E. Schwinger

发表

Rational approach to genetic testing of cystic fibrosis (CF) in infertile men

R. Klingenberg, E. Schwinger, M. Bals-Pratsch, 2005, Andrologia.

Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.

C. P. Morris, H. Scott, E. Schwinger, 1994, Human molecular genetics.

Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).

C. P. Morris, E. Schwinger, J. Hopwood, 1993, Human molecular genetics.

Angiotensin-converting enzyme (ACE) gene polymorphisms and familial occurrence of sarcoidosis.

J. Müller-Quernheim, B. Müller-Myhsok, M. Schlaak, 2001, Journal of internal medicine.

Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration

U. Rüb, E. Schwinger, R. D. de Vos, 2006, Journal of Neural Transmission.

Teratogenic effects in a case of maternal treatment for acute myelocytic leukaemia—neonatal and infantile course

L. Gortner, E. Schwinger, J. Möller, 1994, European Journal of Pediatrics.

Complete cDNA sequence, expression, alternative splicing, and genomic organization of the mouse Nfat5 gene

A. Hebinck, A. Dalski, H. Winking, 2002, Cytogenetic and Genome Research.

Genomic organization of the human NFAT5 gene: exon-intron structure of the 14-kb transcript and CpG-island analysis of the promoter region

E. Schwinger, A. Dalski, C. Zühlke, 2001, Cytogenetic and Genome Research.

Animal Cytogenetics and Comparative Mapping

A. Hebinck, A. Dalski, U. Butzmann, 2002 .

SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6

E. Schwinger, C. Zühlke, M. Spranger, 2003, European Journal of Human Genetics.

Is Intracytoplasmic Sperm Injection Itself an Indication to Perform Preimplantation Genetic Diagnosis (PGD)?

E. Schwinger, U. Gembruch, K. Diedrich, 2001, Fetal Diagnosis and Therapy.

Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations

E. Schwinger, A. Dalski, K. Straube, 2004, European Journal of Human Genetics.

Quantitative PCR analysis of different splice forms of NFAT5 revealed specific gene expression in fetal and adult brain.

E. Schwinger, A. Dalski, C. Zühlke, 2000, Brain research. Molecular brain research.

Assignment of transcription factor NFAT5 to human chromosome 16q22.1, murine chromosome 8D and porcine chromosome 6p1.4 and comparison of the polyglutamine domains

M. Mattei, A. Hebinck, E. Schwinger, 2000, Cytogenetic and Genome Research.

DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease

J. Noth, P. Weiss, A. Lang, 2004, Neurology.

X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32.

E. Schwinger, A. Gal, U. Orth, 1994, Human molecular genetics.

Clinical diagnosis of partial duplication 7q.

E. Schwinger, O. Bartsch, R. Lettau, 1990, American journal of medical genetics.

Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).

J. Mandel, E. Schwinger, A. Gal, 1994, Human molecular genetics.

Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia

P. Pramstaller, L. Ozelius, O. Landt, 2002, Neurology.

Genetics of male subfertility: consequences for the clinical work-up.

E. Schwinger, O. Hiort, P. Schlegel, 1999, Human reproduction.

Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa.

J. Ott, E. Schwinger, L. I. van den Born, 1993, Genomics.