H. Tönnies

发表

Complete reversal of ABCG2-depending atypical multidrug resistance by RNA interference in human carcinoma cells.

H. Lage, V. Materna, Axel Priebsch, 2006, Oligonucleotides.

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH

D. Horn, S. Mundlos, H. Ropers, 2007, European Journal of Pediatrics.

leukemia lymphoid transformation in B-cell precursor acute lymphoblastic , is involved in CRLF2 Deregulated expression of cytokine receptor gene,

R. Siebert, M. Dyer, L. Kearney, 2011 .

Deregulated expression of cytokine receptor gene, CRLF2, is involved in lymphoid transformation in B-cell precursor acute lymphoblastic leukemia.

Takashi Akasaka, Aneela Majid, Heather Morrison, 2009, Blood.

Pyrosequencing-based DNA methylation profiling of Fanconi anemia/BRCA pathway genes in laryngeal squamous cell carcinoma.

R. Siebert, J. Richter, R. Grenman, 2011, International journal of oncology.

Clonal chromosomal aberrations in bone marrow cells of Fanconi anemia patients: gains of the chromosomal segment 3q26q29 as an adverse risk factor.

W. Ebell, H. Tönnies, H. Neitzel, 2003, Blood.

Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region

D. Horn, V. Kalscheuer, H. Tönnies, 2003, American journal of medical genetics. Part A.

Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?

T. Liehr, K. Sperling, H. Tönnies, 2010, Molecular Cytogenetics.

Possible genetic heterogeneity of spinocerebellar ataxia linked to chromosome 15

R. Siebert, K. Lohmann, V. Kostic, 2010, Movement disorders : official journal of the Movement Disorder Society.

Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.

A. von Deimling, A. Grüters, H. Biebermann, 2002, The Journal of clinical investigation.

CGH of microdissected Kaposi's sarcoma lesions reveals recurrent loss of chromosome Y in early and additional chromosomal changes in late tumour stages

E. Castaños-Vélez, P. Biberfeld, B. Christensson, 2006, AIDS.

Three new cases with a supernumerary ring chromosome 1

T. Liehr, M. Martinez-frias, H. Tönnies, 2005, Clinical dysmorphology.

Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome.

D. Horn, A. Reis, H. Tönnies, 2002, American journal of medical genetics.

Genomic aberrations and survival in cutaneous T cell lymphomas.

J. Muche, W. Sterry, H. Tönnies, 2004, The Journal of investigative dermatology.

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

R. Siebert, J. Martín-Subero, R. Hochstenbach, 2010, European journal of medical genetics.

Jacobsen Syndrome and Beckwith‐Wiedemann Syndrome Caused by a Parental Pericentric Inversion inv(11)(p15q24)

D. Steinemann, K. Welte, B. Schlegelberger, 2006, Annals of human genetics.

Dosage effect of zero to three functional LBR-genes in vivo and in vitro.

H. Stassen, W. Hofmann, M. Nowaczyk, 2010, Nucleus.

Dosage effect of zero to three functional LBR-genes in vivo and in vitro

H. Stassen, W. Hofmann, M. Nowaczyk, 2010 .

Array-CGH

R. Siebert, J. Martín-Subero, G. Gillessen‐kaesbach, 2012, medizinische genetik.

A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation.

S. Bens, R. Siebert, U. Stephani, 2011, European journal of medical genetics.

Biallelic inactivation of TRAF3 in a subset of B-cell lymphomas with interstitial del(14)(q24.1q32.33)

R. Siebert, M. Dyer, J. Richter, 2009, Leukemia.

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

H. Ropers, D. Wieczorek, F. Kortüm, 2010, Nature Genetics.

Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18‐Year Study

S. Szymczak, K. Lohmann, C. Depienne, 2022, Movement disorders : official journal of the Movement Disorder Society.

Association of genomic imbalances with drug resistance and thermoresistance in human gastric carcinoma cells

H. Lage, P. Sinha, J. Poland, 2003, International journal of cancer.

Chromosomal Integration Pattern of a Helper-Dependent Minimal Adenovirus Vector with a Selectable Marker Inserted into a 27.4-Kilobase Genomic Stuffer

M. Strauss, H. Tönnies, M. Hillgenberg, 2001, Journal of Virology.

Interphase FISH-Assay for the Detection of MDS- and AML-Associated Chromosomal Imbalances in Native Bone Marrow and Peripheral Blood Cells

H. Tönnies, H. Neitzel, S. Huber, 2007 .

Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia

R. Siebert, K. Lohmann, M. Talkowski, 2017, JAMA neurology.

Chromosomal imbalance letter A de novo 1.1 Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation

S. Bens, R. Siebert, U. Stephani, 2011 .

Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the sonic hedgehog gene and the HLXB9 gene at 7q36.3

D. Horn, A. Moers, H. Tönnies, 2004, American journal of medical genetics. Part A.

Creation of monosomic derivatives of human cultured cell lines.

D. J. Clarke, K. Sperling, C. Downes, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Normal prenatal ultrasound findings in a case with de novo mosaic small supernumerary marker chromosome 18 – how to counsel?

W. Jonat, T. Liehr, S. Gesk, 2012, Journal of Maternal-Fetal & Neonatal Medicine.

Nuchal cystic hygroma in five fetuses from 1819 to 1826 in the Meckel‐anatomical collections at the University of Halle, Germany

J. Opitz, Lennart Olsson, H. Tönnies, 2007, American journal of medical genetics. Part A.

Disruption of the FA/BRCA pathway in bladder cancer

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

Proving the Authenticity of Ancient DNA by Comparative Genomic Hybridization

S. Hummel, B. Herrmann, K. Sperling, 1999, Naturwissenschaften.

Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniques

H. Hennies, H. Tönnies, H. Neitzel, 2004, Cytogenetic and Genome Research.

Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature

H. Tönnies, L. Neumann, H. Neitzel, 2003, American journal of medical genetics. Part A.

Mosaic tetrasomy 9p in a girl with multiple congenital anomalies: cytogenetic and molecular-cytogenetic studies

P. Wieacker, H. Tönnies, M. Stumm, 1999, European Journal of Pediatrics.

A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature

T. Liehr, F. Zintl, G. Senger, 2003, European Journal of Pediatrics.

Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome

N. Tommerup, H. Ropers, T. Haaf, 2001, Journal of medical genetics.

Chapter 14 – Molecular Cytogenetics in Molecular Diagnostics

H. Tönnies, 2017 .

Molecular Cytogenetics in Molecular Diagnostics

H. Tönnies, 2010 .

High resolution ArrayCGH and expression profiling identifies PTPRD and PCDH17/PCH68 as tumor suppressor gene candidates in laryngeal squamous cell carcinoma

R. Siebert, M. Figlerowicz, M. Giefing, 2011, Genes, chromosomes & cancer.

Fluorescence in situ hybridization techniques in medical diagnostics.

H. Tönnies, M. Stumm, 2008, Expert opinion on medical diagnostics.

Deregulation of the telomerase reverse transcriptase (TERT) gene by chromosomal translocations in B-cell malignancies.

R. Gascoyne, W. Klapper, R. Siebert, 2010, Blood.

Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region

R. Pfundt, R. Siebert, U. Stephani, 2010, Epilepsia.

Acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) and club foot diagnosed in a fetus from 1812 in the anatomical collections at the University of Halle, Germany

Lennart Olsson, H. Tönnies, L. Göbbel, 2005, American journal of medical genetics. Part A.

Ulnar–mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene

S. Mundlos, H. Ropers, E. Klopocki, 2006, European Journal of Human Genetics.

Chromosomal imbalances associated with drug resistance and thermoresistance in human pancreatic carcinoma cells.

H. Lage, H. Tönnies, 2004, European journal of cell biology.

New Immortalized Cell Lines of Patients With Small Supernumerary Marker Chromosome

K. Mrasek, T. Liehr, M. Volleth, 2007, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

A novel 8 Mb interstitial deletion of chromosome 8p12‐p21.2

P. Robinson, S. Mundlos, H. Ropers, 2006, American journal of medical genetics. Part A.

Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics

Q. Waisfisz, M. Cornel, P. Borry, 2013, Human mutation.

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.

Fanconi anemia (FA)-associated 3q gains in leukemic transformation consistently target EVI1, but do not affect low TERC expression in FA.

M. Wlodarski, S. Pepper, A. Whetton, 2011, Blood.

Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH

M. Volleth, H. Tönnies, L. Neumann, 2001, Journal of medical genetics.

Chromosomal Aberrations Associated with Clonal Evolution and Leukemic Transformation in Fanconi Anemia: Clinical and Biological Implications

S. Meyer, H. Tönnies, H. Neitzel, 2012, Anemia.

Analysis of sporadic neuroendocrine tumours of the enteropancreatic system by comparative genomic hybridisation

W. Berger, B. Wiedenmann, M. Toliat, 2001, Gut.

Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC

P. Wieacker, T. Bettecken, M. Volleth, 2007, European Journal of Pediatrics.

Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia‐derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption

Reinhard Ullmann, Crispin Miller, Crispin J. Miller, 2007, Genes, chromosomes & cancer.

Myoid differentiation in mesoblastic nephroma: clinicopathologic and cytogenetic findings of a rare case.

M. Vogel, H. Tönnies, C. Bührer, 2002, Journal of pediatric surgery.

Modern molecular cytogenetic techniques in genetic diagnostics.

H. Tönnies, Holger Tönnies, 2002, Trends in molecular medicine.

Autosomal dominant Parkinson’s disease in a large German pedigree

R. Siebert, P. Bauer, A. Sprenger, 2012, Acta neurologica Scandinavica.

Partial trisomy 9p12p21.3 with a normal phenotype

P. Wieacker, M. Volleth, I. Chudoba, 2002, Journal of medical genetics.

Significance of gene expression analysis in uveal melanoma in comparison to standard risk factors for risk assessment of subsequent metastases

E. Thiel, D. Lenze, N. Bornfeld, 2008, Eye.

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.

Prenatal diagnosis and molecular cytogenetic characterisation of a small de novo interstitial duplication 16q11.2‐q13

R. Wegner, H. Tönnies, H. Neitzel, 2006, Prenatal diagnosis.

Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics

R. Wegner, I. Chudoba, H. Tönnies, 2001, Cytogenetic and Genome Research.

banding and region specific FISH probes characterised by high resolution multicolour Chromosome 2 aberrations in clinical cases

T. Liehr, M. Volleth, U. Claussen, 2005 .

Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes

T. Liehr, M. Volleth, U. Claussen, 2002, Journal of medical genetics.

Molecular cytogenetic identification and characterization of a de novo supernumerary neocentromeric derivative chromosome 13

H. Tönnies, L. Neumann, H. Starke, 2006, Cytogenetic and Genome Research.

Predictive genetic testing, risk communication, and risk perception: an international expert meeting in Berlin, Germany

H. Tönnies, E. Fisher, S. Achilles, 2013, Journal of Community Genetics.

factor risk patients: gains of the chromosomal segment 3q26q29 as an adverse Clonal chromosome aberrations in bone marrow cells of Fanconi anemia

W. Ebell, H. Tönnies, S. Huber, 2013 .

Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature

P. Wieacker, H. Tönnies, H. Neitzel, 2001, European Journal of Pediatrics.

First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature

H. Tönnies, M. Trimborn, A. Grueters, 2004, Cytogenetic and Genome Research.

Characterization of Small Marker Chromosomes (SMC) by Recently Developed Molecular Cytogenetic Approaches.

T. Liehr, R. Wegner, G. Senger, 2003, Journal of the Association of Genetic Technologists.

First prenatally detected small supernumerary neocentromeric derivative chromosome 13 resulting in a non-mosaic partial tetrasomy 13q

H. Tönnies, J. Saraiva, I. Carreira, 2008, Cytogenetic and Genome Research.

[Johann Friedrich Meckel the Younger (1781-1833) and modern teratology].

H. Tönnies, L. Göbbel, Anette Musil, 2002, Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische Gesellschaft.

Genotype/phenotype analysis in a patient with pure and complete trisomy 12p

T. Liehr, P. Wieacker, M. Volleth, 2004, American journal of medical genetics. Part A.

Predictive genetic testing, risk communication, and risk perception: an international expert meeting in Berlin, Germany

E. Fisher, H. Tönnies, S. Achilles, 2013, Journal of Community Genetics.

First Systematic CGH-based Analyses of Ancient DNA Samples of Malformed Fetuses Preserved in the Meckel Anatomical Collection in Halle/Saale (Germany)

H. Tönnies, L. Göbbel, A. Gerlach, 2005, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot

N. Arnold, H. Tönnies, H. Neitzel, 2000, Journal of medical genetics.

Molecular cytogenetic techniques for the diagnosis of chromosomal abnormalities in childhood disease

P. Wieacker, H. Tönnies, M. Stumm, 1999, European Journal of Pediatrics.

Prenatal Diagnosis and Molecular Cytogenetic Characterization of an Unusual Complex Structural Rearrangement in a Pregnancy Following Intracytoplasmic Sperm Injection (ICSI)

T. Liehr, H. Tönnies, H. Neitzel, 2005, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Molecular cytogenetic characterisation of an interstitial deletion 12p detected by prenatal diagnosis

E. Klopocki, R. Wegner, H. Tönnies, 2007, Prenatal diagnosis.

Partial monosomy 2p as the single chromosomal anomaly in a case of renal metanephric adenoma.

P. Wieacker, H. Tönnies, M. Stumm, 1999, Cancer genetics and cytogenetics.

Clonal Chromosomal Aberrations in Bone Marrow Cells of Fanconi Anemia Patients: Results and Implications

W. Ebell, H. Tönnies, H. Neitzel, 2007 .

A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy

I. Scheffer, R. Siebert, U. Stephani, 2010, Epilepsia.

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

R. Siebert, J. Martín-Subero, R. Hochstenbach, 2010, European journal of medical genetics.

IGH@ Translocations Involving the Pseudoautosomal Region 1 (PAR1) of Both Sex Chromosomes Deregulate the Cytokine Receptor-Like Factor 2 (CRLF2) Gene in B Cell Precursor Acute Lymphoblastic Leukemia (BCP-ALL)

R. Siebert, M. Dyer, O. Bernard, 2008 .

Newborn screening in Germany

H. Tönnies, U. Nennstiel, 2022, Medizinische Genetik.

Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8

K. Sperling, E. Petek, K. Wagner, 2007, American journal of medical genetics. Part A.

A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy

I. Scheffer, R. Siebert, U. Stephani, 2010, Epilepsia.