Publications by authors named "Martina Witsch-Baumgartner"

22Publications

Correction to: Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variant.

Clin Oral Investig 2020 10;24(10):3527-3528

Department of Operative and Restorative Dentistry, Medical University of Innsbruck, Anichstraße 35, A-6020, Innsbruck, Austria.

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http://dx.doi.org/10.1007/s00784-020-03550-8DOI Listing
October 2020

EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.

Eur J Hum Genet 2020 Oct 2;28(10):1341-1367. Epub 2020 Jul 2.

Bioglobe GmbH, Grandweg 64, D-22529, Hamburg, Germany.

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http://dx.doi.org/10.1038/s41431-020-0653-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7609334PMC
October 2020

Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variant.

Clin Oral Investig 2020 Oct 7;24(10):3519-3525. Epub 2020 Feb 7.

Department of Operative and Restorative Dentistry, Medical University of Innsbruck, Anichstraße 35, A-6020, Innsbruck, Austria.

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http://dx.doi.org/10.1007/s00784-020-03222-7DOI Listing
October 2020

Marathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopenia.

SAGE Open Med Case Rep 2017 10;5:2050313X17703021. Epub 2017 Apr 10.

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

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http://dx.doi.org/10.1177/2050313X17703021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5406121PMC
April 2017

Influences of Pregnancy on Different Genetic Subtypes of Non-Dystrophic Myotonia and Periodic Paralysis.

Gynecol Obstet Invest 2016 15;81(5):472-6. Epub 2016 Jun 15.

Institute of Human Genetics, Medical Faculty Uniklinik RWTH Aachen, Aachen, Germany.

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http://dx.doi.org/10.1159/000446944DOI Listing
April 2017

A Novel Variant in the HINT1 Gene in a Girl with Autosomal Recessive Axonal Neuropathy with Neuromyotonia: Thorough Neurological Examination Gives the Clue.

Neuropediatrics 2016 Apr 13;47(2):119-22. Epub 2016 Jan 13.

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

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http://dx.doi.org/10.1055/s-0035-1570493DOI Listing
April 2016

Clinical utility gene card for: prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes).

Eur J Hum Genet 2015 Aug 19;23(8). Epub 2014 Nov 19.

1] CHRU Montpellier, Laboratoire de génétique des maladies rares et autoinflammatoires, Montpellier, France [2] Université de Montpellier, UM1, Montpellier, France [3] INSERM U844, Montpellier, France.

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http://dx.doi.org/10.1038/ejhg.2014.257DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795104PMC
August 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

Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome.

Eur J Hum Genet 2015 Mar 14;23(3):277-8. Epub 2014 May 14.

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

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http://dx.doi.org/10.1038/ejhg.2014.87DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326718PMC
March 2015

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

Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS].

Eur J Hum Genet 2013 Aug 16;21(8). Epub 2013 Jan 16.

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

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http://dx.doi.org/10.1038/ejhg.2012.255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722671PMC
August 2013

Low incidence of mutations in EGFR kinase domain in Caucasian patients with head and neck squamous cell carcinoma.

Eur J Cancer 2006 Jan 1;42(1):109-11. Epub 2005 Dec 1.

Department of Internal Medicine, Innsbruck Medical University, Anichstrasse 35, A-6020 Innsbruck, Austria.

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http://dx.doi.org/10.1016/j.ejca.2005.08.034DOI Listing
January 2006

Gefitinib-responsive EGFR-positive colorectal cancers have different proteome profiles from non-responsive cell lines.

Eur J Cancer 2005 Oct 22;41(15):2338-46. Epub 2005 Aug 22.

Department of Internal Medicine, Innsbruck Medical University, Anichstrasse 35, A-6020 Innsbruck, Austria.

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http://linkinghub.elsevier.com/retrieve/pii/S095980490500556
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http://dx.doi.org/10.1016/j.ejca.2005.06.014DOI Listing
October 2005

Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient.

Prenat Diagn 2002 Sep;22(9):827-30

Institute of Medical Biology and Human Genetics, University of Innsbruck, Schoepfstrasse 41, A 6020 Innsbruck, Austria.

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http://dx.doi.org/10.1002/pd.419DOI Listing
September 2002