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Jürgen Horst

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Martin Bodner; Bettina Zimmermann; Alexander Röck; Anita Kloss-Brandstätter; David Horst; Basil Horst; Sourideth Sengchanh; Torpong Sanguansermsri; Jürgen Horst; Tanja Krämer; Peter M Schneider; Walther Parson
Southeast Asian diversity: first insights into the complex mtDNA structure of Laos.
Milena Traykova-Brauch; Kai Schönig; Oliver Mahler-Greiner; Tewfik Miloud; Anna Jauch; Manja Bode; Dean W Felsher; Adam B Glick; David J Kwiatkowski; Hermann Bujard; Jürgen Horst; Magnus von Knebel Doeberitz; Felix K Niggli; Wilhelm Kriz; Hermann-Josef Gröne; Robert Koesters
An efficient and versatile system for acute and chronic modulation of renal tubular function in transgenic mice.
Emmanuel Bissé; Christine Schaeffer; Agnès Hovasse; Sabine Preisler-Adams; Thomas Epting; Manfred Baumstark; Alain Van Dorsselaer; Jürgen Horst; Heinrich Wieland
Haemoglobin Noah Mehmet Oeztuerk (alpha(2) delta(2)143 (H21)His-->Tyr: A novel delta-chain variant in the 2,3-DPG binding site.

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All Publications

2011: Martin Bodner; Bettina Zimmermann; Alexander Röck; Anita Kloss-Brandstätter; David Horst; Basil Horst; Sourideth Sengchanh; Torpong Sanguansermsri; Jürgen Horst; Tanja Krämer; Peter M Schneider; Walther Parson
Southeast Asian diversity: first insights into the complex mtDNA structure of Laos.
BMC evolutionary biology 2011;11():49.
2008: Milena Traykova-Brauch; Kai Schönig; Oliver Mahler-Greiner; Tewfik Miloud; Anna Jauch; Manja Bode; Dean W Felsher; Adam B Glick; David J Kwiatkowski; Hermann Bujard; Jürgen Horst; Magnus von Knebel Doeberitz; Felix K Niggli; Wilhelm Kriz; Hermann-Josef Gröne; Robert Koesters
An efficient and versatile system for acute and chronic modulation of renal tubular function in transgenic mice.
Nature medicine 2008;14(9):979-84.
2008: Emmanuel Bissé; Christine Schaeffer; Agnès Hovasse; Sabine Preisler-Adams; Thomas Epting; Manfred Baumstark; Alain Van Dorsselaer; Jürgen Horst; Heinrich Wieland
Haemoglobin Noah Mehmet Oeztuerk (alpha(2) delta(2)143 (H21)His-->Tyr: A novel delta-chain variant in the 2,3-DPG binding site.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2008;871(1):55-9.
2008: Emmanuel Bissé; Nathalie Zorn; Sabine Preisler-Adams; Thomas Epting; Olaf Sommer; Christine Schaeffer; Alain Van Dorsselaer; Jürgen Horst; Heinrich Wieland
Haemoglobin Hokusetsu [beta52 (D3)] Asp-->Gly in German families associated with inclusion body.
Annals of hematology 2008;87(6):463-6.
2007: A Salin-Cantegrel; Jean-Baptiste Rivière; Nicolas Dupré; François M Charron; Masoud Shekarabi; L Karéméra; Claudia Gaspar; Jürgen Horst; Mustafa Tekin; G Deda; A Krause; M M Lippert; Michèl A A P Willemsen; R Jarrar; Jean-Yves Lapointe; Guy Rouleau
Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.
Neurology 2007;69(13):1350-5.
2007: Jörg Stypmann; Markus A Engelen; Stefan Orwat; Konstantinos Bilbilis; Markus Rothenburger; Lars Eckardt; Wilhelm Haverkamp; Jürgen Horst; Bernd Dworniczak; Petra Pennekamp
Cardiovascular characterization of Pkd2(+/LacZ) mice, an animal model for the autosomal dominant polycystic kidney disease type 2 (ADPKD2).
International journal of cardiology 2007;120(2):158-66.
2007: Martina Grueter; Thomas Grueter; Vaughan Bell; Jürgen Horst; Wolfgang Laskowski; Karl Sperling; Peter W Halligan; Hadyn D Ellis; Ingo Kennerknecht
Hereditary prosopagnosia: the first case series.
Cortex; a journal devoted to the study of the nervous system and behavior 2007;43(6):734-49.
2007: Albena Todorova; Bilyana Georgieva; Ivailo Tournev; Tihomir Todorov; Nadja Bogdanova; Vanio Mitev; Clemens R Mueller; Ivo Kremensky; Jürgen Horst
A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients.
Neurogenetics 2007;8(3):225-9.
2007: Arseni Markoff; Nadja Bogdanova; Markus Knop; Claas Rüffer; Heidi Kenis; Petra Lux; Chris P M Reutelingsperger; Vassil Todorov; Bernd Dworniczak; Jürgen Horst; Volker Gerke
Annexin A5 interacts with polycystin-1 and interferes with the polycystin-1 stimulated recruitment of E-cadherin into adherens junctions.
Journal of molecular biology 2007;369(4):954-66.
2007: Nadja Bogdanova; Jürgen Horst; Marcin Chlystun; Peter J P Croucher; Almut Nebel; Axel Bohring; Albena Todorova; Stefan Schreiber; Volker Gerke; Michael Krawczak; Arseni Markoff
A common haplotype of the annexin A5 (ANXA5) gene promoter is associated with recurrent pregnancy loss.
Human molecular genetics 2007;16(5):573-8.
2007: Bernd Dworniczak; Boris Skryabin; Joëlle Tchinda; Silke Heuck; Franz-Josef Seesing; Daniel Metzger; Pierre Chambon; Jürgen Horst; Petra Pennekamp
Inducible Cre/loxP recombination in the mouse proximal tubule.
Nephron. Experimental nephrology 2007;106(1):e11-20.
2007: Nadja Bogdanova; Arseni Markoff; Roswith Eisert; Cornelia Wermes; Hartmut Pollmann; Albena Todorova; Marcin Chlystun; Ulrike Nowak-Göttl; Jürgen Horst
Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A.
Human mutation 2007;28(1):54-60.
2006: Tanya-Kirilova Kadiyska; RAdka Kaneva; Dimitar-Georgiev Nedin; Alexandrina-Borisova Alexandrova; Antonina-Todorova Gegova; Stoyan-Ganchev Lalchev; Tatyana Christova; Vanio Mitev; Jürgen Horst; Nadja Bogdanova; Ivo Kremensky
Novel MLH1 frameshift mutation in an extended hereditary nonpolyposis colorectal cancer family.
World journal of gastroenterology : WJG 2006;12(48):7848-51.
2006: Eugene Vorobyov; Jürgen Horst
Getting the proto-Pax by the tail.
Journal of molecular evolution 2006;63(2):153-64.
2006: Ingo Kennerknecht; Thomas Grueter; Brigitte Welling; Sebastian Wentzek; Jürgen Horst; Steve Edwards; Martina Grueter
First report of prevalence of non-syndromic hereditary prosopagnosia (HPA).
American journal of medical genetics. Part A 2006;140(15):1617-22.
2006: Vladimir Yurjevich Kuryshev; Eugene Vorobyov; Dorothea Zink; Jürgen Schmitz; Timofey Rozhdestvensky; Ewald Münstermann; Ute Ernst; Ruth Wellenreuther; Petra Moosmayer; Stephanie Bechtel; Ingo Schupp; Jürgen Horst; Bernhard Korn; Annemarie Poustka; Stefan Wiemann
An anthropoid-specific segmental duplication on human chromosome 1q22.
Genomics 2006;88(2):143-51.
2006: Joëlle Tchinda; Sarah Volpert; Wolfgang E Berdel; Thomas Büchner; Jürgen Horst
Novel three-break rearrangement and cryptic translocations leading to colocalization of MYC and IGH signals in B-cell acute lymphoblastic leukemia.
Cancer genetics and cytogenetics 2006;165(2):180-4.
2005: Karl Hackmann; Arseni Markoff; Feng Qian; Nadja Bogdanova; Gregory G Germino; Petra Pennekamp; Bernd Dworniczak; Jürgen Horst; Volker Gerke
A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1.
Human molecular genetics 2005;14(21):3249-62.
2005: Nadja Bogdanova; Arseni Markoff; Hartmut Pollmann; Ulrike Nowak-Göttl; Roswith Eisert; Cornelia Wermes; Albena Todorova; Antonin Eigel; Bernd Dworniczak; Jürgen Horst
Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A.
Human mutation 2005;26(3):249-54.
2004: Daniela Ehling; Ingo Kennerknecht; Annelore Junge; Bettina Prager; Rita Exeler; Beate Behre; Jürgen Horst; Thomas Schmitt-John; Oliver Bartsch; Jutta Wirth
Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies.
American journal of medical genetics. Part A 2004;131(3):265-72.
2004: Joëlle Tchinda; Sarah Volpert; Martin Kropff; Wolfgang E Berdel; Joachim Kienast; Friedhelm Meinhardt; Jürgen Horst
Frequent gains of the short arm of chromosome 9 in multiple myeloma with normal G-banded karyotype detected by comparative genomic hybridization.
American journal of clinical pathology 2004;122(6):875-82.
2004: Eugene Vorobyov; Jürgen Horst
Expression of two protein isoforms of PAX7 is controlled by competing cleavage-polyadenylation and splicing.
Gene 2004;342(1):107-12.
2004: Joëlle Tchinda; Thomas E Neumann; Sarah Volpert; Wolfgang E Berdel; Thomas Büchner; Jürgen Horst
Characterization of chromosomal rearrangements in hematological diseases using spectral karyotyping.
Diagnostic molecular pathology : the American journal of surgical pathology, part B 2004;13(3):190-5.
2004: Torpong Sanguansermsri; Sourideth Sengchanh; David Horst; Antonin Eigel; Gebhard Flatz; Jürgen Horst
The Southeast Asian 12.5 KB (delta-beta) degrees-deletion: a common beta-thalassemia in Mon-Khmer groups (Lao Theung) of South Laos.
Haematologica 2004;89(8):ECR29.
2004: Gebhard Flatz; Torpong Sanguansermsri; Sourideth Sengchanh; David Horst; Jürgen Horst
The 'hot-spot' of Hb E [beta26(B8)Glu-->Lys] in Southeast Asia: beta-globin anomalies in the Lao Theung population of southern Laos.
Hemoglobin 2004;28(3):197-204.
2004: Joëlle Tchinda; Trijnie Dijkhuizen; Pieter van der Vlies Pv; Klaas Kok; Jürgen Horst
Translocations involving 6p22 in acute myeloid leukaemia at relapse: breakpoint characterization using microarray-based comparative genomic hybridization.
British journal of haematology 2004;126(4):495-500.
2004: Joëlle Tchinda; Sarah Volpert; Rüdiger Liersch; Michael Zühlsdorf; Hubert Serve; T Neumann; Ingo Kennerknecht; Wolfgang E Berdel; Thomas Büchner; Jürgen Horst
A cryptic insertion (17;15) on both chromosomes 17 with lack of PML-RARA expression in a case of atypical acute promyelocytic leukemia.
Leukemia 2004;18(1):183-6.
2003: Joëlle Tchinda; Sarah Volpert; Nicole McNeil; Thomas Neumann; Ingo Kennerknecht; Thomas Ried; Thomas Büchner; Hubert Serve; Wolfgang E Berdel; Jürgen Horst; Eva Hilgenfeld
Multicolor karyotyping in acute myeloid leukemia.
Leukemia & lymphoma 2003;44(11):1843-53.
2003: Thomas Boettger; Marco B Rust; Hannes Maier; Thomas Seidenbecher; Michaela Schweizer; Damien J Keating; Jörg Faulhaber; Heimo Ehmke; Carsten Pfeffer; Olaf Scheel; Beate Lemcke; Jürgen Horst; Rudolf Leuwer; Hans-Christian Pape; Harald Völkl; Christian A Hübner; Thomas J Jentsch
Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold.
The EMBO journal 2003;22(20):5422-34.
2003: Georg Hülskamp; Dagmar Wieczorek; Harald Rieder; Frank Louwen; Isabel Hörnig-Franz; Christian H Rickert; Jürgen Horst; Erik Harms; Helga Rehder
Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome.
Clinical dysmorphology 2003;12(3):153-60.
2003: Toshifumi Ozaki; Thomas Neumann; Daniel Wai; Karl-Ludwig Schäfer; Frans van Valen; Norbert Lindner; Christina Scheel; Werner Böcker; Winfried Winkelmann; Barbara Dockhorn-Dworniczak; Jürgen Horst; Christopher Poremba
Chromosomal alterations in osteosarcoma cell lines revealed by comparative genomic hybridization and multicolor karyotyping.
Cancer genetics and cytogenetics 2003;140(2):145-52.
2003: Axel Kamischke; Arthur Baumgardt; Jürgen Horst; Eberhard Nieschlag
Clinical and diagnostic features of patients with suspected Klinefelter syndrome.
Journal of andrology 2003;24(1):41-8.
2002: Heidi C Howard; David B Mount; Daniel Rochefort; Nellie Byun; Nicolas Dupré; Jianming Lu; Xuemo Fan; Luyan Song; Jean-Baptiste Rivière; Claude Prévost; Jürgen Horst; Alessandro Simonati; Beate Lemcke; Rick Welch; Roger England; Frank Q Zhan; Adriana Mercado; William B Siesser; Alfred L George; Michael P McDonald; Jean-Pierre Bouchard; Jean Mathieu; Eric Delpire; Guy Rouleau
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
Nature genetics 2002;32(3):384-92.
2002: Hans-Dieter Rott; Beate Lemcke; Martin Zenker; Walter J Huk; Jürgen Horst; Karin Mayer
Cyst-like cerebral lesions in tuberous sclerosis.
American journal of medical genetics 2002;111(4):435-9.
2002: Nadja Bogdanova; Arseni Markoff; Hartmut Pollmann; Ulrike Nowak-Göttl; Roswith Eisert; Bernd Dworniczak; Antonin Eigel; Jürgen Horst
Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A.
Human mutation 2002;20(3):236-7.
2002: Theresa M Marteau; Irmgard Nippert; Sue Hall; Caroline Limbert; Margaret Reid; Martin Bobrow; Alan Cameron; Martina C Cornel; Mariet van Diem; Bernd Eiben; Sixto García-Miñaur; Janine Goujard; Donna Kirwan; Karen McIntosh; Peter Soothill; Corien Verschuuren-Bemelmans; Catherine de Vigan; Stephen Walkinshaw; Lenore Abramsky; Frank Louwen; Peter Miny; Jürgen Horst
Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals.
Prenatal diagnosis 2002;22(7):562-6.
2002: Petra Pennekamp; Christina Karcher; Anja Fischer; Axel Schweickert; Boris Skryabin; Jürgen Horst; Martin Blum; Bernd Dworniczak
The ion channel polycystin-2 is required for left-right axis determination in mice.
Current biology : CB 2002;12(11):938-43.
2002: Marie McCluskey; Tina Schiavello; Michael Hunter; Janina Hantke; Dora Angelicheva; Nadja Bogdanova; Arseni Markoff; Mark Thomas; Bernd Dworniczak; Jürgen Horst; Luba Kalaydjieva
Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.
Human mutation 2002;19(3):240-50.
2002: Joëlle Tchinda; Sarah Volpert; Thomas Neumann; Ingo Kennerknecht; Jörg Ritter; Thomas Büchner; Wolfgang E Berdel; Jürgen Horst
Novel der(1)t(1;19) in two patients with myeloid neoplasias.
Cancer genetics and cytogenetics 2002;133(1):61-5.
2002: Nadja Bogdanova; Arseni Markoff; Jürgen Horst
Autosomal dominant polycystic kidney disease - clinical and genetic aspects.
Kidney & blood pressure research 2002;25(5):265-83.
2002: Nadja Bogdanova; Beate Lemcke; Arseni Markoff; Hartmut Pollmann; Bernd Dworniczak; Antonin Eigel; Jürgen Horst
Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.
Human mutation 2002;19(1):84.
2001: Nadja Bogdanova; Beate Lemcke; Arseni Markoff; Hartmut Pollmann; Bernd Dworniczak; Antonin Eigel; Jürgen Horst
Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.
Human mutation 2001;18(6):546.
2001: Tina Schiavello; V Burke; Nadja Bogdanova; P Jasik; S Melsom; N Boudville; K Robertson; Dora Angelicheva; Bernd Dworniczak; M Lemmens; Jürgen Horst; Vassil Todorov; D Dimitrakov; Wladyslaw Sulowicz; Andrzej Krasniak; T Stompor; L Beilin; Joachim Hallmayer; Luba Kalaydjieva; Mark Thomas
Angiotensin-converting enzyme activity and the ACE Alu polymorphism in autosomal dominant polycystic kidney disease.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2001;16(12):2323-7.
2001: May Fouad Sadiq; Antonin Eigel; Jürgen Horst
Spectrum of beta-thalassemia in Jordan: identification of two novel mutations.
American journal of hematology 2001;68(1):16-22.
2001: C Bartsch; M Aslan; J Köhler; Peter Miny; Jürgen Horst; Wolfgang Holzgreve; Helga Rehder; Barbara Fritz
Duplication dup(1)(q32q44) detected by comparative genomic hybridization (CGH): further delineation of trisomies 1q.
Fetal diagnosis and therapy 2001;16(5):265-73.
2001: Barbara Sonntag; D Meschede; V Ullmann; Paul Gassner; Jürgen Horst; Eberhard Nieschlag; Hermann M Behre
Low-level sex chromosome mosaicism in female partners of couples undergoing ICSI therapy does not significantly affect treatment outcome.
Human reproduction (Oxford, England) 2001;16(8):1648-52.
2001: Nadja Bogdanova; Arseni Markoff; Volker Gerke; Marie McCluskey; Jürgen Horst; Bernd Dworniczak
Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes.
Genomics 2001;74(3):333-41.
2001: Eva Hilgenfeld; Hesed Padilla-Nash; Nicole McNeil; Turid Knutsen; Cristina Montagna; Joëlle Tchinda; Jürgen Horst; W D Ludwig; Hubert Serve; Thomas Büchner; Wolfgang E Berdel; E Schröck; Thomas Ried
Spectral karyotyping and fluorescence in situ hybridization detect novel chromosomal aberrations, a recurring involvement of chromosome 21 and amplification of the MYC oncogene in acute myeloid leukaemia M2.
British journal of haematology 2001;113(2):305-17.
2000: D Meschede; S Albersmann; Jürgen Horst
The practical importance of pedigree analysis in women considering invasive prenatal diagnosis for advanced maternal age or abnormal serum screening tests.
Prenatal diagnosis 2000;20(11):865-9.
2000: K Wilke; B Duman; Jürgen Horst
Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR.
Human mutation 2000;16(5):431-6.
2000: Ulrike Peters; Sabine Preisler-Adams; A Hebeisen; M Hahn; Eberhard Seifert; Claudia Lanvers; Achim Heinecke; Jürgen Horst; Heribert Jürgens; Antoinette Lamprecht-Dinnesen
Glutathione S-transferase genetic polymorphisms and individual sensitivity to the ototoxic effect of cisplatin.
Anti-cancer drugs 2000;11(8):639-43.
2000: D Meschede; Beate Lemcke; Hermann M Behre; C D Geyter; Eberhard Nieschlag; Jürgen Horst
Non-reproductive heritable disorders in infertile couples and their first degree relatives.
Human reproduction (Oxford, England) 2000;15(7):1609-12.
2000: D Meschede; Beate Lemcke; Hermann M Behre; C De Geyter; Eberhard Nieschlag; Jürgen Horst
Clustering of male infertility in the families of couples treated with intracytoplasmic sperm injection.
Human reproduction (Oxford, England) 2000;15(7):1604-8.
2000: Sigrid von Eckardstein; Trevor G Cooper; K Rutscha; D Meschede; Jürgen Horst; Eberhard Nieschlag
Seminal plasma characteristics as indicators of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in men with obstructive azoospermia.
Fertility and sterility 2000;73(6):1226-31.
2000: S Kleier; M Herrmann; B Wittwer; R Varon; André Reis; Jürgen Horst
Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome.
Clinical genetics 2000;57(5):384-7.
2000: Nadja Bogdanova; Marie McCluskey; K Sikmann; Arseni Markoff; Vassil Todorov; D Dimitrakov; Tina Schiavello; Mark Thomas; Luba Kalaydjieva; Bernd Dworniczak; Jürgen Horst
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.
Human mutation 2000;16(2):166-74.
2000: D Meschede; Bernd Dworniczak; Hermann M Behre; Eberhard Nieschlag; Jürgen Horst
No evidence for uniparental disomy of the sex chromosomes in idiopathic male infertility.
Molecular human reproduction 2000;6(1):1-4.
1999: K Tavassoli; Antonin Eigel; Jürgen Horst
A deletion/insertion leading to the generation of a direct repeat as a result of slipped mispairing and intragenic recombination in the factor VIII gene.
Human genetics 1999;104(5):435-7.
1999: K Möller-Morlang; K Tavassoli; Antonin Eigel; Hartmut Pollmann; Jürgen Horst
Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation. Mutations in brief no. 245. Online.
Human mutation 1999;13(6):504.
1999: Christian Brinkmann; Peter Forster; M Schürenkamp; Jürgen Horst; Burkhard Rolf; Bernd Brinkmann
Human Y-chromosomal STR haplotypes in a Kurdish population sample.
International journal of legal medicine 1999;112(3):181-3.
1999: Gebhard Flatz; K Wilke; Yana V Syagailo; Antonin Eigel; Jürgen Horst
Beta-thalassemia in the German population: mediterranean, Asian and novel mutations. Mutations in brief no.228. Online.
Human mutation 1999;13(3):258.
1998: D Meschede; Rita Exeler; B Wittwer; Jürgen Horst
Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p.
American journal of medical genetics 1998;80(5):443-7.
1998: D Meschede; Frank Louwen; Irmgard Nippert; Wolfgang Holzgreve; Peter Miny; Jürgen Horst
Low rates of pregnancy termination for prenatally diagnosed Klinefelter syndrome and other sex chromosome polysomies.
American journal of medical genetics 1998;80(4):330-4.
1998: K Gaudenz; Erich Roessler; NA Quaderi; Brunella Franco; G Feldman; D L Gasser; B Wittwer; Jürgen Horst; Eugenio Montini; John M Opitz; Andrea Ballabio; Maximilian Muenke
Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.
American journal of human genetics 1998;63(3):703-10.
1998: Petra Pennekamp; Nadja Bogdanova; Monika Wilda; Arseni Markoff; Horst Hameister; Jürgen Horst; Bernd Dworniczak
Characterization of the murine polycystic kidney disease (Pkd2) gene.
Mammalian genome : official journal of the International Mammalian Genome Society 1998;9(9):749-52.
1998: B Koppers; Paul Gassner; D Meschede; Jürgen Horst; Hermann M Behre; Eberhard Nieschlag
Prognostic value of male diagnostic profiles in intracytoplasmic sperm injection (ICSI).
International journal of andrology 1998;21(4):227-32.
1998: D Meschede; Beate Lemcke; Julia Stüssel; Frank Louwen; Jürgen Horst
Strong preference for non-invasive prenatal diagnosis in women pregnant through intracytoplasmic sperm injection (ICSI)
Prenatal diagnosis 1998;18(7):700-5.
1998: Burkhard Rolf; B Horst; Antonin Eigel; T Sagansermsri; Bernd Brinkmann; Jürgen Horst
Microsatellite profiles reveal an unexpected genetic relationship between Asian populations.
Human genetics 1998;102(6):647-52.
1998: Arseni Markoff; H Sormbroen; Nadja Bogdanova; Sabine Preisler-Adams; Varban S Ganev; Bernd Dworniczak; Jürgen Horst
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.
European journal of human genetics : EJHG 1998;6(2):145-50.
1998: D Meschede; Beate Lemcke; J R Exeler; C De Geyter; Hermann M Behre; Eberhard Nieschlag; Jürgen Horst
Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection--prevalence, types, sex distribution and reproductive relevance.
Human reproduction (Oxford, England) 1998;13(3):576-82.
1998: Yana V Syagailo; K Wilke; Olga Okladnova; Antonin Eigel; M Lemmens; V Kramarov; Jürgen Horst
Different ocular abnormalities in individuals of a three-generation family caused by a new nonsense mutation in the PST domain of the PAX6 gene. Mutations in brief no. 189. Online.
Human mutation 1998;12(4):288.
1998: K Tavassoli; Antonin Eigel; K Wilke; Hartmut Pollmann; Jürgen Horst
Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping.
Human mutation 1998;12(5):301-3.
1998: D Meschede; Bernd Dworniczak; Eberhard Nieschlag; Jürgen Horst
Genetic diseases of the seminal ducts.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1998;52(5):197-203.
1998: D Meschede; Sabine Kliesch; Jürgen Horst; Eberhard Nieschlag
Azoospermia and segmentation abnormalities of the cervicothoracic spine ('MURCS in the male').
Clinical dysmorphology 1998;7(1):59-60.
1998: K Tavassoli; Antonin Eigel; Bernd Dworniczak; E Valtseva; Jürgen Horst
Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC).
Human mutation 1998;Suppl 1():S260-2.
1997: K Tavassoli; W Rüger; Jürgen Horst
Alternative splicing in PAX2 generates a new reading frame and an extended conserved coding region at the carboxy terminus.
Human genetics 1997;101(3):371-5.
1997: D Meschede; Bernd Dworniczak; Hermann M Behre; Sabine Kliesch; M Claustres; Eberhard Nieschlag; Jürgen Horst
CFTR gene mutations in men with bilateral ejaculatory-duct obstruction and anomalies of the seminal vesicles.
American journal of human genetics 1997;61(5):1200-2.
1997: K Tavassoli; Antonin Eigel; Hartmut Pollmann; Jürgen Horst
Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations.
Human genetics 1997;100(5-6):508-11.
1997: Eugene Vorobyov; I Mertsalov; B Dockhorn-Dworniczak; Bernd Dworniczak; Jürgen Horst
The genomic organization and the full coding region of the human PAX7 gene.
Genomics 1997;45(1):168-74.
1997: D Meschede; Frank Louwen; Bernd Eiben; Jürgen Horst
Intracytoplasmic sperm injection pregnancy with fetal trisomy 9p resulting from a balanced paternal translocation.
Human reproduction (Oxford, England) 1997;12(9):1913-4.
1997: Thilo Dörk; Bernd Dworniczak; Christa Aulehla-Scholz; Dagmar Wieczorek; I Böhm; A Mayerova; H H Seydewitz; Eberhard Nieschlag; D Meschede; Jürgen Horst; H J Pander; H Sperling; F Ratjen; Eberhard Passarge; Jörg Schmidtke; Manfred Stuhrmann
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.
Human genetics 1997;100(3-4):365-77.
1997: Olga Okladnova; Andrej Poleev; J Fantes; M Lee; D Plachov; Jürgen Horst
The genomic organization of the murine Pax 8 gene and characterization of its basal promoter.
Genomics 1997;42(3):452-61.
1997: D Meschede; Jürgen Horst
Sex chromosomal anomalies in pregnancies conceived through intracytoplasmic sperm injection: a case for genetic counselling.
Human reproduction (Oxford, England) 1997;12(6):1125-7.
1997: D Meschede; Jürgen Horst
The molecular genetics of male infertility.
Molecular human reproduction 1997;3(5):419-30.
1997: Manuela Simoni; Jörg Gromoll; Bernd Dworniczak; Claus Rolf; K Abshagen; Axel Kamischke; C Carani; D Meschede; Hermann M Behre; Jürgen Horst; Eberhard Nieschlag
Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia.
Fertility and sterility 1997;67(3):542-7.
1997: D Meschede; Jürgen Horst
Genetic counselling for infertile male patients.
International journal of andrology 1997;20 Suppl 3():20-30.
1997: Irmgard Nippert; Jürgen Horst; Jörg Schmidtke
Genetic services in Germany.
European journal of human genetics : EJHG 1997;5 Suppl 2():81-8.
1996: D Meschede; Claus Rolf; D C Neugebauer; Jürgen Horst; Eberhard Nieschlag
Sperm acrosome defects in a patient with Aarskog-Scott syndrome.
American journal of medical genetics 1996;66(3):340-2.
1996: M Lemmens-Zygulska; Antonin Eigel; B Helbig; Torpong Sanguansermsri; Jürgen Horst; G Flatz
Prevalence of alpha-thalassemias in northern Thailand.
Human genetics 1996;98(3):345-7.
1996: H Rabe; T Brune; Rainer Rossi; V Steinhorst; Gerhard Jorch; Jürgen Horst; B Wittwer
Yunis-Varon syndrome: the first case of German origin.
Clinical dysmorphology 1996;5(3):217-22.
1996: Burkhard Tümmler; T Storrs; V Dziadek; Thilo Dörk; Thomas Meitinger; Astrid Golla; R M Bertele-Harms; H K Harms; E Schröder; A Claass; J Rutjes; Reinhard Schneppenheim; I Bauer; K Breuel; Manfred Stuhrmann; Jörg Schmidtke; M Lindner; Antonin Eigel; Jürgen Horst; R Kaiser; M J Lentze; K Schmidt; H von der Hardt; Xavier Estivill
Geographic distribution and origin of CFTR mutations in Germany.
Human genetics 1996;97(6):727-31.
1995: D Meschede; Christian De Geyter; Eberhard Nieschlag; Jürgen Horst
Genetic risk in micromanipulative assisted reproduction.
Human reproduction (Oxford, England) 1995;10(11):2880-6.
1995: D Meschede; T Nekarda; D Kececioglu; H Löser; J Vogt; Peter Miny; Jürgen Horst
Congenital heart disease in the 48,XXYY syndrome.
Clinical genetics 1995;48(2):100-2.
1995: Nadja Bogdanova; Bernd Dworniczak; D Dragova; V Todorov; Dimitar J Dimitrakov; K Kalinov; Joachim Hallmayer; Jürgen Horst; Luba Kalaydjieva
Genetic heterogeneity of polycystic kidney disease in Bulgaria.
Human genetics 1995;95(6):645-50.
1995: Peter Miny; B Koppers; Bernd Dworniczak; Nadja Bogdanova; Wolfgang Holzgreve; Sevgi Tercanli; S Basaran; H Rehder; R Exeler; Jürgen Horst
Parental origin of the extra haploid chromosome set in triploidies diagnosed prenatally.
American journal of medical genetics 1995;57(1):102-6.
1995: S Köchling; J T den Dunnen; Bernd Dworniczak; Jürgen Horst
Two polymorphic dinucleotide repeats in intron 44 of the dystrophin gene.
Human genetics 1995;95(4):475-7.
1994: D Meschede; Hermann M Behre; Eberhard Nieschlag; Jürgen Horst
[The Kallmann syndrome. Its pathophysiology and clinical picture].
Deutsche medizinische Wochenschrift (1946) 1994;119(42):1436-42.
1994: M Zygulska; Antonin Eigel; J J Pietrzyk; Jürgen Horst
Phenylketonuria in southern Poland: a new splice mutation in intron 9 at the PAH locus.
Human mutation 1994;4(4):297-9.
1994: J Weidner; Antonin Eigel; Jürgen Horst; W Köhnlein
Nonisotopic detection of mutations using a modified single-strand conformation polymorphism analysis.
Human mutation 1994;4(1):55-6.
1993: H Steger; Antonin Eigel; G Flatz; Jürgen Horst
Hemoglobin E and codon 17 nonsense: two beta-globin gene mutations common in Southeast Asia detected by the use of ARMS.
Annals of hematology 1993;67(3):119-20.
1993: D Meschede; C Keck; Christian De Geyter; Antonin Eigel; Jürgen Horst; Eberhard Nieschlag
[Mutation in the cystic fibrosis transmembrane-regulator gene in bilateral congenital ductus deferens aplasia].
Deutsche medizinische Wochenschrift (1946) 1993;118(18):661-4.
1993: W Lenz; M Zygulska; Jürgen Horst
FFU complex: an analysis of 491 cases.
Human genetics 1993;91(4):347-56.
1993: M Zygulska; Antonin Eigel; J J Pietrzyk; Jürgen Horst
Phenylalanine hydroxylase gene: a novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria.
Human mutation 1993;2(3):238-9.
1993: M Zygulska; Antonin Eigel; J J Pietrzyk; Peter Miny; Jürgen Horst
A novel mutation in exon 8 of the phenylalanine hydroxylase gene in the Polish population.
Human mutation 1993;2(1):74-6.
1992: Bernd Dworniczak; B Koppers; G Kurlemann; Wolfgang Holzgreve; Jürgen Horst; Peter Miny
Uniparental disomy with normal phenotype.
Lancet 1992;340(8830):1285.
1992: D Gänshirt-Ahlert; M Burschyk; Henk Garritsen; L Helmer; Peter Miny; Jürgen Horst; H P G Schneider; Wolfgang Holzgreve
Magnetic cell sorting and the transferrin receptor as potential means of prenatal diagnosis from maternal blood.
American journal of obstetrics and gynecology 1992;166(5):1350-5.
1992: Luba Kalaydjieva; Bernd Dworniczak; Ivo Kremensky; K Koprivarova; B Radeva; R Milusheva; C Aulehla-Scholz; Jürgen Horst
Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles.
Clinical genetics 1992;41(3):123-8.
1992: R Schloo; Peter Miny; Wolfgang Holzgreve; Jürgen Horst; W Lenz
Distal limb deficiency following chorionic villus sampling?
American journal of medical genetics 1992;42(3):404-13.
1992: Bernd Dworniczak; Luba Kalaydjieva; S Pankoke; C Aulehla-Scholz; G Allen; Jürgen Horst
Analysis of exon 7 of the human phenylalanine hydroxylase gene: a mutation hot spot?
Human mutation 1992;1(2):138-46.
1991: M Zygulska; Antonin Eigel; Bernd Dworniczak; A Sutkowska; J J Pietrzyk; Jürgen Horst
Phenylketonuria in Poland: 66% of PKU alleles are caused by three mutations.
Human genetics 1991;88(1):91-4.
1991: Bernd Dworniczak; C Aulehla-Scholz; Luba Kalaydjieva; K Bartholomé; K Grudda; Jürgen Horst
Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe.
Genomics 1991;11(2):242-6.
1991: Luba Kalaydjieva; Bernd Dworniczak; C Aulehla-Scholz; M Devoto; Giovanni Romeo; M Sturhmann; V Kucinskas; V Yurgelyavicius; Jürgen Horst
Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria.
Journal of medical genetics 1991;28(10):686-90.
1991: Antonin Eigel; Bernd Dworniczak; Luba Kalaydjieva; Jürgen Horst
A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1.
Human genetics 1991;87(6):739-41.
1991: Bernd Dworniczak; Luba Kalaydjieva; C Aulehla-Scholz; Kurt Ullrich; Ivo Kremensky; B Radeva; Jürgen Horst
Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene.
Human genetics 1991;87(6):731-3.
1991: Peter Miny; P Hammer; R Schloo; Jürgen Horst; Sevgi Tercanli; B Gerlach; Wolfgang Holzgreve
[Prenatal diagnosis with chorionic villi and placenta puncture biopsy in the 1st to 3d trimester of pregnancy: diagnostic value of chromosome studies].
Geburtshilfe und Frauenheilkunde 1991;51(9):694-703.
1991: Peter Miny; P Hammer; B Gerlach; Sevgi Tercanli; Jürgen Horst; Wolfgang Holzgreve; B Eiben
Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies.
Prenatal diagnosis 1991;11(8):581-9.
1991: Luba Kalaydjieva; Bernd Dworniczak; C Aulehla-Scholz; M Devoto; Giovanni Romeo; Manfred Stuhrmann; Jürgen Horst
Phenylketonuria mutation in southern Europeans.
Lancet 1991;337(8745):865.
1991: K Rezai; Wolfgang Holzgreve; R Schloo; Sevgi Tercanli; Jürgen Horst; Peter Miny
[Prenatal chromosome findings in sonographically conspicuous fetuses].
Geburtshilfe und Frauenheilkunde 1991;51(3):211-6.
1991: P Hammer; Wolfgang Holzgreve; Z Karabacak; Jürgen Horst; Peter Miny
'False-negative' and 'false-positive' prenatal cytogenetic results due to 'true' mosaicism.
Prenatal diagnosis 1991;11(2):133-6.
1991: Luba Kalaydjieva; Bernd Dworniczak; V Kucinskas; V Yurgeliavicius; E Kunert; Jürgen Horst
Geographical distribution gradients of the major PKU mutations and the linked haplotypes.
Human genetics 1991;86(4):411-3.
1991: Bernd Dworniczak; K Grudda; J Stümper; K Bartholomé; C Aulehla-Scholz; Jürgen Horst
Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.
Genomics 1991;9(1):193-9.
1991: M Zygulska; Antonin Eigel; C Aulehla-Scholz; J J Pietrzyk; Jürgen Horst
Molecular analysis of PKU haplotypes in the population of southern Poland.
Human genetics 1991;86(3):292-4.
1990: Luba Kalaydjieva; Bernd Dworniczak; C Aulehla-Scholz; Ivo Kremensky; J Bronzova; Antonin Eigel; Jürgen Horst
Classical phenylketonuria in Bulgaria: RFLP haplotypes and frequency of the major mutations.
Journal of medical genetics 1990;27(12):742-5.
1990: Bernd Dworniczak; C Aulehla-Scholz; Jürgen Horst
Phenylalanine hydroxylase gene: silent mutation uncovers evolutionary origin of different alleles.
Clinical genetics 1990;38(4):270-3.
1990: C Aulehla-Scholz; R Kaiser; J Weber; O Pivetta; Antonin Eigel; Bernd Dworniczak; K Olek; Jürgen Horst
The frequency of the CF delta F508 deletion in CF chromosomes of different ethnic origin.
Human genetics 1990;85(4):392-3.
1990: Luba Kalaydjieva; J Antov; J Bronzova; V Vladimirova; Jürgen Horst
Molecular data on cystic fibrosis in Bulgaria.
Human genetics 1990;85(4):412-3.
1990: D Gänshirt-Ahlert; M Pohlschmidt; A Gal; Peter Miny; Jürgen Horst; Wolfgang Holzgreve
Ratio of fetal to maternal DNA is less than 1 in 5000 at different gestational ages in maternal blood.
Clinical genetics 1990;38(1):38-43.
1990: Wolfgang Holzgreve; D Gänshirt-Ahlert; M Burschyk; Jürgen Horst; Peter Miny; A Gal; M Pohlschmidt
Detection of fetal DNA in maternal blood by PCR.
Lancet 1990;335(8699):1220-1.
1990: Wolfgang Holzgreve; Peter Miny; B Gerlach; A Westendorp; D Ahlert; Jürgen Horst
Benefits of placental biopsies for rapid karyotyping in the second and third trimesters (late chorionic villus sampling) in high-risk pregnancies.
American journal of obstetrics and gynecology 1990;162(5):1188-92.
1990: J Schnee; C Aulehla-Scholz; Antonin Eigel; Jürgen Horst
Hb D Los Angeles (D-Punjab) and Hb Presbyterian: analysis of the defect at the DNA level.
Human genetics 1990;84(4):365-7.
1990: D Gänshirt-Ahlert; M Pohlschmidt; A Gal; Jürgen Horst; Peter Miny; Wolfgang Holzgreve
Transabdominal placental biopsy in the second and third trimesters of pregnancy: what is the risk of maternal contamination in DNA diagnosis?
Obstetrics and gynecology 1990;75(3 Pt 1):320-3.
1990: Wolfgang Holzgreve; E Sevinchan; Elisabeth Kohne; S Sevinchan; Peter Miny; Jürgen Horst
Beta-thalassemia problems in the Turkish population in the F.R.G.
European journal of obstetrics, gynecology, and reproductive biology 1990;34(1-2):137-47.
1990: C Aulehla-Scholz; S Basaran; Leyla Agaoglu; A Arcasoy; Wolfgang Holzgreve; Peter Miny; F Ridolfi; Jürgen Horst
Molecular basis of beta-thalassemia in Turkey: detection of rare mutations by direct sequencing.
Human genetics 1990;84(2):195-7.
1989: Bernd Dworniczak; C Aulehla-Scholz; Jürgen Horst
Phenylketonuria: detection of a frequent haplotype 4 allele mutation.
Human genetics 1989;84(1):95-6.
1989: J Schnee; Antonin Eigel; Jürgen Horst
Direct mutation analysis of beta-thalassemia genes in families of various ethnic origins residing in Germany.
Blut 1989;59(3):237-9.
1989: M Higuchi; L Kochhan; Rainer Schwaab; H Egli; Hans H Brackmann; Jürgen Horst; K Olek
Molecular defects in hemophilia A: identification and characterization of mutations in the factor VIII gene and family analysis.
Blood 1989;74(3):1045-51.
1989: M Ludwig; Rainer Schwaab; A Eigel; Jürgen Horst; H Egli; Hans H Brackmann; K Olek
Identification of a single nucleotide C-to-T transition and five different deletions in patients with severe hemophilia B.
American journal of human genetics 1989;45(1):115-22.
1989: J Schnee; E U Griese; Antonin Eigel; Jürgen Horst
Beta-thalassemia gene analysis in a Turkish family reveals a 7 BP deletion in the coding region.
Blood 1989;73(8):2224-5.
1989: Peter Miny; S Basaran; I H Pawlowitzki; Jürgen Horst; A Westendorp; W Niedner; Wolfgang Holzgreve
Validity of cytogenetic analyses from trophoblast tissue throughout gestation.
American journal of medical genetics 1989;33(1):136-41.
1989: R Spiegelberg; C Aulehla-Scholz; Henry A Erlich; Jürgen Horst
A beta-thalassemia gene caused by a 290-base pair deletion: analysis by direct sequencing of enzymatically amplified DNA.
Blood 1989;73(6):1695-8.
1989: Antonin Eigel; J Schnee; R Oehme; Jürgen Horst
Mutation analysis of beta-thalassemia genes in a German family reveals a rare transversion in the first intron.
Human genetics 1989;81(4):371-2.
1989: C Aulehla-Scholz; R Spiegelberg; Peter Miny; W Holzgreve; Antonin Eigel; Bernd Dworniczak; Jürgen Horst
Direct sequencing of amplified DNA in prenatal diagnosis of beta-thalassaemia.
Lancet 1989;1(8633):326-7.
1989: C Aulehla-Scholz; R Spiegelberg; Jürgen Horst
A beta-thalassemia mutant caused by a 300-bp deletion in the human beta-globin gene.
Human genetics 1989;81(3):298-9.
1989: C Aulehla-Scholz; Peter Miny; W Holzgreve; J T Epplen; Jürgen Horst
A pitfall in the prenatal diagnosis of beta-thalassaemia by RFLP.
Prenatal diagnosis 1989;9(2):140-1.
1988: J Weber; C Aulehla-Scholz; R Kaiser; Antonin Eigel; M Neugebauer; Jürgen Horst; K Olek
Cystic fibrosis: typing 89 German families with linked DNA probes.
Human genetics 1988;81(1):54-6.
1988: Peter Miny; S Basaran; Wolfgang Holzgreve; Jürgen Horst; I H Pawlowitzki; T K Ngo
False negative cytogenetic result in direct preparations after CVS.
Prenatal diagnosis 1988;8(8):633.
1988: Rainer Schwaab; Johannes Oldenburg; M Higuchi; M Ludwig; L Kochhan; Jürgen Horst; Hans H Brackmann; H Egli; K Olek
Haemophilia A: carrier detection by DNA analysis.
Blut 1988;57(2):85-90.
1988: D Glaser; Ulrich Bosse; F Kahlert; Jürgen Horst
[The acardius amorphus].
Geburtshilfe und Frauenheilkunde 1988;48(6):456-8.
1988: Jürgen Horst; R Oehme; J T Epplen; Elisabeth Kohne
Haemoglobin Freiburg: direct detection by synthetic oligonucleotide probes.
Human genetics 1988;79(2):172-4.
1988: S Basaran; Peter Miny; I H Pawlowitzki; Jürgen Horst; Wolfgang Holzgreve
Rapid karyotyping for prenatal diagnosis in the second and third trimesters of pregnancy.
Prenatal diagnosis 1988;8(4):315-20.
1988: C Aulehla-Scholz; M Vorgerd; E Sautter; D Leupold; R Mahlmann; Kurt Ullrich; K Olek; Jürgen Horst
Phenylketonuria: distribution of DNA diagnostic patterns in German families.
Human genetics 1988;78(4):353-5.
1987: Wolfgang Holzgreve; C Aulehla-Scholz; E U Griese; R Oehme; Peter Miny; Jürgen Horst
[Experiences with prenatal diagnosis of sickle cell anemia and thalassemias in the first trimester of pregnancy: various aspects for the obstetrician].
Geburtshilfe und Frauenheilkunde 1987;47(8):533-6.
1987: Jürgen Horst; G Assum; E U Griese; Antonin Eigel; W Hampl; Elisabeth Kohne
Hemoglobin M Iwate is caused by a C----T transition in codon 87 of the human alpha 1-globin gene.
Human genetics 1987;75(1):53-5.
1986: Jürgen Horst; R Oehme; Elisabeth Kohne
Hemoglobin Köln: direct analysis of the gene mutation by synthetic DNA probes.
Blood 1986;68(5):1175-7.
1985: R Oehme; Elisabeth Kohne; Jürgen Horst
DNA-polymorphic patterns linked to the beta-globin genes in German families affected with hemoglobinopathies and thalassemias: a comparison to other ethnic groups.
Human genetics 1985;71(3):219-22.
1985: E U Griese; Elisabeth Kohne; Jürgen Horst
Heterogeneity of the alpha-globin gene defects in German alpha-thalassemia affected families.
Human genetics 1985;71(2):134-7.
1985: G Assum; E U Griese; Jürgen Horst
Detection of a restriction site polymorphism within the human alpha-globin gene complex.
Human genetics 1985;69(2):144-6.
1984: Jürgen Horst; R Oehme; E Kleihauer; Elisabeth Kohne
Hemoglobin Köln: analysis of linkage relationships between the mutant gene and polymorphic restriction sites in the beta-globin gene cluster.
Blut 1984;48(4):213-9.
1984: Jürgen Horst; E U Griese; E Kleihauer; Elisabeth Kohne
Alpha-globin gene deletion causes alpha-thalassemia syndromes in two German families.
Human genetics 1984;68(3):260-3.
1983: R Oehme; Elisabeth Kohne; E Kleihauer; Jürgen Horst
Hb M Milwaukee: direct detection of the beta-globin gene mutation in three generations of an afflicted family.
Human genetics 1983;64(4):376-9.
1983: Jürgen Horst; R Oehme; E Kleihauer; Elisabeth Kohne
DNA restriction mapping identifies the chromosome carrying the mutant Hb Presbyterian beta-globin gene.
Human genetics 1983;64(3):263-6.