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Thomas Meitinger

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Felix Beuschlein; Sheerazed Boulkroun; Susanne Diener; Francesco Fallo; Evelyn Fischer; Elisabeth Graf; Xavier Jeunemaitre; Urs D Lichtenauer; Franco Mantero; Thomas Meitinger; Paolo Mulatero; Hang N Nielsen; Andrea Osswald; David Penton; Pierre-Francois Plouin; Marcus Quinkler; Benoit Samson-Couterie; Vivien R Schack; Thomas Schwarzmayr; Tim M Strom; Philipp Tauber; Bente Vilsen; Anett Walther; Richard Warth; Thomas Wieland; Maria-Christina Zennaro; Bruno Allolio; Laurence Amar; Arndt Benecke; Martin Reincke
Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.
Konrad Oexle; Annette Peters; Holger Prokisch; Janina S Ried; Barbara Schormair; Michael Specht; Joachim Thiery; Claudia Trenkwalder; H-Erich Wichmann; Darina Czamara; Angela Döring; Birgit Frauscher; Christian Gieger; Katharina Heim; Birgit Högl; Peter Lichtner; G Martin Fiedler; Thomas Meitinger; Bertram Müller-Myhsok; Juliane Winkelmann
Dilution of candidates: the case of iron-related genes in restless legs syndrome.
Cornelia Kornblum; Wolfram S Kunz; Thomas Meitinger; Michal Minczuk; Maurizio Moggio; Vamsi K Mootha; Thomas J Nicholls; Viktoriya Peeva; Sarah E Calvo; Giacomo P Comi; Katharina Danhauser; Salvatore DiMauro; Tobias B Haack; Kerstin Hallmann; Arcangela Iuso; Thomas Klopstock; Catarina M Quinzii; Dario Ronchi; Joanna Rorbach; Susanne Schöler; Monica Sciacco; Tim M Strom; Thomas Wieland; Gabor Zsurka; Holger Prokisch
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.

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2013: Felix Beuschlein; Sheerazed Boulkroun; Susanne Diener; Francesco Fallo; Evelyn Fischer; Elisabeth Graf; Xavier Jeunemaitre; Urs D Lichtenauer; Franco Mantero; Thomas Meitinger; Paolo Mulatero; Hang N Nielsen; Andrea Osswald; David Penton; Pierre-Francois Plouin; Marcus Quinkler; Benoit Samson-Couterie; Vivien R Schack; Thomas Schwarzmayr; Tim M Strom; Philipp Tauber; Bente Vilsen; Anett Walther; Richard Warth; Thomas Wieland; Maria-Christina Zennaro; Bruno Allolio; Laurence Amar; Arndt Benecke; Martin Reincke
Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.
Nature genetics 2013;45(4):440-4, 444e1-2.
2013: Konrad Oexle; Annette Peters; Holger Prokisch; Janina S Ried; Barbara Schormair; Michael Specht; Joachim Thiery; Claudia Trenkwalder; H-Erich Wichmann; Darina Czamara; Angela Döring; Birgit Frauscher; Christian Gieger; Katharina Heim; Birgit Högl; Peter Lichtner; G Martin Fiedler; Thomas Meitinger; Bertram Müller-Myhsok; Juliane Winkelmann
Dilution of candidates: the case of iron-related genes in restless legs syndrome.
European journal of human genetics : EJHG 2013;21(4):410-4.
2013: Cornelia Kornblum; Wolfram S Kunz; Thomas Meitinger; Michal Minczuk; Maurizio Moggio; Vamsi K Mootha; Thomas J Nicholls; Viktoriya Peeva; Sarah E Calvo; Giacomo P Comi; Katharina Danhauser; Salvatore DiMauro; Tobias B Haack; Kerstin Hallmann; Arcangela Iuso; Thomas Klopstock; Catarina M Quinzii; Dario Ronchi; Joanna Rorbach; Susanne Schöler; Monica Sciacco; Tim M Strom; Thomas Wieland; Gabor Zsurka; Holger Prokisch
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.
Nature genetics 2013;45(2):214-9.
2013: Divya Mehta; Thomas Meitinger; Matthias Nauck; Maren Carstensen; Gertrud Eckstein; Christian Gieger; Katharina Heim; Christian Herder; Georg Homuth; Thomas Illig; Michael Roden; Claudia Schurmann; Uwe Völker; Holger Prokisch
Impact of common regulatory single-nucleotide variants on gene expression profiles in whole blood.
European journal of human genetics : EJHG 2013;21(1):48-54.
2013: Tobias B Haack; Birgit Haberberger; Thomas Hoppen; Johannes A Mayr; Thomas Meitinger; B Rolinski; Jessica Schum; Wolfgang Sperl; Valentina Strecker; Tim M Strom; Ilka Wittig; Franz Zimmermann; Uwe Athing; Peter Freisinger; Elisabeth Graf; Holger Prokisch
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings.
Journal of inherited metabolic disease 2013;36(1):55-62.
2013: Karla V Allebrandt; N Amin; R V D M Azevedo; H Campbell; Z Dogas; T Esko; E W Green; C Hayward; A A Hicks; A C J W Janssens; C P Kyriacou; P Lichtner; Thomas Meitinger; S A Melville; Martha Merrow; A Metspalu; Bertram Müller-Myhsok; B A Oostra; B Penninx; P P Pramstaller; I Rudan; M Teder-Laving; C M van Duijn; J van Mill; N Vogelzangs; H-E Wichmann; J F Wilson; Till Roenneberg
A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila.
Molecular psychiatry 2013;18(1):122-32.
2012: Katharina Danhauser; Elisabeth Graf; Tobias B Haack; Georg F Hoffmann; Thomas Meitinger; Jürgen G Okun; Holger Prokisch; Sven W Sauer; Christian Staufner; Tim M Strom; Thorsten Traub; Thomas Wieland; Johannes Zschocke; Stefan Kölker
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
American journal of human genetics 2012;91(6):1082-7.
2012: Tobias B Haack; Maja Hempel; Ken Inui; Christine Makowski; Johannes A Mayr; Thomas Meitinger; Tim M Strom; Ulrike Tauer; Thomas Wieland; Yoshiaki Yao; Atsushi Yonezawa; Hiroki Yoshimatsu; Uwe Ahting; Peter Freisinger; Elisabeth Graf; Holger Prokisch
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.
Journal of inherited metabolic disease 2012;35(6):943-8.
2012: Christian Jaklin; Anna Jauch; Christine C Makowski; Thomas Meitinger; Monika Cohen; Katrin Heiliger; Maja Hempel; Doris Sollacher; Konrad Oexle
Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy.
European journal of medical genetics 2012;55(10):568-72.
2012: Monika B Hartig; Thomas Meitinger; Holger Prokisch; Thomas Klopstock
Pantothenate kinase-associated neurodegeneration.
Current drug targets 2012;13(9):1182-9.
2012: Adam Ameur; Harry Campbell; Mark J Daly; Stefan Enroth; Lars Feuk; Andrew A Hicks; Wilmar Igl; Asa Johansson; Anna C V Johansson; Thomas Meitinger; Ben Oostra; Peter P Pramstaller; Manuel A Rivas; Igor Rudan; Gerd Schmitz; Cornelia van Duijn; James F Wilson; Alan F Wright; Ghazal Zaboli; Ulf Gyllensten
Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids.
American journal of human genetics 2012;90(5):809-20.
2012: Mascha C Schmied; Karl Vass; H-Erich Wichmann; Karin Zebenholzer; Sonja Zehetmayer; Eduard Auff; Barbara Bajer-Kornek; Thomas Berger; Rainer Ehling; Franz Fazekas; Sigrid Fuchs; Christian Gieger; Christoph Hotzy; Klaus Huber; Thomas Illig; Michael Khalil; W Kristoferitsch; Fritz Leutmezer; Peter Lichtner; Thomas Meitinger; Markus Reindl; Helena Schmidt; Alexander Zimprich
Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients.
Neurogenetics 2012;13(2):181-7.
2012: Janina S Ried; Karsten Suhre; H-Erich Wichmann; Juliane Winkelmann; Norman Klopp; Christa Meisinger; Thomas Meitinger; Konrad Oexle; Annette Peters; Angela Döring; Christian Gieger
PSEA: Phenotype Set Enrichment Analysis--a new method for analysis of multiple phenotypes.
Genetic epidemiology 2012;36(3):244-52.
2012: Tobias B Haack; Birgit Haberberger; Hana Hansikova; Julia B Hennermann; Ulrike Herberg; Georg F Hoffmann; Arcangela Iuso; Thomas Klopstock; Klaus A Kuhn; Johannes A Mayr; Thomas Meitinger; Barbara Plecko; Markus Schuelke; Wolfgang Sperl; Valentina Strecker; Tim M Strom; Marketa Tesarova; Thomas Wieland; Ekkehard Wilichowski; Ilka Wittig; Jiri Zeman; Massimo Zeviani; Uwe Ahting; Peter Freisinger; Eva-Maria Frisch; Matteo Gorza; Elisabeth Graf; Holger Prokisch
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
Journal of medical genetics 2012;49(4):277-83.
2011: Monika B Hartig; Katharina Heim; Maja Hempel; Arcangela Iuso; Sergiusz Jozwiak; Elzbieta Jurkiewicz; Thomas Klopstock; Tomasz Kmiec; Malgorzata Krajewska-Walasek; Hans A Kretzschmar; Thomas Meitinger; Wolfgang Mueller-Felber; Konrad Oexle; Sabrina Dusi; Matthias Elstner; Thomas Gasser; Tobias Haack; Sigrun Roeber; Gerd Schmitz; Tim M Strom; Victoria Tarabin; Valeria Tiranti; Claudia Trenkwalder; Juliane Winkelmann; Holger Prokisch
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
American journal of human genetics 2011;89(4):543-50.
2011: Barbara Schormair; Ioannis Stefanidis; Andreas Ströhle; Andreas Vainas; Darina Czamara; Efthimios Dardiotis; Christian Gieger; Nadine Gross; Georgios M Hadjigeorgiou; Uwe Heemann; Maria Kaffe; Peter Lichtner; Thomas Meitinger; Bertram Müller-Myhsok; Konrad Oexle; Jens Plag; Giorgos K Sakkas; Walter Samtleben; Juliane Winkelmann
MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease.
Journal of medical genetics 2011;48(7):462-6.
2011: Matthias Elstner; Katharina Heim; Evelyn Jaros; Thomas Klopstock; Divya Mehta; Thomas Meitinger; Christopher M Morris; Andreas Bender; Douglass M Turnbull; Holger Prokisch
Expression analysis of dopaminergic neurons in Parkinson's disease and aging links transcriptional dysregulation of energy metabolism to cell death.
Acta neuropathologica 2011;122(1):75-86.
2011: Katharina Danhauser; Arcangela Iuso; Tobias B Haack; Peter Freisinger; Knut Brockmann; Johannes A Mayr; Thomas Meitinger; Holger Prokisch
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency.
Molecular genetics and metabolism 2011;103(2):161-6.
2011: P A Greif; S H Eck; N P Konstandin; Anna Benet-Pagès; B Ksienzyk; A Dufour; A T Vetter; H D Popp; B Lorenz-Depiereux; Thomas Meitinger; S K Bohlander; Tim M Strom
Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing.
Leukemia 2011;25(5):821-7.
2011: Dirk Sibbing; Arne Pfeufer; Tamara Perisic; Alexander M Mannes; Karin Fritz-Wolf; Sarah Unwin; Moritz F Sinner; Christian Gieger; Christian Johannes Gloeckner; Heinz-Erich Wichmann; Elisabeth Kremmer; Zasie Schäfer; Axel Walch; Martin Hinterseer; Michael Näbauer; Stefan Kääb; Adnan Kastrati; Albert Schömig; Thomas Meitinger; Georg W Bornkamm; Marcus Conrad; Nicolas von Beckerath
Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy.
European heart journal 2011;32(9):1121-33.
2011: Konrad Oexle; Maja Hempel; Anna Jauch; Thomas Meitinger; Núria Rivera-Brugués; Sabine Stengel-Rutkowski; Tim Strom
3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome.
European journal of medical genetics 2011;54(3):225-30.
2011: E C Schulte; F Knauf; D Kemlink; B Schormair; Peter Lichtner; C Gieger; Thomas Meitinger; J Winkelmann
Variant screening of the coding regions of MEIS1 in patients with restless legs syndrome.
Neurology 2011;76(12):1106-8.
2011: Moritz F Sinner; Patrick T Ellinor; Thomas Meitinger; Emelia J Benjamin; Stefan Kääb
Genome-wide association studies of atrial fibrillation: past, present, and future.
Cardiovascular research 2011;89(4):701-9.
2011: Moritz F Sinner; Steven A Lubitz; Arne Pfeufer; Seiko Makino; britt beckmann; Kathryn L Lunetta; Gerhard Steinbeck; Siegfried Perz; Rosanna Rahman; Akshata Sonni; Steven M Greenberg; Karen L Furie; H-Erich Wichmann; Thomas Meitinger; Annette Peters; Emelia J Benjamin; Jonathan Rosand; Patrick T Ellinor; Stefan Kääb
Lack of replication in polymorphisms reported to be associated with atrial fibrillation.
Heart rhythm : the official journal of the Heart Rhythm Society 2011;8(3):403-9.
2011: Nuria Rivera-Brugués; Beate Albrecht; Dagmar Wieczorek; Heinrich Schmidt; Thomas Keller; Ina Göhring; Arif B Ekici; Andreas Tzschach; Masoud Garshasbi; Kathlen Franke; Norman Klopp; H-Erich Wichmann; Thomas Meitinger; Tim M Strom; Maja Hempel
Cohen syndrome diagnosis using whole genome arrays.
Journal of medical genetics 2011;48(2):136-40.
2010: Colm O'Dushlaine; Ruth McQuillan; Michael E Weale; Daniel J M Crouch; Asa Johansson; Yurii Aulchenko; Christopher S Franklin; Ozren Polašek; Christian Fuchsberger; Aiden Corvin; Andrew A Hicks; Veronique Vitart; Caroline Hayward; Sarah H Wild; Thomas Meitinger; Cornelia M van Duijn; Ulf Gyllensten; Alan F Wright; Harry Campbell; Peter P Pramstaller; Igor Rudan; James F Wilson
Genes predict village of origin in rural Europe.
European journal of human genetics : EJHG 2010;18(11):1269-70.
2010: Kari Hemminki; Bertram Müller-Myhsok; Peter Lichtner; Christoph Engel; Bowang Chen; Barbara Burwinkel; Asta Försti; Christian Sutter; Barbara Wappenschmidt; Heide Hellebrand; Thomas Illig; Norbert Arnold; Dieter Niederacher; Bernd Dworniczak; Helmut Deissler; Karin Kast; Dorothea Gadzicki; Thomas Meitinger; H-Erich Wichmann; Marion Kiechle; Claus R Bartram; Rita K Schmutzler; Alfons Meindl
Low-risk variants FGFR2, TNRC9 and LSP1 in German familial breast cancer patients.
International journal of cancer. Journal international du cancer 2010;126(12):2858-62.
2010: Karla V Allebrandt; Maris Teder-Laving; Mahmut Akyol; Irene Pichler; Bertram Müller-Myhsok; Peter Pramstaller; Martha Merrow; Thomas Meitinger; Andreas Metspalu; Till Roenneberg
CLOCK gene variants associate with sleep duration in two independent populations.
Biological psychiatry 2010;67(11):1040-7.
2010: Anne S Soehn; Thomas Franck; Saskia Biskup; Emilie Giaime; Christian Melle; Ruth Rott; Daniel Cebo; Hubert Kalbacher; Erwin Ott; Jens Pahnke; Thomas Meitinger; Rejko Krüger; Thomas Gasser; Daniela Berg; Ferdinand von Eggeling; Simone Engelender; Cristine Alves da Costa; Olaf Riess
Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease.
Neurogenetics 2010;11(2):203-15.
2010: Thomas Illig; Christian Gieger; Guangju Zhai; Werner Römisch-Margl; Rui Wang-Sattler; Cornelia Prehn; Elisabeth Altmaier; Gabi Kastenmüller; Bernet S Kato; Hans-Werner Mewes; Thomas Meitinger; Martin Hrabé De Angelis; Florian Kronenberg; Nicole Soranzo; H-Erich Wichmann; Tim D Spector; Jerzy Adamski; Karsten Suhre
A genome-wide perspective of genetic variation in human metabolism.
Nature genetics 2010;42(2):137-41.
2010: Jaroslav A Hubácek; L Kuthanová; Romana Bohuslavová; Vera Adámková; Vera Lánská; Thomas Meitinger; Arne Pfeufer
INSIG2 promoter variant, obesity markers and lipid parameters - No association in a large Slavonic Caucasian population sample.
Folia biologica 2010;56(3):131-4.
2010: Wilmar Igl; Asa Johansson; James F Wilson; Sarah H Wild; Ozren Polasek; Caroline Hayward; Veronique Vitart; Nicholas Hastie; Pavao Rudan; Carsten Gnewuch; Gerd Schmitz; Thomas Meitinger; Peter P Pramstaller; Andrew A Hicks; Ben A Oostra; Cornelia M van Duijn; Igor Rudan; Alan Wright; Harry Campbell; Ulf Gyllensten
Modeling of environmental effects in genome-wide association studies identifies SLC2A2 and HP as novel loci influencing serum cholesterol levels.
PLoS genetics 2010;6(1):e1000798.
2010: Patrick Linsel-Nitschke; Jörg Heeren; Zouhair Aherrahrou; Petra Bruse; Christian Gieger; Thomas Illig; Holger Prokisch; Katharina Heim; Angela Doering; Annette Peters; Thomas Meitinger; H-Erich Wichmann; Anke Hinney; Thomas Reinehr; Christian Roth; Jan R Ortlepp; Mouhidien Soufi; Alexander M Sattler; Jürgen Schaefer; Klaus Stark; Christian Hengstenberg; Arne Schaefer; Stefan Schreiber; Florian Kronenberg; Nilesh J Samani; Heribert Schunkert; Jeanette Erdmann
Genetic variation at chromosome 1p13.3 affects sortilin mRNA expression, cellular LDL-uptake and serum LDL levels which translates to the risk of coronary artery disease.
Atherosclerosis 2010;208(1):183-9.
2009: Simon Body; Charles Collard; Stanton K Shernan; Amanda A Fox; Kuang-Yu Liu; Marylyn Ritchie; Tjörvi E Perry; Jochen Muehlschlegel; Sary F Aranki; Brian S Donahue; Mias Pretorius; Juan-Carlos Estrada; Patrick T Ellinor; Christopher Newton-Cheh; Christine E Seidman; J G Seidman; Daniel S Herman; Peter Lichtner; Thomas Meitinger; Arne Pfeufer; Stefan Kääb; Nancy Brown; Dan Mark Roden; Dawood Darbar
Variation in the 4q25 chromosomal locus predicts atrial fibrillation after coronary artery bypass graft surgery.
Circulation. Cardiovascular genetics 2009;2(5):499-506.
2009: Maja Hempel; Nuria Rivera Brugués; Janine Wagenstaller; Gaby Lederer; Andrea Weitensteiner; Heide Seidel; Thomas Meitinger; Tim M Strom
Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization.
American journal of medical genetics. Part A 2009;149A(10):2106-12.
2009: Fabio Marroni; Arne Pfeufer; Yurii S Aulchenko; Christopher S Franklin; Aaron Isaacs; Irene Pichler; Sarah H Wild; Ben A Oostra; Alan F Wright; Harry Campbell; Jacqueline C Witteman; Stefan Kääb; Andrew A Hicks; Ulf Gyllensten; Igor Rudan; Thomas Meitinger; Cristian Pattaro; Cornelia M van Duijn; James F Wilson; Peter P Pramstaller
A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.
Circulation. Cardiovascular genetics 2009;2(4):322-8.
2009: Cristian Pattaro; Yurii S Aulchenko; Aaron Isaacs; Veronique Vitart; Caroline Hayward; Christopher S Franklin; Ozren Polasek; Ivana Kolcic; Zrinka Biloglav; Susan Campbell; Nicholas D Hastie; Gordan Lauc; Thomas Meitinger; Ben A Oostra; Ulf Gyllensten; James F Wilson; Irene Pichler; Andrew A Hicks; Harry Campbell; Alan F Wright; Igor Rudan; Cornelia M van Duijn; Peter Riegler; Fabio Marroni; Peter P Pramstaller
Genome-wide linkage analysis of serum creatinine in three isolated European populations.
Kidney international 2009;76(3):297-306.
2009: Lars G Fritsche; Sandra Freitag-Wolf; Thomas Bettecken; Thomas Meitinger; Claudia N Keilhauer; Michael Krawczak; Bernhard H F Weber
Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene.
Human mutation 2009;30(7):1048-53.
2009: Elin Org; Susana Eyheramendy; Peeter Juhanson; Christian Gieger; Peter Lichtner; Norman Klopp; Gudrun Veldre; Angela Döring; Margus Viigimaa; Siim Sõber; Kärt Tomberg; Gertrud Eckstein; Piret Kelgo; Tiina Rebane; Sue Shaw-Hawkins; Philip Howard; Abiodun Onipinla; Richard J Dobson; Stephen Newhouse; Morris Brown; Anna F Dominiczak; John Connell; Nilesh J Samani; Martin Farrall; Mark J Caulfield; Patricia B Munroe; Thomas Illig; H-Erich Wichmann; Thomas Meitinger; Maris Laan
Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations.
Human molecular genetics 2009;18(12):2288-96.
2009: Andreas Gschwendtner; Steve Bevan; John W Cole; Anna Plourde; Mar Matarin; Helen Ross-Adams; Thomas Meitinger; Erich Wichmann; Braxton D Mitchell; Karen Furie; Agnieszka Slowik; Stephen S Rich; Paul D Syme; mary MAcleod; James F Meschia; Jonathan Rosand; Steven Kittner; Hugh S Markus; Bertram Müller-Myhsok; Martin Dichgans
Sequence variants on chromosome 9p21.3 confer risk for atherosclerotic stroke.
Annals of neurology 2009;65(5):531-9.
2009: D Kemlink; O Polo; B Frauscher; V Gschliesser; B Högl; Werner Poewe; P Vodicka; J Vavrova; K Sonka; S Nevsimalova; B Schormair; Peter Lichtner; K Silander; L Peltonen; C Gieger; H-Erich Wichmann; A Zimprich; D Roeske; B Müller-Myhsok; Thomas Meitinger; J Winkelmann
Replication of restless legs syndrome loci in three European populations.
Journal of medical genetics 2009;46(5):315-8.
2009: Uwe Ahting; Thomas Floss; Nikolas Uez; Ilka Schneider-Lohmar; Lore Becker; Eva Kling; Arcangela Iuso; Andreas Bender; Martin Hrabé De Angelis; Valérie Gailus-Durner; Helmut Fuchs; Thomas Meitinger; Wolfgang Wurst; Holger Prokisch; Thomas Klopstock
Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import.
Biochimica et biophysica acta 2009;1787(5):371-6.
2009: Amanda A Fox; Charles Collard; Stanton K Shernan; Christine E Seidman; Jonathan G Seidman; Kuang-Yu Liu; Jochen D Muehlschlegel; Tjorvi E Perry; Sary F Aranki; Christoph Lange; Daniel S Herman; Thomas Meitinger; Peter Lichtner; Simon Body
Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting.
Anesthesiology 2009;110(4):738-47.
2009: Stefan Kääb; Dawood Darbar; Charlotte van Noord; Josée Dupuis; Arne Pfeufer; Christopher Newton-Cheh; Renate Schnabel; Seiko Makino; Moritz F Sinner; Prince J Kannankeril; britt beckmann; Subbarao Choudry; Brian S Donahue; Jan Heeringa; Siegfried Perz; Kathryn L Lunetta; Martin G Larson; Daniel Levy; Calum A MacRae; Jeremy N Ruskin; Annette Wacker; Albert Schömig; H-Erich Wichmann; Gerhard Steinbeck; Thomas Meitinger; André G Uitterlinden; Jacqueline C M Witteman; Dan Mark Roden; Emelia Benjamin; Patrick T Ellinor
Large scale replication and meta-analysis of variants on chromosome 4q25 associated with atrial fibrillation.
European heart journal 2009;30(7):813-9.
2009: Tobias Freilinger; Steve Bevan; Stephan Ripke; Andreas Gschwendtner; Peter Lichtner; Bertram Müller-Myhsok; H-Erich Wichmann; Hugh S Markus; Thomas Meitinger; Martin Dichgans
Genetic variation in the lymphotoxin-alpha pathway and the risk of ischemic stroke in European populations.
Stroke; a journal of cerebral circulation 2009;40(3):970-2.
2009: Matthias Wjst; Peter Lichtner; Thomas Meitinger; Bodo Grimbacher
STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families.
European journal of human genetics : EJHG 2009;17(3):352-6.
2009: Anne-Kathrin Wermter; André Scherag; Katja Holter; Kathrin Reichwald; Peter Lichtner; Wolfgang Siegfried; John Blundell; Clare Lawton; Stephen Whybrow; James Stubbs; Jonathan R Arch; Thomas Meitinger; Matthias Platzer; Anke Hinney; Johannes Hebebrand
Procolipase gene: no association with early-onset obesity or fat intake.
Obesity facts 2009;2(1):40-4.
2009: Sebastian H Eck; Anna Benet-Pagès; Krzysztof Flisikowski; Thomas Meitinger; Ruedi Fries; Tim M Strom
Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discovery.
Genome biology 2009;10(8):R82.
2009: Siim Sõber; Elin Org; Katrin Kepp; Peeter Juhanson; Susana Eyheramendy; Christian Gieger; Peter Lichtner; Norman Klopp; Gudrun Veldre; Margus Viigimaa; Angela Döring; Margus Putku; Piret Kelgo; Sue Shaw-Hawkins; Philip Howard; Abiodun Onipinla; Richard J Dobson; Stephen Newhouse; Morris Brown; Anna Dominiczak; John Connell; Nilesh Samani; Martin Farrall; Mark J Caulfield; Patricia B Munroe; Thomas Illig; H-Erich Wichmann; Thomas Meitinger; Maris Laan
Targeting 160 candidate genes for blood pressure regulation with a genome-wide genotyping array.
PloS one 2009;4(6):e6034.
2009: Matthias Elstner; C Andreoli; Thomas Klopstock; Thomas Meitinger; Holger Prokisch
The mitochondrial proteome database: MitoP2.
Methods in enzymology 2009;457():3-20.
2009: Jan Petrásek; Jaroslav A Hubácek; Felix Stickel; Jan Sperl; Thomas Berg; Esther Ruf; H-Erich Wichmann; Arne Pfeufer; Thomas Meitinger; Pavel Trunecka; Julius Spicák; Milan Jirsa
Do common genetic variants in endotoxin signaling pathway contribute to predisposition to alcoholic liver cirrhosis?
Clinical chemistry and laboratory medicine : CCLM / FESCC 2009;47(4):398-404.
2009: Christa Meisinger; Holger Prokisch; Christian Gieger; Nicole Soranzo; Divya Mehta; Dieter Rosskopf; Peter Lichtner; Norman Klopp; Jonathan Stephens; Nicholas A Watkins; Panos Deloukas; Andreas Greinacher; Wolfgang Koenig; Matthias Nauck; Christian Rimmbach; Henry Völzke; Annette Peters; Thomas Illig; Willem H Ouwehand; Thomas Meitinger; H-Erich Wichmann; Angela Döring
A genome-wide association study identifies three loci associated with mean platelet volume.
American journal of human genetics 2009;84(1):66-71.
2008: Christian Gieger; Ludwig Geistlinger; Elisabeth Altmaier; Martin Hrabé De Angelis; Florian Kronenberg; Thomas Meitinger; Hans-Werner Mewes; H-Erich Wichmann; Klaus M Weinberger; Jerzy Adamski; Thomas Illig; Karsten Suhre
Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
PLoS genetics 2008;4(11):e1000282.
2008: Matthias Elstner; Christophe Andreoli; Uwe Ahting; Igor Tetko; Thomas Klopstock; Thomas Meitinger; Holger Prokisch
MitoP2: an integrative tool for the analysis of the mitochondrial proteome.
Molecular biotechnology 2008;40(3):306-15.
2008: Anne-Kathrin Wermter; André Scherag; David Meyre; Kathrin Reichwald; Emmanuelle Durand; Thuy Trang Nguyen; Kerstin Koberwitz; Peter Lichtner; Thomas Meitinger; Helmut Schäfer; Anke Hinney; philippe froguel; Johannes Hebebrand; Günter Brönner
Preferential reciprocal transfer of paternal/maternal DLK1 alleles to obese children: first evidence of polar overdominance in humans.
European journal of human genetics : EJHG 2008;16(9):1126-34.
2008: Fritz Zimprich; Elisabeth Stogmann; Silvia Bonelli; Christoph Baumgartner; Jakob C Mueller; Thomas Meitinger; Alexander Zimprich; Tim M Strom
A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy.
Epilepsia 2008;49(6):1108-9.
2008: Andreas Gschwendtner; Stephan Ripke; Tobias Freilinger; Peter Lichtner; Bertram Müller-Myhsok; H-Erich Wichmann; Thomas Meitinger; Martin Dichgans
Genetic variation in soluble epoxide hydrolase (EPHX2) is associated with an increased risk of ischemic stroke in white Europeans.
Stroke; a journal of cerebral circulation 2008;39(5):1593-6.
2008: David Kemlink; Giuseppe Plazzi; Roberto Vetrugno; Federica Provini; Olli Polo; Karin Stiasny-Kolster; Wolfgang H Oertel; Sona Nevsimalova; Karel Sonka; Birgit Högl; Birgit Frauscher; Georgios M Hadjigeorgiou; Peter P Pramstaller; Peter Lichtner; Thomas Meitinger; Bertram Müller-Myshok; Juliane Winkelmann; Pasquale Montagna
Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13.
Neurogenetics 2008;9(2):75-82.
2008: Angela Döring; Christian Gieger; Divya Mehta; Henning Gohlke; Holger Prokisch; Stefan Coassin; Guido Fischer; Kathleen Henke; Norman Klopp; Florian Kronenberg; Bernhard Paulweber; Arne Pfeufer; Dieter Rosskopf; Henry Völzke; Thomas Illig; Thomas Meitinger; H-Erich Wichmann; Christa Meisinger
SLC2A9 influences uric acid concentrations with pronounced sex-specific effects.
Nature genetics 2008;40(4):430-6.
2008: Steve Bevan; Martin Dichgans; H Erich Wiechmann; Andreas Gschwendtner; Thomas Meitinger; Hugh S Markus
Genetic variation in members of the leukotriene biosynthesis pathway confer an increased risk of ischemic stroke: a replication study in two independent populations.
Stroke; a journal of cerebral circulation 2008;39(4):1109-14.
2008: Moritz F Sinner; Arne Pfeufer; Mahmut Akyol; britt beckmann; Martin Hinterseer; Annette Wacker; Siegfried Perz; Wiebke Sauter; Thomas Illig; Michael Näbauer; Claus Schmitt; H-Erich Wichmann; Albert Schömig; Gerhard Steinbeck; Thomas Meitinger; Stefan Kääb
The non-synonymous coding IKr-channel variant KCNH2-K897T is associated with atrial fibrillation: results from a systematic candidate gene-based analysis of KCNH2 (HERG).
European heart journal 2008;29(7):907-14.
2008: Luisa Benussi; Giuliano Binetti; Elena Sina; Lara Gigola; Thomas Bettecken; Thomas Meitinger; Roberta Ghidoni
A novel deletion in progranulin gene is associated with FTDP-17 and CBS.
Neurobiology of aging 2008;29(3):427-35.
2008: Jane Gibson; William Tapper; David Cox; Weihua Zhang; Arne Pfeufer; Christian Gieger; H-Erich Wichmann; Stefan Kääb; ANDREW COLLINS; Thomas Meitinger; Newton Morton
A multimetric approach to analysis of genome-wide association by single markers and composite likelihood.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(7):2592-7.
2008: Juliane Winkelmann; Peter Lichtner; Barbara Schormair; Manfred Uhr; Stephanie Hauk; Karin Stiasny-Kolster; Claudia Trenkwalder; Walter Paulus; Ines Peglau; Ilonka Eisensehr; Thomas Illig; H-Erich Wichmann; Hildegard Pfister; Jelena Golic; Thomas Bettecken; Benno Pütz; Florian Holsboer; Thomas Meitinger; Bertram Müller-Myhsok
Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome.
Movement disorders : official journal of the Movement Disorder Society 2008;23(3):350-8.
2008: Chul Hyoung Lyoo; Holger Prokisch; Thomas Meitinger; Seung Yeob Lee; Do Hyoun Kim; Myung Sik Lee
Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegeneration.
Movement disorders : official journal of the Movement Disorder Society 2008;23(2):283-4.
2008: Wolfgang Lieb; Björn Mayer; Inke R König; Iris Borwitzky; Anika Götz; Silke Kain; Christian Hengstenberg; Patrick Linsel-Nitschke; Marcus Fischer; Angela Döring; H-Erich Wichmann; Thomas Meitinger; Reinhold Kreutz; Andreas Ziegler; Heribert Schunkert; Jeanette Erdmann
Lack of association between the MEF2A gene and myocardial infarction.
Circulation 2008;117(2):185-91.
2008: Marc Fatar; Mark Stroick; Michael Steffens; Eva Senn; Bjoern Reuter; Simone Bukow; Martin Griebe; Angelika Alonso; Peter Lichtner; Peter Bugert; Thomas Meitinger; Thomas F Wienker; Michael G Hennerici
Single-nucleotide polymorphisms of MMP-2 gene in stroke subtypes.
Cerebrovascular diseases (Basel, Switzerland) 2008;26(2):113-9.
2007: Anneke I den Hollander; Irma Lopez; Suzanne Yzer; Marijke N Zonneveld; Irene M Janssen; Tim M Strom; Jayne Hehir-Kwa; Joris Veltman; Maarten L Arends; Thomas Meitinger; Maria A Musarella; L Ingeborgh Van Den Born; Gerald A Fishman; Irene H Maumenee; Klaus Rohrschneider; Frans P M Cremers; Robert K Koenekoop
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
Investigative ophthalmology & visual science 2007;48(12):5690-8.
2007: Janine Wagenstaller; Stephanie Spranger; Bettina Lorenz-Depiereux; Bernd Kazmierczak; Michaela Nathrath; Dagmar Wahl; Babett Heye; Dieter Glaser; Volkmar Liebscher; Thomas Meitinger; Tim M Strom
Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.
American journal of human genetics 2007;81(4):768-79.
2007: Holger Prokisch; Monika Hartig; Rosa Hellinger; Thomas Meitinger; Thomas Rosenberg
A population-based epidemiological and genetic study of X-linked retinitis pigmentosa.
Investigative ophthalmology & visual science 2007;48(9):4012-8.
2007: Kamil Sedlacek; Katharina Neureuther; Jakob C Mueller; Klaus Stark; Marcus Fischer; Andrea Baessler; Wibke Reinhard; Ulrich Broeckel; Wolfgang Lieb; Jeanette Erdmann; Heribert Schunkert; Günter A J Riegger; Thomas Illig; Thomas Meitinger; Christian Hengstenberg
Lymphotoxin-alpha and galectin-2 SNPs are not associated with myocardial infarction in two different German populations.
Journal of molecular medicine (Berlin, Germany) 2007;85(9):997-1004.
2007: Dietrich Haubenberger; Silvia Beatrice Bonelli; Christoph Hotzy; Petra Leitner; Peter Lichtner; Doris Samal; Regina Katzenschlager; Atbin Djamshidian; Thomas Brücke; Michaela Steffelbauer; Christian Bancher; Josef Grossmann; Gerhard Ransmayr; Tim M Strom; Thomas Meitinger; Thomas Gasser; Eduard Auff; Alexander Zimprich
A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society 2007;22(11):1640-3.
2007: Juliane Winkelmann; Barbara Schormair; Peter Lichtner; Stephan Ripke; Lan Xiong; Shapour Jalilzadeh; Stephany Fulda; Benno Pütz; Gertrud Eckstein; Stephanie Hauk; Claudia Trenkwalder; Alexander Zimprich; Karin Stiasny-Kolster; Wolfgang H Oertel; Cornelius G Bachmann; Walter Paulus; Ines Peglau; Ilonka Eisensehr; Jacques Montplaisir; Gustavo Turecki; Guy Rouleau; Christian Gieger; Thomas Illig; H-Erich Wichmann; Florian Holsboer; Bertram Müller-Myhsok; Thomas Meitinger
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.
Nature genetics 2007;39(8):1000-6.
2007: Werner Koch; Petra Hoppmann; Elena Michou; Vanessa Jung; Arne Pfeufer; Jakob C Mueller; Christian Gieger; H-Erich Wichmann; Thomas Meitinger; Albert Schömig; Adnan Kastrati
Association of variants in the BAT1-NFKBIL1-LTA genomic region with protection against myocardial infarction in Europeans.
Human molecular genetics 2007;16(15):1821-7.
2007: Timo Dirk Müller; Kathrin Reichwald; Anne-Kathrin Wermter; Günter Brönner; Thuy Trang Nguyen; Susann Friedel; Kerstin Koberwitz; Stefan Engeli; Peter Lichtner; Thomas Meitinger; Helmut Schäfer; Johannes Hebebrand; Anke Hinney
No evidence for an involvement of variants in the cannabinoid receptor gene (CNR1) in obesity in German children and adolescents.
Molecular genetics and metabolism 2007;90(4):429-34.
2007: Sheila A Fisher; Andrea Rivera; Lars G Fritsche; Claudia N Keilhauer; Peter Lichtner; Thomas Meitinger; Günther Rudolph; Bernhard H F Weber
Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD).
Human mutation 2007;28(4):406-13.
2007: Emanuele Panza; Giorgio Gimelli; Mario Passalacqua; Amnon Cohen; stefania gimelli; Sabrina Giglio; Cristina Ghezzi; Bianca Sparatore; Babett Heye; Orsetta Zuffardi; Elena I Rugarli; Thomas Meitinger; Giovanni Romeo; Roberto Ravazzolo; Marco Seri
The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies.
International journal of molecular medicine 2007;19(3):429-35.
2007: Mahmut Akyol; Shapour Jalilzadeh; Moritz F Sinner; Siegfried Perz; britt beckmann; Christian Gieger; Thomas Illig; H-Erich Wichmann; Thomas Meitinger; Stefan Kääb; Arne Pfeufer
The common non-synonymous variant G38S of the KCNE1-(minK)-gene is not associated to QT interval in Central European Caucasians: results from the KORA study.
European heart journal 2007;28(3):305-9.
2007: David Kemlink; Olli Polo; Pasquale Montagna; Federica Provini; Karin Stiasny-Kolster; Wolfgang H Oertel; Al W de Weerd; Sona Nevsimalova; Karel Sonka; Birgit Högl; Birgit Frauscher; Werner Poewe; Claudia Trenkwalder; Peter P Pramstaller; Luigi Ferini-Strambi; Marco Zucconi; Eric Konofal; Isabelle Arnulf; Georgios M Hadjigeorgiou; Svenja Happe; Christine Klein; Anja Hiller; Peter Lichtner; Thomas Meitinger; Betram Müller-Myshok; Juliane Winkelmann
Family-based association study of the restless legs syndrome loci 2 and 3 in a European population.
Movement disorders : official journal of the Movement Disorder Society 2007;22(2):207-12.
2007: Cristian Pattaro; Fabio Marroni; Alice Riegler; Deborah Mascalzoni; Irene Pichler; Claudia Beu Volpato; Umberta Dal Cero; Alessandro De Grandi; Clemens Egger; Agatha Eisendle; Christian Fuchsberger; Martin Gögele; Sara Pedrotti; Gerd K Pinggera; Stefan A Stefanov; Florian D Vogl; Christian Wiedermann; Thomas Meitinger; Peter P Pramstaller
The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives.
BMC medical genetics 2007;8():29.
2007: Susann Friedel; Kathrin Reichwald; André Scherag; Harald Brumm; Anne-Kathrin Wermter; Hans-Rudolf Fries; Kerstin Koberwitz; Martin Wabitsch; Thomas Meitinger; Matthias Platzer; Heike Biebermann; Anke Hinney; Johannes Hebebrand
Mutation screen and association studies in the diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13.
BMC genetics 2007;8():17.
2006: Elisabeth Stogmann; Peter Lichtner; Christoph Baumgartner; Silvia Beatrice Bonelli; Eva Assem-Hilger; Fritz Leutmezer; M Schmied; Christoph Hotzy; Tim M Strom; Thomas Meitinger; Fritz Zimprich; Alexander Zimprich
Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations.
Neurology 2006;67(11):2029-31.
2006: Elisabeth Stogmann; Peter Lichtner; Christoph Baumgartner; M Schmied; Christoph Hotzy; Friedrich Asmus; Fritz Leutmezer; Silvia Beatrice Bonelli; Eva Assem-Hilger; Karl Vass; K Hatala; Tim M Strom; Thomas Meitinger; Fritz Zimprich; Alexander Zimprich
Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes.
Neurogenetics 2006;7(4):265-8.
2006: Anneke I den Hollander; Robert K Koenekoop; Suzanne Yzer; Irma Lopez; Maarten L Arends; Krysta Voesenek; Marijke N Zonneveld; Tim M Strom; Thomas Meitinger; Han G Brunner; Carel B Hoyng; L Ingeborgh Van Den Born; Klaus Rohrschneider; Frans P M Cremers
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
American journal of human genetics 2006;79(3):556-61.
2006: Irene Pichler; Jakob C Mueller; Stefan A Stefanov; Alessandro De Grandi; Claudia Beu Volpato; Gerd K Pinggera; Agnes Mayr; Martin Ogriseg; Franz Ploner; Thomas Meitinger; Peter P Pramstaller
Genetic structure in contemporary south Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphisms.
Human biology 2006;78(4):441-64.
2006: Florian D Vogl; Irene Pichler; Susanna Adel; Gerd K Pinggera; Stefano Bracco; Alessandro De Grandi; Claudia Beu Volpato; paolo aridon; Thomas Mayer; Thomas Meitinger; Christine Klein; Giorgio Casari; Peter P Pramstaller
Restless legs syndrome: epidemiological and clinicogenetic study in a South Tyrolean population isolate.
Movement disorders : official journal of the Movement Disorder Society 2006;21(8):1189-95.
2006: Dan E Arking; Arne Pfeufer; Wendy S Post; WEN KAO; Christopher Newton-Cheh; Morna Ikeda; Kristen West; Carl S Kashuk; Mahmut Akyol; Siegfried Perz; Shapour Jalilzadeh; Thomas Illig; Christian Gieger; Chao-Yu Guo; Martin G Larson; H-Erich Wichmann; Eduardo Marban; Christopher J O'Donnell; Joel N Hirschhorn; Stefan Kääb; PETER SPOONER; Thomas Meitinger; Aravinda Chakravarti
A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization.
Nature genetics 2006;38(6):644-51.
2006: Anke Hinney; Thomas Bettecken; Patrick Tarnow; Harald Brumm; Kathrin Reichwald; Peter Lichtner; André Scherag; Thuy Trang Nguyen; Pia Schlumberger; Winfried Rief; Caren Vollmert; Thomas Illig; H-Erich Wichmann; Helmut Schäfer; Matthias Platzer; Heike Biebermann; Thomas Meitinger; Johannes Hebebrand
Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany.
The Journal of clinical endocrinology and metabolism 2006;91(5):1761-9.
2006: Alan Herbert; Norman P Gerry; Matthew B McQueen; Iris M Heid; Arne Pfeufer; Thomas Illig; H-Erich Wichmann; Thomas Meitinger; David Hunter; Frank B Hu; GRaham Colditz; Anke Hinney; Johannes Hebebrand; Kerstin Koberwitz; Xiaofeng Zhu; Richard Cooper; Kristin G Ardlie; Helen N Lyon; Joel N Hirschhorn; Nan M Laird; Marc E Lenburg; Christoph Lange; Michael F Christman
A common genetic variant is associated with adult and childhood obesity.
Science (New York, N.Y.) 2006;312(5771):279-83.
2006: Monika B Hartig; Konstanze Hörtnagel; Barbara Garavaglia; Giovanna Zorzi; Tomasz Kmiec; Thomas Klopstock; Kevin Rostasy; Marina Svetel; Vladimir S Kostic; Markus Schuelke; Evelyn Botz; Adolf Weindl; Ivana Novakovic; Nardo Nardocci; Holger Prokisch; Thomas Meitinger
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.
Annals of neurology 2006;59(2):248-56.
2006: Matthias Elstner; Thomas Bettecken; Maria Wasner; Franziska Anneser; Martin Dichgans; Thomas Meitinger; Thomas Gasser; Thomas Klopstock
Familial carpal tunnel syndrome: further evidence for a genetic contribution.
Clinical genetics 2006;69(2):179-82.
2006: Christian Johannes Gloeckner; Norbert Kinkl; Annette Schumacher; Ralf J Braun; Eric O'Neill; Thomas Meitinger; Walter Kolch; Holger Prokisch; Marius Ueffing
The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity.
Human molecular genetics 2006;15(2):223-32.
2006: Zaher Dawy; Bernhard Goebel; Joachim Hagenauer; Christophe Andreoli; Thomas Meitinger; Jakob C Mueller
Gene mapping and marker clustering using Shannon's mutual information.
IEEE/ACM transactions on computational biology and bioinformatics / IEEE, ACM 2006;3(1):47-56.
2006: Michael Steffens; Claudia Lamina; Thomas Illig; Thomas Bettecken; Rainer Vogler; Patricia Entz; Eun-Kyung Suk; Mohammad R Toliat; Norman Klopp; Almuth Caliebe; Inke R König; Karola Köhler; Jan Ludemann; Amalia Diaz-Lacava; Rolf Fimmers; Peter Lichtner; Andreas Ziegler; Andreas Wolf; Michael Krawczak; Peter Nūrnberg; Jochen Hampe; Stefan Schreiber; Thomas Meitinger; H-Erich Wichmann; Kathryn Roeder; Thomas F Wienker; Max P Baur
SNP-based analysis of genetic substructure in the German population.
Human heredity 2006;62(1):20-9.
2006: Holger Prokisch; Christophe Andreoli; Uwe Ahting; K Heiss; A Ruepp; Curt Scharfe; Thomas Meitinger
MitoP2: the mitochondrial proteome database--now including mouse data.
Nucleic acids research 2006;34(Database issue):D705-11.
2006: Simone Schmitt; Holger Prokisch; Tilman Schlunck; David G Camp; Uwe Ahting; Thomas Waizenegger; Curt Scharfe; Thomas Meitinger; Axel imhof; Walter Neupert; Peter J Oefner; Doron Rapaport
Proteome analysis of mitochondrial outer membrane from Neurospora crassa.
Proteomics 2006;6(1):72-80.
2006: Juliane Winkelmann; Peter Lichtner; Benno Pütz; Claudia Trenkwalder; Stephanie Hauk; Thomas Meitinger; Tim Strom; Bertram Muller-Myhsok
Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome.
Movement disorders : official journal of the Movement Disorder Society 2006;21(1):28-33.
2005: Fortunato Lombardo; Pietro Chiurazzi; Konstanze Hörtnagel; Teresa Arrigo; Mariella Valenzise; Thomas Meitinger; Maria Francesca Messina; Giuseppina Salzano; Ignazio Barberi; Filippo De Luca
Clinical picture, evolution and peculiar molecular findings in a very large pedigree with Wolfram syndrome.
Journal of pediatric endocrinology & metabolism : JPEM 2005;18(12):1391-7.
2005: Saskia Biskup; Jakob C Mueller; Manu Sharma; Peter Lichtner; Alexander Zimprich; Daniela Berg; Ullrich Wüllner; Thomas Illig; Thomas Meitinger; Thomas Gasser
Common variants of LRRK2 are not associated with sporadic Parkinson's disease.
Annals of neurology 2005;58(6):905-8.
2005: Andrea Rivera; Sheila A Fisher; Lars G Fritsche; Claudia N Keilhauer; Peter Lichtner; Thomas Meitinger; Bernhard H F Weber
Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.
Human molecular genetics 2005;14(21):3227-36.
2005: Claudia Lamina; M Steffens; J Mueller; E Lohmussaar; Thomas Meitinger; H-Erich Wichmann
Genetic diversity in german and European populations: looking for substructures and genetic patterns.
Gesundheitswesen (Bundesverband der Ärzte des Öffentlichen Gesundheitsdienstes (Germany)) 2005;67 Suppl 1():S127-31.
2005: F A M Baumeister; D P Auer; Konstanze Hörtnagel; Peter Freisinger; Thomas Meitinger
The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome.
Neuropediatrics 2005;36(3):221-2.
2005: Jakob C Mueller; Julia Fuchs; Anne Hofer; Alexander Zimprich; Peter Lichtner; Thomas Illig; Daniela Berg; Ullrich Wüllner; Thomas Meitinger; Thomas Gasser
Multiple regions of alpha-synuclein are associated with Parkinson's disease.
Annals of neurology 2005;57(4):535-41.
2005: Arne Pfeufer; Shapour Jalilzadeh; Siegfried Perz; Jakob C Mueller; Martin Hinterseer; Thomas Illig; Mahmut Akyol; Cornelia Huth; Andreas Schöpfer-Wendels; Bernhard Kuch; Gerhard Steinbeck; Rolf Holle; Michael Näbauer; H-Erich Wichmann; Thomas Meitinger; Stefan Kääb
Common variants in myocardial ion channel genes modify the QT interval in the general population: results from the KORA study.
Circulation research 2005;96(6):693-701.
2005: Elin Lõhmussaar; Andreas Gschwendtner; Jakob C Mueller; Tõnis Org; Erich Wichmann; Gerhard Hamann; Thomas Meitinger; Martin Dichgans
ALOX5AP gene and the PDE4D gene in a central European population of stroke patients.
Stroke; a journal of cerebral circulation 2005;36(4):731-6.
2005: Jakob C Mueller; Elin Lõhmussaar; Reedik Mägi; Maido Remm; Thomas Bettecken; Peter Lichtner; Saskia Biskup; Thomas Illig; Arne Pfeufer; Jan Luedemann; Stefan Schreiber; Peter P Pramstaller; Irene Pichler; Giovanni Romeo; Anthony Gaddi; Alessandra Testa; H-Erich Wichmann; Andres Metspalu; Thomas Meitinger
Linkage disequilibrium patterns and tagSNP transferability among European populations.
American journal of human genetics 2005;76(3):387-98.
2005: Gerald Stöber; Bernd Kohlmann; Markus Iekiera; Claudia Rubie; Micha Gawlik; Kerstin Möller-Ehrlich; Thomas Meitinger; Thomas Bettecken
Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia.
BMC psychiatry 2005;5():36.
2005: Werner Koch; Petra Hoppmann; Elena Michou; Vanessa Jung; Arne Pfeufer; Jakob Müller; Thomas Meitinger; Albert Schömig; Adnan Kastrati
TaqMan assays for genotyping of single nucleotide polymorphisms present at a disease susceptibility locus on chromosome 6.
Clinical chemistry and laboratory medicine : CCLM / FESCC 2005;43(2):167-72.
2004: Kathrin A Giehl; Gertrud Eckstein; Anna Benet-Pagès; Antonella Tosti; David de Berker; Thomas Meitinger; Bertram Müller-Myhsok; Tim M Strom
A gene locus responsible for the familial hair shaft abnormality pili annulati maps to chromosome 12q24.32-24.33.
The Journal of investigative dermatology 2004;123(6):1073-7.
2004: Alexander Zimprich; Saskia Biskup; Petra Leitner; Peter Lichtner; Matthew J Farrer; Sarah J Lincoln; Jennifer Kachergus; Mary Hulihan; Ryan Uitti; Donald B Calne; A Jon Stoessl; Ronald F Pfeiffer; Nadja Patenge; Iria Carballo Carbajal; Peter Vieregge; Friedrich Asmus; Bertram Müller-Myhsok; dennis dickson; Thomas Meitinger; Tim M Strom; Zbigniew K Wszolek; Thomas Gasser
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.
Neuron 2004;44(4):601-7.
2004: Konstanze Hörtnagel; Nardo Nardocci; Giovanna Zorzi; Barbara Garavaglia; Evelyn Botz; Thomas Meitinger; Thomas Klopstock
Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity.
Neurology 2004;63(5):922-4.
2004: Holger Prokisch; Curt Scharfe; David G Camp; wenzhong xiao; Lior David; Christophe Andreoli; Matthew Monroe; Ronald J Moore; Marina A Gritsenko; Christian Kozany; Kim K Hixson; Heather M Mottaz; Hans Zischka; Marius Ueffing; Zelek S Herman; Ronald W Davis; Thomas Meitinger; Peter J Oefner; Richard D Smith; Lars M Steinmetz
Integrative analysis of the mitochondrial proteome in yeast.
PLoS biology 2004;2(6):e160.
2004: Jakob C Mueller; Christophe Andreoli; Holger Prokisch; Thomas Meitinger
Mechanisms for multiple intracellular localization of human mitochondrial proteins.
Mitochondrion 2004;3(6):315-25.
2004: Imma Rost; Heike Fiegler; Christine Fauth; Philippa Carr; T Bettecken; Jürgen Kraus; C Meyer; A Enders; A Wirtz; Thomas Meitinger; Nigel P Carter; Michael R Speicher
Tetrasomy 21pter-->q21.2 in a male infant without typical Down's syndrome dysmorphic features but moderate mental retardation.
Journal of medical genetics 2004;41(3):e26.
2004: Claudia Dalke; Jana Löster; Helmut Fuchs; Valérie Gailus-Durner; Dian Soewarto; Jack Favor; Angelika Neuhäuser-Klaus; Walter Pretsch; Florian Gekeler; Kei Shinoda; Eberhart Zrenner; Thomas Meitinger; Martin Hrabé De Angelis; Jochen Graw
Electroretinography as a screening method for mutations causing retinal dysfunction in mice.
Investigative ophthalmology & visual science 2004;45(2):601-9.
2004: Hai-Jun Wang; Frank Geller; Astrid Dempfle; Nadine Schäuble; Susann Friedel; Peter Lichtner; Francisco Fontenla-Horro; Stefan A Wudy; Sandra Hagemann; Ludwig Gortner; Klaus Huse; Helmut Remschmidt; Thomas Bettecken; Thomas Meitinger; Helmut Schäfer; Johannes Hebebrand; Anke Hinney
Ghrelin receptor gene: identification of several sequence variants in extremely obese children and adolescents, healthy normal-weight and underweight students, and children with short normal stature.
The Journal of clinical endocrinology and metabolism 2004;89(1):157-62.
2004: Christophe Andreoli; Holger Prokisch; Konstanze Hörtnagel; Jakob C Mueller; Martin Münsterkötter; Curt Scharfe; Thomas Meitinger
MitoP2, an integrated database on mitochondrial proteins in yeast and man.
Nucleic acids research 2004;32(Database issue):D459-62.
2003: Hans Zischka; Gerhard Weber; Peter J A Weber; Anton Posch; Ralf J Braun; Dietmute Bühringer; Ulrich Schneider; Mikkel Nissum; Thomas Meitinger; Marius Ueffing; Christoph Eckerskorn
Improved proteome analysis of Saccharomyces cerevisiae mitochondria by free-flow electrophoresis.
Proteomics 2003;3(6):906-16.
2003: Günther Rudolph; Petros Kalpadakis; Thomas Bettecken; Peter Lichtner; Christos Haritoglou; Martin Hergersberg; Thomas Meitinger; Heinrich Schmidt
Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly.
American journal of ophthalmology 2003;135(5):681-7.
2003: Ingrid Bader; Oliver Brandau; Helene Achatz; Eckart Apfelstedt-Sylla; Martin Hergersberg; Birgit Lorenz; Bernd Wissinger; Bärbel Wittwer; Günther Rudolph; Alfons Meindl; Thomas Meitinger
X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.
Investigative ophthalmology & visual science 2003;44(4):1458-63.
2003: Monika Grabowski; Alexander Zimprich; Bettina Lorenz-Depiereux; Vera Kalscheuer; Friedrich Asmus; Thomas Gasser; Thomas Meitinger; Tim M Strom
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.
European journal of human genetics : EJHG 2003;11(2):138-44.
2003: Konstanze Hörtnagel; Holger Prokisch; Thomas Meitinger
An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria.
Human molecular genetics 2003;12(3):321-7.
2003: Claudia Rubie; Peter Lichtner; Jutta Gärtner; Markus Siekiera; Graziella Uziel; Bernd Kohlmann; Alfried Kohlschuetter; Thomas Meitinger; Gerald Stöber; Thomas Bettecken
Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?
Human mutation 2003;21(1):45-52.
2002: Thomas Bettecken; Claudia Rubie; Peter Lichtner; M Siekiera; Thomas Meitinger; Gerald Stöber
Reduced amplification efficiency of KIAA0027/MLC1 alleles: implications for the molecular diagnosis of megalencephalic leukoencephalopathy with subcortical cysts.
Molecular and cellular probes 2002;16(5):379-84.
2002: Peter Lichtner; T Attié-Bitach; S Schuffenhauer; J Henwood; P Bouvagnet; Peter J Scambler; Thomas Meitinger; M Vekemans
Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p.
Journal of molecular medicine (Berlin, Germany) 2002;80(7):431-42.
2002: Astrid Golla; Annette Jansson; Juliane Ramser; Heide Hellebrand; Robert Zahn; Thomas Meitinger; Bernd H Belohradsky; Alfons Meindl
Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22.
European journal of human genetics : EJHG 2002;10(3):217-21.
2001: Günther Rudolph; Christos Haritoglou; Petros Kalpadakis; Klaus-Peter Boergen; Thomas Meitinger
[LEOPARD syndrome with iris-retina-choroid coloboma. Discordant findings in monozygotic twins (MIM # 151 100)].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 2001;98(11):1101-3.
2001: Alexander Zimprich; Monika Grabowski; Friedrich Asmus; M Naumann; Daniela Berg; M Bertram; K Scheidtmann; P Kern; Juliane Winkelmann; Bertram Müller-Myhsok; L Riedel; M Bauer; Thomas Müller; Mirna Castro; Thomas Meitinger; Tim M Strom; Thomas Gasser
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.
Nature genetics 2001;29(1):66-9.
2001: Günther Rudolph; Alfons Meindl; Martin Bechmann; Hermann-Dieter Schworm; Helene Achatz; Klaus-Peter Boergen; Anselm Kampik; Thomas Berninger; Thomas Meitinger
X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2001;239(3):167-72.
2001: H Schmidt; Günther Rudolph; Martin Hergersberg; K Schneider; S Moradi; Thomas Meitinger
Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred--a possible new syndrome.
Clinical genetics 2001;59(2):99-105.
2001: Kenneth E White; Kenneth B Jonsson; Gwenaelle Carn; G Hampson; T D Spector; M Mannstadt; Bettina Lorenz-Depiereux; Akimitsu Miyauchi; In Myung Yang; Osten Ljunggren; Thomas Meitinger; Tim M Strom; Harald Jüppner; Michael J Econs
The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting.
The Journal of clinical endocrinology and metabolism 2001;86(2):497-500.
2001: Elke Holinski-Feder; Yvonne Müller-Koch; Waltraut Friedl; Gabriela Moeslein; Gisela Keller; Jens Plaschke; W Ballhausen; Manfred Gross; K Baldwin-Jedele; Matthias Jungck; Elisabeth Mangold; Holger Vogelsang; Hans K Schackert; P Lohsea; Jan Murken; Thomas Meitinger
DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2.
Journal of biochemical and biophysical methods 2001;47(1-2):21-32.
2000: Curt Scharfe; M Hauschild; Thomas Klopstock; A J Janssen; P H Heidemann; Thomas Meitinger; Michaela Jaksch
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I.
Journal of medical genetics 2000;37(9):669-73.
2000: Raf Vervoort; Alan Lennon; A C Bird; Brian Tulloch; RA Axton; Maria Giuseppina Miano; A Meindl; Thomas Meitinger; Alfredo Ciccodicola; Alan F Wright
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
Nature genetics 2000;25(4):462-6.
2000: M Bauer; Martin Meyer; L Grimm; Thomas Meitinger; J Zimmer; Thomas Gasser; Marius Ueffing; Hans R Widmer
Nonviral glial cell-derived neurotrophic factor gene transfer enhances survival of cultured dopaminergic neurons and improves their function after transplantation in a rat model of Parkinson's disease.
Human gene therapy 2000;11(11):1529-41.
2000: Kenneth E White; B Lorenz; William Evans; Thomas Meitinger; Tim M Strom; Michael J Econs
Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene.
Gene 2000;246(1-2):347-56.
2000: Kathryn L Evans; D Lawson; Thomas Meitinger; D H R Blackwood; David J Porteous
Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder.
American journal of medical genetics 2000;96(2):158-60.
2000: Victor L Ruiz-Perez; S E Ide; Tim M Strom; B Lorenz; D Wilson; K Woods; L King; Clair A Francomano; Peter Freisinger; S Spranger; B Marino; B Dallapiccola; M Wright; Thomas Meitinger; Mihael H Polymeropoulos; Judith A Goodship
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
Nature genetics 2000;24(3):283-6.
2000: Peter Lichtner; R König; T Hasegawa; Hilde Van Esch; Thomas Meitinger; S Schuffenhauer
An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.
Journal of medical genetics 2000;37(1):33-7.
2000: Elke Holinski-Feder; Edwin Reyniers; Sabine Uhrig; Astrid Golla; Jan Wauters; Peter M Kroisel; P Bossuyt; Imma Rost; Kerry Baldwin Jedele; H Zierler; S Schwab; D Wildenauer; Michael R Speicher; Patrick J Willems; Thomas Meitinger; R Frank Kooy
Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).
American journal of human genetics 2000;66(1):16-25.
2000: Curt Scharfe; Paolo Zaccaria; K Hoertnagel; Michaela Jaksch; Thomas Klopstock; M Dembowski; Roland Lill; Holger Prokisch; Klaus-Dieter Gerbitz; Walter Neupert; Hans-Werner Mewes; Thomas Meitinger
MITOP, the mitochondrial proteome database: 2000 update.
Nucleic acids research 2000;28(1):155-8.
1999: Valeria Tiranti; Michaela Jaksch; Sabine Hofmann-Thiel; C Galimberti; K Hoertnagel; L Lulli; Peter Freisinger; Laurence A Bindoff; Klaus-Dieter Gerbitz; G P Comi; Graziella Uziel; Massimo Zeviani; Thomas Meitinger
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.
Annals of neurology 1999;46(2):161-6.
1999: Curt Scharfe; Paolo Zaccaria; K Hoertnagel; Michaela Jaksch; Thomas Klopstock; Roland Lill; Holger Prokisch; Klaus-Dieter Gerbitz; Hans-Werner Mewes; Thomas Meitinger
MITOP: database for mitochondria-related proteins, genes and diseases.
Nucleic acids research 1999;27(1):153-5.
1998: Valeria Tiranti; K Hoertnagel; Rosalba Carrozzo; C Galimberti; M Munaro; M Granatiero; L Zelante; P Gasparini; R Marzella; M Rocchi; M P Bayona-Bafaluy; J A Enriquez; Graziella Uziel; E Bertini; Carlo Dionisi Vici; B Franco; Thomas Meitinger; Massimo Zeviani
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.
American journal of human genetics 1998;63(6):1609-21.
1998: Tim M Strom; Konstanze Hörtnagel; Sabine Hofmann-Thiel; Florian Gekeler; Curt Scharfe; W Rabl; Klaus-Dieter Gerbitz; Thomas Meitinger
Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein.
Human molecular genetics 1998;7(13):2021-8.
1998: Michaela Jaksch; Sabine Hofmann-Thiel; S Kleinle; S Liechti-Gallati; Dieter Pongratz; Josef Müller-Höcker; Kerry Baldwin Jedele; Thomas Meitinger; Klaus-Dieter Gerbitz
A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.
Journal of medical genetics 1998;35(11):895-900.
1998: L Grimm; Elke Holinski-Feder; J Teodoridis; Bea Scheffer; Dirk Schindelhauer; Thomas Meitinger; Marius Ueffing
Analysis of the human GDNF gene reveals an inducible promoter, three exons, a triplet repeat within the 3'-UTR and alternative splice products.
Human molecular genetics 1998;7(12):1873-86.
1998: Tim M Strom; Gerald Nyakatura; Eckart Apfelstedt-Sylla; Heide Hellebrand; Birgit Lorenz; Bernhard H F Weber; K Wutz; N Gutwillinger; K Rüther; Bernd Drescher; C Sauer; Eberhart Zrenner; Thomas Meitinger; André Rosenthal; Alfons Meindl
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
Nature genetics 1998;19(3):260-3.
1998: Birgit Lorenz; Carmen Migliaccio; Peter Lichtner; C Meyer; Tim M Strom; Michele D'Urso; J Becker; Alfredo Ciccodicola; Thomas Meitinger
Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse.
European journal of human genetics : EJHG 1998;6(3):283-90.
1998: S Schuffenhauer; Peter Lichtner; P Peykar-Derakhshandeh; Jan Murken; O A Haas; E Back; G Wolff; B Zabel; Barisic ingeborg; A Rauch; Z Borochowitz; B Dallapiccola; M Ross; Thomas Meitinger
Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2).
European journal of human genetics : EJHG 1998;6(3):213-25.
1998: Birgit Lorenz; Fiona Francis; Klaus Gempel; A Böddrich; M Josten; Wolfgang Schmahl; J Schmidt; Hans Lehrach; Thomas Meitinger; Tim M Strom
Spermine deficiency in Gy mice caused by deletion of the spermine synthase gene.
Human molecular genetics 1998;7(3):541-7.
1998: Maria Giuseppina Miano; Diana Valverde; T Solans; Barbara Grammatico; Carmen Migliaccio; V Cirigliano; C DeBernardo; Valerio Ventruto; Thomas Meitinger; A Wright; G Del Porto; Montserrat Baiget; Michele D'Urso; Alfredo Ciccodicola
Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online.
Human mutation 1998;12(3):212-3.
1998: Sabine Hofmann-Thiel; Peter Lichtner; S Schuffenhauer; Klaus-Dieter Gerbitz; Thomas Meitinger
Assignment of the human genes coding for cytochrome c oxidase subunits Va (COX5A), VIc (COX6C) and VIIc (COX7C) to chromosome bands 15q25, 8q22-->q23 and 5q14 and of three pseudogenes (COX5AP1, COX6CP1, COX7CP1) to 14q22, 16p12 and 13q14-->q21 by FISH and radiation hybrid mapping.
Cytogenetics and cell genetics 1998;83(3-4):226-7.
1997: Fiona Francis; Tim M Strom; Steffen Hennig; A Böddrich; Birgit Lorenz; Oliver Brandau; Klaus Mohnike; M Cagnoli; C Steffens; S Klages; Katja Borzym; T Pohl; Claudine Oudet; Michael J Econs; Peter S N Rowe; Richard Reinhardt; Thomas Meitinger; Hans Lehrach
Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.
Genome research 1997;7(6):573-85.
1997: Peter S N Rowe; Claudine Oudet; Fiona Francis; Christiane Sinding; Solange Pannetier; Michael J Econs; Tim M Strom; Thomas Meitinger; M Garabedian; A David; M A Macher; E Questiaux; Ewa Popowska; Ewa Pronicka; A P Read; A Mokrzycki; Francis Glorieux; Marc K Drezner; André Hanauer; Hans Lehrach; J N Goulding; Jeffrey L H O'Riordan
Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).
Human molecular genetics 1997;6(4):539-49.
1997: Tim M Strom; Fiona Francis; Birgit Lorenz; A Böddrich; Michael J Econs; Hans Lehrach; Thomas Meitinger
Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia.
Human molecular genetics 1997;6(2):165-71.
1997: Thomas Meitinger; Curt Scharfe; K Call; N Moschonas
Report of the second international workshop on human chromosome 10 mapping 1997.
Cytogenetics and cell genetics 1997;78(3-4):184-94.
1996: Hermann-Dieter Schworm; Kerry Baldwin Jedele; E Holinski; K Hörtnagel; Günther Rudolph; Klaus-Peter Boergen; Anselm Kampik; Thomas Meitinger
Discordant monozygotic twins with the Schimmelpenning-Feuerstein-Mims syndrome.
Clinical genetics 1996;50(5):393-7.
1996: D Schindelhauer; Heide Hellebrand; L Grimm; I Bader; Thomas Meitinger; M Wehnert; M Ross; Alfons Meindl
Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval.
Genome research 1996;6(11):1056-69.
1996: S Schuffenhauer; A Kobelt; C Daumer-Haas; C Löffler; G Müller; Jan Murken; Thomas Meitinger
Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen.
American journal of medical genetics 1996;65(1):56-9.
1996: S C Daw; C Taylor; M Kraman; K Call; J Mao; S Schuffenhauer; Thomas Meitinger; T Lipson; Judith A Goodship; Peter J Scambler
A common region of 10p deleted in DiGeorge and velocardiofacial syndromes.
Nature genetics 1996;13(4):458-60.
1996: Burkhard Tümmler; T Storrs; V Dziadek; Thilo Dörk; Thomas Meitinger; Astrid Golla; R M Bertele-Harms; H K Harms; E Schröder; A Claass; J Rutjes; Reinhard Schneppenheim; I Bauer; K Breuel; Manfred Stuhrmann; Jörg Schmidtke; M Lindner; Antonin Eigel; Jürgen Horst; R Kaiser; M J Lentze; K Schmidt; H von der Hardt; Xavier Estivill
Geographic distribution and origin of CFTR mutations in Germany.
Human genetics 1996;97(6):727-31.
1996: S von Gernet; S Schuffenhauer; Astrid Golla; Peter Lichtner; S Balg; Wolfgang Mühlbauer; Jan Murken; J Fairley; Thomas Meitinger
Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p.
American journal of medical genetics 1996;63(1):177-84.
1996: Alfons Meindl; K Dry; K Herrmann; F Manson; Alfredo Ciccodicola; A Edgar; M R Carvalho; H Achatz; Heide Hellebrand; A Lennon; Carmen Migliaccio; K Porter; Eberhart Zrenner; A Bird; MR Jay; B Lorenz; B Wittwer; Michele D'Urso; Thomas Meitinger; A Wright
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).
Nature genetics 1996;13(1):35-42.
1996: S Schuffenhauer; T Buchholz; S Stengel-Rutkowski; Karin Buiting; H Schmidt; Thomas Meitinger
A familial deletion in the Prader-Willi syndrome region including the imprinting control region.
Human mutation 1996;8(3):288-92.
1995: Alfons Meindl; M R Carvalho; K Herrmann; B Lorenz; H Achatz; B Lorenz; Eckart Apfelstedt-Sylla; B Wittwer; M Ross; Thomas Meitinger
A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa.
Human molecular genetics 1995;4(12):2339-46.
1995: FC Mansergh; Paul F Kenna; Günther Rudolph; Thomas Meitinger; G Jane Farrar; R Kumar-Singh; J Scorer; A M Hally; L Mynett-Johnson; Marian Humphries
Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy.
Journal of medical genetics 1995;32(11):855-8.
1995: S Schuffenhauer; Oliver Bartsch; Markus Stumm; T Buchholz; T Petropoulou; Stefan Kraft; Bernd H Belohradsky; Georg Klaus Hinkel; Thomas Meitinger; Rolf-Dieter Wegner
DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor.
Human genetics 1995;96(5):562-71.
1995: D Schindelhauer; S Schuffenhauer; Thomas Gasser; Alexander Steinkasserer; Thomas Meitinger
The gene coding for glial cell line derived neurotrophic factor (GDNF) maps to chromosome 5p12-p13.1.
Genomics 1995;28(3):605-7.
1995: Alfons Meindl; B Lorenz; H Achatz; Heide Hellebrand; P Schmitz-Valckenberg; Thomas Meitinger
Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.
Human molecular genetics 1995;4(3):489-90.
1995: S Schuffenhauer; Heide Seidel; H Oechsler; B Belohradsky; U Bernsau; Jan Murken; Thomas Meitinger
DiGeorge syndrome and partial monosomy 10p: case report and review.
Annales de génétique 1995;38(3):162-7.
1994: Murray H Brilliant; R King; U Francke; S Schuffenhauer; Thomas Meitinger; JM Gardner; D Durham-Pierre; Y Nakatsu
The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2.
Pigment cell research / sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society 1994;7(6):398-402.
1994: B Obermaier-Kusser; B Lorenz; S Schubring; A Paprotta; K Zerres; Thomas Meitinger; Françoise Meire; P Cochaux; A Blankenagel; G Kommerell
Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy.
American journal of human genetics 1994;55(5):1063-6.
1994: Günther Rudolph; Werner Blum; E W Jenne; M Schöning; H Enders; Thomas Meitinger; Jan Murken; Anselm Kampik
Growth hormone (GH), insulin-like growth factors (IGFs), and IGF-binding protein-3 (IGFBP-3) in a child with Proteus syndrome.
American journal of medical genetics 1994;50(2):204-10.
1994: K Will; Thilo Dörk; Manfred Stuhrmann; Thomas Meitinger; R Bertele-Harms; Burkhard Tümmler; Jörg Schmidtke
A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.
The Journal of clinical investigation 1994;93(4):1852-9.
1994: Astrid Golla; A Deufel; C Aulehla-Scholz; I Böhm; B Hilz; Thomas Meitinger; T Deufel
Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency.
Human mutation 1994;3(1):67-8.
1994: A Deufel; T Deufel; Astrid Golla; H Achatz; R Bertele-Harms; Adelbert A Roscher; Thomas Meitinger
Three novel mutations (I506S, S466X, 1651A-->T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of southern German descent.
Human mutation 1994;3(1):64-6.
1993: Thomas Meitinger; Alfons Meindl; P Bork; B Rost; Chris Sander; M Haasemann; Jan Murken
Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure.
Nature genetics 1993;5(4):376-80.
1993: Thomas Meitinger; Astrid Golla; C Dörner; A Deufel; C Aulehla-Scholz; I Böhm; D Reinhardt; T Deufel
In frame deletion (delta F311) within a short trinucleotide repeat of the first transmembrane region of the cystic fibrosis gene.
Human molecular genetics 1993;2(12):2173-4.
1993: T Deufel; H Rabe; T Wieser; Thomas Meitinger; J Rosenecker; R Bertele-Harms; K Harms; Hans-Beat Hadorn; Adelbert A Roscher
Mutation analysis in the diagnosis of cystic fibrosis.
European journal of pediatrics 1993;152(11):909-11.
1993: Alfons Meindl; D Hosenfeld; W Brückl; S Schuffenhauer; J Jenderny; A Bacskulin; H C Oppermann; O Swensson; Pierre Bouloux; Thomas Meitinger
Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.
Journal of medical genetics 1993;30(10):838-42.
1993: Thomas Gasser; Thomas Meitinger
[Neurogenetics. Part 3. New developments in gene mapping and diagnosis].
Der Nervenarzt 1993;64(6):353-9.
1993: Pierre Bouloux; J Kirk; Patricia B Munroe; VM Duke; Alfons Meindl; A Hilson; D Grant; N Carter; D Betts; Thomas Meitinger
Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus.
Clinical genetics 1993;43(4):169-73.
1992: Wolfgang Berger; Alfons Meindl; B de Leeuw; A de Roos; T J van de Pol; Thomas Meitinger; Saskia D van der Velde-Visser; H Achatz; Ad Geurts van Kessel; Frans P M Cremers
Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome.
Human genetics 1992;90(3):243-6.
1992: Wolfgang Berger; Dorien J R van De Pol; M Warburg; Andreas Gal; L Bleeker-Wagemakers; H de Silva; Alfons Meindl; Thomas Meitinger; Frans P M Cremers; Hans-Hilger Ropers
Mutations in the candidate gene for Norrie disease.
Human molecular genetics 1992;1(7):461-5.
1992: Alfons Meindl; Wolfgang Berger; Thomas Meitinger; Dorien J R van De Pol; H Achatz; C Dörner; M Haasemann; Heide Hellebrand; Andreas Gal; Frans P M Cremers
Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.
Nature genetics 1992;2(2):139-43.
1992: D Bick; Brunella Franco; R J Sherins; B Heye; L Pike; J Crawford; A Maddalena; B Incerti; A Pragliola; Thomas Meitinger; A Ballabio
Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome.
The New England journal of medicine 1992;326(26):1752-5.
1992: T Deufel; Astrid Golla; D Iles; Alfons Meindl; Thomas Meitinger; D Schindelhauer; A DeVries; Dieter Pongratz; D H MacLennan; keith jack johnson
Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.
American journal of human genetics 1992;50(6):1151-61.
1992: M R Carvalho; B Müller; E Rötzer; T Berninger; G Kommerell; A Blankenagel; M L Savontaus; Thomas Meitinger; B Lorenz
Leber's hereditary optic neuroretinopathy and the X-chromosomal susceptibility factor: no linkage to DXs7.
Human heredity 1992;42(5):316-20.
1991: Thomas Gasser; Claudia Trenkwalder; Thomas Meitinger; T N Witt; Jan Murken; Wolfgang H Oertel
[Neurogenetics--the challenge for neurology. 1. Neurogenetic diseases].
Der Nervenarzt 1991;62(10):590-608.
1991: Thomas Meitinger; Thomas Gasser
[Neurogenetics--the challenge for neurology. Part 1. Gene mapping and gene diagnostics].
Der Nervenarzt 1991;62(10):583-9.
1990: Thomas Meitinger; B Heye; C Petit; Jacqueline Levilliers; Astrid Golla; C Moraine; B Dalla Piccola; W G Sippell; Jan Murken; A Ballabio
Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232.
American journal of human genetics 1990;47(4):664-9.
1989: Thomas Meitinger; N A Fraser; B Lorenz; E Zrenner; Jan Murken; IW Craig
Linkage of X-linked retinitis pigmentosa to the hypervariable DNA marker M27 beta (DXS255).
Human genetics 1989;81(3):283-6.
1988: Thomas Meitinger; Y Boyd; R Anand; IW Craig
Mapping of Xp21 translocation breakpoints in and around the DMD gene by pulsed field gel electrophoresis.
Genomics 1988;3(4):315-22.