J. Reiss

发表

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

D. Cooper, M. Krawczak, J. Reiss, 1992, Human Genetics.

Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase

F. Scaglia, J. Reiss, P. Latour, 2005, Human Genetics.

Characterization of pathological dystrophin transcripts from the lymphocytes of a muscular dystrophy carrier.

D. Cooper, V. Kakkar, J. Reiss, 1990, Molecular biology & medicine.

Possible association of mitochondrial transcription factor A (TFAM) genotype with sporadic Alzheimer disease

R. Nitsch, C. Hock, G. Binetti, 2004, Neuroscience Letters.

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2

J. Reiss, R. Hahnewald, 2011, Human mutation.

The effect of replication errors on the mismatch analysis of PCR-amplified DNA.

M Krawczak, D. Cooper, M. Krawczak, 1990, Nucleic acids research.

Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli.

J. Reiss, J. Sass, H. Gröne, 2004, Human molecular genetics.

The neurotransmitter receptor-anchoring protein gephyrin reconstitutes molybdenum cofactor biosynthesis in bacteria, plants, and mammalian cells.

J. Reiss, J. Schulze, R. Mendel, 1999, Proceedings of the National Academy of Sciences of the United States of America.

Ectopic (illegitimate) transcription: new possibilities for the analysis and diagnosis of human genetic disease.

D. Cooper, V. Kakkar, J. Reiss, 1994, Annals of medicine.

Molybdenum Cofactor and Sulfite Oxidase Deficiency

J. Reiss, 2016 .

Diagnosis of haemophilia B using the polymerase chain reaction

J. Reiss, B. Zoll, K. Wieland, 2005, Blut.

Ornithine transcarbamylase (OTC) deficiency in a female patient with a de novo deletion of the paternal X chromosome

J. Reiss, R. Słomski, J. Colombo, 1992, Human Genetics.

Molybdenum cofactor-deficient mice resemble the phenotype of human patients.

J. Reiss, J. Sass, I. Adham, 2002, Human molecular genetics.

A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency.

J. Reiss, E. Christensen, R. Mendel, 2001, American journal of human genetics.

gene strategy for the detection of point mutations in the human factor VIII The molecular genetic analysis of hemophilia A : a directed search

Whitmore, Wensley, K., 2003 .

The Molecular Genetic Analysis of Hemophilia A : A Directed Search Strategy for the Detection of Point Mutations in the Human Factor VI 11 Gene

Goossens, U., Whitmore, 2003 .

Long-term rescue of a lethal inherited disease by adeno-associated virus-mediated gene transfer in a mouse model of molybdenum-cofactor deficiency.

S. Kügler, J. Reiss, R. Hahnewald, 2007, American journal of human genetics.

Successful Treatment of Molybdenum Cofactor Deficiency Type A With cPMP

F. Wong, J. Reiss, G. Schwarz, 2010, Pediatrics.

The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons.

J. Reiss, S. Gross-Hardt, 2002, Molecular genetics and metabolism.

Genetics of molybdenum cofactor deficiency

J. Reiss, 2000, Human Genetics.

Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A

J. Reiss, E. Christensen, G. Kurlemann, 1998, Human Genetics.

Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency

T. Dierks, H. Mandel, J. Reiss, 1998, Nature Genetics.

A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation

I. Mader, J. Reiss, S. Grünert, 2018, Journal of Inherited Metabolic Disease.

The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis.

Enrico Garattini, Wolfgang Engel, Olaf Riess, 2005, Molecular genetics and metabolism.

Cranial ultrasound and chronological changes in molybdenum cofactor deficiency

J. Reiss, R. Artuch, B. Pérez-Dueñas, 2007, Pediatric Radiology.

Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames.

J. Reiss, R. Mendel, A. Haenni, 1999, American journal of human genetics.

De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis.

D. Cooper, V. Kakkar, J. Reiss, 1992, Genomics.

Application of the polymerase chain reaction to the diagnosis of human genetic disease

D. Cooper, J. Reiss, 1990, Human Genetics.

Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences

D. Cooper, J. Reiss, M. Wagner, 1990, Human Genetics.

The polymerase chain reaction and its potential role in clinical diagnostics and research

J. Reiss, 1991, Journal of internal medicine.

Association of late-onset Alzheimer disease with a genotype of PLAU, the gene encoding urokinase-type plasminogen activator on chromosome 10q22.2

R. Nitsch, C. Hock, G. Binetti, 2003, Neurogenetics.

Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

X. Estivill, K. Klinger, B. Kerem, 1992, Human Genetics.

Polymerase chain reaction: replication errors and reliability of gene diagnosis.

J. Reiss, J. Schmidtke, U. Rösler, 1989, Nucleic acids research.

Application of non-radioactive methods of DNA detection in analysis of human genetic disorders.

J. Reiss, R. Słomski, M. Jungerman, 1989, Acta biochimica Polonica.

Genetic Vaccines and Therapy

J. Reiss, Waja Wegner, Quan Liu, 2009 .

Detection of human spermatid-specific transcripts in peripheral blood lymphocytes of males and females

J. Reiss, W. Engel, R. Słomski, 1991, Human Genetics.

Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA

D. Cooper, V. Kakkar, J. Reiss, 1990, Human Genetics.

Identification of a new DMD gene deletion by ectopic transcript analysis.

F. Hanefeld, J. Reiss, R. Słomski, 1992, Journal of medical genetics.

A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.

J. Reiss, M. Schloesser, R. Bertele, 1991, Journal of medical genetics.

An explanation for the constitutive exon 9 cassette splicing of the DMD gene.

J. Reiss, F. Rininsland, 1994, Human molecular genetics.

Skipping of multiple CFTR exons is not a result of single exon omissions

J. Reiss, A. Rickers, F. Rininsland, 1994, Human Genetics.

Frequency of the F508 deletion in the CFTR gene in Turkish cystic fibrosis patients

B. Tümmler, S. Bremer, J. Reiss, 1990, Human Genetics.

Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene

D. Cooper, M. Krawczak, G. Cutting, 1991, Human Genetics.

Microlesions and polymorphisms in the Duchenne/Becker muscular dystrophy gene

J. Reiss, F. Rininsland, 1994, Human Genetics.

A novel CFTR mutation, 4035delA, detected by non-radioactive SSCP analysis

J. Reiss, H. Posselt, F. Rininsland, 1992, Human Genetics.

[Use of polymerase chain reaction (PCR) in clinical diagnosis].

J. Reiss, R. Słomski, H. Chlebowska, 1992, Postepy biochemii.

Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia

A. Gunduz, C. Yalçınkaya, J. Reiss, 2010, Brain and Development.

Non-replication of association between cathepsin D genotype and late onset Alzheimer disease.

R. Nitsch, G. Binetti, J. Reiss, 2001, American journal of medical genetics.

Genetic association of a cystatin C gene polymorphism with late-onset Alzheimer disease.

B T Hyman, J. Growdon, B. Hyman, 2000, Archives of neurology.

Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency

J. Reiss, J. Sass, W. Sperl, 2003, Journal of Inherited Metabolic Disease.

Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH

J. Reiss, Jean L. Johnson, 2003, Human mutation.

Genetics of molybdenum cofactor deficiency.

J. Reiss, 2000 .

A GPHN point mutation leading to molybdenum cofactor deficiency

J. Reiss, K. Mention-Mulliez, S. Joriot-Chekaf, 2002, Vision Research.

Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping.

H. Mandel, M. Berant, J. Reiss, 1998, American journal of human genetics.

Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in Northern Israel using polymorphic DNA markers

H. Mandel, J. Reiss, N. Cohen, 2000, Prenatal diagnosis.

Molybdenum cofactor deficiency: first prenatal genetic analysis

J. Reiss, E. Christensen, C. Dorche, 1999 .

Molybdenum cofactor deficiency type B knock-in mouse models carrying patient-identical mutations and their rescue by singular AAV injections

J. Reiss, 2019, Human Genetics.

Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency

H. Blom, J. Reiss, C. Peeters-Scholte, 2010, Journal of Inherited Metabolic Disease.

Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.

J. Reiss, R. Mendel, N. Cohen, 1999, American journal of human genetics.

A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase.

J. Reiss, S. Leimkühler, R. Hahnewald, 2006, Molecular genetics and metabolism.

Molecular genetic analysis of 67 patients with duchenne/becker muscular dystrophy

J. Reiss, R. Słomski, J. Kwiatkowska, 1992, Human Genetics.

Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts

D. Cooper, V. Kakkar, J. Reiss, 1992, Human Genetics.

Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon

F. Stanke, B. Tümmler, J. Reiss, 2019, Molecular genetics & genomic medicine.

CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.

K. Will, J. Reiss, J. Schmidtke, 1993, Journal of medical genetics.

Single-strand conformation polymorphism (SSCP) analysis of exon 11 of the CFTR gene reliably detects more than one third of non-ΔF508 mutations in German cystic fibrosis patients

D. Cooper, J. Reiss, F. Rininsland, 2004, Human Genetics.

Absence of mutations in the apolipoprotein E (APOE) gene of patients with Alzheimer disease

J. Reiss, P. Seeman, F. Laccone, 1995, Human mutation.

Frequency of the cystic fibrosis mutation ΔF508 in Poland

M. Krawczak, J. Reiss, T. Mazurczak, 2004, Human Genetics.

Two cystic fibrosis patients with the genotype G542X/G551D

J. Reiss, M. Schloesser, H. Posselt, 1993, Human Genetics.

A cystic fibrosis patient homozygous for the nonsense mutation R553X.

J. Reiss, M. Stuhrmann, M. Schloesser, 1991, Journal of medical genetics.

Direct gene diagnosis of cystic fibrosis by allele-specific polymerase chain reactions.

J. Reiss, M. Schloesser, M. Wagner, 1990, Molecular biology & medicine.

Molybdenum cofactor deficiency: first prenatal genetic analysis

J. Reiss, E. Christensen, C. Dorche, 1999, Prenatal diagnosis.

Simple non-radioactive detection of the CFTR mutation N1303K by artificial creation of a restriction site.

J. Reiss, J. Bal, F. Rininsland, 1992, Molecular and cellular probes.

The frequency of mutations in exon 11 of the CF gene in Polish cystic fibrosis patients.

J. Reiss, T. Mazurczak, J. Bal, 1992, Acta biochimica Polonica.

Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia

A. Gunduz, C. Yalçınkaya, J. Reiss, 2010, Brain and Development.

A cystic fibrosis patient homozygous for the nonsense mutation R553X.

J. Reiss, M. Stuhrmann, M. Schloesser, 1991, Journal of Medical Genetics.