Publications by authors named "Olaf Rittinger"

21Publications

Seizures, enamel defects and psychomotor developmental delay: The first patient with Kohlschütter-Tönz syndrome caused by a ROGDI-gene deletion.

Seizure 2017 Aug 15;50:118-120. Epub 2017 Jun 15.

Division of Clinical Genetics, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.1016/j.seizure.2017.06.017DOI Listing
August 2017

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

Am J Hum Genet 2017 May;100(5):725-736

Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, London SM2 5NG, UK; Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London SW3 6JJ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.03.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420355PMC
May 2017

Clinical, cytogenetic, and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyotype.

Eur J Med Genet 2015 Nov 28;58(11):603-7. Epub 2015 Sep 28.

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

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http://dx.doi.org/10.1016/j.ejmg.2015.09.011DOI Listing
November 2015

ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.

Am J Med Genet A 2015 Oct 14;167A(10):2376-81. Epub 2015 May 14.

Klinische Genetik, Universitätskinderklinik, Paracelsus Medizinische Privatuniversität, Salzburg, Austria.

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http://dx.doi.org/10.1002/ajmg.a.37157DOI Listing
October 2015

Cutaneous manifestations in trisomy 13 mosaicism: A rare case and review of the literature.

Am J Med Genet A 2015 Oct 5;167A(10):2294-9. Epub 2015 May 5.

Department of Obstetrics and Gynecology, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.1002/ajmg.a.37145DOI Listing
October 2015

A newly discovered TSHR variant (L665F) associated with nonautoimmune hyperthyroidism in an Austrian family induces constitutive TSHR activation by steric repulsion between TM1 and TM7.

J Clin Endocrinol Metab 2014 Oct 20;99(10):E2051-9. Epub 2014 Jun 20.

Department of Internal Medicine, Endocrinology, and Nephrology (H.J., J.S., M.E., S.H., R.Pa.), University of Leipzig, 04103 Leipzig, Germany; Department of Pediatrics (R.Pu., O.R.), University Hospital Salzburg, 5020 Salzburg, Austria; and Center for Structural Biology (J.M.), Vanderbilt University, Nashville, Tennessee 37232.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2014-1436DOI Listing
October 2014

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

Hepatoblastoma in a 4-year-old girl with Fanconi anaemia.

Acta Paediatr 2011 May 12;100(5):780-3. Epub 2011 Jan 12.

Department of Pediatrics, University Hospital Salzburg, Austria.

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http://dx.doi.org/10.1111/j.1651-2227.2010.02116.xDOI Listing
May 2011

Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.

Rheumatology (Oxford) 2010 Jun 18;49(6):1056-62. Epub 2010 Mar 18.

Leeds Institute of Molecular Medicine, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK.

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http://dx.doi.org/10.1093/rheumatology/keq048DOI Listing
June 2010

Long-term follow-up of patients with congenital hyperinsulinism in Austria.

J Pediatr Endocrinol Metab 2008 Jun;21(6):523-32

Department of Pediatrics, Medical University Vienna, Vienna, Austria.

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June 2008

The changing phenotype in diploid/triploid mosaicism may mimic genetic syndromes with aberrant genomic imprinting: follow up in a 14-year-old girl.

Eur J Med Genet 2008 Nov-Dec;51(6):573-9. Epub 2008 Jul 26.

Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria.

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http://dx.doi.org/10.1016/j.ejmg.2008.07.004DOI Listing
March 2009

GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.

Am J Med Genet A 2005 Mar;133A(2):128-31

Department of Medical Biology and Human Genetics, Innsbruck Medical University, Schöpfstrasse 41, A-6020 Innsbruck, Austria.

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http://dx.doi.org/10.1002/ajmg.a.30515DOI Listing
March 2005