B. Dworniczak

发表

Increased expression of secreted frizzled-related protein 4 in polycystic kidneys.

R. Kumar, Daniel Romaker, Michael Puetz, 2009, Journal of the American Society of Nephrology : JASN.

Identification of four novel mutations in the factor VIII gene: Three missense mutations (E1875G, G2088S, I2185T) and a 2‐bp deletion (1780delTC)

B. Dworniczak, K. Tavassoli, A. Eigel, 1998, Human mutation.

Cilia at the Node of Mouse Embryos Sense Fluid Flow for Left-Right Determination via Pkd2

J. Nakai, H. Hamada, B. Dworniczak, 2012, Science.

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Lara E Sucheston-Campbell, Simon G. Coetzee, Lara E. Sucheston-Campbell, 2017, Nature Genetics.

Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12

B. Dworniczak, L. Hagenfeldt, J. Horst, 1992, Human mutation.

Ecdysterone, Ecdysterone Receptor, and Chromosome Puffs

O. Pongs, B. Dworniczak, S. Kobus, 1983 .

Phenylketonuria: detection of a frequent haplotype 4 allele mutation

B. Dworniczak, J. Horst, C. Aulehla‐Scholz, 1989, Human Genetics.

Phenylalanine hydroxylase gene: silent mutation uncovers evolutionary origin of different alleles

B. Dworniczak, J. Horst, C. Aulehla‐Scholz, 1990, Clinical genetics.

Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.

F. Hildebrandt, B. Dworniczak, P. Pennekamp, 2010, Clinical journal of the American Society of Nephrology : CJASN.

Developmental regulation of a constitutively expressed mouse mRNA encoding a 72-kDa heat shock-like protein.

L. Giebel, B. Dworniczak, E. Bautz, 1988, Developmental biology.

SPEF2- and HYDIN-mutant Cilia Lack the Central Pair Associated Protein SPEF2 Aiding PCD Diagnostics.

H. Omran, B. Dworniczak, P. Pennekamp, 2019, American journal of respiratory cell and molecular biology.

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

H. Brunner, H. Omran, M. Schmidts, 2018, American journal of human genetics.

Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls

J. Mayerle, M. Lerch, B. Dworniczak, 2005, Gut.

Non-isotopic detection of single strand conformation polymorphism (PCR-SSCP): a rapid and sensitive technique in diagnosis of phenylketonuria.

W. Böcker, B. Dworniczak, B. Dockhorn‐Dworniczak, 1991, Nucleic acids research.

Angiotensin-converting enzyme activity and the ACE Alu polymorphism in autosomal dominant polycystic kidney disease.

L. Beilin, J. Hallmayer, V. Burke, 2001, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Comparison of conformation-sensitive gel electrophoresis and single-strand conformation polymorphism analysis for detection of mutations in the BRCA1 gene using optimized conformation analysis protocols

B. Dworniczak, S. Preisler‐Adams, J. Horst, 1998, European Journal of Human Genetics.

Primer Mismatch Analysis: a Rapid and Non-Isotopic Method for Analysing Ras Mutations in Human Cancer

W. Böcker, B. Dworniczak, B. Dockhorn‐Dworniczak, 1991 .

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Annette Lee, W. Chung, R. Nussbaum, 2018, Human mutation.

Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin.

B. Dworniczak, I. Schönbuchner, B. Fiebig, 2006, Cancer genetics and cytogenetics.

The human RHOX gene cluster: target genes and functional analysis of gene variants in infertile men.

M. Wilkinson, B. Dworniczak, Hye-Won Song, 2016, Human molecular genetics.

A 28-kb deletion spanning D15S63 (PW71) in five families: a rare neutral variant?

I. Temple, I. Lerer, D. Abeliovich, 1999, American journal of human genetics.

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

H. Mussaffi, H. Omran, S. Letteboer, 2020, Nature Communications.

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.

H. Mussaffi, H. Omran, M. Schmidts, 2018, American journal of human genetics.

Mutations in C11ORF70 cause primary ciliary dyskinesia with randomization of left/right body asymmetry due to outer and inner dynein arm defects

H. Omran, M. Schmidts, B. Dworniczak, 2017, bioRxiv.

Mechanism of cystogenesis in nephrotic kidneys: a histopathological study

B. Dworniczak, S. Weber, K. Vukojević, 2014, BMC Nephrology.

Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles

L. Kalaydjieva, B. Dworniczak, J. Horst, 1992, Clinical genetics.

Analysis of exon 7 of the human phenylalanine hydroxylase gene: A mutation hot spot?

L. Kalaydjieva, B. Dworniczak, J. Horst, 1992, Human mutation.

Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.

B. Dworniczak, J. Horst, C. Aulehla‐Scholz, 1991, Genomics.

Annexin A5 interacts with polycystin-1 and interferes with the polycystin-1 stimulated recruitment of E-cadherin into adherens junctions.

C. Reutelingsperger, B. Dworniczak, V. Gerke, 2007, Journal of molecular biology.

Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice.

H. Omran, B. Dworniczak, P. Pennekamp, 2019, Circulation. Genomic and precision medicine.

Phenylketonuria mutation in southern Europeans

M. Devoto, L. Kalaydjieva, B. Dworniczak, 1991, The Lancet.

New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia

B. Dworniczak, M. Konrad, S. Laínez, 2013, European Journal of Human Genetics.

Characterization of the murine polycystic kidney disease (Pkd2) gene

H. Hameister, B. Dworniczak, P. Pennekamp, 1998, Mammalian Genome.

Population genetics of phenylketonuria in Bulgaria

L. Kalaydjieva, B. Dworniczak, I. Kremensky, 1993 .

Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria.

M. Devoto, L. Kalaydjieva, B. Dworniczak, 1991, Journal of medical genetics.

Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations.

B. Dworniczak, L. Tyfield, C. Scriver, 1994, Human molecular genetics.

Classical phenylketonuria in Bulgaria: RFLP haplotypes and frequency of the major mutations.

L. Kalaydjieva, B. Dworniczak, J. Bronzova, 1990, Journal of medical genetics.

BRCA1/2 mutation prevalence in triple-negative breast cancer patients without family history of breast and ovarian cancer.

D. Steinemann, A. Meindl, R. Schmutzler, 2016 .

Phenylketonuria in Poland: 66% of PKU alleles are caused by three mutations

B. Dworniczak, A. Eigel, J. Horst, 1991, Human Genetics.

A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1

L. Kalaydjieva, B. Dworniczak, A. Eigel, 1991, Human Genetics.

Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene

L. Kalaydjieva, B. Dworniczak, I. Kremensky, 1991, Human Genetics.

Silent mutations inthephenylalanine hydroxylase gene asan aidtothediagnosis ofphenylketonuria

M. Devoto, L. Kalaydjieva, B. Dworniczak, 1991 .

PCR detection of the Bg1II RFLP at the human phenylalanine hydroxylase (PAH) locus.

B. Dworniczak, J. Horst, N. Wedemeyer, 1991, Nucleic acids research.

PCR detection of the PvuII (Ea) RFLP at the human phenylalanine hydroxylase (PAH) locus.

B. Dworniczak, A. Eigel, J. Horst, 1991, Nucleic acids research.

PCR detection of the MspI (Aa) RFLP at the human phenylalanine hydroxylase (PAH) locus.

B. Dworniczak, J. Horst, N. Wedemeyer, 1991, Nucleic acids research.

Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia.

B. Dworniczak, E. Nieschlag, M. Simoni, 1997, Fertility and sterility.

Overexpression of PKD2 in the mouse is associated with renal tubulopathy.

B. Dworniczak, P. Pennekamp, S. Burtey, 2008, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Sickle Cell Anemia: Conclusions from a Forensic Case Report of a Young African Woman Who Died After Anesthesia

R. Hofmockel, B. Dworniczak, H. Nizze, 2006, Ultrastructural pathology.

Hypomagnesemia with Secondary Hypocalcemia Linked to a Novel TRPM6 Gene Mutation

M. Gribaa, B. Dworniczak, A. Marzouk, 2016 .

The genomic organization and the full coding region of the human PAX7 gene.

B. Dworniczak, B. Dockhorn‐Dworniczak, J. Horst, 1997, Genomics.

Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A

B. Dworniczak, H. Pollmann, U. Nowak‐Göttl, 2005, Human mutation.

Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A

B. Dworniczak, H. Pollmann, U. Nowak‐Göttl, 2002, Human mutation.

Geographical distribution gradients of the major PKU mutations and the linked haplotypes

L. Kalaydjieva, B. Dworniczak, V. Kučinskas, 1991, Human Genetics.

CFTR gene mutations in men with bilateral ejaculatory-duct obstruction and anomalies of the seminal vesicles.

B. Dworniczak, E. Nieschlag, H. Behre, 1997, American journal of human genetics.

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens

T. Dörk, D. Wieczorek, B. Dworniczak, 1997, Human Genetics.

Copy Number Variants in Patients with Severe Oligozoospermia and Sertoli-Cell-Only Syndrome

B. Dworniczak, A. Röpke, P. Wieacker, 2011, PloS one.

Genetic diseases of the seminal ducts.

B. Dworniczak, E. Nieschlag, J. Horst, 1998, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.

Parental origin of the extra haploid chromosome set in triploidies diagnosed prenatally.

W. Holzgreve, H. Rehder, B. Dworniczak, 1995, American journal of medical genetics.

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.

Stefania Tommasi, Laura Cortesi, Mads Thomassen, 2019, Cancer research.

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Michael Jones, Peter Kraft, Arnaud Droit, 2017, Nature Genetics.

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

W. Chung, R. Nussbaum, F. Couch, 2017, Journal of the National Cancer Institute.

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

D. Steinemann, F. Couch, B. Bonanni, 2016, PloS one.

No evidence for uniparental disomy of the sex chromosomes in idiopathic male infertility.

B. Dworniczak, E. Nieschlag, H. Behre, 2000, Molecular human reproduction.

Screening for Deletions of the Y Chromosome Involving the DAZ (Deleted in Azoospermia) Gene in Azoospermia and Severe Oligozoospermia

B. Dworniczak, E. Nieschlag, M. Simoni, 1998 .

Structure and expression of a human gene coding for a 71 kd heat shock 'cognate' protein

B. Dworniczak, M. E. Mirault, B. Dworniczak, 1987, Nucleic Acids Res..

Chromosomal evolution of the PKD1 gene family in primates

M. Krawczak, C. Münch, B. Dworniczak, 2008, BMC Evolutionary Biology.

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

J. Ramser, A. Meindl, R. Schmutzler, 2018, Breast Cancer Research.

DIRECT SEQUENCING OF AMPLIFIED DNA IN PRENATAL DIAGNOSIS OF β-THALASSAEMIA

R. Spiegelberg, W. Holzgreve, B. Dworniczak, 1989, The Lancet.

Nucleotide sequence of a processed human hsc70 pseudogene.

L. Giebel, B. Dworniczak, E. Bautz, 1987, Nucleic acids research.

Genetic heterogeneity of polycystic kidney disease in Bulgaria

J. Hallmayer, L. Kalaydjieva, B. Dworniczak, 1994, Human Genetics.

Inducible Cre/loxP Recombination in the Mouse Proximal Tubule

J. Tchinda, P. Chambon, D. Metzger, 2007, Nephron Experimental Nephrology.

A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1.

G. Germino, F. Qian, B. Dworniczak, 2005, Human molecular genetics.

Cardiovascular characterization of Pkd2(+/LacZ) mice, an animal model for the autosomal dominant polycystic kidney disease type 2 (ADPKD2).

J. Stypmann, W. Haverkamp, L. Eckardt, 2007, International journal of cardiology.

Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women

E. Schröck, P. Bauer, C. Sutter, 2019, BMC Cancer.

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.

Julian Peto, Kyriaki Michailidou, Kamila Czene, 2016, Human molecular genetics.

Screening the 3′ region of the polycystic kidney disease 1 (PKD1) gene in 41 Bulgarian and Australian kindreds reveals a prevalence of protein truncating mutations

L. Kalaydjieva, B. Dworniczak, J. Horst, 2000, Human mutation.

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

D. Steinemann, F. Couch, O. Olopade, 2017, Journal of Clinical Oncology.

Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes.

B. Dworniczak, J. Horst, V. Gerke, 2001, Genomics.

Puffing activities and binding of ecdysteroid to polytene chromosomes of Drosophila melanogaster.

O. Pongs, B. Dworniczak, R. Seidel, 1983, The EMBO journal.

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Lara E Sucheston-Campbell, Simon G. Coetzee, Dennis J. Hazelett, 2017, Nature Genetics.

Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

Nina Ditsch, Peter Nürnberg, Dieter Niederacher, 2018, Cancer medicine.

Detection and characterization of circulating cell free tumor DNA in cancer patients with malignant solid tumors. Liquid biopsy: a new tool in molecular pathology?

B. Dworniczak, B. Dockhorn‐Dworniczak, T. Hinrichsen, 2016 .

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

Jane E. Carpenter, A. Whittemore, S. Cross, 2016, Breast Cancer Research.

Syddansk Universitet Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12 p 11 locus

Jane E. Carpenter, Jaana M. Hartikainen, S. Cross, 2016 .

DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.

R. Durbin, H. Omran, N. Katsanis, 2016, American journal of respiratory cell and molecular biology.

Two polymorphic dinucleotide repeats in intron 44 of the dystrophin gene

J. D. Dunnen, B. Dworniczak, J. Horst, 1995, Human Genetics.

A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome

B. Dworniczak, K. Bartholomé, B. Lüdecke, 2004, Human Genetics.

Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe.

L. Kalaydjieva, B. Dworniczak, J. Horst, 1991, Genomics.

Situs inversus and ciliary abnormalities: 20 years later, what is the connection?

H. Hamada, B. Dworniczak, P. Pennekamp, 2015, Cilia.

Low‐risk variants FGFR2, TNRC9 and LSP1 in German familial breast cancer patients

T. Meitinger, T. Illig, K. Hemminki, 2010, International journal of cancer.

The human RHOX gene cluster: target genes and functional analysis of gene variants in infertile men.

M. Wilkinson, B. Dworniczak, A. Röpke, 2016, Human molecular genetics.

RNA polymerase II of Drosophila. Relation of its 140,000 Mr subunit to the beta subunit of Escherichia coli RNA polymerase.

B. Dworniczak, D. Faust, E. Bautz, 1987, Journal of molecular biology.

Centrosome overduplication and mitotic instability in PKD2 transgenic lines

M. Mattei, B. Dworniczak, S. Burtey, 2008, Cell biology international.

The Ion Channel Polycystin-2 Is Required for Left-Right Axis Determination in Mice

B. Dworniczak, P. Pennekamp, B. Skryabin, 2002, Current Biology.

Problems in detecting mosaic DNA methylation in Angelman syndrome

B. Janssen, B. Dworniczak, B. Horsthemke, 2003, European Journal of Human Genetics.

Seven novel and four recurrent point mutations in the factor VIII (F8C) gene

B. Dworniczak, H. Pollmann, A. Eigel, 2001, Human mutation.

Identification of cysteine-10 of protein S18 as part of the mRNA-binding site of Escherichia coli ribosomes by affinity-labeling studies with a chemically reactive A-U-G analog.

O. Pongs, M. Yaguchi, B. Dworniczak, 1978, European journal of biochemistry.

Regulation of Development of Salivary Glands in 3rd Instar Drosophila melanogaster Larvae by Ecdysone

O. Pongs, B. Dworniczak, S. Kobus, 1982 .

Human Phenylalanine eation Woe Spot? lase Gene: A

L. Kalaydjieva, B. Dworniczak, J. Horst, 2005 .

Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women

E. Schröck, P. Bauer, C. Sutter, 2019, BMC Cancer.

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

Jane E. Carpenter, A. Whittemore, S. Cross, 2016, Breast Cancer Research.

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2019, Nature Communications.

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

A. Whittemore, S. Cross, R. Nussbaum, 2016, Breast Cancer Research.

Chromosomal evolution of the PKD1 gene family in primates

M. Krawczak, C. Münch, B. Dworniczak, 2009, BMC Evolutionary Biology.