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Eberhard Schwinger

Research Profile

Concepts & Ideas

Physiology

Procedures

Chemicals & Drugs

Disorders

Genes & Molecular Sequences

Anatomy

X Chromosome

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Germany

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Anne Weissbach; Norbert Brüggemann; Johann Hagenah; Meike Kasten; Christine Klein; Ebba Lohmann; Thora Lohnau; Hiltrud Muhle; Irene Pichler; Peter P Pramstaller; Alexander Schmidt; Eberhard Schwinger; Katharina Siegesmund; Ulrich Stephani; Katja Lohmann
Exome sequencing in a family with restless legs syndrome.
Georg Griesinger; Nana Bündgen; Diana Salmen; Eberhard Schwinger; Gabriele Gillessen-Kaesbach; Klaus Diedrich
Polar body biopsy in the diagnosis of monogenic diseases: the birth of three healthy children.
Katja Lohmann-Hedrich; A Neumann; André Kleensang; Thora Lohnau; Hiltrud Muhle; Ana Djarmati; Inke R König; Peter P Pramstaller; Eberhard Schwinger; Patricia L Kramer; Andreas Ziegler; Ulrich Stephani; Christine Klein
Evidence for linkage of restless legs syndrome to chromosome 9p: are there two distinct loci?

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All Publications

2012: Anne Weissbach; Norbert Brüggemann; Johann Hagenah; Meike Kasten; Christine Klein; Ebba Lohmann; Thora Lohnau; Hiltrud Muhle; Irene Pichler; Peter P Pramstaller; Alexander Schmidt; Eberhard Schwinger; Katharina Siegesmund; Ulrich Stephani; Katja Lohmann
Exome sequencing in a family with restless legs syndrome.
Movement disorders : official journal of the Movement Disorder Society 2012;27(13):1686-9.
2009: Georg Griesinger; Nana Bündgen; Diana Salmen; Eberhard Schwinger; Gabriele Gillessen-Kaesbach; Klaus Diedrich
Polar body biopsy in the diagnosis of monogenic diseases: the birth of three healthy children.
Deutsches Ärzteblatt international 2009;106(33):533-8.
2008: Katja Lohmann-Hedrich; A Neumann; André Kleensang; Thora Lohnau; Hiltrud Muhle; Ana Djarmati; Inke R König; Peter P Pramstaller; Eberhard Schwinger; Patricia L Kramer; Andreas Ziegler; Ulrich Stephani; Christine Klein
Evidence for linkage of restless legs syndrome to chromosome 9p: are there two distinct loci?
Neurology 2008;70(9):686-94.
2006: Katja Hedrich; Susen Winkler; Johann Hagenah; Kemal Kabakci; Meike Kasten; Eberhard Schwinger; Jens Volkmann; Peter P Pramstaller; Vladimir Kostic; Peter Vieregge; Christine Klein
Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society 2006;21(9):1506-10.
2006: Ana Djarmati; Katja Hedrich; Marina Svetel; Thora Lohnau; Eberhard Schwinger; Stanka Romac; Peter P Pramstaller; Vladimir Kostić; Christine Klein
Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease?
Movement disorders : official journal of the Movement Disorder Society 2006;21(9):1526-30.
2006: Andreas Dalski; Beate Mitulla; Katrin Bürk; Christoph Schattenfroh; Eberhard Schwinger; Christine Zühlke
Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia.
Journal of neurology 2006;253(8):1111-2.
2006: Yorck Hellenbroich; Kristin Gierga; Erich Reusche; Eberhard Schwinger; Thomas Deller; Rob A I de Vos; Christine Zühlke; Udo Rüb
Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration.
Journal of neural transmission (Vienna, Austria : 1996) 2006;113(7):829-43.
2006: Diana Tomi; Askan Schultze-Mosgau; Juliane Eckhold; Beate Schopper; Safaa Al-Hasani; Cordula Steglich; Andreas Gal; Roland Axt-Fliedner; Eberhard Schwinger; Klaus Diedrich; Georg Griesinger
First pregnancy and life after preimplantation genetic diagnosis by polar body analysis for mucopolysaccharidosis type I.
Reproductive biomedicine online 2006;12(2):215-20.
2006: Susanna Adel; Ana Djarmati; Kemal Kabakci; Irene Pichler; Cordula Eskelson; Thora Lohnau; Norman Kock; Johann Hagenah; Katja Hedrich; Eberhard Schwinger; Patricia L Kramer; Peter P Pramstaller; Christine Klein
Co-occurrence of restless legs syndrome and Parkin mutations in two families.
Movement disorders : official journal of the Movement Disorder Society 2006;21(2):258-63.
2005: Yorck Hellenbroich; H Pawlack; Udo Rüb; Eberhard Schwinger; Christine Zühlke
Spinocerebellar ataxia type 4. Investigation of 34 candidate genes.
Journal of neurology 2005;252(12):1472-5.
2005: Bernhard Kis; Katja Hedrich; Martin Kann; Eberhard Schwinger; D Kömpf; Christine Klein; Peter P Pramstaller
Oculogyric dystonic states in early-onset parkinsonism with basal ganglia calcifications.
Neurology 2005;65(5):761.
2005: Katja Hedrich; Peter P Pramstaller; Katrin Stübke; Anja Hiller; Kemal Kabakci; Sabine Purmann; Meike Kasten; Cesa Scaglione; Eberhard Schwinger; Jens Volkmann; Vladimir Kostic; Peter Vieregge; Paolo Martinelli; Giovanni Abbruzzese; Christine Klein; Christine Zühlke
Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?
Movement disorders : official journal of the Movement Disorder Society 2005;20(8):1060-2.
2005: Christine Zühlke; Andreas Dalski; Eberhard Schwinger; Ulrich Finckh
Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.
BMC medical genetics 2005;6():27.
2005: Diana Tomi; Georg Griesinger; Askan Schultze-Mosgau; Juliane Eckhold; Beate Schöpper; Safaa Al-Hasani; Klaus Diedrich; Eberhard Schwinger
Polar body diagnosis for hemophilia a using multiplex PCR for linked polymorphic markers.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2005;53(3):277-80.
2005: Kirsten Mennicke; R D Klingenberg; Monika Bals-Pratsch; Klaus Diedrich; Eberhard Schwinger
Rational approach to genetic testing of cystic fibrosis (CF) in infertile men.
Andrologia 2005;37(1):1-9.
2005: Andreas Dalski; Jassemien Atici; Friedmar R Kreuz; Yorck Hellenbroich; Eberhard Schwinger; Christine Zühlke
Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.
European journal of human genetics : EJHG 2005;13(1):118-20.
2004: Jiong Tao; Hilde Van Esch; M Hagedorn-Greiwe; Kirsten Hoffmann; Bettina Moser; Martine Raynaud; Jürgen Sperner; Jean-Pierre Fryns; Eberhard Schwinger; Jozef Gécz; Hans-Hilger Ropers; Vera Kalscheuer
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.
American journal of human genetics 2004;75(6):1149-54.
2004: Christine Zühlke; A Budnik; Ulrike Gehlken; Andreas Dalski; Sabine Purmann; M Naumann; M Schmidt; Katrin Bürk; Eberhard Schwinger
FMR1 premutation as a rare cause of late onset ataxia--evidence for FXTAS in female carriers.
Journal of neurology 2004;251(11):1418-9.
2004: C H Zühlke; Andreas Dalski; M Habeck; K Straube; Katja Hedrich; M Hoeltzenbein; A Konstanzer; Yorck Hellenbroich; Eberhard Schwinger
Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations.
European journal of human genetics : EJHG 2004;12(11):979-82.
2004: Katja Hedrich; Cordula Eskelson; Beth Wilmot; Karen Marder; Juliette Harris; Jennifer Garrels; Helen Meija-Santana; Peter Vieregge; Helfried Jacobs; Susan Bressman; Anthony E Lang; Martin Kann; Giovanni Abbruzzese; Paolo Martinelli; Eberhard Schwinger; Laurie J Ozelius; Peter P Pramstaller; Christine Klein; Patricia L Kramer
Distribution, type, and origin of Parkin mutations: review and case studies.
Movement disorders : official journal of the Movement Disorder Society 2004;19(10):1146-57.
2004: Birgitt Schuele; Norman Kock; Marina Svetel; Natasa Dragasevic; Katja Hedrich; Patricia de Carvalho Aguiar; Liu Liu; Kemal Kabakci; Jennifer Garrels; E-M Meyer; I Berisavac; Eberhard Schwinger; Patricia L Kramer; Laurie J Ozelius; Christine Klein; Vladimir Kostic
Genetic heterogeneity in ten families with myoclonus-dystonia.
Journal of neurology, neurosurgery, and psychiatry 2004;75(8):1181-5.
2004: Yorck Hellenbroich; Manuel Kaulich; Sven Opitz; Eberhard Schwinger; Christine Zühlke
No association of the SCA1 (CAG)31 allele with Huntington's disease, myotonic dystrophy type 1 and spinocerebellar ataxia type 3.
Psychiatric genetics 2004;14(2):61-3.
2004: Sven Opitz; Barbara Käsmann-Kellner; Markus Kaufmann; Eberhard Schwinger; Christine Zühlke
Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.
Human mutation 2004;23(6):630-1.
2004: Yorck Hellenbroich; W Schulz-Schaeffer; Matthias F Nitschke; J Köhnke; G Händler; Katrin Bürk; Eberhard Schwinger; Christine Zühlke
Coincidence of a large SCA12 repeat allele with a case of Creutzfeld-Jacob disease.
Journal of neurology, neurosurgery, and psychiatry 2004;75(6):937-8.
2004: Matthias Habeck; Christine Zühlke; Karl H P Bentele; Stephan Unkelbach; Wolfram Kress; Katrin Bürk; Eberhard Schwinger; Yorck Hellenbroich
Aprataxin mutations are a rare cause of early onset ataxia in Germany.
Journal of neurology 2004;251(5):591-4.
2004: Katja Hedrich; E-M Meyer; Birgitt Schuele; Norman Kock; Patricia de Carvalho Aguiar; Karin Wiegers; J H T M Koelman; Jennifer Garrels; R Dürr; Liu Liu; Eberhard Schwinger; Laurie J Ozelius; B Landwehrmeyer; A Jon Stoessl; Marina A J Tijssen; Christine Klein
Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations.
Neurology 2004;62(7):1229-31.
2004: Katja Hedrich; Ana Djarmati; Nora Schäfer; Robert Hering; Claudia Wellenbrock; Peter H Weiss; Rüdiger Hilker; Peter Vieregge; Laurie J Ozelius; Peter Heutink; Vincenzo Bonifati; Eberhard Schwinger; Anthony E Lang; J Noth; Susan Bressman; Peter P Pramstaller; Olaf Riess; Christine Klein
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease.
Neurology 2004;62(3):389-94.
2004: Uta Rundshagen; Christine Zühlke; Sven Opitz; Eberhard Schwinger; Barbara Käsmann-Kellner
Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4.
Human mutation 2004;23(2):106-10.
2004: Katrin Bürk; Christine Zühlke; I R König; A Ziegler; Eberhard Schwinger; Christoph Globas; Johannes Dichgans; Yorck Hellenbroich
Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred.
Neurology 2004;62(2):327-9.
2004: Katja Hedrich; Nora Schäfer; Robert Hering; Johann Hagenah; Andrea J Lanthaler; Eberhard Schwinger; Patricia L Kramer; Laurie J Ozelius; Susan Bressman; Giovanni Abbruzzese; Paolo Martinelli; Vladimir Kostic; Peter P Pramstaller; Peter Vieregge; Olaf Riess; Christine Klein
The R98Q variation in DJ-1 represents a rare polymorphism.
Annals of neurology 2004;55(1):145; author reply 145-6.
2003: Claudia Wellenbrock; Katja Hedrich; Nora Schäfer; Meike Kasten; Helfried Jacobs; Eberhard Schwinger; Johann Hagenah; Peter P Pramstaller; Peter Vieregge; Christine Klein
NR4A2 mutations are rare among European patients with familial Parkinson's disease.
Annals of neurology 2003;54(3):415.
2003: Christine Klein; Katja Hedrich; Claudia Wellenbrock; Martin Kann; Juliette Harris; Karen Marder; Anthony E Lang; Eberhard Schwinger; Laurie J Ozelius; Peter Vieregge; Peter P Pramstaller; Patricia L Kramer
Frequency of parkin mutations in late-onset Parkinson's disease.
Annals of neurology 2003;54(3):415-6; author reply 416-7.
2003: C H Zühlke; Matthias Spranger; Stephanie Spranger; R Voigt; M Lanz; Ulrike Gehlken; Frauke Hinrichs; Eberhard Schwinger
SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6.
European journal of human genetics : EJHG 2003;11(8):629-32.
2003: Yorck Hellenbroich; Stefanie Bubel; H Pawlack; Sven Opitz; Peter Vieregge; Eberhard Schwinger; Christine Zühlke
Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region.
Journal of neurology 2003;250(6):668-71.
2003: Vera Kalscheuer; Jiong Tao; Andrew Donnelly; Georgina Hollway; Eberhard Schwinger; Sabine Kübart; Corinna Menzel; Maria Hoeltzenbein; Niels Tommerup; Helen Eyre; Michael Harbord; Eric A Haan; Grant R Sutherland; Hans-Hilger Ropers; Jozef Gécz
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.
American journal of human genetics 2003;72(6):1401-11.
2003: Kirsten Mennicke; Jianbin Yang; Frauke Hinrichs; Andreas Müller; Petra Diercks; Eberhard Schwinger
Validation of primed in situ labeling for interphase analysis of chromosomes 18, X, and Y in uncultured amniocytes.
Fetal diagnosis and therapy 2003;18(2):114-21.
2003: Rebekka Lencer; Katja Trillenberg-Krecker; Eberhard Schwinger; Volker Arolt
Schizophrenia spectrum disorders and eye tracking dysfunction in singleton and multiplex schizophrenia families.
Schizophrenia research 2003;60(1):33-45.
2003: Christine Zühlke; Ulrike Gehlken; Yorck Hellenbroich; Eberhard Schwinger; Katrin Bürk
Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?
Journal of neurology 2003;250(2):161-3.
2002: Christine Klein; Katja Hedrich; K Kabakçi; Kathrin Mohrmann; Karin Wiegers; Olfert Landt; Johann Hagenah; Eberhard Schwinger; Peter P Pramstaller; Laurie J Ozelius; K Gucuyener; Sabiha Aysun; E Demir
Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia.
Neurology 2002;59(11):1783-6.
2002: Birgitt Müller; Katja Hedrich; Norman Kock; Natasa Dragasevic; Marina Svetel; Jennifer Garrels; Olfert Landt; Matthias F Nitschke; Peter P Pramstaller; Wolf Reik; Eberhard Schwinger; Jürgen Sperner; Laurie J Ozelius; Vladimir Kostic; Christine Klein
Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia.
American journal of human genetics 2002;71(6):1303-11.
2002: Manfred Schürmann; Melanie Albrecht; Eberhard Schwinger; Manfred Stuhrmann
CFTR gene mutations in sarcoidosis.
European journal of human genetics : EJHG 2002;10(11):729-32.
2002: Christine Klein; Liu Liu; Dana Doheny; Norman Kock; Birgitt Müller; Patricia de Carvalho Aguiar; Joanne Leung; Deborah de Leon; Susan Bressman; Jeremy Silverman; Christopher Smith; Fabio Danisi; Chris Morrison; Ruth H Walker; Miodrag Velickovic; Eberhard Schwinger; Patricia L Kramer; Xandra O Breakefield; Mitchell F Brin; Laurie J Ozelius
Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.
Annals of neurology 2002;52(5):675-9.
2002: Norman Kock; Birgitt Müller; Peter Vieregge; Peter P Pramstaller; Karen Marder; Giovanni Abbruzzese; Paolo Martinelli; Anthony E Lang; Helfried Jacobs; Johann Hagenah; Juliette Harris; Helen Meija-Santana; Stanley Fahn; Katja Hedrich; Martin Kann; Ulrike Gehlken; Biljana Culjkovic; Eberhard Schwinger; Zbigniew K Wszolek; Christine Zühlke; Christine Klein
Role of SCA2 mutations in early- and late-onset dopa-responsive parkinsonism.
Annals of neurology 2002;52(2):257-8; author reply 258.
2002: Martin Kann; Helfried Jacobs; Kathrin Mohrmann; Kirsten Schumacher; Katja Hedrich; Jennifer Garrels; Karin Wiegers; Eberhard Schwinger; Peter P Pramstaller; Xandra O Breakefield; Laurie J Ozelius; Peter Vieregge; Christine Klein
Role of parkin mutations in 111 community-based patients with early-onset parkinsonism.
Annals of neurology 2002;51(5):621-5.
2002: Kerstin Kutsche; Bernadette Ressler; Heide-Gertrude Katzera; Ulrike Orth; Gabriele Gillessen-Kaesbach; Susanne Morlot; Eberhard Schwinger; Andreas Gal
Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes.
Human mutation 2002;19(5):526-35.
2002: Katja Hedrich; Karen Marder; Juliette Harris; Martin Kann; T Lynch; Helen Meija-Santana; Peter P Pramstaller; Eberhard Schwinger; Susan Bressman; Stanley Fahn; Christine Klein
Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations.
Neurology 2002;58(8):1239-46.
2002: Martin Kann; Katja Hedrich; Peter Vieregge; Helfried Jacobs; B Müller; Norman Kock; Eberhard Schwinger; Christine Klein; Karen Marder; Juliette Harris; Helen Meija-Santana; Susan Bressman; Laurie J Ozelius; Anthony E Lang; Peter P Pramstaller
The parkin gene is not involved in late-onset Parkinson's disease.
Neurology 2002;58(5):835; author reply 835.
2002: Christine Zühlke; Andreas Dalski; Yorck Hellenbroich; Stefanie Bubel; Eberhard Schwinger; Katrin Bürk
Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles.
European journal of human genetics : EJHG 2002;10(3):204-9.
2002: Peter P Pramstaller; Bernhard Kis; Cordula Eskelson; Katja Hedrich; Monika Scherer; Eberhard Schwinger; Xandra O Breakefield; Patricia L Kramer; Laurie J Ozelius; Christine Klein
Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene.
Movement disorders : official journal of the Movement Disorder Society 2002;17(2):424-6.
2002: Benigna von Brederlow; Hanno Bolz; Andreas R Janecke; Alicia La O Cabrera; Günther Rudolph; Birgit Lorenz; Eberhard Schwinger; Andreas Gal
Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.
Human mutation 2002;19(3):268-73.
2002: Reiner Johannisson; E Leuschner; Michael Hüppe; Frauke Hinrichs; Safaa Al-Hasani; Klaus Diedrich; Eberhard Schwinger; Kirsten Mennicke
Increased frequency of X-bearing sperm in males from an infertility clinic: analysis by two-color fluorescence in situ hybridization.
Cytogenetic and genome research 2002;98(4):240-4.
2002: Walther Traut; Elmar Endl; Silvia Garagna; Thomas E Scholzen; Eberhard Schwinger; Johannes Gerdes; Heinz Winking
Chromatin preferences of the perichromosomal layer constituent pKi-67.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2002;10(8):685-94.
2002: Andreas Dalski; A Hebinck; Heinz Winking; U Butzmann; Eberhard Schwinger; Christine Zühlke
Complete cDNA sequence, expression, alternative splicing, and genomic organization of the mouse Nfat5 gene.
Cytogenetic and genome research 2002;97(3-4):179-82.
2001: Yorck Hellenbroich; G Tzivras; B Neppert; Eberhard Schwinger; Christine Zühlke
R124C mutation of the betaIGH3 gene leads to remarkable phenotypic variability in a Greek four-generation family with lattice corneal dystrophy type 1.
Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde 2001;215(6):444-7.
2001: M Schürmann; Philipp H Reichel; B Müller-Myhsok; M Schlaak; Joachim Müller-Quernheim; Eberhard Schwinger
Results from a genome-wide search for predisposing genes in sarcoidosis.
American journal of respiratory and critical care medicine 2001;164(5):840-6.
2001: Katja Hedrich; Martin Kann; A J Lanthaler; Andreas Dalski; Cordula Eskelson; Olfert Landt; Eberhard Schwinger; Peter Vieregge; Anthony E Lang; Xandra O Breakefield; Laurie J Ozelius; Peter P Pramstaller; Christine Klein
The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism.
Human molecular genetics 2001;10(16):1649-56.
2001: Christine Zühlke; Yorck Hellenbroich; Andreas Dalski; N Kononowa; Johann Hagenah; Peter Vieregge; Olaf Riess; Christine Klein; Eberhard Schwinger
Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia.
European journal of human genetics : EJHG 2001;9(3):160-4.
2001: Yorck Hellenbroich; Eberhard Schwinger; Christine Zühlke
Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes.
Acta neurologica Scandinavica 2001;103(3):188-92.
2001: Michael Ludwig; Annegret Geipel; Christoph Berg; Ulrich Gembruch; Eberhard Schwinger; Klaus Diedrich
Is intracytoplasmic sperm injection itself an indication to perform preimplantation genetic diagnosis (PGD)? About PGD, invasive prenatal diagnosis and genetic sonography.
Fetal diagnosis and therapy 2001;16(2):68-82.
2001: T Harrer; Eberhard Schwinger; Kirsten Mennicke
A new technique for cyclic in situ amplification and a case report about amplification of a single copy gene sequence in human metaphase chromosomes through PCR-PRINS.
Human mutation 2001;17(2):131-40.
2001: J Yang; Eberhard Schwinger; Kirsten Mennicke
Primed in situ labeling: sensitivity and specificity for detection of alpha-satellite DNA in the centromere regions of chromosomes 13 and 21.
Cytogenetics and cell genetics 2001;95(1-2):28-33.
2001: Andreas Dalski; Eberhard Schwinger; Christine Zühlke
Genomic organization of the human NFAT5 gene: exon-intron structure of the 14-kb transcript and CpG-island analysis of the promoter region.
Cytogenetics and cell genetics 2001;93(3-4):239-41.
2001: M Schürmann; Philipp H Reichel; B Müller-Myhsok; T Dieringer; K Wurm; M Schlaak; Joachim Müller-Quernheim; Eberhard Schwinger
Angiotensin-converting enzyme (ACE) gene polymorphisms and familial occurrence of sarcoidosis.
Journal of internal medicine 2001;249(1):77-83.
2000: H Maacke; Sven Opitz; K Jost; W Hamdorf; Wilhelm Henning; Stefan Krüger; Alfred C Feller; A Lopens; K Diedrich; Eberhard Schwinger; Horst-Werner Stürzbecher
Over-expression of wild-type Rad51 correlates with histological grading of invasive ductal breast cancer.
International journal of cancer. Journal international du cancer 2000;88(6):907-13.
2000: Andreas Dalski; H J Wagner; Eberhard Schwinger; Christine Zühlke
Quantitative PCR analysis of different splice forms of NFAT5 revealed specific gene expression in fetal and adult brain.
Brain research. Molecular brain research 2000;83(1-2):125-7.
2000: Christine Klein; Karla Schilling; Rachel Saunders-Pullman; Jennifer Garrels; Xandra O Breakefield; Mitchell F Brin; D DeLeon; Dana Doheny; Stanley Fahn; J S Fink; Lars Forsgren; Jennifer Friedman; S Frucht; Juliette Harris; Gösta Holmgren; Bernhard Kis; Roger Kurlan; M Kyllerman; Anthony E Lang; Joanne Leung; Deborah Raymond; J D Robishaw; G Sanner; Eberhard Schwinger; Rowena Tabamo; Michele Tagliati
A major locus for myoclonus-dystonia maps to chromosome 7q in eight families.
American journal of human genetics 2000;67(5):1314-9.
2000: Hendrik Schultz; Kirsten Mennicke; H Schlieker; Safaa Al-Hasani; Monika Bals-Pratsch; Klaus Diedrich; Eberhard Schwinger
Comparative study of disomy and diploidy rates in spermatozoa of fertile and infertile men: a donor-adapted protocol for multi-colour fluorescence in situ hybridization (FISH).
International journal of andrology 2000;23(5):300-8.
2000: M Schürmann; P A Lympany; Philipp H Reichel; B Müller-Myhsok; K Wurm; M Schlaak; Joachim Müller-Quernheim; R M du Bois; Eberhard Schwinger
Familial sarcoidosis is linked to the major histocompatibility complex region.
American journal of respiratory and critical care medicine 2000;162(3 Pt 1):861-4.
2000: Michael Ludwig; D Pergament; Eberhard Schwinger; Klaus Diedrich
The situation of preimplantation genetic diagnosis in Germany: legal and ethical problems.
Prenatal diagnosis 2000;20(7):567-70.
2000: Christine Klein; K Schumacher; Helfried Jacobs; Johann Hagenah; Bernhard Kis; Jennifer Garrels; Eberhard Schwinger; Laurie J Ozelius; Peter P Pramstaller; Peter Vieregge; Patricia L Kramer
Association studies of Parkinson's disease and parkin polymorphisms.
Annals of neurology 2000;48(1):126-7.
2000: Rebekka Lencer; Carsten P. Malchow; Katja Trillenberg-Krecker; Eberhard Schwinger; Volker Arolt
Eye-tracking dysfunction (ETD) in families with sporadic and familial schizophrenia.
Biological psychiatry 2000;47(5):391-401.
2000: A Hebinck; Andreas Dalski; H Engel; M Mattei; R Hawken; Eberhard Schwinger; Christine Zühlke
Assignment of transcription factor NFAT5 to human chromosome 16q22.1, murine chromosome 8D and porcine chromosome 6p1.4 and comparison of the polyglutamine domains.
Cytogenetics and cell genetics 2000;90(1-2):68-70.
1999: Volker Arolt; Rebekka Lencer; Sabine Purmann; M Schürmann; B Müller-Myhsok; K Krecker; Eberhard Schwinger
Testing for linkage of eye tracking dysfunction and schizophrenia to markers on chromosomes 6, 8, 9, 20, and 22 in families multiply affected with schizophrenia.
American journal of medical genetics 1999;88(6):603-6.
1999: Annegret Geipel; Ulrich Gembruch; Michael Ludwig; Ute Germer; Eberhard Schwinger; A Dormeier; Klaus Diedrich
Genetic sonography as the preferred option of prenatal diagnosis in patients with pregnancies following intracytoplasmic sperm injection.
Human reproduction (Oxford, England) 1999;14(10):2629-34.
1999: Wolfgang Küpker; Eberhard Schwinger; O Hiort; Michael Ludwig; Nikos Nikolettos; Peter N Schlegel; Klaus Diedrich
Genetics of male subfertility: consequences for the clinical work-up.
Human reproduction (Oxford, England) 1999;14 Suppl 1():24-37.
1999: Martin Krapp; Ahmet A Baschat; Ulrich Gembruch; K Gloeckner; Eberhard Schwinger; Erich Reusche
Tuberous sclerosis with intracardiac rhabdomyoma in a fetus with trisomy 21: case report and review of literature.
Prenatal diagnosis 1999;19(7):610-3.
1999: B Meissner; Sabine Purmann; M Schürmann; Christine Zühlke; Rebekka Lencer; Volker Arolt; B Müller-Myhsok; Deborah J Morris-Rosendahl; Eberhard Schwinger
hSKCa3: a candidate gene for schizophrenia?
Psychiatric genetics 1999;9(2):91-6.
1999: Rebekka Lencer; Carsten P. Malchow; K Krecker; A Nolte; M Pinnow; S Z von Siefart; Eberhard Schwinger; Volker Arolt
Smooth pursuit performance in families with multiple occurrence of schizophrenia and nonpsychotic families.
Biological psychiatry 1999;45(6):694-703.
1999: Oliver Bartsch; D Ludwig; Eberhard Schwinger; K D Tympner
Severe complications and gastric carcinoma in Mulvihill-Smith syndrome.
Journal of medical genetics 1999;36(2):175.
1999: Christine Zühlke; R Kiehl; A Johannsmeyer; Karl-Heinz Grzeschik; Eberhard Schwinger
Isolation and characterization of novel CAG repeat containing genes expressed in human brain.
DNA sequence : the journal of DNA sequencing and mapping 1999;10(1):1-6.
1998: Christine Zühlke; Franco Laccone; Mireille Cossée; Alfried Kohlschuetter; Michel Koenig; Eberhard Schwinger
Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor.
Human genetics 1998;103(1):102-5.
1998: M Schürmann; Gregor Bein; D Kirsten; M Schlaak; Joachim Müller-Quernheim; Eberhard Schwinger
HLA-DQB1 and HLA-DPB1 genotypes in familial sarcoidosis.
Respiratory medicine 1998;92(4):649-52.
1997: Christine Zühlke; Yorck Hellenbroich; F Schaaff; Ulrike Gehlken; Karl Wessel; T Schubert; J Cervos-Navarro; H Pickartz; Eberhard Schwinger
CAG repeat analyses in frozen and formalin-fixed tissues following primer extension preamplification for evaluation of mitotic instability of expanded SCA1 alleles.
Human genetics 1997;100(3-4):339-44.
1997: Kirsten Mennicke; P Diercks; H Schlieker; Monika Bals-Pratsch; Safaa Al-Hasani; Klaus Diedrich; Eberhard Schwinger
Molecular cytogenetic diagnostics in sperm.
International journal of andrology 1997;20 Suppl 3():11-9.
1996: Volker Arolt; Rebekka Lencer; A Nolte; B Müller-Myhsok; Sabine Purmann; M Schürmann; J Leutelt; M Pinnow; Eberhard Schwinger
Eye tracking dysfunction is a putative phenotypic susceptibility marker of schizophrenia and maps to a locus on chromosome 6p in families with multiple occurrence of the disease.
American journal of medical genetics 1996;67(6):564-79.
1996: Oliver Bartsch; U Kuhnle; L L Wu; Eberhard Schwinger; Georg Klaus Hinkel
Evidence for a critical region for penoscrotal inversion, hypospadias, and imperforate anus within chromosomal region 13q32.2q34.
American journal of medical genetics 1996;65(3):218-21.
1996: U Bestelmeyer; HG Weerda; Ralf Siegert; M Greiwe; Eberhard Schwinger
[Familial occurrence of oculoauricolovertebral dysplasia and Franceschetti syndrome].
HNO 1996;44(8):452-5.
1996: F Schaaff; H Wedemann; Eberhard Schwinger
Analysis of sex and delta F508 in single amniocytes using primer extension preamplification.
Human genetics 1996;98(2):158-61.
1996: Eberhard Schwinger; M Kirschstein; M Greiwe; T Konermann; U Orth; Andreas Gal
Short stature in a mother and daughter with terminal deletion of Xp22.3.
American journal of medical genetics 1996;63(1):239-42.
1996: Ahmet A Baschat; Eberhard Schwinger; Klaus Diedrich
Debate. Assisted reproductive techniques - are we avoiding the genetic issues?
Human reproduction (Oxford, England) 1996;11(5):926-8.
1996: C L von Ballestrem; M G Boavida; C Zuther; M H Carreiro; D David; Andreas Gal; Eberhard Schwinger
Jumping translocation in a phenotypically normal female.
Clinical genetics 1996;49(3):156-9.
1996: S M Gu; U Orth; A Veske; H Enders; K Klunder; M Schlosser; W Engel; Eberhard Schwinger; Andreas Gal
Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.
Journal of medical genetics 1996;33(2):103-6.
1996: Ahmet A Baschat; Wolfgang Küpker; Safaa Al-Hasani; Klaus Diedrich; Eberhard Schwinger
Results of cytogenetic analysis in men with severe subfertility prior to intracytoplasmic sperm injection.
Human reproduction (Oxford, England) 1996;11(2):330-3.
1996: Volker Arolt; Rebekka Lencer; A Nolte; M Pinnow; Eberhard Schwinger
Eye tracking dysfunction in families with multiple cases of schizophrenia.
European archives of psychiatry and clinical neuroscience 1996;246(4):175-81.
1995: B Kreft; M Greiwe; Eberhard Schwinger; A Peters
[45,X/46,XY/47,XXY chromosome mosaicism as a cause of hypergonadotropic hypogonadism diagnosed in late middle age].
Deutsche medizinische Wochenschrift (1946) 1995;120(33):1114-7.
1995: Peter Entzian; E Müller; A Boysen; Andreas Artlich; Eberhard Schwinger; MW Schlaak
Frequency of common cystic fibrosis gene mutations in chronic bronchitis patients.
Scandinavian journal of clinical and laboratory investigation 1995;55(3):263-6.
1995: Andreas Artlich; A Boysen; S Bunge; Peter Entzian; MW Schlaak; Eberhard Schwinger
Common CFTR mutations are not likely to predispose to chronic bronchitis in northern Germany.
Human genetics 1995;95(2):226-8.
1995: M Rathmann; S Bunge; C Steglich; Eberhard Schwinger; Andreas Gal
Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28.
Human genetics 1995;95(1):34-8.
1995: E Popowska; M Rathmann; Anna Tylki-Szymanska; S Bunge; C Steglich; Eberhard Schwinger; Andreas Gal
Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).
Human mutation 1995;5(1):97-100.
1995: C Fuhrmann; C Duvigneau; B Müller; Eberhard Schwinger; C Julier; Horst Laqua; Andreas Gal
Autosomal dominant exudative vitreoretinopathy: linkage analysis and its clinical application.
German journal of ophthalmology 1995;4(1):43-6.
1995: S Bunge; Wim J Kleijer; C Steglich; M Beck; Eberhard Schwinger; Andreas Gal
Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.
Human mutation 1995;6(1):91-4.
1994: S Fuchs; C O Sarde; H Wedemann; Eberhard Schwinger; J L Mandel; Andreas Gal
Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).
Human molecular genetics 1994;3(10):1903-5.
1994: U Orth; N Fairweather; M C Exler; Eberhard Schwinger; Andreas Gal
X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32.
Human molecular genetics 1994;3(9):1699-700.
1994: Oliver Bartsch; K D Tympner; Eberhard Schwinger; R J Gorlin
Mulvihill-Smith syndrome: case report and review.
Journal of medical genetics 1994;31(9):707-11.
1994: Andreas Gal; U Orth; W Baehr; Eberhard Schwinger; T Rosenberg
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness.
Nature genetics 1994;7(4):551.
1994: Andreas Artlich; J Möller; A Tschakaloff; Eberhard Schwinger; K Kruse; Ludwig Gortner
Teratogenic effects in a case of maternal treatment for acute myelocytic leukaemia--neonatal and infantile course.
European journal of pediatrics 1994;153(7):488-91.
1994: S Bunge; Wim J Kleijer; C Steglich; M Beck; C Zuther; C P Morris; Eberhard Schwinger; J J Hopwood; H S Scott; Andreas Gal
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.
Human molecular genetics 1994;3(6):861-6.
1994: Andreas Gal; U Orth; W Baehr; Eberhard Schwinger; T Rosenberg
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness.
Nature genetics 1994;7(1):64-8.
1994: Olaf Hiort; G Klauber; Marc Cendron; G H G Sinnecker; L Keim; Eberhard Schwinger; H J Wolfe; D W Yandell
Molecular characterization of the androgen receptor gene in boys with hypospadias.
European journal of pediatrics 1994;153(5):317-21.
1994: B Müller; U Orth; C E van Nouhuys; C Duvigneau; C Fuhrmann; Eberhard Schwinger; H Laqua; Andreas Gal
Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families.
Genomics 1994;20(2):317-9.
1994: M Schürmann; J Leutelt; Eberhard Schwinger; Andreas Gal
D3S1229 and D3S1246 correspond to the same dinucleotide repeat polymorphism.
Human genetics 1994;93(2):226-7.
1994: Andreas Gal; S Xu; Y Piczenik; H Eiberg; C Duvigneau; Eberhard Schwinger; T Rosenberg
Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3.
Human molecular genetics 1994;3(2):323-5.
1993: M Meins; G Grüning; Anita Blankenagel; Hermann Krastel; B Reck; S Fuchs; Eberhard Schwinger; Andreas Gal
Heterozygous 'null allele' mutation in the human peripherin/RDS gene.
Human molecular genetics 1993;2(12):2181-2.
1993: S Bunge; C Steglich; C Zuther; M Beck; C P Morris; Eberhard Schwinger; A Schinzel; J J Hopwood; Andreas Gal
Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).
Human molecular genetics 1993;2(11):1871-5.
1993: U Orth; W Rosenkranz; Eberhard Schwinger; W Holzgreve; Andreas Gal
[Molecular genetic diagnosis of Wiskott-Aldrich syndrome].
Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft für Kinderheilkunde 1993;141(9):728-31.
1993: Oliver Bartsch; U König; Michael B Petersen; H Poulsen; M Mikkelsen; Francesc Palau; Félix Prieto; Eberhard Schwinger
Cytogenetic, FISH and DNA studies in 11 individuals from a family with two siblings with dup(21q) Down syndrome.
Human genetics 1993;92(2):127-32.
1993: C Steglich; S Bunge; T Hulsebos; M Beck; N J Brandt; Eberhard Schwinger; J J Hopwood; Andreas Gal
Molecular analysis in patients with mucopolysaccharidosis type II suggests that DXS466 maps within the Hunter gene.
Human genetics 1993;92(2):179-82.
1993: S Bunge; H Wedemann; D David; Joseph D Terwilliger; L Ingeborgh Van Den Born; C Aulehla-Scholz; C Samanns; M Horn; J Ott; Eberhard Schwinger
Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa.
Genomics 1993;17(1):230-3.
1993: M Neuber; Helga Rehder; C Zuther; R Lettau; Eberhard Schwinger
Polyploidies in abortion material decrease with maternal age.
Human genetics 1993;91(6):563-6.
1993: Reiner Johannisson; Eberhard Schwinger; Helmut H Wolff; V vom Ende; U Löhrs
The effect of 13;14 Robertsonian translocations on germ-cell differentiation in infertile males.
Cytogenetics and cell genetics 1993;63(3):151-5.
1993: J J Hopwood; S Bunge; C P Morris; P J Wilson; C Steglich; M Beck; Eberhard Schwinger; Andreas Gal
Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.
Human mutation 1993;2(6):435-42.
1992: Y Li; B Müller; C Fuhrmann; C E van Nouhuys; Horst Laqua; P Humphries; Eberhard Schwinger; Andreas Gal
The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533.
American journal of human genetics 1992;51(4):749-54.
1992: Oliver Bartsch; F Aksu; A Fenner; Eberhard Schwinger
[Atypical cat eye syndrome. Fluorescence in situ hybridization of metaphase chromosomes].
Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft für Kinderheilkunde 1992;140(8):460-3.
1992: S Bunge; C Steglich; M Beck; W Rosenkranz; Eberhard Schwinger; J J Hopwood; Andreas Gal
Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).
Human molecular genetics 1992;1(5):335-9.
1992: Andreas Artlich; Eberhard Schwinger; P Meinecke
Setleis (bitemporal 'forceps marks') syndrome in a German family: evidence for autosomal dominant inheritance.
Clinical dysmorphology 1992;1(3):157-60.
1992: R Bilas; D Wilhelm; Eberhard Schwinger; A E Chudley; J P Fryns; P N Howard-Peebles; A Schinzel; B Van Roy; T Webb
Expression of the fragile-X in the "premutated"/"non-imprinted" state.
Genetic counseling (Geneva, Switzerland) 1992;3(4):179-81.
1992: Andreas Gal; M Beck; A C Sewell; C P Morris; Eberhard Schwinger; J J Hopwood
Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe.
Journal of inherited metabolic disease 1992;15(3):342-6.
1991: Y Mehraein; Helga Rehder; H G Draeger; U G Froster-Iskenius; Eberhard Schwinger; W Holzgreve
[Diagnosis of fetal virus infections by in situ hybridization].
Geburtshilfe und Frauenheilkunde 1991;51(12):984-9.
1991: Andreas Gal; Andreas Artlich; M Ludwig; G Niemeyer; K Olek; Eberhard Schwinger; A Schinzel
Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa.
Genomics 1991;11(2):468-70.
1991: Oliver Bartsch; Eberhard Schwinger
A simplified protocol for fluorescence in situ hybridization with repetitive DNA probes and its use in clinical cytogenetics.
Clinical genetics 1991;40(1):47-56.
1991: U Orth; C Samanns; H Gusseck; G Niemeyer; M Ludwig; T Meitinger; A Schinzel; Eberhard Schwinger; Andreas Gal
[Autosomal dominant hereditary retinopathia pigmentosa with genetic heterogeneity].
Fortschritte der Ophthalmologie : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 1991;88(5):455-9.
1990: Oliver Bartsch; U Kalbe; T K Ngo; R Lettau; Eberhard Schwinger
Clinical diagnosis of partial duplication 7q.
American journal of medical genetics 1990;37(2):254-7.
1989: Eberhard Schwinger; E Seidl; F Klink; Helga Rehder
Chromosome mosaicism of the placenta--a cause of developmental failure of the fetus?
Prenatal diagnosis 1989;9(9):639-47.
1989: Helga Rehder; W Coerdt; Reinhard Eggers; F Klink; Eberhard Schwinger
Is there a correlation between morphological and cytogenetic findings in placental tissue from early missed abortions?
Human genetics 1989;82(4):377-85.
1988: K Heyne; Y S Shin; Eberhard Schwinger
[Double heterozygosity (transferase-/epimerase-defect) and galactosemia cataract].
Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft für Kinderheilkunde 1988;136(12):828-30.
1988: E Seidl; W Coerdt; C Zuther; F Klink; Eberhard Schwinger
[Chromosomal mosaicism after diagnostic chorionic villi biopsy. Subsequent study of the placenta].
Zeitschrift für Geburtshilfe und Perinatologie 1988;192(6):253-8.
1988: U Hedemann; M Schürmann; Eberhard Schwinger
The effect of restriction enzyme digestion of human metaphase chromosomes on C-band variants of chromosomes 1 and 9.
Genome / National Research Council Canada = Génome / Conseil national de recherches Canada 1988;30(5):652-5.
1988: D Wilhelm; U Froster-Iskenius; J Paul; Eberhard Schwinger
Fra(X) frequency on the active X-chromosome and phenotype in heterozygous carriers of the fra(X) form of mental retardation.
American journal of medical genetics 1988;30(1-2):407-15.
1988: U Froster-Iskenius; F Klink; G Grzejszczyk; F Sömmer; Eberhard Schwinger; F Oberheuser
[Puncture of the chorionic villi. Technic--experiences--risks].
Zentralblatt für Gynäkologie 1988;110(3):146-57.
1987: C Römke; K Heyne; J Stewens; Eberhard Schwinger
Erroneous diagnosis of fetal alcohol syndrome in a patient with ring chromosome 6.
European journal of pediatrics 1987;146(4):443.
1987: Reiner Johannisson; Helga Rehder; V Wendt; Eberhard Schwinger
Spermatogenesis in two patients with the fragile X syndrome. I. Histology: light and electron microscopy.
Human genetics 1987;76(2):141-7.
1987: C Römke; U Froster-Iskenius; K Heyne; W Höhn; M Hof; G Grzejszczyk; R Rauskolb; Helga Rehder; Eberhard Schwinger
Roberts syndrome and SC phocomelia. A single genetic entity.
Clinical genetics 1987;31(3):170-7.
1987: Reiner Johannisson; U Löhrs; Helmut H Wolff; Eberhard Schwinger
Two different XY-quadrivalent associations and impairment of fertility in men.
Cytogenetics and cell genetics 1987;45(3-4):222-30.
1987: H C Fuhrman; F Klink; G Grzejszczyk; A Vossberg; A Poschmann; G Geusendam; U Froster-Iskenius; Eberhard Schwinger
First trimester diagnosis of Rho (D) with an immunofluorescence technique after chorionic villus sampling.
Prenatal diagnosis 1987;7(1):17-21.
1985: F Klink; U Froster-Iskenius; G Grzejszczyk; Eberhard Schwinger; F Oberheuser
[Gynecologic and cytogenetic aspects of prenatal diagnosis in the 1st trimester of pregnancy].
Geburtshilfe und Frauenheilkunde 1985;45(2):73-8.
1984: U Froster-Iskenius; W Coerdt; Helga Rehder; Eberhard Schwinger
Isochromosome 18q with karyotype 46,XX,i(18q). Cytogenetics and pathology.
Clinical genetics 1984;26(6):549-54.
1983: Reiner Johannisson; A Gropp; Heinz Winking; W Coerdt; Helga Rehder; Eberhard Schwinger
Down's syndrome in the male. Reproductive pathology and meiotic studies.
Human genetics 1983;63(2):132-8.