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1

Inhibition of primordial germ cell proliferation by the medaka male determining gene Dmrt1bY

Amaury Herpin, Detlev Schindler, Anita Kraiss, Ute Hornung, Christoph Winkler, Manfred Schartl

Journal:

BMC Developmental Biology

Year:

2007

Language:

english

File:

PDF, 2.81 MB

english, 2007

2

Neuroaxonal dystrophy in infantile α-N-acetylgalactosaminidase deficiency

David E. Wolfe, Detlev Schindler, Robert J. Desnick

Journal:

Journal of the Neurological Sciences

Year:

1995

Language:

english

File:

PDF, 13.00 MB

english, 1995

3

Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure

Bernd Gruhn, Joerg Seidel, Felix Zintl, Raymonda Varon, Holger Tönnies, Heidemarie Neitzel, Astrid Bechtold, Holger Hoehn, Detlev Schindler

Journal:

Orphanet Journal of Rare Diseases

Year:

2007

Language:

english

File:

PDF, 1.29 MB

english, 2007

4

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygousWDR62gene mutation

Farag, Heba, Froehler, Sebastian, Oexle, Konrad, Ravindran, Ethiraj, Schindler, Detlev, Staab, Timo, Huebner, Angela, Kraemer, Nadine, Chen, Wei, Kaindl, Angela M

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 1.34 MB

english, 2013

5

Neuroaxonal Dystrophy Due to Lysosomal α-N-Acetylgalactosaminidase Deficiency

Schindler, Detlev, Bishop, David F., Wolfe, David E., Wang, Anne M., Egge, Heinz, Lemieux, Ray U., Desnick, Robert J.

Journal:

Boston Medical and Surgical Journal

Year:

1989

Language:

english

File:

PDF, 5.07 MB

english, 1989

6

Mutational Spectrum of Fanconi Anemia Associated Myeloid Neoplasms

Chao, Mwe, Thomay, Kathrin, Goehring, Gudrun, Wlodarski, Marcin, Pastor, Victor, Schlegelberger, Brigitte, Schindler, Detlev, Kratz, Christian, Niemeyer, Charlotte

Journal:

Klinische Pädiatrie

Year:

2017

Language:

english

File:

PDF, 250 KB

english, 2017

7

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation

Ravindran, Ethiraj, Hu, Hao, Yuzwa, Scott A., Hernandez-Miranda, Luis R., Kraemer, Nadine, Ninnemann, Olaf, Musante, Luciana, Boltshauser, Eugen, Schindler, Detlev, Hübner, Angela, Reinecker, Hans-Chr

Journal:

Year:

2017

Language:

english

File:

PDF, 26.68 MB

english, 2017

8

RFWD3-Mediated Ubiquitination Promotes Timely Removal of Both RPA and RAD51 from DNA Damage Sites to Facilitate Homologous Recombination

Inano, Shojiro, Sato, Koichi, Katsuki, Yoko, Kobayashi, Wataru, Tanaka, Hiroki, Nakajima, Kazuhiro, Nakada, Shinichiro, Miyoshi, Hiroyuki, Knies, Kerstin, Takaori-Kondo, Akifumi, Schindler, Detlev, Is

Journal:

Year:

2020

File:

PDF, 223 KB

2020

9

Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals

Stefan Ries, Christa Büchler, Gisela Schindler, Charalampos Aslanidis, Detlev Ameis, Christoph Gasche, Nikola Jung, Axel Schambach, Petra Fehringer, Marie T. Vanier, Dominique C. Belli, Heiner Greten,

Journal:

Year:

1998

Language:

english

File:

PDF, 344 KB

english, 1998

10

Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child

Gotthold Barbi, Jacques M. J. C. Scheres, Detlev Schindler, Rob D. F. M. Taalman, Klaus Rodens, Karl Mehnert, Max Müller, Helga Seyschab

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 706 KB

english, 1991

11

Bromodeoxyuridine amplifies the inhibitory effect of oxygen on cell proliferation

Martin Poot, Detlev Schindler, Manfred Kubbies, Holger Hoehn, Peter S. Rabinovitch

Journal:

Cytometry Part A

Year:

1988

Language:

english

File:

PDF, 542 KB

english, 1988

12

Continuous bromodeoxyuridine labeling and bivariate ethidium bromide/hoechst flow cytometry in cell kinetics

Martin Poot, Heidi Schmitt, Helga Seyschab, Julia Koehler, Una Chen, U. Kaempf, Manfred Kubbies, Detlev Schindler, Peter S. Rabinovitch, Holger Hoehn

Journal:

Cytometry Part A

Year:

1989

Language:

english

File:

PDF, 427 KB

english, 1989

13

The effects of bacterial lipopolysaccharide, anti-receptor antibodies and recombinant interferon on mouse B cell cycle progression using 5-bromo-2'-deoxyuridine/hoechst 33258 dye flow cytometry

Helga Seyschab, Richard Friedl, Detlev Schindler, Holger Hoehn, Peter S. Rabinovitch, Una Chen

Journal:

European Journal of Immunology

Year:

1989

Language:

english

File:

PDF, 698 KB

english, 1989

14

Radiation-induced DNA damage and repair in peripheral blood mononuclear cells from Nijmegen breakage syndrome patients and carriers assessed by the Comet assay

Susann Bürger, Detlev Schindler, Martin Fehn, Bettina Mühl, Hartmut Mahrhofer, Michael Flentje, Holger Hoehn, Eva Seemanová, Cholpon S. Djuzenova

Journal:

Environmental and Molecular Mutagenesis

Year:

2006

Language:

english

File:

PDF, 355 KB

english, 2006

15

Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype

Véronique Dutrannoy, Ilja Demuth, Ulrich Baumann, Detlev Schindler, Kateryna Konrat, Heidemarie Neitzel, Gabriele Gillessen-Kaesbach, Janina Radszewski, Susanne Rothe, Mario T. Schellenberger, Gudrun

Journal:

Year:

2010

Language:

english

File:

PDF, 463 KB

english, 2010

16

The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype

Marc Trimborn, Reyk Richter, Nadine Sternberg, Ioannis Gavvovidis, Detlev Schindler, Andrew P. Jackson, Eva-Christina Prott, Karl Sperling, Gabriele Gillessen-Kaesbach, Heidemarie Neitzel

Journal:

Year:

2005

Language:

english

File:

PDF, 108 KB

english, 2005

17

Electron impact and multiphoton ionization and fragmentation of dicarbonyl cyclopentadienyl methyl iron and pentamethylcyclopentadienyl dicarbonyl methyl iron

Detlev Bruch, Günther von Bünau, Wolfram Schindler, Horst Kisch

Journal:

International Journal of Mass Spectrometry and Ion Processes

Year:

1995

Language:

english

File:

PDF, 912 KB

english, 1995

18

Sequence-analysis of the ATM-gene in twenty patients with RTOG grade 3 or 4 severe acute and/or late tissue radiation side effects

Oppitz Ulrich, Bernthaler Ulrike, Schindler Detlev, Höhn Holger, Platzer Matthias, Rosenthal Andre, Flentje Michael

Journal:

International Journal of Radiation Oncology*Biology*Physics

Year:

1998

Language:

english

File:

PDF, 107 KB

english, 1998

19

Sequence analysis of the ATM gene in 20 patients with RTOG grade 3 or 4 acute and/or late tissue radiation side effects

Ulrich Oppitz, Ulrike Bernthaler, Detlev Schindler, Alexandra Sobeck, Holger Hoehn, Matthias Platzer, André Rosenthal, Michael Flentje

Journal:

International Journal of Radiation Oncology*Biology*Physics

Year:

1999

Language:

english

File:

PDF, 229 KB

english, 1999

20

Cell-surface expression of transrearranged Vγ–Cβ T-cell receptor chains in healthy donors and in ataxia telangiectasia patients

Thomas Hinz, Atef Allam, Daniela Wesch, Detlev Schindler, Dieter Kabelitz

Journal:

British Journal of Haematology

Year:

2000

Language:

english

File:

PDF, 436 KB

english, 2000

21

G2 phase cell cycle disturbance as a manifestation of genetic cell damage

Helga Seyschab, Yujie Sun, Richard Friedl, Detlev Schindler, Holger Hoehn

Journal:

Year:

1993

Language:

english

File:

PDF, 772 KB

english, 1993

22

A strategy for the characterization of minute chromosome rearrangements using multiple color fluorescence in situ hybridization with chromosome-specific DNA libraries and YAC clones

Susanne Popp, Anna Jauch, Detlev Schindler, Michael R. Speicher, Christoph Lengauer, Helen Donis-Keller, Harold C. Riethman, Thomas Cremer

Journal:

Year:

1993

Language:

english

File:

PDF, 2.13 MB

english, 1993

23

Chromosomal breakage, endomitosis, endoreduplication, and hypersensitivity toward radiomimetric and alkylating agents: A possible new autosomal recessive mutation in a girl with craniosynostosis and microcephaly

Niels Tommerup, Else Mortensen, Morten H. Nielsen, Rolf -D. Wegner, Detlev Schindler, Margareta Mikkelsen

Journal:

Year:

1993

Language:

english

File:

PDF, 2.14 MB

english, 1993

24

Exclusion/confirmation of Ataxia-telangiectasia via cell-cycle testing

Tilman Heinrich, Carolin Prowald, Richard Friedl, Benni Gottwald, Reinhard Kalb, Kornelia Neveling, Sabine Herterich, Holger Hoehn, Detlev Schindler

Journal:

European Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 575 KB

english, 2006

25

New mutations in the ataxia telangiectasia gene

A. Baumer, Ulrike Bernthaler, Werner Wolz, Holger Hoehn, Detlev Schindler

Journal:

Year:

1996

Language:

english

File:

PDF, 77 KB

english, 1996

26

New mutations in theATMgene and clinical data of 25 AT patients

Ilja Demuth, Véronique Dutrannoy, Wilson Marques, Heidemarie Neitzel, Detlev Schindler, Petja S. Dimova, Krystyna H. Chrzanowska, Veneta Bojinova, Hanna Gregorek, Luitgard M. Graul-Neumann, Arpad von

Journal:

Year:

2011

Language:

english

File:

PDF, 326 KB

english, 2011

27

Mutation analysis of theSLX4/FANCPgene in hereditary breast cancer

Rosa Landwehr, Natalia V. Bogdanova, Natalia Antonenkova, Andreas Meyer, Michael Bremer, Tjoung-Won Park-Simon, Peter Hillemanns, Johann H. Karstens, Detlev Schindler, Thilo Dörk

Journal:

Breast Cancer Research and Treatment

Year:

2011

Language:

english

File:

PDF, 345 KB

english, 2011

28

Delayed diagnosis and complications of Fanconi anaemia at advanced age – a paradigm

Kirsten Huck, Helmut Hanenberg, Sonja Gudowius, Roland Fenk, Reinhard Kalb, Kornelia Neveling, Beate Betz, Dieter Niederacher, Rainer Haas, Ulrich Göbel, Guido Kobbe, Detlev Schindler

Journal:

British Journal of Haematology

Year:

2006

Language:

english

File:

PDF, 374 KB

english, 2006

29

Fanconi anaemia – response to Manoharan

Helmut Hanenberg, Kirsten Huck, Sonja Gudowius, Ulrich Göbel, Guido Kobbe, Rainer Haas, Reinhard Kalb, Kornelia Neveling, Detlev Schindler

Journal:

British Journal of Haematology

Year:

2006

Language:

english

File:

PDF, 437 KB

english, 2006

30

Response to X-Irradiation of Fanconi Anemia Homozygous and Heterozygous Cells Assessed by the Single-Cell Gel Electrophoresis (Comet) Assay

Djuzenova, Cholpon S, Rothfuss, Andreas, Oppitz, Ulrich, Speit, Günter, Schindler, Detlev, Hoehn, Holger, Flentje, Michael

Journal:

Laboratory Investigation

Year:

2001

Language:

english

File:

PDF, 146 KB

english, 2001

31

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

Reid, Sarah, Schindler, Detlev, Hanenberg, Helmut, Barker, Karen, Hanks, Sandra, Kalb, Reinhard, Neveling, Kornelia, Kelly, Patrick, Seal, Sheila, Freund, Marcel

Journal:

Nature Genetics

Year:

2006

Language:

english

File:

PDF, 181 KB

english, 2006

32

Localisation of a Fanconi anaemia gene to chromosome 9p

Saar, Kathrin, Schindler, Detlev, Wegner, Rolf-Dieter, Reis, André, Wienker, Thomas F, Hoehn, Holger, Joenje, Hans, Sperling, Karl, Digweed, Martin

Journal:

European Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 184 KB

english, 1998

33

Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9

Demuth, Ilja, Wlodarski, Marcin, Tipping, Alex J, Morgan, Neil V, de Winter, Johan P, Thiel, Michaela, Gräsl, Sonja, Schindler, Detlev, D'Andrea, Alan D, Altay, Cigdem

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 1.70 MB

english, 2000

34

SV40 large T-antigen disturbs the formation of nuclear DNA-repair foci containing MRE11

Digweed, Martin, Demuth, Ilja, Rothe, Susanne, Scholz, Regina, Jordan, Andreas, Grötzinger, Carsten, Schindler, Detlev, Grompe, Markus, Sperling, Karl

Journal:

Year:

2002

Language:

english

File:

PDF, 210 KB

english, 2002

35

Fanconi’s Anemia and Clinical Radiosensitivity

Michael Bremer, Detlev Schindler, Michaela Groß, Thilo Dörk, Susanne Morlot, JohannH. Karstens

Journal:

Strahlentherapie und Onkologie

Year:

2003

File:

PDF, 354 KB

2003

36

Modulation of the spontaneous G2 phase blockage in Fanconi anemia cells by caffeine: differences from cells arrested by X-irradiation

Helga Seyschab, Gisela Bretzel, Richard Friedl, Detlev Schindler, Yujie Sun, Holger Hoehn

Journal:

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis

Year:

1994

Language:

english

File:

PDF, 718 KB

english, 1994

37

Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder

Regina Waltes, Reinhard Kalb, Magtouf Gatei, Amanda W. Kijas, Markus Stumm, Alexandra Sobeck, Britta Wieland, Raymonda Varon, Yaniv Lerenthal, Martin F. Lavin, Detlev Schindler, Thilo Dörk

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 867 KB

english, 2009

38

Correct mRNA Processing at a Mutant TT Splice Donor in FANCC Ameliorates the Clinical Phenotype in Patients and Is Enhanced by Delivery of Suppressor U1 snRNAs

Linda Hartmann, Kornelia Neveling, Stephanie Borkens, Hildegard Schneider, Marcel Freund, Elke Grassman, Stephan Theiss, Angela Wawer, Stefan Burdach, Arleen D. Auerbach, Detlev Schindler, Helmut Hane

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 893 KB

english, 2010

39

A case report of a patient with microcephaly, facial dysmorphism, mitomycin-c-sensitive lymphocytes, and susceptibility to lymphoma

Sameer Bakhshi, Hans Joenje, Detlev Schindler, Anneke Oostra, Anwar N. Mohamed, David Madgy, Yaddanapudi Ravindranath, Esteban Abella

Journal:

Cancer Genetics and Cytogenetics

Year:

2006

Language:

english

File:

PDF, 146 KB

english, 2006

40

Genotype–phenotype correlations in Fanconi anemia

Kornelia Neveling, Daniela Endt, Holger Hoehn, Detlev Schindler

Journal:

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis

Year:

2009

Language:

english

File:

PDF, 1.87 MB

english, 2009

41

Hepatoblastoma in a 4-year-old girl with Fanconi anaemia

Sascha Kopic, Katharina Eirich, Beatrice Schuster, Helmut Hanenberg, Raymonda Varon-Mateeva, Olaf Rittinger, Günther Schimpl, Detlev Schindler, Neil Jones

Journal:

Acta Paediatrica

Year:

2011

Language:

english

File:

PDF, 244 KB

english, 2011

42

Analysis ofSLX4/FANCPin non-BRCA1/2-mutated breast cancer families

Juana Fernández-Rodríguez, Francisco Quiles, Ignacio Blanco, Alex Teulé, Lídia Feliubadaló, Jesús del Valle, Mónica Salinas, Àngel Izquierdo, Esther Darder, Detlev Schindler, Gabriel Capellá, Joan Bru

Journal:

Year:

2012

Language:

english

File:

PDF, 197 KB

english, 2012

43

Small deletions in the regulatory 3′ UTR of the human α-tropomyosin gene identified by differential display

Simone A Planitzer, Andreas W Machl, Detlev Schindler, Manfred Kubbies

Journal:

Molecular and Cellular Probes

Year:

1998

Language:

english

File:

PDF, 1.18 MB

english, 1998

44

A method for the rapid detection of urinary glycopeptides in α-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases

Detlev Schindler, Tamotsu Kanzaki, Robert J. Desnick

Journal:

Clinica Chimica Acta

Year:

1990

Language:

english

File:

PDF, 1.22 MB

english, 1990

45

Treatment of the bone marrow failure in Fanconi anemia patients with danazol

Kathrin Scheckenbach, Mary Morgan, Judith Filger-Brillinger, Matthias Sandmann, Bruce Strimling, Wolfram Scheurlen, Detlev Schindler, Ulrich Göbel, Helmut Hanenberg

Journal:

Blood Cells, Molecules, and Diseases

Year:

2012

Language:

english

File:

PDF, 306 KB

english, 2012

46

A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12

Oliver Bartsch, Detlev Schindler, Vera Beyer, Stefan Gesk, Ruben van’t Slot, Isa Feddersen, Arjan Buijs, Nicolaas G.J. Jaspers, Reiner Siebert, Thomas Haaf, Martin Poot

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 1.06 MB

english, 2012

47

Fanconi anemia in a neonate with pancytopenia

Eva Landmann, Renate Bluetters-Sawatzki, Detlev Schindler, Ludwig Gortner

Journal:

The Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 129 KB

english, 2004

48

A Ubiquitin-Binding Protein, FAAP20, Links RNF8-Mediated Ubiquitination to the Fanconi Anemia DNA Repair Network

Zhijiang Yan, Rong Guo, Manikandan Paramasivam, Weiping Shen, Chen Ling, David Fox III, Yucai Wang, Anneke B. Oostra, Julia Kuehl, Duck-Yeon Lee, Minoru Takata, Maureen E. Hoatlin, Detlev Schindler, H

Journal:

Year:

2012

Language:

english

File:

PDF, 4.75 MB

english, 2012

49

Molecular cloning, structural organization, sequence, chromosomal assignment, and expression of the mouse alpha-N-acetylgalactosaminidase gene

Thomas Herrmann, Detlev Schindler, Hiroyuki Tabe, Osamu Onodera, Shuichi Ikarashi, Axel Polack, Dominique Zehnpfennig, Shoji Tsuji

Journal:

Year:

1998

Language:

english

File:

PDF, 3.21 MB

english, 1998

50

Fanconi's anaemia cells have normal steady-state levels and repair of oxidative DNA base modifications sensitive to Fpg protein

Olaf Will, Detlev Schindler, Serge Boiteux, Bernd Epe

Journal:

Mutation Research/DNA Repair

Year:

1998

Language:

english

File:

PDF, 271 KB

english, 1998

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