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1

Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?

Claudia Rubie, Peter Lichtner, Jutta Gärtner, Markus Siekiera, Graziella Uziel, Bernd Kohlmann, Alfried Kohlschütter, Thomas Meitinger, Gerald Stöber, Thomas Bettecken

Journal:

Year:

2003

Language:

english

File:

PDF, 174 KB

english, 2003

2

Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb

Stefan Vielhaber, Sibylle Jakubiczka, J. Michael Schröder, Michael Sailer, Helmut Feistner, Hans-Jochen Heinze, Peter Wieacker, Thomas Bettecken

Journal:

Year:

2002

Language:

english

File:

PDF, 375 KB

english, 2002

3

Another mutation within the HMG-box of the SRY gene associated with Swyer syndrome

Sibylle Jakubiczka, Thomas Bettecken, Markus Stumm, Josef Neulen, Peter Wieacker

Journal:

Year:

1999

Language:

english

File:

PDF, 12 KB

english, 1999

4

Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing

Sibylle Jakubiczka, Beate Mitulla, Thomas Liehr, Joachim Arnemann, Hans Lehrach, Ralf Sudbrak, Markus Stumm, Peter F. Wieacker, Thomas Bettecken

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 98 KB

english, 2000

5

Flow cytometric analysis of small DNA content differences in heterogeneous cell populations: Human amniotic fluid cells

H. Koch, T. Bettecken, M. Kubbies, D. Salk, J. W. Smith, P. S. Rabinovitch

Journal:

Cytometry Part A

Year:

1984

Language:

english

File:

PDF, 533 KB

english, 1984

6

The fate of the primary diploid population during spontaneous transformation of growth factor-supplemented murine cell cultures

M. Kubbies, R. Friedl, T. Bettecken, H. Hoehn

Journal:

Cytometry Part A

Year:

1986

Language:

english

File:

PDF, 606 KB

english, 1986

7

Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene

Lars G. Fritsche, Sandra Freitag-Wolf, Thomas Bettecken, Thomas Meitinger, Claudia N. Keilhauer, Michael Krawczak, Bernhard H.F. Weber

Journal:

Year:

2009

Language:

english

File:

PDF, 183 KB

english, 2009

8

Nucleosome DNA sequence structure of isochores

Zakharia M Frenkel, Thomas Bettecken, Edward N Trifonov

Journal:

Year:

2011

Language:

english

File:

PDF, 906 KB

english, 2011

9

Human nucleosomes: special role of CG dinucleotides and Alu-nucleosomes

Thomas Bettecken, Zakharia M Frenkel, Edward N Trifonov

Journal:

Year:

2011

Language:

english

File:

PDF, 463 KB

english, 2011

10

Über EEG-Veränderungen durch Piperazin im Kindesalter

Friedrich Bettecken

Journal:

European Journal of Pediatrics

Year:

1957

Language:

german

File:

PDF, 426 KB

german, 1957

11

A 400-kb tandem duplication within the dystrophin gene leads to severe Becker muscular dystrophy

R. Gold, W. Kreß, T. Bettecken, H. Reichmann, C. R. Müller

Journal:

Journal of Neurology

Year:

1994

Language:

english

File:

PDF, 375 KB

english, 1994

12

Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin andOTC

Sibylle Jakubiczka, Thomas Bettecken, Klaus Mohnike, Reinhard Schneppenheim, Markus Stumm, Holger Tönnies, Marianne Volleth, Peter Wieacker

Journal:

European Journal of Pediatrics

Year:

2007

Language:

english

File:

PDF, 116 KB

english, 2007

13

A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype

M. Hergersberg, Jaya Balakrishnan, Thomas Bettecken, Francoise Chevalier-Porst, Christian Brägger, René Burger, Inge Einschenk, Sabina Liechti-Gallati, Michael Morris, Daniel Schorderet, Francine Thon

Journal:

Year:

1997

Language:

english

File:

PDF, 42 KB

english, 1997

14

Family-based association study of serotonergic candidate genes and attention-deficit/hyperactivity disorder in a German sample

P. Heiser, A. Dempfle, S. Friedel, K. Konrad, A. Hinney, H. Kiefl, S. Walitza, T. Bettecken, K. Saar, M. Linder, A. Warnke, B. Herpertz-Dahlmann, H. Schäfer, H. Remschmidt, J. Hebebrand

Journal:

Journal of Neural Transmission

Year:

2007

Language:

english

File:

PDF, 103 KB

english, 2007

15

The GABA transporter 1 (SLC6A1): a novel candidate gene for anxiety disorders

C. K. Thoeringer, S. Ripke, P. G. Unschuld, S. Lucae, M. Ising, T. Bettecken, M. Uhr, M. E. Keck, B. Mueller-Myhsok, F. Holsboer, E. B. Binder, A. Erhardt

Journal:

Journal of Neural Transmission

Year:

2009

Language:

english

File:

PDF, 339 KB

english, 2009

16

Familial carpal tunnel syndrome: further evidence for a genetic contribution

Matthias Elstner, Thomas Bettecken, Maria Wasner, Franziska Anneser, Martin Dichgans, Thomas Meitinger, Thomas Gasser, Thomas Klopstock

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 117 KB

english, 2006

17

More CLEC16A gene variants associated with multiple sclerosis

S. Nischwitz, S. Cepok, A. Kroner, C. Wolf, M. Knop, F. Müller-Sarnowski, H. Pfister, P. Rieckmann, B. Hemmer, M. Ising, M. Uhr, T. Bettecken, F. Holsboer, B. Müller-Myhsok, F. Weber

Journal:

Acta Neurologica Scandinavica

Year:

2011

Language:

english

File:

PDF, 750 KB

english, 2011

18

IL2RA and IL7RA genes confer susceptibility for multiple sclerosis in two independent European populations

Weber, F, Fontaine, B, Cournu-Rebeix, I, Kroner, A, Knop, M, Lutz, S, Müller-Sarnowski, F, Uhr, M, Bettecken, T, Kohli, M

Journal:

Genes and Immunity

Year:

2008

Language:

english

File:

PDF, 106 KB

english, 2008

19

Proteomic-based genotyping in a mouse model of trait anxiety exposes disease-relevant pathways

Ditzen, C, Varadarajulu, J, Czibere, L, Gonik, M, Targosz, B S, Hambsch, B, Bettecken, T, Keßler, M S, Frank, E, Bunck, M

Journal:

Molecular Psychiatry

Year:

2009

Language:

english

File:

PDF, 238 KB

english, 2009

20

Apoptotic cleavage of DNA in human lymphocyte chromatin shows high sequence specificity

Bettecken, Thomas, Frenkel, Zakharia M., Altmüller, Janine, Nürnberg, Peter, Trifonov, Edward N.

Journal:

Journal of Biomolecular Structure and Dynamics

Year:

2012

Language:

english

File:

PDF, 281 KB

english, 2012

21

Flow cytometric analysis of mouse hepatocyte ploidy

Erhard Severin, Reinhart Willers, Thomas Bettecken

Journal:

Cell and Tissue Research

Year:

1984

Language:

english

File:

PDF, 384 KB

english, 1984

22

A monoclonal antibody which inhibits murine B-cell maturation to antibody-producing cells

A. Schimpl, U. Chen-Bettecken, E. Wecker

Journal:

Cellular Immunology

Year:

1982

Language:

english

File:

PDF, 197 KB

english, 1982

23

Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia

Gerald Stöber, Bernd Kohlmann, Markus Siekiera, Claudia Rubie, Micha Gawlik, Kerstin Möller-Ehrlich, Thomas Meitinger, Thomas Bettecken

Journal:

Year:

2005

Language:

english

File:

PDF, 492 KB

english, 2005

24

The 17p11.2 locus in hereditary neuropathy with liability to pressure palsies, in juvenile and familial carpal tunnel syndrome and in hereditary neuralgic amyotrophy

J. Kownacki, J. V. Fellenberg, K. Rösier, V. Schneider, T. Bettecken, H. Moser, J.-M. Burgunder

Journal:

European Journal of Neurology

Year:

1996

Language:

english

File:

PDF, 569 KB

english, 1996

25

Reduced amplification efficiency of KIAA0027/MLC1 alleles: implications for the molecular diagnosis of megalencephalic leukoencephalopathy with subcortical cysts

T. Bettecken, C. Rubie, P. Lichtner, M. Siekiera, T. Meitinger, G. Stöber

Journal:

Molecular and Cellular Probes

Year:

2002

Language:

english

File:

PDF, 148 KB

english, 2002

26

Mitochondrial 12S rRNA susceptibility mutations in aminoglycoside-associated and idiopathic bilateral vestibulopathy

M. Elstner, C. Schmidt, V.C. Zingler, H. Prokisch, T. Bettecken, J.L. Elson, G. Rudolph, A. Bender, G.M. Halmagyi, T. Brandt, M. Strupp, T. Klopstock

Journal:

Biochemical and Biophysical Research Communications

Year:

2008

Language:

english

File:

PDF, 392 KB

english, 2008

27

A novel deletion in progranulin gene is associated with FTDP-17 and CBS

Luisa Benussi, Giuliano Binetti, Elena Sina, Lara Gigola, Thomas Bettecken, Thomas Meitinger, Roberta Ghidoni

Journal:

Neurobiology of Aging

Year:

2008

Language:

english

File:

PDF, 571 KB

english, 2008

28

Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly

Gunther Rudolph, Petros Kalpadakis, Thomas Bettecken, Peter Lichtner, Christos Haritoglou, Martin Hergersberg, Thomas Meitinger, Heinrich Schmidt

Journal:

American Journal of Ophthalmology

Year:

2003

Language:

english

File:

PDF, 349 KB

english, 2003

29

Conservation of a putative AP1 binding site and complete homology to a fetal brain EST in a region upstream of the core muscle promoter in the human dystrophin gene

T Patarnello, H.J Klamut, G.A Danieli, T Bettecken, C Fracasso

Journal:

Year:

1997

Language:

english

File:

PDF, 288 KB

english, 1997

30

Sequence fossils, triplet expansion, and reconstruction of earliest codons

E.N. Trifonov, T. Bettecken

Journal:

Year:

1997

Language:

english

File:

PDF, 572 KB

english, 1997

31

Duplication of dystrophin exon 18 in a DMD patient with mental retardation

Thomas Bettecken, Sibylle Jakubiczka, Ronald D. Cohn, Arpad von Moers, Astrid Speer, Angela Weber, Thomas Voit, Christoph Hübner

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 259 KB

english, 1997

32

Interphase cell flow cytometry as a means of monitoring genomic size in normal and neoplastoid cell cultures

Holger Hoehn, Haide Koch, Julia Köhler, Thomas Bettecken, Manfred Kubbies, Wilhelm Heckl, Darrell Salk, Peter S. Rabinovitch

Journal:

Cancer Genetics and Cytogenetics

Year:

1987

Language:

english

File:

PDF, 755 KB

english, 1987

33

Heritability of Sleep Electroencephalogram

Urte Ambrosius, Sonja Lietzenmaier, Renate Wehrle, Adam Wichniak, Stefanie Kalus, Juliane Winkelmann, Thomas Bettecken, Florian Holsboer, Alexander Yassouridis, Elisabeth Friess

Journal:

Biological Psychiatry

Year:

2008

Language:

english

File:

PDF, 265 KB

english, 2008

34

Linkage Disequilibrium Patterns and tagSNP Transferability among European Populations

Jakob C. Mueller, Elin Lõhmussaar, Reedik Mägi, Maido Remm, Thomas Bettecken, Peter Lichtner, Saskia Biskup, Thomas Illig, Arne Pfeufer, Jan Luedemann, Stefan Schreiber, Peter Pramstaller, Irene Pichl

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 6.36 MB

english, 2005

35

The endocrine stress response is linked to one specific locus on chromosome 3 in a mouse model based on extremes in trait anxiety

Gonik, Mariya, Frank, Elisabeth, Keßler, Melanie S, Czamara, Darina, Bunck, Mirjam, Yen, Yi-Chun, Pütz, Benno, Holsboer, Florian, Bettecken, Thomas, Landgraf, Rainer, Müller-Myhsok, Bertram, Touma, Ch

Journal:

Year:

2012

Language:

english

File:

PDF, 559 KB

english, 2012

36

Single-nucleotide polymorphisms in HLA- and non-HLA genes associated with the development of antibodies to interferon-β therapy in multiple sclerosis patients

Weber, F, Cepok, S, Wolf, C, Berthele, A, Uhr, M, Bettecken, Th, Buck, D, Hartung, H P, Holsboer, F, Müller-Myhsok, B, Hemmer, B

Journal:

The Pharmacogenomics Journal

Year:

2012

Language:

english

File:

PDF, 410 KB

english, 2012

37

P4-149 Identification of genetic loci associated with familial frontotemporal dementia

Benussi, Luisa, Signorini, Simona, Ghidoni, Roberta, Alberici, Antonella, Barbiero, Laura, Feudatari, Enrica, Gigola, Lara, Nicosia, Francesca, Paterlini, Anna, Strom, Tim, Bettecken, Thomas, Meitinge

Journal:

Neurobiology of Aging

Year:

2004

Language:

english

File:

PDF, 325 KB

english, 2004

38

Compositional mapping of the human dystrophin-encoding gene

Bettecken, Thomas, Aissani, Brahim, Müller, Clemens R., Bernardi, Giorgio

Journal:

Year:

1992

Language:

english

File:

PDF, 1.24 MB

english, 1992

39

Identification of a 220-kb insertion into the Duchenne gene in a family with an atypical course of muscular dystrophy

Bettecken, Th., Müller, C.R.

Journal:

Year:

1989

Language:

english

File:

PDF, 1.09 MB

english, 1989

40

The dystrophin gene is autosomally located on a microchromosome in chicken

Dominguez-Steglich, Marina, Meng, Gerhard, Bettecken, Thomas, Müller, Clemens R., Schmid, Michael

Journal:

Year:

1990

Language:

english

File:

PDF, 1.74 MB

english, 1990

41

Transcriptional control of μ- and и-Gene expression in resting and bacterial lipopolysaccharide-activated normal B cells

Chen-Bettecken, U., Wecker, E., Schimpl, A.

Journal:

Year:

1987

Language:

english

File:

PDF, 1.26 MB

english, 1987

42

IgM RNA Switch from Membrane to Secretory form is Prevented by Adding Antireceptor Antibody to Bacterial Lipopolysaccharide-Stimulated Murine Primary B-Cell Cultures

Una Chen-Bettecken, Eberhard Wecker and Anneliese Schimpl

Journal:

Proceedings of the National Academy of Sciences

Year:

1985

Language:

english

File:

PDF, 1.63 MB

english, 1985

43

Next Generation Sequencing in der diagnostischen Praxis

Bettecken, T., Pfeufer, A., Sudbrak, R., Siddiqui, R., Franke, A., Wienker, T.F., Krawczak, M.

Journal:

medizinische genetik

Year:

2014

Language:

german

File:

PDF, 432 KB

german, 2014

44

Buchbesprechungen Heft 1/2014

Bettecken, T., Pfeufer, A., Sudbrak, R., Siddiqui, R., Franke, A., Wienker, T.F., Krawczak, M.

Journal:

medizinische genetik

Year:

2014

Language:

german

File:

PDF, 284 KB

german, 2014

45

Noninteger pitch and nuclease sensitivity of chromatin DNA

Trifonov, Edward N., Bettecken, Thomas

Journal:

Year:

1979

Language:

english

File:

PDF, 381 KB

english, 1979

46

On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis.

Grimm, T, Meng, G, Liechti-Gallati, S, Bettecken, T, Muller, C R, Muller, B

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 719 KB

english, 1994

47

A Candidate Gene Association Study IdentifiesDAPL1as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD)

Grassmann, Felix, Friedrich, Ulrike, Fauser, Sascha, Schick, Tina, Milenkovic, Andrea, Schulz, Heidi L., von Strachwitz, Claudia N., Bettecken, Thomas, Lichtner, Peter, Meitinger, Thomas, Arend, Nicol

Journal:

NeuroMolecular Medicine

Year:

2015

Language:

english

File:

PDF, 783 KB

english, 2015

48

A Genomewide Association Study Points to Multiple Loci That Predict Antidepressant Drug Treatment Outcome in Depression

Ising, Marcus, Lucae, Susanne, Binder, Elisabeth B., Bettecken, Thomas, Uhr, Manfred, Ripke, Stephan, Kohli, Martin A., Hennings, Johannes M., Horstmann, Sonja, Kloiber, Stefan, Menke, Andreas, Bondy,

Journal:

Archives of General Psychiatry

Year:

2009

Language:

english

File:

PDF, 238 KB

english, 2009

49

Prevalence, Spectrum, and Functional Characterization of Melanocortin-4 Receptor Gene Mutations in a Representative Population-Based Sample and Obese Adults from Germany

Hinney, Anke, Bettecken, Thomas, Tarnow, Patrick, Brumm, Harald, Reichwald, Kathrin, Lichtner, Peter, Scherag, André, Nguyen, Thuy Trang, Schlumberger, Pia, Rief, Winfried, Vollmert, Caren, Illig, Tho

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2006

Language:

english

File:

PDF, 144 KB

english, 2006

50

Variants within the GABA transaminase (ABAT) gene region are associated with somatosensory evoked EEG potentials in families at high risk for affective disorders

Wegerer, M., Adena, S., Pfennig, A., Czamara, D., Sailer, U., Bettecken, T., Müller-Myhsok, B., Modell, S., Ising, M.

Journal:

Psychological Medicine

Year:

2013

Language:

english

File:

PDF, 178 KB

english, 2013