Dieter Kotzot

Dieter Kotzot

UNVERIFIED PROFILE

Are you Dieter Kotzot?   Register this Author

Register author
Dieter Kotzot

Dieter Kotzot

Publications by authors named "Dieter Kotzot"

Are you Dieter Kotzot?   Register this Author

56Publications

1144Reads

41Profile Views

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

Eur J Med Genet 2019 Nov 29;62(11):103564. 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:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212183025
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2018.10.016DOI Listing
November 2019

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:

View Article

Download full-text PDF

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

Iron Supplementation Associated With Loss of Phenotype in Autosomal Dominant Hypophosphatemic Rickets.

J Clin Endocrinol Metab 2015 Sep 17;100(9):3388-92. Epub 2015 Jul 17.

Department of Pediatrics (K.K., J.K.), Medical University of Innsbruck, 6020 Innsbruck, Austria; Department of Pediatrics (J.K.), Technische Universität München, 80333 München, Germany; Division of Human Genetics, Department for Medical Genetics, Molecular and Clinical Pharmacology (D.K.), Medical University of Innsbruck, 6020 Innsbruck, Austria; and Department of Endocrinology and Diabetes (W.H.), Birmingham Children's Hospital, Birmingham B4 6NH, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2015-2391DOI Listing
September 2015

Mosaicism and uniparental disomy in prenatal diagnosis.

Trends Mol Med 2015 Feb 2;21(2):77-87. Epub 2014 Dec 2.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.molmed.2014.11.010DOI Listing
February 2015

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,

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome.

Am J Med Genet A 2014 Jun 24;164A(6):1595-605. Epub 2014 Mar 24.

Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36464DOI Listing
June 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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
http://ac.els-cdn.com/S0015028213004172/1-s2.0-S001502821300
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S001502821300417
Publisher Site
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.

View Article

Download full-text PDF

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

Contamination of amniotic fluid with maternal balanced t(11;22) translocation cells.

Am J Med Genet A 2013 May 26;161A(5):1101-4. Epub 2013 Feb 26.

Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35774DOI Listing
May 2013

Medullary nephrocalcinosis in an adult patient with idiopathic infantile hypercalcaemia and a novel CYP24A1 mutation.

Clin Kidney J 2013 Apr 3;6(2):211-215. Epub 2013 Mar 3.

Department of Nephrology and Dialysis , Academic Teaching Hospital Feldkirch , Feldkirch , Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/ckj/sft008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3811979PMC
April 2013

Interpretation of molecular results in segmental uniparental disomy.

Hepatol Res 2012 Nov;42(11):1150-3

Clinical Department of Pediatrics I, Division of Neonatology, Neuropediatrics and Inherited Metabolic Diseases Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1872-034X.2012.01041.xDOI Listing
November 2012

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21).

Am J Med Genet A 2010 Nov;152A(11):2762-7

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33699DOI Listing
November 2010

A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn.

Clin Dysmorphol 2010 Apr;19(2):82-4

Department of Pediatrics and Adolescent Medicine, Innsbruck Medical University, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0b013e32833593b7DOI Listing
April 2010

"Essentially" pure trisomy 3q27 --> qter: further delineation of the partial trisomy 3q phenotype.

Am J Med Genet A 2009 Nov;149A(11):2522-6

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33058DOI Listing
November 2009

Etiology of chest wall deformities--a genetic review for the treating physician.

J Pediatr Surg 2009 Oct;44(10):2004-11

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

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S002234680900586
Publisher Site
http://dx.doi.org/10.1016/j.jpedsurg.2009.07.029DOI Listing
October 2009

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.

View Article

Download full-text PDF

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

Maternal uniparental disomy 7 and Silver-Russell syndrome - clinical update and comparison with other subgroups.

Authors:
Dieter Kotzot

Eur J Med Genet 2008 Sep-Oct;51(5):444-51. Epub 2008 Jul 4.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2008.06.001DOI Listing
November 2008

Unravelling the parental origin and mechanism of formation of the 47,XY,i(X)(q10) Klinefelter karyotype variant.

Fertil Steril 2008 Nov 6;90(5):2009.e13-7. Epub 2008 Aug 6.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fertnstert.2008.05.054DOI Listing
November 2008

Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman.

Am J Med Genet A 2008 Apr;146A(7):925-9

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32251DOI Listing
April 2008

Growth parameters in maternal uniparental disomy 7 and 14.

Authors:
Dieter Kotzot

Eur J Pediatr 2007 Nov 4;166(11):1143-9. Epub 2007 Jan 4.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-006-0396-5DOI Listing
November 2007

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

Recurrence risk in de novo structural chromosomal rearrangements.

Am J Med Genet A 2007 Aug;143A(15):1708-14

Center of Laboratory Medicine, Cantonal Hospital Aarau, Aarau, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31826DOI Listing
August 2007

Pre- and postnatal findings in trisomy 17 mosaicism.

Am J Med Genet A 2006 Aug;140(15):1628-36

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31319DOI Listing
August 2006

Gene symbol: JAG1. Disease: tetralogy of Fallot.

Hum Genet 2006 Jul;119(6):674

Institut of Human Genetics and Medical Biology, Halle, Germany.

View Article

Download full-text PDF

Source
July 2006

Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschütter-Tönz syndrome.

Am J Med Genet A 2006 Feb;140(3):281-3

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.31071
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.31071DOI Listing
February 2006

SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.

Hum Mutat 2005 Sep;26(3):176-83

Institute for Human Genetics and Anthropology, Universität Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.20215DOI Listing
September 2005

Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated.

Am J Med Genet A 2005 Jul;136(3):287-305

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30483DOI Listing
July 2005

Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl.

Am J Med Genet A 2005 Jun;135(3):304-7

Institute of Medical Biology and Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30727DOI Listing
June 2005

Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene.

Eur J Hum Genet 2005 Mar;13(3):309-13

Institute of Human Genetics, University of Technology, Aachen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201268DOI Listing
March 2005

Molecular and cytogenetic characterization of a non-mosaic isodicentric Y chromosome in a patient with Klinefelter syndrome.

Am J Med Genet A 2005 Jan;132A(2):198-201

Institute of Human Genetics, University of Leipzig, Leipzig, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30446DOI Listing
January 2005

Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting.

Authors:
Dieter Kotzot

Ann Genet 2004 Jul-Sep;47(3):251-60

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.anngen.2004.03.006DOI Listing
October 2004

Advanced parental age in maternal uniparental disomy (UPD): implications for the mechanism of formation.

Authors:
Dieter Kotzot

Eur J Hum Genet 2004 May;12(5):343-6

Institute of Medical Biology and Human Genetics, University of Innsbruck, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201158DOI Listing
May 2004

Clinical description and exclusion of candidate genes in a novel autosomal recessively inherited vitreoretinal dystrophy.

Arch Ophthalmol 2003 Aug;121(8):1109-16

Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archopht.121.8.1109DOI Listing
August 2003

Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15.

Authors:
Dieter Kotzot

Am J Med Genet 2002 Sep;111(4):366-75

Institute for Human Genetics, Technical University of Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.10569DOI Listing
September 2002

Dizygotic twin boys born after ICSI with maternal meiosis I-derived free trisomy 21 in the first and multiple congenital anomalies in the second: chance or common aetiology?

Hum Reprod 2002 Apr;17(4):912-5

Institute for Human Genetics, Department of Obstetrics and Gynecology and Children's Hospital, University of Leipzig, Leipzig, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/humrep/17.4.912DOI Listing
April 2002