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1

Emerging evidence for gene mutations driving both brain and gut dysfunction in autism spectrum disorder

Niesler, Beate, Rappold, Gudrun A.

Journal:

Molecular Psychiatry

Year:

2020

File:

PDF, 297 KB

2020

2

SHOX at a glance: from gene to protein

Marchini, Antonio, Rappold, Gudrun, Schneider, Katja U.

Journal:

Archives of Physiology and Biochemistry

Year:

2007

Language:

english

File:

PDF, 609 KB

english, 2007

3

Comparative expression profiling in the intestine of patients with Giardia âinduced postinfectious functional gastrointestinal disorders

MartÃnez, Cristina, Lasitschka, Felix, ThÃ¶ni, Cornelia, Wohlfarth, Carolin, Braun, Alexander, Granzow, Martin, RÃ¶th, Ralph, Dizdar, Vernesa, Rappold, Gudrun A., Hausken, Trygve, Langeland, Nina, Ha

Journal:

Neurogastroenterology & Motility

Year:

2020

File:

PDF, 1.48 MB

2020

4

Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: Implication for the MRX locus

Muroya, Koji, Ogata, Tsutomu, Matsuo, Nobutake, Nagai, Toshiro, Franco, Brunella, Ballabio, Andrea, Rappold, Gudrun, Sakura, Nobiro, Fukushima, Yoshimitsu

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 527 KB

english, 1996

5

L�ri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3

Spranger, Stephanie, Schiller, Simone, Jauch, Anna, Wolff, Kathrin, Rauterberg-Ruland, Inge, Hager, Dieter, Tariverdian, Gholamali, Tr�ger, Jochen, Rappold, Gudrun

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 249 KB

english, 1999

6

Mosaic rearrangement of chromosome 18: Characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin

Oner, Guner, Jauch, Anna, Eggermann, Thomas, Hardwick, R., Kirsch, Stefan, Schiebel, Katrin, Rappold, Gudrun, Robson, Lisa, Smith, Arabella

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 946 KB

english, 2000

7

Structural analysis of a rare rearranged Y chromosome and its bearing on genotype-phenotype correlation

Ogata, Tsutomu, Wakui, Keiko, Kosho, Tomoki, Muroya, Koji, Yamanouchi, Yasuko, Takano, Takako, Fukushima, Yoshimitsu, Rappold, Gudrun, Suzuki, Yoshimi

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 1006 KB

english, 2000

8

Cytogenetic and molecular characterization of two isodicentric Y chromosomes

Paweł Stankiewicz, Zofia Hélias-Rodzewicz, Krystyna Jakubów-Durska, Ewa Bocian, Ewa Obersztyn, Gudrun A. Rappold, Tadeusz Mazurczak

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 258 KB

english, 2001

9

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus

Paweł Stankiewicz, Hannelore Thiele, Christiane Baldermann, Antje Krüger, Ioannis Giannakudis, Sylvia Dörr, Nadeshda Werner, Jürgen Kunz, Gudrun A. Rappold, Ingo Hansmann

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 249 KB

english, 2001

10

Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia

Volker Endris, Karl Hackmann, Teresa M. Neuhann, Ute Grasshoff, Michael Bonin, Ulrich Haug, Gabriele Hahn, Jens C. Schallner, Evelin Schröck, Sigrid Tinschert, Gudrun Rappold, Ute Moog

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 102 KB

english, 2010

11

Investigation of the human serotonin receptor gene HTR3B in bipolar affective and schizophrenic patients

Bernd Frank, Beate Niesler, Markus M. Nöthen, Helge Neidt, Peter Propping, Brigitta Bondy, Marcella Rietschel, Wolfgang Maier, Margot Albus, Gudrun Rappold

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2004

Language:

english

File:

PDF, 105 KB

english, 2004

12

Dynamic expression of the Slit-Robo GTPase activating protein genes during development of the murine nervous system

Claire Bacon, Volker Endris, Gudrun Rappold

Journal:

The Journal of Comparative Neurology

Year:

2009

Language:

english

File:

PDF, 3.78 MB

english, 2009

13

Serotonin receptor diversity in the human colon: Expression of serotonin type 3 receptor subunits 5-HT3C, 5-HT3D, and 5-HT3E

Johannes Kapeller, Dorothee Möller, Felix Lasitschka, Frank Autschbach, Ruud Hovius, Gudrun Rappold, Michael Brüss, Michael D. Gershon, Beate Niesler

Journal:

The Journal of Comparative Neurology

Year:

2011

Language:

english

File:

PDF, 723 KB

english, 2011

14

The human SHOX mutation database

Beate Niesler, Christine Fischer, Gudrun A. Rappold

Journal:

Year:

2002

Language:

english

File:

PDF, 342 KB

english, 2002

15

Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis

Katja U. Schneider, Antonio Marchini, Nitin Sabherwal, Ralph Röth, Beate Niesler, Tiina Marttila, Rüdiger J. Blaschke, Margaret Lawson, Miroslav Dumic, Gudrun Rappold

Journal:

Year:

2005

Language:

english

File:

PDF, 348 KB

english, 2005

16

The novel human SHOX allelic variant database

Beate Niesler, Ralph Röth, Steffi Wilke, Frank Fujimura, Christine Fischer, Gudrun Rappold

Journal:

Year:

2007

Language:

english

File:

PDF, 573 KB

english, 2007

17

Pseudoautosomal linkage of familial hodgkin's lymphoma: molecular analysis of a unique family with leri–weill dyschondrosteosis and hodgkins lymphoma

Deborah J. Shears, Volker Endris, David A. Gokhale, Simon P. Dearden, John A. Radford, Gudrun A. Rappold, G. Malcolm Taylor

Journal:

British Journal of Haematology

Year:

2003

Language:

english

File:

PDF, 240 KB

english, 2003

18

Mutational analysis of thePITX2coding region revealed no common cause for transposition of the great arteries (dTGA)

Nadja Muncke, Beate Niesler, Ralph Roeth, Karin Schön, Heinz-Juergen Rüdiger, Elizabeth Goldmuntz, Judith Goodship, Gudrun Rappold

Journal:

BMC Medical Genetics

Year:

2005

Language:

english

File:

PDF, 692 KB

english, 2005

19

A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval

Albrecht Klink, Alfons Meindl, Heide Hellebrand, Gudrun A. Rappold

Journal:

Year:

1994

Language:

english

File:

PDF, 797 KB

english, 1994

20

The immunoglobulin κ locus: polymorphism and haplotypes of Caucasoid and non-Caucasoid individuals

Gudrun Schaible, Gudrun A. Rappold, Walter Pargent, Hans G. Zachau

Journal:

Year:

1993

File:

PDF, 18 KB

1993

21

The immunoglobulin κ locus: polymorphism and haplotypes of Caucasoid and non-Caucasoid individuals

Gudrun Schaible, Gudrun A. Rappold, Walter Pargent, Hans G. Zachau

Journal:

Year:

1993

Language:

english

File:

PDF, 715 KB

english, 1993

22

Pseudoautosomal repeat displays higher variability in Blacks than in Caucasians

Gudrun A. Rappold, Anja Henke, Marita Pohlschmid, Titus H. J. Huisman

Journal:

Year:

1992

Language:

english

File:

PDF, 905 KB

english, 1992

23

Refinement of the locus for X-linked recessive chondrodysplasia punctata

Koji Muroya, Tsutomu Ogata, Gudrun Rappold, Albrecht Klink, Yutaka Nakahori, Yoshimitsu Fukushima, Katsuya Aizu, Nobutake Matsuo

Journal:

Year:

1995

Language:

english

File:

PDF, 317 KB

english, 1995

24

ANT3 and STS are autosomal in prosimian lemurs: implications for the evolution of the pseudoautosomal region

Roland Toder, Gudrun A. Rappold, Katrin Schiebel, Werner Schempp

Journal:

Year:

1995

Language:

english

File:

PDF, 3.14 MB

english, 1995

25

Chromosome assignment of two cloned DNA probes hybridizing predominantly to human sex chromosomes

Gudrun A. Rappold, T. Cremer, C. Cremer, W. Back, J. Bogenberger, H. J. Cooke

Journal:

Year:

1984

Language:

english

File:

PDF, 545 KB

english, 1984

26

Chromosomal localization of a human myosin heavy-chain gene by in situ hybridization

Gudrun A. Rappold, H.-P. Vosberg

Journal:

Year:

1983

Language:

english

File:

PDF, 554 KB

english, 1983

27

The pseudoautosomal regions of the human sex chromosomes

Gudrun A. Rappold

Journal:

Year:

1993

Language:

english

File:

PDF, 1.31 MB

english, 1993

28

Molecular characterization of a ring X

Jay W. Ellison, Mustafa Tekin, Karen Sikes, Jerry Yankowitz, Larry Shapiro, Gudrun A. Rappold, Kirk E. Neely

Journal:

Year:

2002

Language:

english

File:

PDF, 63 KB

english, 2002

29

Molecular and evolutionary analysis of the growth-controlling region on the human Y chromosome

Stefan Kirsch, Birgit Weiss, Klaus Zumbach, Gudrun Rappold

Journal:

Year:

2004

Language:

english

File:

PDF, 398 KB

english, 2004

30

My last visit with Friedrich Vogel: a personal remembrance

Journal:

Year:

2007

Language:

english

File:

PDF, 138 KB

english, 2007

31

Mutational analysis of serotonin receptor genes:HTR3AandHTR3Bin fibromyalgia patients

Bernd Frank, Beate Niesler, Brigitta Bondy, Michael Späth, Dieter E. Pongratz, Manfred Ackenheil, Christine Fischer, Gudrun Rappold

Journal:

Clinical Rheumatology

Year:

2004

Language:

english

File:

PDF, 231 KB

english, 2004

32

10.1038/1557

Gründemann, Dirk, Schechinger, Birgit, Rappold, Gudrun, Schömig, Edgar

Journal:

Nature Neuroscience

Year:

1998

Language:

english

File:

PDF, 206 KB

english, 1998

33

Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal

Cooke, Howard J., Brown, William R. A., Rappold, Gudrun A.

Journal:

Year:

1985

File:

PDF, 803 KB

1985

34

The human pseudoautosomal regions: a review for genetic epidemiologists

Flaquer, Antonia, Rappold, Gudrun A, Wienker, Thomas F, Fischer, Christine

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 233 KB

english, 2008

35

Enhancer elements upstream of the SHOX gene are active in the developing limb

Durand, Claudia, Bangs, Fiona, Signolet, Jason, Decker, Eva, Tickle, Cheryll, Rappold, Gudrun

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 569 KB

english, 2009

36

A human pseudoautosomal gene, ADP/ATP translocase, escapes X–inactivation whereas a homologue on Xq is subject to X–inactivation

Schiebel, Katrin, Weiss, Birgit, Wöhrle, Doris, Rappold, Gudrun

Journal:

Nature Genetics

Year:

1993

File:

PDF, 762 KB

1993

37

Double–strand breaks on YACs during yeast meiosis may reflect meiotic recombination in the human genome

Klein, Shoshana, Zenvirth, Drora, Sherman, Amir, Ried, Karin, Rappold, Gudrun, Simchen, Giora

Journal:

Nature Genetics

Year:

1996

File:

PDF, 505 KB

1996

38

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly–syndactyly syndrome

Dauwerse, Johannes G, de Vries, Bert B A, Wouters, Cokkie H, Bakker, Egbert, Rappold, Gudrun, Mortier, Geert R, Breuning, Martijn H, Peters, Dorien J M

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 255 KB

english, 2007

39

Direct Evidence for the Homo—Pan Clade

Rainer Wimmer, Stefan Kirsch, Gudrun A. Rappold, Werner Schempp

Journal:

Chromosome Research

Year:

2002

Language:

english

File:

PDF, 1.16 MB

english, 2002

40

High-resolution fluorescence in situ hybridization of human Y-linked genes on released chromatin

Birgitta Gla¨ser, Thomas Hierl, Kay Taylor, Katrin Schiebel, Sylvia Zeitler, Katia Papadopoullos, Gudrun Rappold, Werner Schempp

Journal:

Chromosome Research

Year:

1997

Language:

english

File:

PDF, 265 KB

english, 1997

41

5-HT3 receptors: Role in disease and target of drugs

Jutta Walstab, Gudrun Rappold, Beate Niesler

Journal:

Pharmacology & Therapeutics

Year:

2010

Language:

english

File:

PDF, 812 KB

english, 2010

42

The 3D Positioning of ANT2 and ANT3 Genes within Female X Chromosome Territories Correlates with Gene Activity

Steffen Dietzel, Katrin Schiebel, Graham Little, Peter Edelmann, Gudrun A. Rappold, Roland Eils, Christoph Cremer, Thomas Cremer

Journal:

Experimental Cell Research

Year:

1999

Language:

english

File:

PDF, 451 KB

english, 1999

43

Identification of YAC and Cosmid Clones Encompassing the ZFX-POLA Region Using Irradiation Hybrid Cell Lines

Fiona Francis, Frances Benham, Chee Gee See, Margaret Fox, Yumiko Ishikawa-Brush, Anthony P. Monaco, Birgit Weiss, Gudrun Rappold, Renata M.J. Hamvas, Hans Lehrach

Journal:

Year:

1994

File:

PDF, 685 KB

1994

44

Localization of the Adenine Nucleotide Translocase Gene ANT2 to Chromosome Xq24-q25 with Tight Linkage to DXS425

Katrin Schiebel, Annelyse Mertz, Martina Winkelmann, Ramaiah Nagaraja, Gudrun Rappold

Journal:

Year:

1994

File:

PDF, 124 KB

1994

45

Assignment of a Human Homolog of the Mouse Htr3 Receptor Gene to Chromosome 11q23.1-q23.2

Birgit Weiss, Annelyse Mertz, Evelin Schröck, Michael Koenen, Gudrun Rappold

Journal:

Year:

1995

File:

PDF, 126 KB

1995

46

Characterization of a YAC Contig Spanning the Pseudoautosomal Region

KARIN RIED, ANNELYSE MERTZ, RAMAIAH NAGARAJA, MICHELLE TRUSGNICH, JOHN H. RILEY, RAKESH ANAND, HANS LEHRACH, DAVID PAGE, JAY W. ELLISON, GUDRUN RAPPOLD

Journal:

Year:

1995

Language:

english

File:

PDF, 84 KB

english, 1995

47

A Novel Murine PKA-Related Protein Kinase Involved in Neuronal Differentiation

Rüdiger J. Blaschke, A.Paula Monaghan, Dagmar Bock, Gudrun A. Rappold

Journal:

Year:

2000

Language:

english

File:

PDF, 561 KB

english, 2000

48

Genetic and structural characterization of the human mitochondrial inner membrane translocase

Matthias F. Bauer, Klaus Gempel, Andreas S. Reichert, Gudrun A. Rappold, Peter Lichtner, Klaus-Dieter Gerbitz, Walter Neupert, Michael Brunner, Sabine Hofmann

Journal:

Journal of Molecular Biology

Year:

1999

Language:

english

File:

PDF, 778 KB

english, 1999

49

Organisation of the murine 5-HT3 receptor gene and assignment tohuman chromosome 11

Peter Uetz, Fawzy Abdelatty, Alfredo Villarroel, Gudrun Rappold, Birgit Weiss, Michael Koenen

Journal:

Year:

1994

Language:

english

File:

PDF, 717 KB

english, 1994

50

High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1)

Irène Wang, Brunella Franco, Giovanni B. Ferrero, A.Craig Chinault, Jean Weissenbach, Ilya Chumakov, Denis Le Paslier, Jacqueline Levilliers, Albrecht Klink, Gudrun A. Rappold, Andrea Ballabio, Christ

Journal:

Year:

1995

Language:

english

File:

PDF, 1014 KB

english, 1995