Johannes Zschocke

Johannes Zschocke

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Johannes Zschocke

Publications by authors named "Johannes Zschocke"

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Impaired epidermal barrier in autosomal recessive congenital ichthyosis (ARCI) caused by missense mutations in SDR9C7 in two Austrian sisters.

J Dtsch Dermatol Ges 2019 Jul 23;17(7):742-745. Epub 2019 Apr 23.

Department of Dermatology, Venerology and Allergology, Medical University of Innsbruck, Austria.

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http://dx.doi.org/10.1111/ddg.13843DOI Listing
July 2019

Gestörte Hautbarriere bei zwei österreichischen Schwestern mit autosomal-rezessiver kongenitaler Ichthyose (ARCI) verursacht durch eine Missense-Mutation in SDR9C7.

J Dtsch Dermatol Ges 2019 Jul;17(7):742-745

Universitätsklinik für Dermatologie, Venerologie und Allergologie, Medizinische Universität Innsbruck, Österreich.

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http://dx.doi.org/10.1111/ddg.13843_gDOI Listing
July 2019

PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 Jun 5. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
June 2019

Membrane Sphingolipids Regulate the Fitness and Antifungal Protein Susceptibility of .

Front Microbiol 2019 11;10:605. Epub 2019 Apr 11.

Division of Molecular Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.3389/fmicb.2019.00605DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6471014PMC
April 2019

Periodontal Ehlers-Danlos syndrome is associated with leukoencephalopathy.

Neurogenetics 2019 03 8;20(1):1-8. Epub 2018 Dec 8.

Department of Child Neurology and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.

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http://link.springer.com/10.1007/s10048-018-0560-x
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http://dx.doi.org/10.1007/s10048-018-0560-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411670PMC
March 2019

Genotype and phenotype variability in Sjögren-Larsson syndrome.

Hum Mutat 2019 Feb 26;40(2):177-186. Epub 2018 Nov 26.

Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.

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http://doi.wiley.com/10.1002/humu.23679
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http://dx.doi.org/10.1002/humu.23679DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587760PMC
February 2019

A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature.

Eur J Med Genet 2018 Oct 29. Epub 2018 Oct 29.

Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Peter-Mayr-Straße 1, A-6020 Innsbruck, Austria. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183025
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http://dx.doi.org/10.1016/j.ejmg.2018.10.016DOI Listing
October 2018

High risk of peri-implant disease in periodontal Ehlers-Danlos Syndrome. A case series.

Clin Oral Implants Res 2018 Sep 25. Epub 2018 Sep 25.

Department of Operative and Restorative Dentistry, Medical University of Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1111/clr.13373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282529PMC
September 2018

Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations.

Orphanet J Rare Dis 2018 08 3;13(1):130. Epub 2018 Aug 3.

Growth and Development Research Center, Division of Endocrinology and metabolism, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

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http://dx.doi.org/10.1186/s13023-018-0876-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6091055PMC
August 2018

ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.

Brain 2018 06;141(6):e49

Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, and Center for Rare Disorders, Heidelberg University Hospital, Heidelberg, Germany.

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https://academic.oup.com/brain/article/141/6/e49/4969523
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http://dx.doi.org/10.1093/brain/awy095DOI Listing
June 2018

Biochemical Characterization of AGMO Variants Implicated in Relapses in Visceral Leishmaniasis.

J Infect Dis 2018 05;217(11):1846-1847

Division of Biological Chemistry, Biocenter, Medical University of Innsbruck, Austria.

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http://dx.doi.org/10.1093/infdis/jiy090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5946819PMC
May 2018

Molecular structural diversity of mitochondrial cardiolipins.

Proc Natl Acad Sci U S A 2018 04 4;115(16):4158-4163. Epub 2018 Apr 4.

Division of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, Austria;

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http://dx.doi.org/10.1073/pnas.1719407115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910844PMC
April 2018

Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency.

J Inherit Metab Dis 2018 01 13;41(1):39-47. Epub 2017 Oct 13.

Centre for Paediatric and Adolescent Medicine, University of Heidelberg, Im Neuenheimer Feld 669, 69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-017-0099-2DOI Listing
January 2018

Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiency.

J Neurol Sci 2017 Dec 6;383:123-127. Epub 2017 Nov 6.

Division of Nephrology and Dialysis, Department of Medicine III, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1016/j.jns.2017.10.035DOI Listing
December 2017

Periodontal manifestations of Ehlers-Danlos syndromes: A systematic review.

J Clin Periodontol 2017 Nov 25;44(11):1088-1100. Epub 2017 Sep 25.

Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1111/jcpe.12807DOI Listing
November 2017

Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review.

Brain Dev 2017 Sep 21;39(8):714-716. Epub 2017 Apr 21.

Division of Endocrinology and Metabolism, Department of Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2017.04.007DOI Listing
September 2017

Variable expressivity of TCTEX1D2 mutations and a possible pathogenic link of molar-incisor malformation to ciliary dysfunction.

Arch Oral Biol 2017 Aug 20;80:222-228. Epub 2017 Apr 20.

Department of Operative and Restorative Dentistry, Medical University of Innsbruck, Anichstrasse 35, 6020 Innsbruck, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.archoralbio.2017.04.009DOI Listing
August 2017

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.

J Inherit Metab Dis 2017 01 16;40(1):75-101. Epub 2016 Nov 16.

Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://link.springer.com/10.1007/s10545-016-9999-9
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http://dx.doi.org/10.1007/s10545-016-9999-9DOI Listing
January 2017

MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report.

Am J Kidney Dis 2016 Dec 24;68(6):949-953. Epub 2016 Sep 24.

Department of Internal Medicine III-Cardiology and Angiology, Medical University Innsbruck, Innsbruck, Austria.

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https://linkinghub.elsevier.com/retrieve/pii/S02726386163041
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http://dx.doi.org/10.1053/j.ajkd.2016.06.027DOI Listing
December 2016

PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1.

Eur J Hum Genet 2016 11 22;24(11):1598-1604. Epub 2016 Jun 22.

Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1038/ejhg.2016.75DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110070PMC
November 2016

The COMTp.Val158Met Polymorphism and Cognitive Performance in Adult Development, Healthy Aging and Mild Cognitive Impairment.

Dement Geriatr Cogn Disord 2016 22;41(1-2):27-34. Epub 2015 Oct 22.

Section of Geriatric Psychiatry, University of Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1159/000439585DOI Listing
September 2016

The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin.

Eur J Pediatr 2016 Aug 5;175(8):1123-8. Epub 2016 Feb 5.

Division of Metabolic Diseases, Department of Woman and Child Health, University Hospital of Padua, Padua, Italy.

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http://dx.doi.org/10.1007/s00431-016-2699-5DOI Listing
August 2016

Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest.

J Inherit Metab Dis 2016 05 1;39(3):327-329. Epub 2016 Apr 1.

Mitochondrial Research Group, Genetics and Genomic Medicine, UCL Institute of Child Health, and Metabolic Department, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1007/s10545-016-9931-3DOI Listing
May 2016

17β-Hydroxysteroid dehydrogenase type 10 predicts survival of patients with colorectal cancer and affects mitochondrial DNA content.

Cancer Lett 2016 Apr 13;374(1):149-155. Epub 2016 Feb 13.

Division of Human Genetics, Medical University Innsbruck, Peter Mayr Straße 1, 6020 Innsbruck, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.canlet.2016.02.011DOI Listing
April 2016

Peer review fraud-it's not big and it's not clever.

J Inherit Metab Dis 2016 Jan 11;39(1):1-2. Epub 2015 Dec 11.

Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1007/s10545-015-9905-xDOI Listing
January 2016

Intrinsic carnosine metabolism in the human kidney.

Amino Acids 2015 Dec 24;47(12):2541-50. Epub 2015 Jul 24.

Department of Pathology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.

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http://dx.doi.org/10.1007/s00726-015-2045-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4633449PMC
December 2015

Carnosine metabolism in diabetes is altered by reactive metabolites.

Amino Acids 2015 Nov 17;47(11):2367-76. Epub 2015 Jun 17.

Centre for Paediatric and Adolescence Medicine, University of Heidelberg, Heidelberg, Germany.

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http://link.springer.com/10.1007/s00726-015-2024-z
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http://dx.doi.org/10.1007/s00726-015-2024-zDOI Listing
November 2015

Quo vadis: the re-definition of "inborn metabolic diseases".

J Inherit Metab Dis 2015 Nov 29;38(6):1003-6. Epub 2015 Sep 29.

Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1007/s10545-015-9893-xDOI Listing
November 2015

A novel therapeutic approach for LPIN1 mutation-associated rhabdomyolysis--The Austrian experience.

Muscle Nerve 2015 Sep 24;52(3):437-9. Epub 2015 Jul 24.

Department of Pediatrics, Clinic for Pediatrics I, Medical University of Innsbruck, Anichstrasse 35, A-6020, Innsbruck, Austria.

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http://dx.doi.org/10.1002/mus.24749DOI Listing
September 2015

AGO Austria recommendations for genetic testing of patients with ovarian cancer.

Wien Klin Wochenschr 2015 Aug;127(15-16):652-4

Clinic for Gynecology and Obstetrics, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria,

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http://dx.doi.org/10.1007/s00508-015-0814-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536270PMC
August 2015

"Crossing borders" SSIEM 2014 annual symposium in Innsbruck.

J Inherit Metab Dis 2015 Jul;38(4):619

Clinic for Pediatrics I, Inherited Metabolic Diseases, Medical University of Innsbruck , Anichstrasse 35, Innsbruck, 6020, Austria,

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http://dx.doi.org/10.1007/s10545-015-9875-zDOI Listing
July 2015

ALG8-CDG: novel patients and review of the literature.

Orphanet J Rare Dis 2015 Jun 12;10:73. Epub 2015 Jun 12.

Medical University of Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders, Anichstrasse 35, 6020, Innsbruck, Austria.

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http://dx.doi.org/10.1186/s13023-015-0289-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4504351PMC
June 2015

A concept of a MIABIS based register of biosample collections at the Medical University of Innsbruck.

Stud Health Technol Inform 2014 ;205:293-7

Department of Medical Informatics, Statistics and Health Economics, Medical University, Innsbruck.

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May 2015

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations.

J Inherit Metab Dis 2015 May 16;38(3):459-66. Epub 2014 Dec 16.

Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC, 3052, Australia,

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http://dx.doi.org/10.1007/s10545-014-9801-9DOI Listing
May 2015

Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.

J Med Genet 2015 Mar 16;52(3):175-85. Epub 2015 Jan 16.

Department of Molecular Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2014-102621DOI Listing
March 2015

Genotype-based databases for variants causing rare diseases.

Gene 2014 Oct 8;550(1):136-40. Epub 2014 Aug 8.

Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2014.08.016DOI Listing
October 2014

Don't miss patients with atypical FMR1 mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1 full mutation.

Eur J Pediatr 2014 Sep 17;173(9):1257-61. Epub 2014 Jul 17.

Clinical Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria,

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http://dx.doi.org/10.1007/s00431-014-2375-6DOI Listing
September 2014

Formation of a familial ring chromosome 18 investigated by SNP-array analysis.

Am J Med Genet A 2014 Jul 26;164A(7):1854-6. Epub 2014 Mar 26.

Department of Clinical Genetics, Ihsan Doğramaci Children's Hospital, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.36496DOI Listing
July 2014

The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource.

Mol Genet Metab 2014 Apr 24;111(4):428-38. Epub 2014 Jan 24.

Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, Canada; Treatable Intellectual Disability Endeavor in British Columbia (TIDE-BC (TIDE-BC, www.tidebc.org)), Canada.

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http://dx.doi.org/10.1016/j.ymgme.2014.01.011DOI Listing
April 2014

A survey of tools for variant analysis of next-generation genome sequencing data.

Brief Bioinform 2014 Mar 21;15(2):256-78. Epub 2013 Jan 21.

Division for Bioinformatics, Innsbruck Medical University, Innrain 80, 6020 Innsbruck, Austria. Tel.: +43-512-9003-71401; Fax: +43-512-9003-73100;

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http://dx.doi.org/10.1093/bib/bbs086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3956068PMC
March 2014

Does low serum carnosinase activity favor high-intensity exercise capacity?

J Appl Physiol (1985) 2014 Mar 9;116(5):553-9. Epub 2014 Jan 9.

Department of Movement and Sports Sciences, Ghent University, Ghent, Belgium;

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http://dx.doi.org/10.1152/japplphysiol.01218.2013DOI Listing
March 2014

Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22.

Am J Med Genet A 2013 Dec 24;161A(12):3176-81. Epub 2013 Sep 24.

Department of Pediatrics, Landeskrankenhaus Feldkirch, Academic Teaching Hospital, Austria.

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http://dx.doi.org/10.1002/ajmg.a.36176DOI Listing
December 2013

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.

J Inherit Metab Dis 2013 Nov 8;36(6):923-8. Epub 2013 Jan 8.

Nijmegen Centre for Mitochondrial Disorders at the Department of Pediatrics, Institute of Genetic and Metabolic Disease, Nijmegen, The Netherlands,

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http://dx.doi.org/10.1007/s10545-012-9580-0DOI Listing
November 2013

Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.

Eur J Hum Genet 2013 Oct 20;21(10):1177-80. Epub 2013 Feb 20.

Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria.

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http://www.nature.com/articles/ejhg201318
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http://dx.doi.org/10.1038/ejhg.2013.18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778356PMC
October 2013

Slow growth of hair and nails, craniofacial abnormalities and brachyphalangy.

J Dtsch Dermatol Ges 2013 Oct 13;11(10):1023-5. Epub 2013 May 13.

Center of Medical Genetics Innsbruck, Medical University of Innsbruck, Austria.

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http://dx.doi.org/10.1111/ddg.12116DOI Listing
October 2013

Single-nucleotide polymorphism array-based characterization of ring chromosome 18.

J Pediatr 2013 Oct 19;163(4):1174-8.e3. Epub 2013 Jul 19.

Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria.

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http://dx.doi.org/10.1016/j.jpeds.2013.06.005DOI Listing
October 2013

Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome.

Hum Mol Genet 2013 Sep 23;22(18):3761-72. Epub 2013 May 23.

Department of Pediatrics I, Division of Human Genetics, Innsbruck Medical University, Anichstrasse 35, Innsbruck, Austria.

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http://dx.doi.org/10.1093/hmg/ddt227DOI Listing
September 2013

Single nucleotide polymorphism array analysis in men with idiopathic azoospermia or oligoasthenozoospermia syndrome.

Fertil Steril 2013 Jul 8;100(1):81-7. Epub 2013 Apr 8.

Department of Medical Genetics, Molecular and Clinical Pharmacology, Division of Human Genetics, Innsbruck Medical University, Innsbruck, Austria.

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http://ac.els-cdn.com/S0015028213004172/1-s2.0-S001502821300
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http://linkinghub.elsevier.com/retrieve/pii/S001502821300417
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http://dx.doi.org/10.1016/j.fertnstert.2013.03.016DOI Listing
July 2013

Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism.

Eur J Med Genet 2013 Jul 19;56(7):383-8. Epub 2013 Apr 19.

Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Schoepfstr. 41, A-6020 Innsbruck, Austria.

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http://dx.doi.org/10.1016/j.ejmg.2013.04.003DOI Listing
July 2013

Genetic basis of hyperlysinemia.

Orphanet J Rare Dis 2013 Apr 9;8:57. Epub 2013 Apr 9.

Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam, AZ 1105, The Netherlands.

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http://dx.doi.org/10.1186/1750-1172-8-57DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3626681PMC
April 2013

Inherited ichthyoses/generalized Mendelian disorders of cornification.

Eur J Hum Genet 2013 Feb 27;21(2):123-33. Epub 2012 Jun 27.

Department of Dermatology and Venereology, Innsbruck Medical University, Innsbruck, Austria.

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http://www.nature.com/articles/ejhg2012121
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http://dx.doi.org/10.1038/ejhg.2012.121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548255PMC
February 2013

Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype.

Am J Med Genet A 2012 Sep 20;158A(9):2239-44. Epub 2012 Jul 20.

Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria.

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http://dx.doi.org/10.1002/ajmg.a.35450DOI Listing
September 2012

Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.

Ann Hum Genet 2012 Jul 21;76(4):326-31. Epub 2012 May 21.

Department of Medical Genetics, Molecular and Clinical Pharmacology, Division of Human Genetics, Medical University Innsbruck, Austria.

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http://dx.doi.org/10.1111/j.1469-1809.2012.00710.xDOI Listing
July 2012

Carnosine treatment largely prevents alterations of renal carnosine metabolism in diabetic mice.

Amino Acids 2012 Jun 11;42(6):2411-6. Epub 2011 Aug 11.

Division of Metabolic Diseases, Centre for Pediatric and Adolescent Medicine, Im Neuenheimer Feld 153, 69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s00726-011-1046-4DOI Listing
June 2012

Microdeletion 19p13.2 in an almost 5-year-old boy.

Am J Med Genet A 2012 May 9;158A(5):1190-4. Epub 2012 Apr 9.

Clinical Department of Pediatrics IV, Innsbruck Medical University, Innsbruck, Austria.

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http://doi.wiley.com/10.1002/ajmg.a.35291
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http://dx.doi.org/10.1002/ajmg.a.35291DOI Listing
May 2012

Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome.

Eur J Med Genet 2012 May 28;55(5):319-22. Epub 2012 Mar 28.

Division of Human Genetics, Medical University Innsbruck, Schöpfstrasse 41, Innsbruck, Austria.

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http://dx.doi.org/10.1016/j.ejmg.2012.02.008DOI Listing
May 2012

[Newborn screening as a predictive genetic test: principles and challenges].

Wien Med Wochenschr 2012 Apr 28;162(7-8):168-75. Epub 2012 Mar 28.

Division für Humangenetik, Medizinische Universität Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1007/s10354-012-0062-7DOI Listing
April 2012

Clinical utility gene card for: Phenylketonuria.

Eur J Hum Genet 2012 Feb 14;20(2). Epub 2011 Sep 14.

Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1038/ejhg.2011.172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3260912PMC
February 2012

HSD10 disease: clinical consequences of mutations in the HSD17B10 gene.

J Inherit Metab Dis 2012 Jan 30;35(1):81-9. Epub 2011 Nov 30.

Division of Human Genetics, Medical University Innsbruck, Schöpfstr 41, 6020 Innsbruck, Austria.

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http://dx.doi.org/10.1007/s10545-011-9415-4DOI Listing
January 2012