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Peter Lichtner

Research Profile

Genes & Molecular Sequences

Physiology

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Germany

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Anatomy

Chromosomes, Human, Pair 10

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Homeodomain Proteins

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Franziska Hopfner; Franziska Knauf; Gregor Kuhlenbäumer; Peter Lichtner; Brit Mollenhauer; Annette Peters; Walter Pirker; Eva C Schulte; Claudia Trenkwalder; Benjamin Bereznai; Thomas Brücke; Christian Gieger; Dietrich Haubenberger; Alexander Zimprich; Juliane Winkelmann
The role of SCARB2 as susceptibility factor in Parkinson's disease.
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.
Dorothea Buck; Sabine Cepok; Bénédicte Dubois; Christian Gieger; An Goris; Verena Grummel; Natalie Hauenstein; Eva Albrecht; Muhammad Aslam; Achim Berthele; Angela Jochim; Peter Lichtner; Juliane Winkelmann; Bernhard Hemmer
Genetic variants in the immunoglobulin heavy chain locus are associated with the IgG index in multiple sclerosis.

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All Publications

2013: Franziska Hopfner; Franziska Knauf; Gregor Kuhlenbäumer; Peter Lichtner; Brit Mollenhauer; Annette Peters; Walter Pirker; Eva C Schulte; Claudia Trenkwalder; Benjamin Bereznai; Thomas Brücke; Christian Gieger; Dietrich Haubenberger; Alexander Zimprich; Juliane Winkelmann
The role of SCARB2 as susceptibility factor in Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society 2013;28(4):538-40.
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: Dorothea Buck; Sabine Cepok; Bénédicte Dubois; Christian Gieger; An Goris; Verena Grummel; Natalie Hauenstein; Eva Albrecht; Muhammad Aslam; Achim Berthele; Angela Jochim; Peter Lichtner; Juliane Winkelmann; Bernhard Hemmer
Genetic variants in the immunoglobulin heavy chain locus are associated with the IgG index in multiple sclerosis.
Annals of neurology 2013;73(1):86-94.
2012: Kathrin A Giehl; Elisabeth Graf; Lutz Langbein; Peter Lichtner; Sandra M Pasternack; Silke Praetzel-Wunder; Mike Rogers; Thomas Ruzicka; Kerstin Seidl; Regina C Betz; Markus Braun-Falco; Gertrud Eckstein; Tim M Strom
Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.
American journal of human genetics 2012;91(4):754-9.
2012: Eva C Schulte; Claudia Trenkwalder; Alexander Zimprich; Benjamin Bereznai; Thomas Brücke; Christian Gieger; Dietrich Haubenberger; Peter Lichtner; Brit Mollenhauer; Maria J Molnar; Annette Peters; Walter Pirker; Juliane Winkelmann
Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease.
Neurogenetics 2012;13(3):281-5.
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.
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: 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: Franziska Hopfner; Stefan Kääb; Franziska Knauf; Wolfram Kunz; Peter Lichtner; Christoph Maier; Christian Maihöfner; Michael Näbauer; Barbara Nowak; Konrad Oexle; Arne Pfeufer; Barbara Schormair; Claudia Sommer; Thomas R Tölle; Rolf-Detlef Treede; Claudia Trenkwalder; Ralf Baron; Achim Berthele; Andreas Binder; Christian Gieger; Uwe Heemann; Friedrich Zimprich; Juliane Winkelmann
Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.
BMC neurology 2011;11():134.
2010: Alfons Meindl; Heide Hellebrand; Constanze Wiek; Verena Erven; Barbara Wappenschmidt; Dieter Niederacher; Marcel Freund; Peter Lichtner; Linda Hartmann; Heiner Schaal; Juliane Ramser; Ellen Honisch; Christian Kubisch; Hans E Wichmann; Karin Kast; Helmut Deissler; Christoph Engel; Bertram Müller-Myhsok; Kornelia Neveling; Marion Kiechle; Christopher G Mathew; Detlev Schindler; Rita K Schmutzler; Helmut Hanenberg
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.
Nature genetics 2010;42(5):410-4.
2010: Christoph B Lücking; Peter Lichtner; E R Kramer; C Gieger; Thomas Illig; Martin Dichgans; Daniela Berg; Thomas Gasser
Polymorphisms in the receptor for GDNF (RET) are not associated with Parkinson's disease in Southern Germany.
Neurobiology of aging 2010;31(1):167-8.
2009: Manu Sharma; Peter Lichtner; Rejko Kruger; Daniela Berg; Claudia Schulte; Thomas Illig; Olaf Riess; Thomas Gasser
Further delineation of the association signal on chromosome 5 from the first whole genome association study in Parkinson's disease.
Neurobiology of aging 2009;30(10):1706-9.
2009: Rubén Fernández-Santiago; Sabine Hoenig; Peter Lichtner; Anne-Dorte Sperfeld; Manu Sharma; Daniela Berg; Oliver Weichenrieder; Thomas Illig; Katharina Eger; Thomas Meyer; Johanna Anneser; Christoph Münch; Stephan Zierz; Thomas Gasser; Albert Ludolph
Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis.
Journal of neurology 2009;256(8):1337-42.
2009: Alexander Zimprich; Claudia Schulte; Eva Reinthaler; Dietrich Haubenberger; Jörg Balzar; Peter Lichtner; Salwa El Tawil; S Edris; Thomas Foki; Walter Pirker; Regina Katzenschlager; Gerhard Daniel; Thomas Brücke; Eduard Auff; Thomas Gasser
PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's disease.
Parkinsonism & related disorders 2009;15(7):532-4.
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: Julia Fuchs; Jakob C Mueller; Peter Lichtner; Claudia Schulte; Marita Munz; Daniela Berg; Ullrich Wüllner; Thomas Illig; Manu Sharma; Thomas Gasser
The transcription factor PITX3 is associated with sporadic Parkinson's disease.
Neurobiology of aging 2009;30(5):731-8.
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: 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.
2008: Nabila Bouatia-Naji; Franck De Graeve; Günter Brönner; Cécile Lecoeur; Vincent Vatin; Emmanuelle Durand; Peter Lichtner; Thuy T Nguyen; Barbara Heude; Jacques Weill; Claire Lévy-Marchal; Johannes Hebebrand; philippe froguel; David Meyre
INS VNTR is not associated with childhood obesity in 1,023 families: a family-based study.
Obesity (Silver Spring, Md.) 2008;16(6):1471-5.
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: 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: Juliane Ramser; Mary Ellen Ahearn; Claus Lenski; Kemal O Yariz; Heide Hellebrand; Michael von Rhein; Robin D Clark; Rita K Schmutzler; Peter Lichtner; Eric Hoffman; Alfons Meindl; Lisa Baumbach
Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.
American journal of human genetics 2008;82(1):188-93.
2007: H-J Wang; Anne-Kathrin Wermter; T T Nguyen; André Scherag; Kathrin Reichwald; B Waldenmaier; Peter Lichtner; Thomas Bettecken; Johannes Hebebrand; Anke Hinney
No association of sequence variants in the neuropeptide Y2 receptor (NPY2R) gene with early onset obesity in Germans.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et métabolisme 2007;39(11):840-4.
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: Rob W J Collin; Ersan Kalay; Jaap Oostrik; Refik Caylan; Bernd Wollnik; Selçuk Arslan; Anneke I den Hollander; Yelda Birinci; Peter Lichtner; Tim M Strom; Bayram Toraman; Lies Hoefsloot; Cor W R J Cremers; Han G Brunner; Frans P M Cremers; Ahmet Karaguzel; Hannie Kremer
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.
Human mutation 2007;28(7):718-23.
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: 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.
2006: C Schulte; Manu Sharma; Jakob C Mueller; Peter Lichtner; Jürgen Prestel; Daniela Berg; Thomas Gasser
Comprehensive association analysis of the NOS2A gene with Parkinson disease.
Neurology 2006;67(11):2080-2.
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: Manu Sharma; Jakob C Mueller; Alexander Zimprich; Peter Lichtner; Anne Hofer; Petra Leitner; Sylvia Maass; Daniela Berg; Alexandra Dürr; Vincenzo Bonifati; Giuseppe De Michele; B Oostra; Alexis Brice; Nicholas W Wood; Bertram Muller-Myhsok; Thomas Gasser
The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations.
Journal of medical genetics 2006;43(7):557-62.
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: Bettina Lorenz-Depiereux; Anna Benet-Pages; Gertrud Eckstein; Yardena Tenenbaum-Rakover; Janine Wagenstaller; Dov Tiosano; Ruth Gershoni-Baruch; Norbert Albers; Peter Lichtner; Dirk Schnabel; Ze'ev Hochberg; Tim M Strom
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
American journal of human genetics 2006;78(2):193-201.
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: 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: 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: Daniela Berg; Katherine J Schweitzer; Petra Leitner; Alexander Zimprich; Peter Lichtner; Petra Belcredi; Theresa Brüssel; Claudia Schulte; Sylvia Maass; Thomas Nägele; Zbigniew K Wszolek; Thomas Gasser
Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease*.
Brain : a journal of neurology 2005;128(Pt 12):3000-11.
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: Thomas Klopstock; Matthias Elstner; Christoph B Lücking; Bertram Müller-Myhsok; Thomas Gasser; Evelyn Botz; Peter Lichtner; Konstanze Hörtnagel
Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease.
Neuroscience letters 2005;379(3):195-8.
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: 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: Friedrich Asmus; Sarah Schoenian; Peter Lichtner; Marita Munz; Petra Mayer; Bertram Muller-Myhsok; Alexander Zimprich; Helmut Remschmidt; Johannes Hebebrand; Oliver Bandmann; Thomas Gasser
Epsilon-sarcoglycan is not involved in sporadic Gilles de la Tourette syndrome.
Neurogenetics 2005;6(1):55-6.
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: 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.
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: 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.
2000: Hilde Van Esch; Peter Groenen; M Andrew Nesbit; S Schuffenhauer; Peter Lichtner; G Vanderlinden; Brian Harding; R Beetz; R W Bilous; I Holdaway; N J Shaw; Jean-Pierre Fryns; Wim Van de Ven; Rajesh V Thakker; koenraad devriendt
GATA3 haplo-insufficiency causes human HDR syndrome.
Nature 2000;406(6794):419-22.
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.
1999: Matthias F Bauer; Klaus Gempel; Andreas S Reichert; G A Rappold; Peter Lichtner; Klaus-Dieter Gerbitz; Walter Neupert; Michael Brunner; Sabine Hofmann-Thiel
Genetic and structural characterization of the human mitochondrial inner membrane translocase.
Journal of molecular biology 1999;289(1):69-82.
1999: Oliver Bartsch; A Wagner; Georg Klaus Hinkel; Peter Lichtner; Jan Murken; S Schuffenhauer
No evidence for chromosomal microdeletions at the second DiGeorge syndrome locus on 10p near D10S585.
American journal of medical genetics 1999;83(5):425-6.
1999: S Schuffenhauer; H J Leifheit; Peter Lichtner; H Peters; Jan Murken; P Emmerich
De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings.
Journal of medical genetics 1999;36(3):233-6.
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: 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.
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.