome.

Genomics 2004 May;83(5):883-92

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Butenfeld 42, 22529 Hamburg, Germany.

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http://dx.doi.org/10.1016/j.ygeno.2003.10.012DOI Listing
May 2004

MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells.

Invest Ophthalmol Vis Sci 2004 May;45(5):1456-63

Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan 48105, USA.

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http://dx.doi.org/10.1167/iovs.03-0909DOI Listing
May 2004

Advanced renal insufficiency in a 34-year-old man with Lowe syndrome.

Am J Kidney Dis 2004 Mar;43(3):538-43

Department of Medicine, Division of Nephrology, University Hospital, Würzburg, Germany.

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http://dx.doi.org/10.1053/j.ajkd.2003.11.013DOI Listing
March 2004

Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6.

Hear Res 2004 Feb;188(1-2):42-6

Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1016/S0378-5955(03)00346-0DOI Listing
February 2004

The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.

Eur J Pediatr 2003 Nov 20;162(11):767-72. Epub 2003 Sep 20.

Centre for Lysosomal Storage Disorders, Children's Hospital, Johannes Gutenberg-University, 55101 Mainz, Germany.

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http://link.springer.com/10.1007/s00431-003-1299-3
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http://dx.doi.org/10.1007/s00431-003-1299-3DOI Listing
November 2003

Genetic defects in vitamin A metabolism of the retinal pigment epithelium.

Dev Ophthalmol 2003 ;37:141-54

Departments of Ophthalmology and Visual Sciences, and Biological Chemistry, University of Michigan Medical School, Ann Arbor, Mich., USA.

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September 2003

Vitamin A metabolism in the retinal pigment epithelium: genes, mutations, and diseases.

Prog Retin Eye Res 2003 Sep;22(5):683-703

Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, MI 48105, USA.

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September 2003

[Hereditary foveal hypoplasia - clinical differentiation].

Klin Monbl Augenheilkd 2003 Aug;220(8):559-62

Sehschule der Augenabteilung, Klinikum Nord, Hamburg, Germany.

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http://dx.doi.org/10.1055/s-2003-41874DOI Listing
August 2003

Role of cadherins in Ca2+-mediated cell adhesion and inherited photoreceptor degeneration.

Adv Exp Med Biol 2002 ;514:399-410

Institut für Humangenetik, Universitatsklinikum Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1007/978-1-4615-0121-3_24DOI Listing
July 2003

Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling.

Hum Mol Genet 2003 Jan;12(2):155-67

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Butenfeld 42, 22529 Hamburg, Germany.

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http://dx.doi.org/10.1093/hmg/ddg019DOI Listing
January 2003

Cardiac manifestations of Anderson-Fabry disease in heterozygous females.

J Am Coll Cardiol 2002 Nov;40(9):1668-74

Division of Cardiology, University Children's Hospital, Johannes Gutenberg University, Langenbeckstrasse 1, D-55131 Mainz, Germany.

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http://dx.doi.org/10.1016/s0735-1097(02)02380-xDOI Listing
November 2002

Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes.

Hum Mutat 2002 May;19(5):526-35

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/humu.10072DOI Listing
May 2002

No association between DCP1 genotype and late-onset Alzheimer disease.

Am J Med Genet 2002 May;114(4):440-5

Department of Human Genetics, University Hospital Hamburg-Eppendorf, University of Hamburg, Hamburg, Germany.

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http://dx.doi.org/10.1002/ajmg.10306DOI Listing
May 2002

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

Hum Mutat 2002 Mar;19(3):268-73

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/humu.10049DOI Listing
March 2002