SCHINDLER, Detlev: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

51

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

52

Whole Exome Sequencing Reveals Uncommon Mutations in the Recently Identified Fanconi Anemia Gene SLX 4 / FANCP

Schuster, Beatrice, Knies, Kerstin, Stoepker, Chantal, Velleuer, Eunike, Friedl, Richard, Gottwald-Mühlhauser, Birgit, de Winter, Johan P., Schindler, Detlev

Journal:

Year:

2013

Language:

english

File:

PDF, 274 KB

english, 2013

53

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

54

SCREENING TEST FOR ATAXIA TELANGIECTASIA

Schindler, Detlev, Seyschab, Helga, Poot, Martin, Hoehn, Holger, Schinzel, Albert, Fryns, JeanPierre, Tommerup, Niels, Rabinovitch, PeterS.

Journal:

Year:

1987

Language:

english

File:

PDF, 293 KB

english, 1987

55

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

56

Increased amount and contour length distribution of small polydisperse circular DNA (spcDNA) in Fanconi anemia

Motejlek, Karin, Schindler, Detlev, Assum, Günter, Krone, Winfrid

Journal:

Mutation Research/DNA Repair

Year:

1993

Language:

english

File:

PDF, 913 KB

english, 1993

57

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

58

Lack of Sensitivity of Primary Fanconi's Anemia Fibroblasts to UV and Ionizing Radiation

Reinhard Kalb, Michael Duerr, Matthias Wagner, Sabine Herterich, Michaela Gross, Martin Digweed, Hans Joenje, Holger Hoehn and Detlev Schindler

Journal:

Radiation Research

Year:

2004

Language:

english

File:

PDF, 1.23 MB

english, 2004

59

Pollicization of the index finger in Fanconi anaemia: appearances and functionality 40 years after the intervention

Stivaros, Stavros M., Punekar, Maqsood, Chandler, Kate, Rost, Isabell, Schindler, Detlev, Meyer, Stefan

Journal:

British Journal of Haematology

Year:

2014

Language:

english

File:

PDF, 260 KB

english, 2014

60

Lack of Sensitivity of Primary Fanconi's Anemia Fibroblasts to UV and Ionizing Radiation

Kalb, Reinhard, Duerr, Michael, Wagner, Matthias, Herterich, Sabine, Gross, Michaela, Digweed, Martin, Joenje, Hans, Hoehn, Holger, Schindler, Detlev

Journal:

Radiation Research

Year:

2004

Language:

english

File:

PDF, 152 KB

english, 2004

61

Germline RAD51C mutations confer susceptibility to ovarian cancer

Meindl, Alfons, Eirich, Katharina, Engert, Stefanie, Becker, Alexandra, Endt, Daniela, Ditsch, Nina, Schmutzler, Rita K, Schindler, Detlev

Journal:

Nature Genetics

Year:

2012

Language:

english

File:

PDF, 95 KB

english, 2012

62

An Investigation into the Glycolipid Metabolism of α- N -Acetylgalactosaminidase-Deficient Fibroblasts Using Native and Artificial Glycolipids

KLIMA, Birgit, POHLENTZ, Gottfried, SCHINDLER, Detlev, EGGE, Heinz

Journal:

Biological Chemistry Hoppe-Seyler

Year:

1992

File:

PDF, 1.84 MB

1992

63

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

64

Isolation and Structural Characterization of Sialic Acid-Containing Glycopeptides of the O-GlycosidicType from the Urine of Two Patients with an Hereditary Deliciency in α-N-Acetylgalactosaminidase Activity

LINDEN, Hans-Ulrich, KLEIN, Roger A., EGGE, Heinz, PETER-KATALINIC, Jasna, DABROWSKI, Janusz, SCHINDLER, Detlev

Journal:

Biological Chemistry Hoppe-Seyler

Year:

1989

Language:

english

File:

PDF, 1.29 MB

english, 1989

65

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

66

Prenatal Exclusion/Confirmation of Fanconi Anemia via Flow Cytometry: A Pilot Study

Bechtold, Astrid, Friedl, Richard, Kalb, Reinhard, Gottwald, Benni, Neveling, Kornelia, Gavvovidis, Ioannis, Herterich, Sabine, Schindler, Detlev, Hoehn, Holger

Journal:

Fetal Diagnosis and Therapy

Year:

2006

Language:

english

File:

PDF, 129 KB

english, 2006

67

FANCJ suppresses microsatellite instability and lymphomagenesis independent of the Fanconi anemia pathway

Matsuzaki, Kenichiro, Borel, Valerie, Adelman, Carrie A., Schindler, Detlev, Boulton, Simon J.

Journal:

Genes & Development

Year:

2015

Language:

english

File:

PDF, 966 KB

english, 2015

68

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

69

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

70

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

71

Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly

Marchal, Juan Alberto, Ghani, Mahdi, Schindler, Detlev, Gavvovidis, Ioannis, Winkler, Tina, Esquitino, Veronique, Sternberg, Nadine, Busche, Andreas, Krawitz, Peter, Hecht, Joachim, Robinson, Peter, M

Journal:

Year:

2011

File:

PDF, 2.42 MB

2011

72

Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly

Marchal, Juan Alberto, Ghani, Mahdi, Schindler, Detlev, Gavvovidis, Ioannis, Winkler, Tina, Esquitino, Veronique, Sternberg, Nadine, Busche, Andreas, Krawitz, Peter, Hecht, Joachim, Robinson, Peter, M

Journal:

Year:

2011

Language:

english

File:

PDF, 2.42 MB

english, 2011

73

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

74

X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy

Mikat, Barbara, Roll, Claudia, Schindler, Detlev, Gembruch, Ulrich, Klempert, Iris, Buiting, Karin, Bramswig, Nuria C., Wieczorek, Dagmar

Journal:

Clinical Dysmorphology

Year:

2016

Language:

english

File:

PDF, 212 KB

english, 2016

75

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

76

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

77

Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management

Sathyanarayana, Vijaya, Lee, Beth, Wright, Neville B., Santos, Rui, Bonney, Denise, Wynn, Robert, Patel, Leena, Chandler, Kate, Cheesman, Ed, Schindler, Detlev, Webb, Nicholas J. A., Meyer, Stefan

Journal:

Pediatric Nephrology

Year:

2018

Language:

english

File:

PDF, 390 KB

english, 2018

78

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

79

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

80

Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges

Knies, Kerstin, Schuster, Beatrice, Ameziane, Najim, Rooimans, Martin, Bettecken, Thomas, de Winter, Johan, Schindler, Detlev, Schuelke, Markus

Journal:

Year:

2012

Language:

english

File:

PDF, 4.82 MB

english, 2012

81

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

82

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, 4.07 MB

english, 2017

83

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

84

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

85

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

86

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

87

Twenty-seven year follow-up of Fanconi Anemia from REFAIN (Registry for Fanconi Anemia in India)-Finite disappointment and infinite hope

Mohan, Sheila, Raj, Revathi, Rajajee, Sarala, Pushpa, V., Rao, V.B., Schindler, Detlev, Batish, Sat Dev, Auerbach, Arleen

Journal:

Pediatric Hematology Oncology Journal

Year:

2018

Language:

english

File:

PDF, 48 KB

english, 2018

88

Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations

van Os, Nienke J H, Chessa, Luciana, Weemaes, Corry M R, van Deuren, Marcel, Fiévet, Alice, van Gaalen, Judith, Mahlaoui, Nizar, Roeleveld, Nel, Schrader, Christoph, Schindler, Detlev, Taylor, Alexand

Journal:

Journal of Medical Genetics

Year:

2019

Language:

english

File:

PDF, 1.23 MB

english, 2019

89

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

90

Disease and mutation: correlations coming to fruition

Schindler, Detlev, Kalb, Reinhard

Journal:

Year:

2020

File:

PDF, 596 KB

2020

91

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

92

Compromised repair of radiation-induced DNA double-strand breaks in Fanconi anemia fibroblasts in G2

Zahnreich, Sebastian, Weber, Britta, RÃ¶sch, Gundula, Schindler, Detlev, Schmidberger, Heinz

Journal:

Year:

2020

File:

PDF, 6.21 MB

2020

93

Decreased platelet reactivity identified by whole blood flow cytometry in Fanconi anaemia patients

Holzhauer, Susanne, Sitaru, Ana-Gabriela, Ebell, Wolfram, Schindler, Detlev, Hanenberg, Helmut, Wirbelauer, Johannes, Walter, Ulrich, Grossmann, Ralf

Journal:

Thrombosis and Haemostasis

Year:

2007

File:

PDF, 324 KB

2007

94

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

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски