Publications by authors named "Regina Ensenauer"

67Publications

Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening.

Pediatrics 2020 11 13;146(5). Epub 2020 Oct 13.

Division of Child Neurology and Metabolic Medicine and Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1542/peds.2020-0444DOI Listing
November 2020

A lifestyle intervention during pregnancy to reduce obesity in early childhood: the study protocol of ADEBAR - a randomized controlled trial.

BMC Sports Sci Med Rehabil 2020 10;12:55. Epub 2020 Sep 10.

Cologne Centre for Prevention in Childhood and Youth/ Heart Centre Cologne, University Hospital of Cologne, Kerpener Str. 62, 50937 Cologne, Germany.

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http://dx.doi.org/10.1186/s13102-020-00198-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7487987PMC
September 2020

Gestational Diabetes: Physical Activity Before Pregnancy and Its Influence on the Cardiovascular System.

Front Pediatr 2020 14;8:465. Epub 2020 Aug 14.

Faculty of Sports and Health Sciences Technische Univeristät Munich, Institute of Preventive Paediatric, Munich, Germany.

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http://dx.doi.org/10.3389/fped.2020.00465DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7456967PMC
August 2020

Cardiometabolic risk factor clustering in patients with deficient branched-chain amino acid catabolism: A case-control study.

J Inherit Metab Dis 2020 Sep 6;43(5):981-993. Epub 2020 Apr 6.

Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.

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http://dx.doi.org/10.1002/jimd.12231DOI Listing
September 2020

Sex-specific programming effects of parental obesity in pre-implantation embryonic development.

Int J Obes (Lond) 2020 05 27;44(5):1185-1190. Epub 2019 Nov 27.

Institute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians-Universität München, Feodor-Lynen-Strasse 25, 81377, Munich, Germany.

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http://dx.doi.org/10.1038/s41366-019-0494-xDOI Listing
May 2020

Dynamic modelling of an ACADS genotype in fatty acid oxidation - Application of cellular models for the analysis of common genetic variants.

PLoS One 2019 23;14(5):e0216110. Epub 2019 May 23.

Chair of Nutritional Medicine, Else Kröner-Fresenius-Center for Nutritional Medicine, TUM School of Life Sciences Weihenstephan, Technische Universität München, Freising-Weihenstephan, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0216110PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6532850PMC
January 2020

Predicting cardiometabolic markers in children using tri-ponderal mass index: a cross-sectional study.

Arch Dis Child 2019 06 17;104(6):577-582. Epub 2019 Jan 17.

Perinatal Epidemiology Research Unit, Departments of Obstetrics and Gynaecology and Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.

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http://adc.bmj.com/lookup/doi/10.1136/archdischild-2018-3160
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http://dx.doi.org/10.1136/archdischild-2018-316028DOI Listing
June 2019

Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26.

Biochim Biophys Acta Mol Cell Res 2019 03 23;1866(3):518-531. Epub 2018 Oct 23.

University Children's Research@Kinder-UKE, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Children's Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01674889183047
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http://dx.doi.org/10.1016/j.bbamcr.2018.10.013DOI Listing
March 2019

BMI-Independent Effects of Gestational Diabetes on Human Placenta.

J Clin Endocrinol Metab 2018 09;103(9):3299-3309

Institute for Diabetes Research and Metabolic Diseases of the Helmholtz Zentrum München at Eberhard Karls University Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1210/jc.2018-00397DOI Listing
September 2018

Intraperitoneal Glucose Tolerance Test, Measurement of Lung Function, and Fixation of the Lung to Study the Impact of Obesity and Impaired Metabolism on Pulmonary Outcomes.

J Vis Exp 2018 03 15(133). Epub 2018 Mar 15.

Translational Experimental Pediatrics, Experimental Pulmonology, Department of Pediatrics and Adolescent Medicine, University of Cologne; Department of Pediatrics and Adolescent Medicine, University of Cologne;

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http://dx.doi.org/10.3791/56685DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931777PMC
March 2018

Aspects of Newborn Screening in Isovaleric Acidemia.

Int J Neonatal Screen 2018 Mar 29;4(1). Epub 2018 Jan 29.

Experimental Pediatrics and Metabolism, Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich Heine University Düsseldorf, Moorenstrasse 5, 40225 Düsseldorf, Germany.

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http://dx.doi.org/10.3390/ijns4010007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7548899PMC
March 2018

Hippocampal insulin resistance links maternal obesity with impaired neuronal plasticity in adult offspring.

Psychoneuroendocrinology 2018 03 28;89:46-52. Epub 2017 Dec 28.

Department of Pediatrics and Adolescent Medicine, University Hospital of Cologne, Kerpener Str. 62, Cologne, 50924, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.psyneuen.2017.12.023DOI Listing
March 2018

Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016.

Authors:
Rhea van den Bruck Patrick P Weil Thomas Ziegenhals Philipp Schreiner Stefan Juranek Daniel Gödde Silvia Vogel Frauke Schuster Valerie Orth Johannes Dörner Daniel Pembaur Meike Röper Stefan Störkel Hubert Zirngibl Stefan Wirth Andreas C W Jenke Jan Postberg Nikolas Boy Jana Heringer Gisela Haege Esther M Glahn Georg F Hoffmann Sven F Garbade Peter Burgard Stefan Kölker Cho-Ming Chao Faady Yahya Alena Moiseenko Amit Shrestha Negah Ahmadvand Jennifer Quantius Jochen Wilhelm Elie El-Agha Klaus-Peter Zimmer Saverio Bellusci Christian Staufner Stefan Kölker Holger Prokisch Georg F Hoffmann Stephan Seeliger Matthias Müller Andreas Hippe Henrik Steinkraus Roland Wauer Burkhard Lachmann Sigrun R Hofmann Christian M Hedrich Jakob Zierk Farhad Arzideh Rainer Haeckel Wolfgang Rascher Manfred Rauh Markus Metzler Sebastian Thieme Joanna Bandoła Cornelia Richter Martin Ryser Arshad Jamal Michelle P Ashton Malte von Bonin Matthias Kuhn Christian M Hedrich Ezio Bonifacio Reinhard Berner Sebastian Brenner Johanna Hammersen Cristina Has Nora Naumann-Bartsch Daniel Stachel Dimitra Kiritsi Stephan Söder Mathilde Tardieu Markus Metzler Leena Bruckner-Tuderman Holm Schneider F Bohne D Langer R Cencic T Eggermann U Zechner J Pelletier F Zepp T Enklaar D Prawitt Martin Pech Markus Weckmann Femke-Anouska Heinsen Andre Franke Christine Happle Anna-Maria Dittrich Gesine Hansen Oliver Fuchs Erika von Mutius Brian G Oliver Matthias V Kopp Claudia Paret Alexandra Russo Johanna Theruvath Bettina Keller Khalifa El Malki Nadine Lehmann Arthur Wingerter Marie A Neu Gerhold-Ay Aslihan Wolfgang Wagner Clemens Sommer Torsten Pietsch Larissa Seidmann Jörg Faber Felix Schreiner Merle Ackermann Michael Michalik Eva Rother Andras Bilkei-Gorzo Ildiko Racz Laura Bindila Beat Lutz Jörg Dötsch Andreas Zimmer Joachim Woelfle Hendrik S Fischer Tim L Ullrich Christoph Bührer Christoph Czernik Gerd Schmalisch Robert Stein Sigrun R Hofmann Judith Hagenbuchner Ursula Kiechl-Kohlendorfer Petra Obexer Michael J Ausserlechner Niki T Loges Adrien Tobias Frommer Julia Wallmeier Heymut Omran Soner Öner-Sieben Martina Gimpfl Jan Rozman Martin Irmler Johannes Beckers Martin Hrabe De Angelis Adelbert Roscher Eckhard Wolf Regina Ensenauer Karolina Nemes Michael Frühwald Martin Hasselblatt Reiner Siebert Uwe Kordes Marcel Kool Haicui Wang Holly Hardy Osama Refai Katy E S Barwick Holly H Zimmerman Joachim Weis Emma L Baple Andrew H Crosby Sebahattin Cirak C Hellmuth O Uhl M Standl J Heinrich E Thiering B Koletzko Lena Blümel Kornelius Kerl Daniel Picard Michael C Frühwald Max C Liebau Guido Reifenberger Arndt Borkhardt Martin Hasselblatt Marc Remke D Tews M Wabitsch P Fischer-Posovszky Mike-Andrew Westhoff Lisa Nonnenmacher Julia Langhans Lukas Schneele Nancy Trenkler Klaus-Michael Debatin

Mol Cell Pediatr 2017 May;4(Suppl 1)

Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.

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http://dx.doi.org/10.1186/s40348-017-0071-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5435609PMC
May 2017

Modification of the fatty acid composition of an obesogenic diet improves the maternal and placental metabolic environment in obese pregnant mice.

Biochim Biophys Acta Mol Basis Dis 2017 06 21;1863(6):1605-1614. Epub 2017 Feb 21.

Research Center, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Lindwurmstrasse 4, 80337 Munich, Germany; Experimental Pediatrics and Metabolism, Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Moorenstrasse 5, 40225 Düsseldorf, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2017.02.021DOI Listing
June 2017

Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities.

Pediatr Nephrol 2017 05 12;32(5):791-800. Epub 2017 Jan 12.

Pediatric Nephrology, Children's and Adolescents' Hospital, University Hospital of Cologne, Kerpener Street 62, 50937, Cologne, Germany.

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http://dx.doi.org/10.1007/s00467-016-3556-5DOI Listing
May 2017

Tracheobronchial stents in mucopolysaccharidosis.

Int J Pediatr Otorhinolaryngol 2016 Apr 22;83:187-92. Epub 2016 Feb 22.

Division of Respiratory Medicine and Thoracic Oncology, Ludwig-Maximilians University, Munich, Germany.

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http://dx.doi.org/10.1016/j.ijporl.2016.02.015DOI Listing
April 2016

The peroxisome proliferator-activated receptors under epigenetic control in placental metabolism and fetal development.

Am J Physiol Endocrinol Metab 2016 05 9;310(10):E797-810. Epub 2016 Feb 9.

Research Center, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany; Experimental Pediatrics, Department of General Pediatrics, Pediatric Cardiology, and Neonatology, Heinrich-Heine-University Düsseldorf, Dusseldorf, Germany.

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http://dx.doi.org/10.1152/ajpendo.00372.2015DOI Listing
May 2016

Effects of trimester-specific and total gestational weight gain on children's anthropometrics.

BMC Pregnancy Childbirth 2014 Oct 8;14:351. Epub 2014 Oct 8.

Institute for Social Paediatrics and Adolescent Medicine, Ludwig-Maximilians-Universität München, Haydnstr, 5/4, OG, 80336 Munich, Germany.

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http://dx.doi.org/10.1186/1471-2393-14-351DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287554PMC
October 2014

Pathogenesis of human mitochondrial diseases is modulated by reduced activity of the ubiquitin/proteasome system.

Cell Metab 2014 Apr;19(4):642-52

Institute for Genetics and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Zülpicher Strasse 47a, 50674 Cologne, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2014.01.016DOI Listing
April 2014

Digital image analysis approach for lipid droplet size quantitation of Oil Red O-stained cultured cells.

Anal Biochem 2014 Jan 10;445:87-9. Epub 2013 Oct 10.

Research Center, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität München, 80337 Munich, Germany.

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http://dx.doi.org/10.1016/j.ab.2013.10.001DOI Listing
January 2014

The liver x receptor in correlation with other nuclear receptors in spontaneous and recurrent abortions.

PPAR Res 2013 15;2013:575604. Epub 2013 Apr 15.

Department of Obstetrics and Gynaecology, Campus Innenstadt, Ludwig-Maximilians-Universität München, 80337 Munich, Germany.

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http://dx.doi.org/10.1155/2013/575604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3649716PMC
May 2013

Late pregnancy reversal from excessive gestational weight gain lowers risk of childhood overweight--a cohort study.

Obesity (Silver Spring) 2013 Jun 13;21(6):1232-7. Epub 2013 May 13.

Division of Epidemiology, Institute of Social Paediatrics and Adolescent Medicine, Ludwig-Maximilians-Universität, Munich, Germany.

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http://dx.doi.org/10.1002/oby.20197DOI Listing
June 2013

Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.

J Inherit Metab Dis 2013 May 13;36(3):525-33. Epub 2012 Sep 13.

Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Hospital Heidelberg, Heidelberg, Germany.

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http://link.springer.com/10.1007/s10545-012-9517-7
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http://dx.doi.org/10.1007/s10545-012-9517-7DOI Listing
May 2013

Cellular signaling of amino acids towards mTORC1 activation in impaired human leucine catabolism.

J Nutr Biochem 2013 May 13;24(5):824-31. Epub 2012 Aug 13.

Research Center, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität München, 80337 Munich, Germany.

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http://dx.doi.org/10.1016/j.jnutbio.2012.04.018DOI Listing
May 2013

2p21 Deletions in hypotonia-cystinuria syndrome.

Eur J Med Genet 2012 Oct 17;55(10):561-3. Epub 2012 Jul 17.

Institute of Human Genetics, RWTH Aachen, Pauwelsstr. 30, D-52074 Aachen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2012.06.008DOI Listing
October 2012

Do trimester-specific cutoffs predict whether women ultimately stay within the Institute of Medicine/National Research Council guidelines for gestational weight gain? Findings of a retrospective cohort study.

Am J Clin Nutr 2012 Jun 2;95(6):1432-7. Epub 2012 May 2.

Division of Epidemiology, Institute of Social Paediatrics and Adolescent Medicine, Dr von Hauner Children's Hospital, Ludwig-Maximilians-Universität, Munich, Germany.

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http://dx.doi.org/10.3945/ajcn.111.033704DOI Listing
June 2012

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia.

Orphanet J Rare Dis 2012 Jan 25;7. Epub 2012 Jan 25.

Center for Pediatrics and Adolescent Medicine, Albert-Ludwigs-Universität Freiburg, Germany.

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http://dx.doi.org/10.1186/1750-1172-7-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3292949PMC
January 2012

Newborn screening for isovaleric acidemia using tandem mass spectrometry: data from 1.6 million newborns.

Clin Chem 2011 Apr 18;57(4):623-6. Epub 2011 Feb 18.

Dr. von Hauner Children's Hospital, Children's Research Centre, Ludwig-Maximilians-Universität, Munich, Germany.

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http://www.clinchem.org/cgi/doi/10.1373/clinchem.2010.151134
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http://dx.doi.org/10.1373/clinchem.2010.151134DOI Listing
April 2011

Identification and characterization of new long chain acyl-CoA dehydrogenases.

Mol Genet Metab 2011 Apr 17;102(4):418-29. Epub 2010 Dec 17.

Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3073726PMC
April 2011

Use of guidelines improves the neurological outcome in glutaric aciduria type I.

Ann Neurol 2010 Nov;68(5):743-52

Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Hospital Heidelberg, Heidelberg, Germany.

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http://doi.wiley.com/10.1002/ana.22095
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http://dx.doi.org/10.1002/ana.22095DOI Listing
November 2010

The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population.

J Inherit Metab Dis 2010 Oct 8;33(5):513-20. Epub 2010 Jun 8.

Dr. von Hauner Children's Hospital, Children's Research Center, Ludwig-Maximilians-Universität München, Munich, Germany.

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http://dx.doi.org/10.1007/s10545-010-9115-5DOI Listing
October 2010

Gestational weight gain and overweight in children: Results from the cross-sectional German KiGGS study.

Int J Pediatr Obes 2011 Feb 5;6(1):45-52. Epub 2010 May 5.

Institute of Social Pediatrics and Adolescent Medicine, Ludwig-Maximilians University Munich, Germany.

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http://dx.doi.org/10.3109/17477161003792564DOI Listing
February 2011

The phenotypic spectrum of trisomy 2: report of two new cases.

Clin Dysmorphol 2009 Oct;18(4):201-4

Department of Medical Genetics, Mayo College of Medicine, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1097/MCD.0b013e32832d0639DOI Listing
October 2009

Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.

Am J Med Genet C Semin Med Genet 2006 May;142C(2):95-103

Department of Pediatrics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, 3705 Fifth Avenue, Pittsburgh, PA 15238, USA.

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http://doi.wiley.com/10.1002/ajmg.c.30089
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http://dx.doi.org/10.1002/ajmg.c.30089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2652706PMC
May 2006

Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids.

J Biol Chem 2005 Sep 14;280(37):32309-16. Epub 2005 Jul 14.

Department of Medical Genetics, Pediatric and Adolescent Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M504460200
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http://dx.doi.org/10.1074/jbc.M504460200DOI Listing
September 2005

Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.

Genet Med 2005 May-Jun;7(5):339-43

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1097/01.gim.0000164548.54482.9dDOI Listing
August 2005

Trisomy 20 mosaicism caused by a maternal meiosis II error is associated with normal intellect but multiple congenital anomalies.

Am J Med Genet A 2005 Apr;134A(2):202-6

Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1002/ajmg.a.30586DOI Listing
April 2005

Genetic testing: practical, ethical, and counseling considerations.

Mayo Clin Proc 2005 Jan;80(1):63-73

Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, Minn 55905, USA.

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http://dx.doi.org/10.1016/S0025-6196(11)62960-1DOI Listing
January 2005

Unbalanced cryptic 5p deletion/17p duplication identified by subtelomeric FISH in a family with a boy with chimerism and a balanced t(4;5).

Am J Med Genet A 2004 Feb;125A(1):86-91

Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://doi.wiley.com/10.1002/ajmg.a.20420
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http://dx.doi.org/10.1002/ajmg.a.20420DOI Listing
February 2004

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.

Am J Hum Genet 2003 May 14;72(5):1300-7. Epub 2003 Apr 14.

Department of Clinical Chemistry, Academic Medical Center, Emma Children's Hospital, University of Amsterdam, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180283PMC
http://dx.doi.org/10.1086/375116DOI Listing
May 2003

Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.

Hum Mutat 2003 Apr;21(4):401-7

Department of General Paediatrics, Ruprecht-Karls-University, Heidelberg, Germany.

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http://dx.doi.org/10.1002/humu.10202DOI Listing
April 2003

Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients.

Genet Med 2003 Jan-Feb;5(1):28-34

Department of Laboratory Medicine and Pathology, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1097/00125817-200301000-00005DOI Listing
August 2003

Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.

Ann Neurol 2002 May;51(5):656-9

Metabolic Unit, University Children's Hospital, Freiburg, Germany.

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http://dx.doi.org/10.1002/ana.10169DOI Listing
May 2002