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1

Detailed analysis of five mutations in dihydropyrimidine dehydrogenase detected in cancer patients with 5-fluorouracil-related side effects

Eva Gross, Tobias Ullrich, Katharina Seck, Volkmar Mueller, Maike de Wit, Christoph von Schilling, Alfons Meindl, Manfred Schmitt, Marion Kiechle

Journal:

Year:

2003

Language:

english

File:

PDF, 87 KB

english, 2003

2

Comparison of gene expression data from human and mouse breast cancers: Identification of a conserved breast tumor gene set

Andreas Klein, Ralf Wessel, Monika Graessmann, Martin Jürgens, Iver Petersen, Rita Schmutzler, Dieter Niederacher, Norbert Arnold, Alfons Meindl, Siegfried Scherneck, Susanne Seitz, Adolf Graessmann

Journal:

International Journal of Cancer

Year:

2007

Language:

english

File:

PDF, 319 KB

english, 2007

3

10.1038/9415

Meindl, Alfons, Strom, Tim M., Nyakatura, Gerald, Apfelstedt-Sylla, Eckart, Hellebrand, Heide, Lorenz, Birgit, Weber, Bernhard H. F., Wutz, Krisztina, Gutwillinger, Nadja, Rüther, Klaus, Drescher, Ber

Journal:

Nature Medicine

Year:

1999

Language:

english

File:

PDF, 32 KB

english, 1999

4

Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure

Meitinger, Thomas, Meindl, Alfons, Bork, Peer, Rost, Burkhart, Sander, Chris, Haasemann, Martina, Murken, Jan

Journal:

Nature Genetics

Year:

1993

File:

PDF, 676 KB

1993

5

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

Schiaffino, M.Vittoria, Bassi, Maria T., Galli, Lucia, Renieri, Alessandra, Bruttini, Mirella, Nigris, Filomena De, Bergen, Arthur A.B., Charles, Stephen J., Yates, John R.W., Meindl, Alfons, Lewis, R

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.94 MB

english, 1995

6

A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males

Volker O. Melichar, Sabine Guth, Heide Hellebrand, Alfons Meindl, Katharina von der Hardt, Cornelia Kraus, Udo Trautmann, Wolfgang Rascher, Anita Rauch, Martin Zenker

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 193 KB

english, 2007

7

A novel gene, tendin, is strongly expressed in tendons and ligaments and shows high homology with chondromodulin-I

Oliver Brandau, Alfons Meindl, Reinhard Fässler, Attila Aszódi

Journal:

Developmental Dynamics

Year:

2001

Language:

english

File:

PDF, 1.32 MB

english, 2001

8

The Vϰ gene repertoire in the human germ line

Alfons Meindl, H.-Gustav Klobeck, Rita Ohnheiser, Hans G. Zachau

Journal:

European Journal of Immunology

Year:

1990

Language:

english

File:

PDF, 983 KB

english, 1990

9

The human immunoglobulin x locus. Characterization of the duplicated O regions

Walter Pargent, Alfons Meindl, Rainer Thiebe, Sabine Mitzel, Hans G. Zachau

Journal:

European Journal of Immunology

Year:

1991

Language:

english

File:

PDF, 822 KB

english, 1991

10

The human immunoglobulin x locus. Characterization of the duplicated A regions

Andrea Lautner-Rieske, Christian Huber, Alfons Meindl, Walter Pargent, Karlheinz F. Schäble, Rainer Thiebe, Ines Zocher, Hans G. Zachau

Journal:

European Journal of Immunology

Year:

1992

Language:

english

File:

PDF, 743 KB

english, 1992

11

The Vχ genes of the L regions and the repertoire of Vχ gene sequences in the human germ line

Christian Huber, Karlheinz F. Schäble, Erwin Huber, Ralph Klein, Alfons Meindl, Rainer Thiebe, Rosemarie Lamm, Hans G. Zachau

Journal:

European Journal of Immunology

Year:

1993

Language:

english

File:

PDF, 896 KB

english, 1993

12

Genetic background of different cancer cell lines influences the gene set involved in chromosome 8 mediated breast tumor suppression

Susanne Seitz, Eberhard Korsching, Jörg Weimer, Anja Jacobsen, Norbert Arnold, Alfons Meindl, Wolfgang Arnold, Dirk Gustavus, Christiane Klebig, Iver Petersen, Siegfried Scherneck

Journal:

Genes, Chromosomes and Cancer

Year:

2006

Language:

english

File:

PDF, 1.98 MB

english, 2006

13

Allelic loss analysis by denaturing high-performance liquid chromatography and electrospray ionization mass spectrometry

Eva Gross, Georg Hölzl, Norbert Arnold, Evelyn Hauenstein, Anja Jacobsen, Kathrin Schulze, Juliane Ramser, Alfons Meindl, Marion Kiechle, Peter J. Oefner

Journal:

Year:

2007

Language:

english

File:

PDF, 312 KB

english, 2007

14

MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases

Stefanie Engert, Barbara Wappenschmidt, Beate Betz, Karin Kast, Michael Kutsche, Heide Hellebrand, Timm O. Goecke, Marion Kiechle, Dieter Niederacher, Rita K. Schmutzler, Alfons Meindl

Journal:

Year:

2008

Language:

english

File:

PDF, 479 KB

english, 2008

15

Mutations in the CACNA1F and NYX genes in British CSNBX families

Ilaria Zito, Louise E. Allen, Reshma J. Patel, Alfons Meindl, Keith Bradshaw, John R. Yates, Alan C. Bird, Lynda Erskine, Michael E. Cheetham, Andrew R. Webster, Subathra Poopalasundaram, Anthony T. M

Journal:

Year:

2003

Language:

english

File:

PDF, 53 KB

english, 2003

16

Association of the ARLTS1 Cys148Arg variant with familial breast cancer risk

Bernd Frank, Kari Hemminki, Alfons Meindl, Barbara Wappenschmidt, Rüdiger Klaes, Rita K. Schmutzler, Michael Untch, Peter Bugert, Claus R. Bartram, Barbara Burwinkel

Journal:

International Journal of Cancer

Year:

2006

Language:

english

File:

PDF, 76 KB

english, 2006

17

Variable number of tandem repeats polymorphism in the SMYD3 promoter region and the risk of familial breast cancer

Bernd Frank, Kari Hemminki, Barbara Wappenschmidt, Rüdiger Klaes, Alfons Meindl, Rita K. Schmutzler, Peter Bugert, Michael Untch, Claus R. Bartram, Barbara Burwinkel

Journal:

International Journal of Cancer

Year:

2006

Language:

english

File:

PDF, 54 KB

english, 2006

18

Association of death receptor 4 variant (683A>C) with ovarian cancer risk in BRCA1 mutation carriers

Michelle G. Dick, Beatrix Versmold, Christoph Engel, Alfons Meindl, Norbert Arnold, Raymonda Varon-Mateeva, Christian Sutter, Dieter Niederacher, Helmut Deissler, Sabine Preisler-Adams, Karin Kast, Di

Journal:

International Journal of Cancer

Year:

2012

Language:

english

File:

PDF, 134 KB

english, 2012

19

A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding

Sabine Weidensee, Peter Goettig, Marko Bertone, Dorothea Haas, Viktor Magdolen, Marion Kiechle, Alfons Meindl, André B.P. van Kuilenburg, Eva Gross

Journal:

Clinical Biochemistry

Year:

2011

Language:

english

File:

PDF, 274 KB

english, 2011

20

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

21

HUGO meeting in Toronto, March 1997 Calm before the storm

Journal:

Journal of Molecular Medicine

Year:

1997

Language:

english

File:

PDF, 53 KB

english, 1997

22

Validation of mRNA/EST-based gene predictions in human Xp11.4 revealed differences to the organization of the orthologous mouse locus

Gaiping Wen, Juliane Ramser, Stefan Taudien, Ulrike Gausmann, Karin Blechschmidt, Adam Frankish, Jennifer Ashurst, Alfons Meindl, Matthias Platzer

Journal:

Mammalian Genome

Year:

2005

Language:

english

File:

PDF, 197 KB

english, 2005

23

X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1.

Günther Rudolph, Alfons Meindl, Martin Bechmann, Hermann-Dieter Schworm, Helene Achatz, Klaus-Peter Boergen, Anselm Kampik, Thomas Berninger, Thomas Meitinger

Journal:

Graefe's Archive for Clinical and Experimental Ophthalmology

Year:

2001

Language:

english

File:

PDF, 190 KB

english, 2001

24

Simultaneous manifestation of fulminant infectious mononucleosis with haemophagocytic syndrome and B-cell lymphoma in X-linked lymphoproliferative disease

Boris Hügle, Itziar Astigarraga, Jan-Inge Henter, Anna Porwit-MacDonald, Alfons Meindl, Volker Schuster

Journal:

European Journal of Pediatrics

Year:

2007

Language:

english

File:

PDF, 179 KB

english, 2007

25

Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1

Felix K. Jacobi, Martina Broghammer, Katrin Pesch, Eberhart Zrenner, Wolfgang Berger, Alfons Meindl, Carsten M. Pusch

Journal:

Year:

2000

Language:

english

File:

PDF, 29 KB

english, 2000

26

Genetic variation in the major mitotic checkpoint genes does not affect familial breast cancer risk

Annika Vaclavicek, Justo Lorenzo Bermejo, Barbara Wappenschmidt, Alfons Meindl, Christian Sutter, Rita K. Schmutzler, Marion Kiechle, Peter Bugert, Barbara Burwinkel, Claus R. Bartram, Kari Hemminki,

Journal:

Breast Cancer Research and Treatment

Year:

2007

Language:

english

File:

PDF, 173 KB

english, 2007

27

Polymorphisms inBRCA2resulting in aberrant codon-usage and their analysis on familial breast cancer risk

Rongxi Yang, Bowang Chen, Kari Hemminki, Barbara Wappenschmidt, Christoph Engel, Christian Sutter, Nina Ditsch, Bernhard H. F. Weber, Dieter Niederacher, Norbert Arnold, Alfons Meindl, Claus R. Bartra

Journal:

Breast Cancer Research and Treatment

Year:

2009

Language:

english

File:

PDF, 202 KB

english, 2009

28

A variant affecting miRNAs binding in the circadian gene Neuronal PAS domain protein 2 (NPAS2) is not associated with breast cancer risk

Furu Wang, Zhibin Hu, Rongxi Yang, Jinhai Tang, Yao Liu, Kari Hemminki, Christian Sutter, Barbara Wappenschmidt, Dieter Niederacher, Norbert Arnold, Alfons Meindl, Claus R. Bartram, Rita K. Schmutzler

Journal:

Breast Cancer Research and Treatment

Year:

2011

Language:

english

File:

PDF, 228 KB

english, 2011

29

10.1038/10350

Derry, Jonathan M.J., Gormally, Emmanuelle, Means, Gary D., Zhao, Wei, Meindl, Alfons, Kelley, Richard I., Boyd, Yvonne, Herman, Gail E.

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 410 KB

english, 1999

30

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

Muscatelli, Françoise, Strom, Tim M., Walker, Ann P., Zanaria, Elena, Récan, Dominique, Meindl, Alfons, Bardoni, Barbara, Guioli, Silvana, Zehetner, Günther, Rabl, Wolfgang

Journal:

Year:

1994

File:

PDF, 467 KB

1994

31

10.1038/78182

Wright, Alan F., Vervoort, Raf, Lennon, Alan, Bird, Alan C., Tulloch, Brian, Axton, Richard, Miano, Maria G., Meindl, Alfons, Meitinger, Thomas, Ciccodicola, Alfredo

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 1.62 MB

english, 2000

32

10.1038/81627

Meindl, Alfons, Pusch, Carsten M., Zeitz, Christina, Brandau, Oliver, Pesch, Katrin, Achatz, Helene, Feil, Silke, Scharfe, Curt, Maurer, Johannes, Jacobi, Felix K., Pinckers, Alfred, Andreasson, Sten,

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 504 KB

english, 2000

33

10.1038/940

Meindl, Alfons, Strom, Tim M., Nyakatura, Gerald, Apfelstedt-Sylla, Eckart, Hellebrand, Heide, Lorenz, Birgit, Weber, Bernhard H. F., Wutz, Krisztina, Gutwillinger, Nadja, Rüther, Klaus, Drescher, Ber

Journal:

Nature Genetics

Year:

1998

Language:

english

File:

PDF, 455 KB

english, 1998

34

Breast cancer susceptibility: current knowledge and implications for genetic counselling

Schlegelberger, Brigitte, Ripperger, Tim, Gadzicki, Dorothea, Meindl, Alfons

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 217 KB

english, 2008

35

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

Schaal, Heiner, Meindl, Alfons, Hellebrand, Heide, Wiek, Constanze, Erven, Verena, Wappenschmidt, Barbara, Niederacher, Dieter, Freund, Marcel, Lichtner, Peter, Hartmann, Linda

Journal:

Nature Genetics

Year:

2010

Language:

english

File:

PDF, 646 KB

english, 2010

36

Norrie disease is caused by mutations in an extracellular protein resembling C–terminal globular domain of mucins

Meindl, Alfons, Berger, Wolfgang, Meitinger, Thomas, van de Pol, Dorien, Achatz, Helene, Dörner, Christa, Haasemann, Martina, Hellebrand, Heide, Gal, Andreas, Cremers, Frans

Journal:

Nature Genetics

Year:

1992

File:

PDF, 643 KB

1992

37

UHX1 and PCTK1: precise characterisation and localisation within a gene-rich region in Xp11.23 and evaluation as candidate genes for retinal diseases mapped to Xp21.1–p11.2

Brandau, Oliver, Nyakatura, Gerald, Jedele, Kerry B, Platzer, Matthias, Achatz, Helene, Ross, Mark, Murken, Jan, Rosenthal, Andre, Meindl, Alfons

Journal:

European Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 369 KB

english, 1998

38

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation

Martínez-Garay, Isabel, Tomás, Miguel, Oltra, Silvestre, Ramser, Juliane, Moltó, Maria D, Prieto, Félix, Meindl, Alfons, Kutsche, Kerstin, Martínez, Francisco

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 162 KB

english, 2006

39

The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25

Ladanyi, Marc, Lui, Man Yee, Antonescu, Cristina R, Krause-Boehm, Amber, Meindl, Alfons, Argani, Pedram, Healey, John H, Ueda, Takafumi, Yoshikawa, Hideki, Meloni-Ehrig, Aurelia

Journal:

Year:

2001

Language:

english

File:

PDF, 369 KB

english, 2001

40

Frequency of BRCA1 Mutation 5382insC in German Breast Cancer Patients

Jael Backe, Sigrun Hofferbert, Britta Skawran, Thilo Dörk, Manfred Stuhrmann, Johann H. Karstens, Michael Untch, Alfons Meindl, Renate Burgemeister, Jenny Chang-Claude, Bernhard H.F. Weber

Journal:

Gynecologic Oncology

Year:

1999

Language:

english

File:

PDF, 56 KB

english, 1999

41

Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in theNYXgene

Felix K. Jacobi, Sten Andréasson, Hana Langrova, Alfons Meindl, Eberhart Zrenner, Eckart Apfelstedt-Sylla, Carsten M. Pusch

Journal:

Graefe's Archive for Clinical and Experimental Ophthalmology

Year:

2002

Language:

english

File:

PDF, 200 KB

english, 2002

42

Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Antonis C. Antoniou, Amanda B. Spurdle, Olga M. Sinilnikova, Sue Healey, Karen A. Pooley, Rita K. Schmutzler, Beatrix Versmold, Christoph Engel, Alfons Meindl, Norbert Arnold, Wera Hofmann, Christian

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 420 KB

english, 2008

43

Transcription factor 7-like 2 (TCF7L2) variant is associated with familial breast cancer risk: a case-control study

Barbara Burwinkel, Kalai S Shanmugam, Kari Hemminki, Alfons Meindl, Rita K Schmutzler, Christian Sutter, Barbara Wappenschmidt, Marion Kiechle, Claus R Bartram, Bernd Frank

Journal:

Year:

2006

Language:

english

File:

PDF, 235 KB

english, 2006

44

BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study

Bernd Frank, Kari Hemminki, Alfons Meindl, Barbara Wappenschmidt, Christian Sutter, Marion Kiechle, Peter Bugert, Rita K Schmutzler, Claus R Bartram, Barbara Burwinkel

Journal:

Year:

2007

Language:

english

File:

PDF, 231 KB

english, 2007

45

Non-radioactive Labeling and Detection of Nucleic Acids. III Applications of the Digoxigenin System

SEIBL, Rudolf, HÖLTKE, Hans-Joachim, RÜGER, Rüdiger, MEINDL, Alfons, ZACHAU, Hans G., RAßHOFER, Rudolf, ROGGENDORF, Michael, WOLF, Hans, ARNOLD, Norbert, WIENBERG, Johannes

Journal:

Biological Chemistry Hoppe-Seyler

Year:

1990

Language:

english

File:

PDF, 2.21 MB

english, 1990

46

An Integrated, Functionally Annotated Gene Map of the DXS8026–ELK1 Interval on Human Xp11.3–Xp11.23: Potential Hotspot for Neurogenetic Disorders

Dawn L. Thiselton, Jennifer McDowall, Oliver Brandau, Juliane Ramser, Fabiana d'Esposito, Shomi S. Bhattacharya, Mark T. Ross, Alison J. Hardcastle, Alfons Meindl

Journal:

Year:

2002

Language:

english

File:

PDF, 257 KB

english, 2002

47

An Integrated, Functionally Annotated Gene Map of the DXS8026–ELK1 Interval on Human Xp11.3–Xp11.23: Potential Hotspot for Neurogenetic Disorders

Dawn L. Thiselton, Jennifer McDowall, Oliver Brandau, Juliane Ramser, Fabiana d'Esposito, Shomi S. Bhattacharya, Mark T. Ross, Alison J. Hardcastle, Alfons Meindl

Journal:

Year:

2002

Language:

english

File:

PDF, 39 KB

english, 2002

48

Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy

Juliane Ramser, Mary Ellen Ahearn, Claus Lenski, Kemal O. Yariz, Heide Hellebrand, Michael von Rhein, Robin D. Clark, Rita K. Schmutzler, Peter Lichtner, Eric P. Hoffman, Alfons Meindl, Lisa Baumbach-

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 612 KB

english, 2008

49

Aurora kinases A and B and familial breast cancer risk

Sandrine Tchatchou, Michael Wirtenberger, Kari Hemminki, Christian Sutter, Alfons Meindl, Barbara Wappenschmidt, Marion Kiechle, Peter Bugert, Rita K. Schmutzler, Claus R. Bartram, Barbara Burwinkel

Journal:

Year:

2007

Language:

english

File:

PDF, 134 KB

english, 2007

50

Identification of brain- and bone-specific breast cancer metastasis genes

Andreas Klein, Christian Olendrowitz, Rita Schmutzler, Juergen Hampl, Peter M. Schlag, Nicolai Maass, Norbert Arnold, Ralf Wessel, Juliane Ramser, Alfons Meindl, Siegfried Scherneck, Susanne Seitz

Journal:

Year:

2009

Language:

english

File:

PDF, 780 KB

english, 2009