D. Schindler

发表

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

H. Hoehn, H. Seyschab, G. Bretzel, 1994, Mutation research.

Genotype-phenotype correlations in Fanconi anemia.

Kornelia Neveling, H. Hoehn, D. Schindler, 2009, Mutation research.

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

J. Gagneur, T. Meitinger, J. Orange, 2018, Scientific Reports.

Fanconi anemia: causes and consequences of genetic instability.

H. Hoehn, D. Schindler, K. Neveling, 2006, Genome dynamics.

α-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder

H. Galjaard, D. Schindler, W. Kleijer, 1988, Journal of Inherited Metabolic Disease.

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

H. Hoehn, D. Schindler, M. Flentje, 2001, Laboratory Investigation.

A Role for the Fanconi Anemia C Protein in Maintaining the DNA Damage-induced G2 Checkpoint*

Christie M. Orschell, D. Schindler, H. Hanenberg, 2004, Journal of Biological Chemistry.

Attenuation of the formation of DNA-repair foci containing RAD51 in Fanconi anaemia.

I. Demuth, M. Grompe, K. Sperling, 2002, Carcinogenesis.

Fanconi anemia proteins interact with CtBP1 and modulate the expression of the Wnt antagonist Dickkopf-1.

D. Schindler, G. Lévesque, C. Huard, 2013, Blood.

expression of the Wnt antagonist Dickkopf-1 Fanconi anemia proteins interact with CtBP1 and modulate the

D. Schindler, G. Lévesque, C. Huard, 2013 .

The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4.

I. Demuth, D. Schindler, M. Digweed, 2012, Human molecular genetics.

The nuclease hSNM 1 B / Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP / SLX 4

I. Demuth, D. Schindler, M. Digweed, 2012 .

SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

D. Schindler, J. Rouse, Y. Hilhorst‐Hofstee, 2011, Nature Genetics.

Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction

H. Hoehn, R. Friedl, D. Schindler, 2003, Cytogenetic and Genome Research.

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

I. Demuth, K. Sperling, D. Schindler, 2010, Human mutation.

Establishment of a Mouse Model with Misregulated Chromosome Condensation due to Defective Mcph1 Function

H. Ropers, K. Sperling, D. Schindler, 2010, PloS one.

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

D. Schindler, J. Rouse, R. Toth, 2017, Molecular cell.

Chapter 3 Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX 4 / FANCP

D. Schindler, J. Winter, Friedl, 2015 .

Whole Exome Sequencing Reveals Uncommon Mutations in the Recently Identified Fanconi Anemia Gene SLX4/FANCP

R. Friedl, D. Schindler, J. D. de Winter, 2013, Human mutation.

University of Dundee RPA-Mediated Recruitment of the E 3 Ligase RFWD 3 Is Vital for Interstrand Crosslink Repair and Human Health

D. Schindler, J. Rouse, R. Toth, 2022 .

Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia–telangiectasia mutated gene)

C. Britschgi, D. Schindler, A. Rauch, 2020, Molecular genetics & genomic medicine.

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

D. Schindler, U. Schneider, B. Romeike, 2018, European Journal of Human Genetics.

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

P. Rabinovitch, H. Hoehn, H. Seyschab, 1989, European journal of immunology.

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

B. Epe, D. Schindler, S. Boiteux, 1998, Mutation research.

Endogenous blockage and delay of the chromosome cycle despite normal recruitment and growth phase explain poor proliferation and frequent edomitosis in Fanconi anemia cells.

P. Rabinovitch, H. Hoehn, D. Schindler, 1985, American journal of human genetics.

Fanconi anemia mutation causes cellular susceptibility to ambient oxygen.

H. Hoehn, D. Schindler, 1988, American journal of human genetics.

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

H. Kurumizaka, Koichi Sato, D. Schindler, 2017, Molecular cell.

Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.

G. Pals, J. Soulier, J. Surrallés, 2007, American journal of human genetics.

Immune Thrombocytopenia in Two Unrelated Fanconi Anemia Patients – A Mere Coincidence?

S. Burdach, D. Schindler, U. Behrends, 2015, Front. Pediatr..

A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients.

David A. Williams, D. Schindler, S. Batish, 2005, Molecular therapy : the journal of the American Society of Gene Therapy.

New mutations in the ataxia telangiectasia gene

H. Hoehn, D. Schindler, A. Baumer, 1996, Human Genetics.

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.

T. Dörk, M. Gatei, Y. Lerenthal, 2009, American journal of human genetics.

A recurrent 11q aberration pattern characterizes a subset of MYC-negative high-grade B-cell lymphomas resembling Burkitt lymphoma.

R. Spang, W. Klapper, R. Siebert, 2014, Blood.

-negative high-grade B-cell lymphomas resembling Burkitt lymphoma MYC A recurrent 11q aberration pattern characterizes a subset of

R. Spang, W. Klapper, E. Jaffe, 2014 .

Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)

U. Kölsch, V. Wahn, H. von Bernuth, 2014, Orphanet Journal of Rare Diseases.

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

D. Schindler, R. Gräf, O. Ninnemann, 2015, Cell cycle.

Exploring the link between MORF4L1 and risk of breast cancer

S. Seal, N. Rahman, F. Couch, 2011, Breast Cancer Research.

A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network

J. Surrallés, D. Schindler, E. Callén, 2006, Journal of Medical Genetics.

siRNA screening identifies differences in the Fanconi anemia pathway in BALB/c-Trp53+/− with susceptibility versus C57BL/6-Trp53+/− mice with resistance to mammary tumors

L. Wiesmüller, D. J. Jerry, E. Dickinson, 2013, Oncogene.

Cancer in Children With Fanconi Anemia and Ataxia-Telangiectasia—A Nationwide Register-Based Cohort Study in Germany

T. Dörk, D. Schindler, M. Erlacher, 2021, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

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

D. Schindler, G. Kobbe, H. Hanenberg, 2006, British journal of haematology.

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.

W. Foulkes, G. Capellá, I. Tomlinson, 2019, Cancer cell.

A Novel MCPH 1 Isoform Complements the Defective Chromosome Condensation of Human MCPH 1-Deficient Cells

D. Schindler, Josephine Purps, H. Hanenberg, 2012 .

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

D. Schindler, Josephine Purps, H. Hanenberg, 2012, PloS one.

Neuroaxonal Dystrophy Due to Lysosomal α-N-Acetylgalactosaminidase Deficiency

Anne M. Wang, R. Desnick, D. Schindler, 1989 .

Exploring the link between MORF4L1 and risk of breast cancer

S. Seal, N. Rahman, F. Couch, 2011 .

Cerebral Glucose Metabolism in Type I α-N-Acetylgalactosaminidase Deficiency: An Infantile Neuroaxonal Dystrophy

W. Heiss, M. Planck, R. Desnick, 1999, Journal of child neurology.

Neuroaxonal dystrophy in infantile α-N-acetylgalactosaminidase deficiency

R. Desnick, D. Schindler, D. Wolfe, 1995, Journal of the Neurological Sciences.

New mutations in the ATM gene and clinical data of 25 AT patients

T. Dörk, I. Demuth, K. Chrzanowska, 2011, neurogenetics.

RFWD 3-Mediated Ubiquiti nation Promotes Timely Removal of Both RPA and RAD 51 from DNA Damage Sites to Facilitate Homologous Recombination Graphical

H. Kurumizaka, Koichi Sato, D. Schindler, 2022 .

Germline RAD51C mutations confer susceptibility to ovarian cancer

A. Meindl, R. Schmutzler, N. Ditsch, 2012, Nature Genetics.

A common founder mutation in FANCA underlies the world highest prevalence of Fanconi anemia in Gypsy families from Spain

C. Mathew, R. Marcos, A. Creus, 2004 .

A novel classification of hematologic conditions in patients with Fanconi anemia

F. Thol, I. Baumann, C. Niemeyer, 2021, Haematologica.

Misregulated Chromosome Condensation in MCPH1 Primary Microcephaly is Mediated by Condensin II

T. Hirano, D. Schindler, H. Neitzel, 2006, Cell cycle.

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation

D. Schindler, Wei Chen, A. Huebner, 2013, Orphanet Journal of Rare Diseases.

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

E. Seemanová, H. Hoehn, D. Schindler, 2006, Environmental and molecular mutagenesis.

Human Couples An Association Between the Kinship and Fertility

R. Hennekam, Y. Crow, A. Ekici, 2008 .

Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF

D. Schindler, S. Meyer, A. Raams, 2018, BMC Medical Genetics.

deficiency: new mutations andtheparadox between genotypeandphenotype

Yoshiyuki Suzuki, D. Schindler, R. Wevers, 2011 .

Revertant Mosaicism in Fanconi Anemia: Natural Gene Therapy at Work

H. Hoehn, R. Friedl, D. Schindler, 2007 .

Biosynthesis of human α-N-acetylgalactosaminidase: Defective phosphorylation and maturation in infantile α-NAGA deficiency

Yoshiyuki Suzuki, D. Schindler, A. Reuser, 1991 .

Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts.

D. Schindler, E. Conzelmann, B. Černý, 1998, Journal of lipid research.

Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases the nomenclature used for neutral glycolipids follows the IUPAC-IUB recommendation (1). DOI 10.1194/jlr.M100423-JLR200

R. Desnick, D. Schindler, A. Chabás, 2002, Journal of Lipid Research.

Distinct functional roles for the two SLX4 ubiquitin-binding UBZ domains mutated in Fanconi anemia

D. Schindler, J. Rouse, Thomas Macartney, 2014, Journal of Cell Science.

MCPH1 regulates chromosome condensation and shaping as a composite modulator of condensin II

T. Hirano, D. Schindler, T. Ono, 2011, The Journal of cell biology.

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

T. Dörk, C. Schrader, B. P. Van de Warrenburg, 2019, Journal of Medical Genetics.

Visualization of local DNA unwinding by Mre11/Rad50/Nbs1 using single-molecule FRET

Jeremy M. Stark, R. Russell, Anita Cheng, 2013, Proceedings of the National Academy of Sciences.

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

C. Mathew, M. Thiel, H. Kayserili, 2000, European Journal of Human Genetics.

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

D. Schindler, J. Kilday, S. Meyer, 2015, The British journal of radiology.

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

D. Schindler, C. Kratz, H. Hanenberg, 2016, Pediatric hematology and oncology.

Outcomes of mismatched and unrelated donor hematopoietic stem cell transplantation in Fanconi anemia conditioned with chemotherapy only

I. Baumann, C. Niemeyer, D. Schindler, 2015, Annals of Hematology.

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

H. Hoehn, D. Schindler, H. Joenje, 2004, Radiation research.

Screening Fanconi anemia lymphoid cell lines of non-A, C, D2, E, F, G subtypes for defects in BRCA2/FANCD1

D. Schindler, H. Hanenberg, S. Lobitz, 2004, Cytogenetic and Genome Research.

Fanconi’s Anemia and Clinical Radiosensitivity

T. Dörk, M. Bremer, J. Karstens, 2003, Strahlentherapie und Onkologie (Print).

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

D. Schindler, S. Meyer, K. Chandler, 2018, Pediatric Nephrology.

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

D. Schindler, H. Schmidberger, S. Zahnreich, 2020, DNA repair.

The Fanconi anaemia group G gene FANCG is identical with XRCC9

Hans Joenje, Johan P. de Winter, Quinten Waisfisz, 1998, Nature Genetics.

Comparative evaluation of diepoxybutane sensitivity and cell cycle blockage in the diagnosis of Fanconi anemia.

H. Hoehn, H. Seyschab, R. Friedl, 1995, Blood.

A novel approach to describe a U1 snRNA binding site.

Jørgen Kjems, Imke Meyer, Stephan Theiss, 2003, Nucleic acids research.

PRESYMPTOMATIC DIAGNOSIS OF FANCONI'S ANAEMIA

P. Rabinovitch, H. Hoehn, D. Schindler, 1985, The Lancet.

Structure, origin and effects of a supernumerary marker chromosome 15

M. Schmid, T. Haaf, D. Schindler, 1986, Clinical genetics.

Bromodeoxyuridine amplifies the inhibitory effect of oxygen on cell proliferation.

M. Poot, P. Rabinovitch, H. Hoehn, 1988, Cytometry.

BrdU-Hoechst flow cytometry: a unique tool for quantitative cell cycle analysis.

P. Rabinovitch, H. Hoehn, D. Schindler, 1988, Experimental cell research.

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

M. Schartl, D. Schindler, A. Kraiss, 2007, BMC Developmental Biology.

Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy.

Anne M. Wang, R. Desnick, A. M. Wang, 1990, The Journal of clinical investigation.

Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency.

R. Desnick, A. M. Wang, D. Schindler, 1989, The New England journal of medicine.

Schindler disease: deficient α-N-acetylgalactosaminidase activity

D. Schindler, R. Desnick, 2020, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease.

Schindler Disease: Deficient- N-Acetylgalactosaminidase Activity

R. Desnick, D. Schindler, 2015 .

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.

A. V. D. van den Ouweland, D. Schindler, R. Wevers, 1996, Journal of medical genetics.

LYSOSOMAL α-N-ACETYLGALACTOSAMINIDASE DEFICIENCY: A NEW INHERITED METABOLIC DISEASE

J. Peter-Katalinic, H. Galjaard, D. Schindler, 1987, The Lancet.

Lysosomal alpha-N-acetylgalactosaminidase deficiency: a new inherited metabolic disease.

J. Peter-Katalinic, H. Galjaard, D. Schindler, 1987, Lancet.

alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis.

D. Schindler, R. Wevers, R. Willemsen, 1994, The Journal of pediatrics.

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

R. Desnick, D. Schindler, T. Kanzaki, 1990, Clinica chimica acta; international journal of clinical chemistry.

Disruption of the FA/BRCA pathway in bladder cancer

M. Schmid, C. Steinlein, M. Schmid, 2007, Cytogenetic and Genome Research.

Bibliography of Ulrich Wolf

C. Tyler-Smith, P. Yen, K. Hirschhorn, 2001, Cytogenetic and Genome Research.

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

N. Tommerup, R. Wegner, D. Schindler, 1993, Human Genetics.

Specific silver staining of experimentally undercondensed chromosome regions

M. Schmid, T. Haaf, D. Schindler, 1984, Chromosoma.

Infantile neuroaxonal dystrophy due to deficient α-N-acetylgalactosaminidase activity

Anne M. Wang, R. Desnick, D. Schindler, 1995 .

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

C. Mathew, S. Seal, N. Rahman, 2007, Nature Genetics.

Clinical and Molecular Heterogeneity of RTEL1 Deficiency

U. Pannicke, K. Schwarz, S. Ehl, 2017, Front. Immunol..

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

Dieter Niederacher, Alfons Meindl, Bertram Müller-Myhsok, 2010, Nature Genetics.

The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

J. Ott, D. Schindler, S. Barral, 2005, Nature Genetics.

Mutation of the RAD51C gene in a Fanconi anemia–like disorder

Franca Fraternali, Nazneen Rahman, Christopher G Mathew, 2010, Nature Genetics.

Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families.

J. Benítez, A. Meindl, R. Schmutzler, 2012, Human molecular genetics.

Chromosome banding and DNA replication patterns in bird karyotypes.

M. Schmid, D. Schindler, W. Schempp, 1989, Cytogenetics and cell genetics.

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

D. Wieczorek, D. Schindler, C. Roll, 2016, Clinical dysmorphology.

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.

S. Burdach, D. Schindler, A. Auerbach, 2010, American journal of human genetics.

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

P. Robinson, S. Mundlos, P. Krawitz, 2011, Cell cycle.

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation

T. Wienker, H. Ropers, C. Birchmeier, 2017, PLoS genetics.

A heterozygous frameshift mutation in the Fanconi anemia C gene in familial T-ALL and secondary malignancy.

C. Niemeyer, D. Schindler, R. Schneppenheim, 2000, Klinische Padiatrie.

Mutation Analysis of the ERCC4/FANCQ Gene in Hereditary Breast Cancer

T. Dörk, A. Meyer, E. Khusnutdinova, 2014, PloS one.

Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer

T. Dörk, A. Meyer, P. Hillemanns, 2011, Breast Cancer Research and Treatment.

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

R. Siebert, M. Poot, T. Haaf, 2012, European journal of medical genetics.

Cancer in Fanconi Anemia and Fanconi Anemia Genes in Cancer

D. Schindler, K. Neveling, R. Kalb, 2007 .

Localisation of a Fanconi anaemia gene to chromosome 9p

T. Wienker, H. Hoehn, R. Wegner, 1998, European Journal of Human Genetics.

Genetic instability and fanconi anemia

H. Hoehn, D. Schindler, A. Sobeck, 2003 .

Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia.

S. Gabriel, O. Elemento, C. Sougnez, 2015, Cell reports.

Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.

Chantal Stoepker, Javier Benítez, Jordi Surrallés, 2013, American journal of human genetics.

Roles of brca2 (fancd1) in Oocyte Nuclear Architecture, Gametogenesis, Gonad Tumors, and Genome Stability in Zebrafish

Catherine A. Wilson, J. Postlethwait, Yi-Lin Yan, 2011, PLoS genetics.

Identification of the Fanconi Anemia Complementation Group I Gene, FANCI

C. Mathew, G. Pals, Q. Waisfisz, 2007, Cellular oncology : the official journal of the International Society for Cellular Oncology.

Exploring the role of oxygen in Fanconi's anemia.

M. Poot, W. Liebetrau, H. Hoehn, 1997, Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer.

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

S. Boulton, D. Schindler, C. Adelman, 2015, Genes & development.

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

M. Poot, A. Federico, D. Schindler, 2017, Human mutation.

Identification of ataxia telangiectasia heterozygotes, a cancer-prone population, using the single-cell gel electrophoresis (Comet) assay.

H. Hoehn, D. Schindler, M. Flentje, 1999, Laboratory investigation; a journal of technical methods and pathology.

Fanconi Anemia Genes: Structure, Mutations, and Genotype-Phenotype Correlations

D. Schindler, K. Neveling, S. Herterich, 2007 .

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

M. Poot, P. Rabinovitch, H. Hoehn, 1989, Cytometry.

Cell Cycle Kinetics By Brdu‐Hoechst Flow Cytometry: an Alternative to the Differential Metaphase Labelling Technique

P. Rabinovitch, H. Hoehn, D. Schindler, 1985, Cell and tissue kinetics.

RAD50 regulates mitotic progression independent of DNA repair functions

A. Schambach, T. Dörk, M. Lavin, 2019, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition.

K. Sperling, D. Schindler, H. Tönnies, 2002, American journal of human genetics.

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

D. Schindler, H. Hanenberg, W. Scheurlen, 2012, Blood cells, molecules & diseases.

A Severe Form of Human Combined Immunodeficiency Due to Mutations in DNA Ligase IV1

U. Pannicke, K. Schwarz, W. Friedrich, 2006, The Journal of Immunology.

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

D. Schindler, S. Kopic, H. Hanenberg, 2011, Acta paediatrica.

DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.

A. Schäffer, U. Pannicke, K. Schwarz, 2015, Human molecular genetics.

Applications of Cell Cycle Testing in Fanconi Anemia

H. Hoehn, R. Friedl, D. Schindler, 2007 .

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

N. Ameziane, D. Schindler, T. Bettecken, 2012, PloS one.

Flow Cytometric Testing for Syndromes with Chromosomal Instability, Aplastic Anemia and Related Hematological Disorders

H. Hoehn, D. Schindler, 1999 .

Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

A. Figuera, J. Benítez, J. Surrallés, 2011, Blood.

Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders

Vicente A. Yépez, J. Gagneur, T. Meitinger, 2021, medRxiv.

Prenatal Diagnosis of Fanconi Anemia: Functional and Molecular Testing

R. Friedl, D. Schindler, H. Hanenberg, 2007 .

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

H. Hoehn, R. Friedl, D. Schindler, 2006, European Journal of Pediatrics.

Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia.

J. González, J. Soulier, B. Rodríguez-Santiago, 2017, Blood Advances.

Fanconi anemia in a neonate with pancytopenia.

L. Gortner, D. Schindler, E. Landmann, 2004, The Journal of pediatrics.

FAAP100 is essential for activation of the Fanconi anemia‐associated DNA damage response pathway

Weidong Wang, D. Schindler, A. Medhurst, 2007, The EMBO journal.

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

H. Hoehn, R. Friedl, D. Schindler, 2005, Fetal Diagnosis and Therapy.

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

D. Schindler, D. Kabelitz, T. Hinz, 2000, British journal of haematology.

Polygenic mutations model the pleiotropic disease of Fanconi Anemia

C. Dinardo, D. Schindler, K. Schlacher, 2020, bioRxiv.

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

H. Hoehn, H. Seyschab, R. Friedl, 1993, Human Genetics.

BrdU-Hoechst Flow Cytometry Links the Cell Kinetic Defect of Fanconi Anemia to Oxygen Hypersensitivity

M. Poot, P. Rabinovitch, H. Hoehn, 1989 .

Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents

F. Bassermann, W. Thasler, D. Schindler, 2010, Molecular Cancer.

ATM Protein-dependent Phosphorylation of Rad50 Protein Regulates DNA Repair and Cell Cycle Control*

T. Dörk, M. Gatei, N. Gueven, 2011, The Journal of Biological Chemistry.

RAG1 deficiency with a shifting B cell phenotype and chromosomal instability.

K. Schwarz, A. Borkhardt, D. Schindler, 2014, Clinical immunology.

Two truncating variants in FANCC and breast cancer risk

Jane E. Carpenter, M. Beckmann, P. Fasching, 2019, Scientific Reports.

Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia

Minoru Takata, Jordi Surrallés, J. Surrallés, 2017, The Journal of clinical investigation.

Analysis of global DNA methylation changes in primary human fibroblasts in the early phase following X-ray irradiation

T. Haaf, D. Schindler, T. Müller, 2017, PloS one.

MCPH1 patient cells exhibit delayed release from DNA damage-induced G2/M checkpoint arrest

T. Hirano, D. Schindler, Daisuke Yamashita, 2010, Cell cycle.

Microarray mRNA expression analysis of Fanconi anemia fibroblasts

T. Haaf, D. Schindler, D. Galetzka, 2008, Cytogenetic and Genome Research.

Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer.

J. Satagopan, T. Landers, L. Ben-Porat, 2007, Cancer research.

Histone H2AX and Fanconi anemia FANCD2 function in the same pathway to maintain chromosome stability

R. Marcos, A. Creus, J. Surrallés, 2007, The EMBO journal.

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

A. Jauch, H. Riethman, T. Cremer, 2004, Human Genetics.

Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1

J. Benítez, X. Puente, C. Lázaro, 2018, Nature Communications.

Loss of the Fanconi anemia-associated protein NIPA causes bone marrow failure.

B. Kuster, S. Lemeer, M. Boerries, 2020, The Journal of clinical investigation.

Centromeric association of a microchromosome

M. Schmid, M. Meurer, T. Haaf, 2004, Human Genetics.

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

K. Devriendt, R. Hennekam, H. Brunner, 2008, Science.

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

Raymonda Varon, H. Hoehn, D. Schindler, 2007, Orphanet journal of rare diseases.

Mutational Spectrum of Fanconi Anemia Associated Myeloid Neoplasms

M. Wlodarski, V. Pastor, C. Niemeyer, 2017, Klinische Pädiatrie.

Biallelic mutations in PALB2 cause Fanconi anemia and predispose to childhood cancer

C. Mathew, S. Seal, N. Rahman, 2007 .

Human RAD52 – a novel player in DNA repair in cancer and immunodeficiency

W. Klapper, H. Gohlke, A. Borkhardt, 2017, Haematologica.

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

D. Schindler, V. Larouche, M. St‐Louis, 2018, Immunity, inflammation and disease.

Xavier Rogiers, A. Geerts, I. Colle, 2013, Hepatology research : the official journal of the Japan Society of Hepatology.

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

Karl Sperling, Carsten Grötzinger, Ilja Demuth, 2002, Oncogene.

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

T. Wienker, M. Jijiwa, H. Ropers, 2014, Annals of clinical and translational neurology.

A histone-fold complex and FANCM form a conserved DNA-remodeling complex to maintain genome stability.

Weidong Wang, Ting-Yi Lin, A. Stasiak, 2010, Molecular cell.

A ubiquitin-binding protein, FAAP20, links RNF8-mediated ubiquitination to the Fanconi anemia DNA repair network.

Weidong Wang, D. Schindler, H. Joenje, 2012, Molecular cell.

Protective role of RAD50 on chromatin bridges during abnormal cytokinesis

T. Dörk, M. Lavin, D. Schindler, 2014, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families

M. Pujana, C. Lázaro, G. Capellá, 2012, BMC Cancer.

Fanconi Anemia Core Complex Gene Promoters Harbor Conserved Transcription Regulatory Elements

D. Schindler, Detlev Schindler, Daniel Meier, 2011, PloS one.

Patient-derived C-terminal mutation of FANCI causes protein mislocalization and reveals putative EDGE motif function in DNA repair.

D. Schindler, H. Hanenberg, Tony T. Huang, 2011, Blood.

SCREENING TEST FOR ATAXIA TELANGIECTASIA

M. Poot, P. Rabinovitch, N. Tommerup, 1987, The Lancet.

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

D. Schindler, U. Schneider, B. Romeike, 2018, European Journal of Human Genetics.

Disease and mutation: correlations coming to fruition.

D. Schindler, R. Kalb, 2020, Blood.

Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.

A. Hoischen, S. Lalani, D. Wieczorek, 2023, Genetics in Medicine.

BrdU‐Hoechst flow cytometry reveals regulation of human lymphocyte growth by donor‐age–related growth fraction and transition rate

P. Rabinovitch, H. Hoehn, D. Schindler, 1985, Journal of cellular physiology.

Frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk

T. Dörk, N. Bogdanova, P. Schürmann, 2016, Clinical genetics.

Spectral karyotyping of Werner syndrome fibroblast cultures

C. Steinlein, M. Schmid, H. Hoehn, 2000, Cytogenetic and Genome Research.

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

D. Evans, S. Huson, D. Schindler, 2020, Familial cancer.

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

D. Schindler, W. Krone, G. Assum, 1993, Mutation research.

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

D. Schindler, H. Hanenberg, W. Ebell, 2007, Thrombosis and Haemostasis.

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

K. Sperling, D. Schindler, A. Jackson, 2005, Human mutation.

bloodjournal.hematologylibrary.org at PENN STATE UNIVERSITY on February 23, 2013. For personal use

C. Mathew, R. Marcos, A. Creus, 2022 .

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

T. Dörk, Y. Shiloh, A. Rosenthal, 1999, Human molecular genetics.

Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents

F. Bassermann, W. Thasler, D. Schindler, 2010, Molecular Cancer.

Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome.

D. Schindler, S. Meyer, M. Jenney, 2013, Journal of genetic syndrome & gene therapy.

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

A. Yoshimi, I. Baumann, C. Niemeyer, 2013, British journal of haematology.

On the role of FAN1 in Fanconi anemia.

J. Surrallés, D. Schindler, M. Bogliolo, 2012, Blood.

On the role of FAN 1 in Fanconi anemia

J. Surrallés, D. Schindler, M. Bogliolo, 2012 .

Addendum: The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

J. Ott, D. Schindler, S. Barral, 2005, Nature Genetics.

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

H. Seyschab, D. Schindler, K. Mehnert, 1991, American journal of medical genetics.

Fanconi Anemia: A Paradigmatic Disease for the Understanding of Cancer and Aging

H. Hoehn, D. Schindler, 2007 .

MCPH1 regulates chromosome condensation and shaping as a composite modulator of condensin II

T. Hirano, D. Schindler, T. Ono, 2011, The Journal of cell biology.

Confirmation of Fanconi's Anemia and Detection of a Chromosomal Aberration (1Q12–32 Triplication) Via BRDU/Hoechst Flow Cytometry

P. Rabinovitch, H. Hoehn, D. Schindler, 1987, The American journal of pediatric hematology/oncology.

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

H. Kurumizaka, Koichi Sato, D. Schindler, 2017, Molecular cell.

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

D. Schindler, R. Gräf, O. Ninnemann, 2015, Cell Cycle.

Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.

J. Benítez, J. Surrallés, M. Ramírez, 2013, American journal of human genetics.

A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.

C. Mathew, R. Marcos, A. Creus, 2005, Blood.

The role of the Fanconi anemia pathway in sporadic head and neck cancer

J. Surrallés, D. Schindler, M. Bogliolo, 2022 .

Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia.

S. Gabriel, O. Elemento, C. Sougnez, 2015, Cell reports.