SCHINDLER, Detlev: search on Z-Library

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1

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

2

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

3

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

4

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

5

Central nervous system abnormalities in Fanconi anaemia: patterns and frequency on magnetic resonance imaging

Stivaros, Stavros M, Alston, Robert, Wright, Neville B, Chandler, Kate, Bonney, Denise, Wynn, Robert F, Will, Andrew M, Punekar, Maqsood, Loughran, Sean, Kilday, John-Paul, Schindler, Detlev, Patel, L

Journal:

British Journal of Radiology

Year:

2015

Language:

english

File:

PDF, 1.25 MB

english, 2015

6

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

7

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

8

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

9

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

10

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

11

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

12

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

13

Androgen therapy in Fanconi anemia: A retrospective analysis of 30 years in Germany

Paustian, Laura, Chao, Mwe Mwe, Hanenberg, Helmut, Schindler, Detlev, Neitzel, Heidemarie, Kratz, Christian Peter, Ebell, Wolfram

Journal:

Pediatric Hematology-Oncology

Year:

2016

Language:

english

File:

PDF, 698 KB

english, 2016

14

Corrigendum: Clinical and Molecular Heterogeneity of RTEL1 Deficiency

Speckmann, Carsten, Sahoo, Sushree Sangita, Rizzi, Marta, Hirabayashi, Shinsuke, Karow, Axel, Serwas, Nina Kathrin, Hoemberg, Marc, Damatova, Natalja, Schindler, Detlev, Vannier, Jean-Baptiste, Boulto

Journal:

Frontiers in Immunology

Year:

2017

Language:

english

File:

PDF, 95 KB

english, 2017

15

Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation

Hagl, Beate, Spielberger, Benedikt D., Thoene, Silvia, Bonnal, Sophie, Mertes, Christian, Winter, Christof, Nijman, Isaac J., Verduin, Shira, Eberherr, Andreas C., Puel, Anne, Schindler, Detlev, Rulan

Journal:

Scientific Reports

Year:

2018

Language:

english

File:

PDF, 3.16 MB

english, 2018

16

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

17

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

18

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

19

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

20

RPA-Mediated Recruitment of the E3 Ligase RFWD3 Is Vital for Interstrand Crosslink Repair and Human Health

Feeney, Laura, Muñoz, Ivan M., Lachaud, Christophe, Toth, Rachel, Appleton, Paul L., Schindler, Detlev, Rouse, John

Journal:

Year:

2017

Language:

english

File:

PDF, 3.20 MB

english, 2017

21

A Novel MCPH1 Isoform Complements the Defective Chromosome Condensation of Human MCPH1-Deficient Cells

Gavvovidis, Ioannis, Rost, Isabell, Trimborn, Marc, Kaiser, Frank J., Purps, Josephine, Wiek, Constanze, Hanenberg, Helmut, Neitzel, Heidemarie, Schindler, Detlev, Fugmann, Sebastian D.

Journal:

Year:

2012

Language:

english

File:

PDF, 770 KB

english, 2012

22

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease || Schindler Disease

Schindler, Detlev

Year:

2015

Language:

english

File:

PDF, 606 KB

english, 2015

23

RAD50 regulates mitotic progression independent of DNA repair functions

Völkening, Lea, Vatselia, Anna, Asgedom, Girmay, Bastians, Holger, Lavin, Martin, Schindler, Detlev, Schambach, Axel, Bousset, Kristine, Dörk, Thilo

Journal:

The FASEB Journal

Year:

2019

File:

PDF, 440 KB

2019

24

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

25

High incidence of Fanconi anaemia in patients with a morphological picture consistent with refractory cytopenia of childhood

Yoshimi, Ayami, Niemeyer, Charlotte, Baumann, Irith, Schwarz-Furlan, Stephan, Schindler, Detlev, Ebell, Wolfram, Strahm, Brigitte

Journal:

British Journal of Haematology

Year:

2013

Language:

english

File:

PDF, 70 KB

english, 2013

26

PRESYMPTOMATIC DIAGNOSIS OF FANCONI'S ANAEMIA

Schindler, Detlev, Kubbies, Manfred, Hoehn, Holger, Schinzel, Albert, Rabinovitch, PeterS.

Journal:

Year:

1985

Language:

english

File:

PDF, 144 KB

english, 1985

27

Living related liver transplantation in an adult patient with hepatocellular adenoma and carcinoma 13 years after bone marrow transplantation for Fanconi anemia: A case report

Colle, Isabelle, Laureys, Geneviève, Raevens, Sarah, Libbrecht, Louis, Leroy, Juliaan G, Reyntjens, Koen, Geerts, Anja, Rogiers, Xavier, Troisi, Roberto I, Hoehn, Holger, Schindler, Detlev, Hanenberg,

Journal:

Hepatology Research

Year:

2013

Language:

english

File:

PDF, 1.04 MB

english, 2013

28

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:

2017

Language:

english

File:

PDF, 4.13 MB

english, 2017

29

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

30

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

31

Loss of CDK5RAP2 affects neural but not non-neural mESC differentiation into cardiomyocytes

Kraemer, Nadine, Ravindran, Ethiraj, Zaqout, Sami, Neubert, Gerda, Schindler, Detlev, Ninnemann, Olaf, Gräf, Ralph, Seiler, Andrea EM, Kaindl, Angela M

Journal:

Year:

2015

Language:

english

File:

PDF, 3.52 MB

english, 2015

32

Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome

Huson, Sue M., Staab, Timo, Pereira, Marta, Ward, Heather, Paredes, Roberto, Evans, D. Gareth, Baumhoer, Daniel, OâSullivan, James, Cheesman, Ed, Schindler, Detlev, Meyer, Stefan

Journal:

Familial Cancer

Year:

2020

File:

PDF, 1.51 MB

2020

33

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

34

Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxiaâtelangiectasia mutated gene)

Asadollahi, Reza, Britschgi, Christian, Joset, Pascal, Oneda, Beatrice, Schindler, Detlev, Meier, Urs R., Rauch, Anita

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

File:

PDF, 1.69 MB

2020

35

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

36

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

37

Immune Thrombocytopenia in Two Unrelated Fanconi Anemia Patients â€“ A Mere Coincidence?

Karastaneva, Anna, Lanz, Sofia, Wawer, Angela, Behrends, Uta, Schindler, Detlev, Dietrich, Ralf, Burdach, Stefan, Urban, Christian, Benesch, Martin, Seidel, Markus G.

Journal:

Frontiers in Pediatrics

Year:

2015

Language:

english

File:

PDF, 692 KB

english, 2015

38

Premature Chromosome Condensation in Humans Associated with Microcephaly and Mental Retardation: A Novel Autosomal Recessive Condition

Heidemarie Neitzel, Luitgard M. Neumann, Detlev Schindler, Andreas Wirges, Holger Tönnies, Marc Trimborn, Alice Krebsova, Reyk Richter, Karl Sperling

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 451 KB

english, 2002

39

Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

Hu, Hao, Matter, Michelle L., Issa-Jahns, Lina, Jijiwa, Mayumi, Kraemer, Nadine, Musante, Luciana, de la Vega, Michelle, Ninnemann, Olaf, Schindler, Detlev, Damatova, Natalia, Eirich, Katharina, Sifri

Journal:

Annals of Clinical and Translational Neurology

Year:

2014

Language:

english

File:

PDF, 1.10 MB

english, 2014

40

Elevated blood levels of Dickkopf-1 are associated with acute infections

Mazon, Melody, Larouche, Valérie, St-Louis, Maryse, Schindler, Detlev, Carreau, Madeleine

Journal:

Immunity, Inflammation and Disease

Year:

2018

Language:

english

File:

PDF, 634 KB

english, 2018

41

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

42

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

43

RAG1 deficiency with a shifting B cell phenotype and chromosomal instability

Ghosh, Sujal, Hönscheid, Andrea, Schwarz, Klaus, Eirich, Katharina, Schindler, Detlev, Schönberger, Stefan, Speckmann, Carsten, Borkhardt, Arndt, Laws, Hans-Jürgen

Journal:

Clinical Immunology

Year:

2014

Language:

english

File:

PDF, 256 KB

english, 2014

44

Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings

Schulz, Solveig, Mensah, Martin A., de Vries, Heike, Fröber, Rosemarie, Romeike, Bernd, Schneider, Uwe, Borte, Stephan, Schindler, Detlev, Kentouche, Karim

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 922 KB

english, 2018

45

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

46

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

47

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

48

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

49

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

50

MCPH1 patient cells exhibit delayed release from DNA damage-induced G 2 /M checkpoint arrest

Gavvovidis, Ioannis, Pöhlmann, Charlotte, Marchal, Juan Alberto, Stumm, Markus, Yamashita, Daisuke, Hirano, Tatsuya, Schindler, Detlev, Neitzel, Heidemarie, Trimborn, Marc

Journal:

Year:

2010

Language:

english

File:

PDF, 3.28 MB

english, 2010

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