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Peter Nürnberg

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Maria Arélin; Christian Becker; Alexander Diers; Denise Horn; Tom H Lindner; Bertram Müller-Myhsok; Stefan Mundlos; Gudrun Nürnberg; Peter Nürnberg; Bernt Schulze; Karl Sperling; Birgit Uhlenberg; Katrin Hoffmann
Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects.
christian beetz; Ewa Bomba-Warczak; Edwin R Chapman; Erik W Dent; Thomas Fothergill; Nicole Hertel; Adam Johnson; Gudrun Nürnberg; Peter Nürnberg; Renu Saxena; Amber L Schuh; Seema Thakur; Holger Thiele; Rita-Eva Varga; Janine Altmüller; Anjon Audhya
Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.
Maureen Wirschell; Petra Pennekamp; Mary E Porter; Winfield S Sale; Unne Stenram; Douglas Tritschler; Claudius Werner; Raqual Bower; Birgitta Carlén; Elisabeth Horak; Gabriele Köhler; Sven Lindberg; Niki Tomas Loges; Gudrun Nürnberg; Peter Nürnberg; Heike Olbrich; Heymut Omran
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.

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All Publications

2013: Maria Arélin; Christian Becker; Alexander Diers; Denise Horn; Tom H Lindner; Bertram Müller-Myhsok; Stefan Mundlos; Gudrun Nürnberg; Peter Nürnberg; Bernt Schulze; Karl Sperling; Birgit Uhlenberg; Katrin Hoffmann
Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects.
European journal of human genetics : EJHG 2013;21(4):367-72.
2013: christian beetz; Ewa Bomba-Warczak; Edwin R Chapman; Erik W Dent; Thomas Fothergill; Nicole Hertel; Adam Johnson; Gudrun Nürnberg; Peter Nürnberg; Renu Saxena; Amber L Schuh; Seema Thakur; Holger Thiele; Rita-Eva Varga; Janine Altmüller; Anjon Audhya
Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.
Proceedings of the National Academy of Sciences of the United States of America 2013;110(13):5091-6.
2013: Maureen Wirschell; Petra Pennekamp; Mary E Porter; Winfield S Sale; Unne Stenram; Douglas Tritschler; Claudius Werner; Raqual Bower; Birgitta Carlén; Elisabeth Horak; Gabriele Köhler; Sven Lindberg; Niki Tomas Loges; Gudrun Nürnberg; Peter Nürnberg; Heike Olbrich; Heymut Omran
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.
Nature genetics 2013;45(3):262-8.
2013: Dennis Lal; Holger Lerche; Costin Leu; Rikke Steensbjerre Møller; Bernd A Neubauer; Peter Nürnberg; Janina S Ried; Thomas Sander; Christoph J Schankin; Rainer Surges; Holger Trucks; Frank Visscher; Yvonne G Weber; Fritz Zimprich; Felicitas Becker; Carolien G F de Kovel; Andre Franke; Helle Hjalgrim; Thomas Illig; Bobby P C Koeleman; Wolfram S Kunz
Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy.
Epilepsia 2013;54(2):265-71.
2013: Dennis Lal; Susanne Motameny; Bernd A Neubauer; Peter Nürnberg; Boris Rolinski; Holger Thiele; Uwe Ahting; Janine Altmüller; Kerstin Becker; Andreas Hahn
Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis.
Neurogenetics 2013;14(1):85-7.
2012: Naseebullah Kakar; Christian Kubisch; Gudrun Nürnberg; Peter Nürnberg; Noor Agha; Adeel Ahmad; Jamil Ahmad; Shakeela Daud; Ingrid Goebel; Guntram Borck
A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.
European journal of medical genetics 2012;55(12):727-31.
2012: Guntram Borck; Laurence Colleaux; Thomas E Dever; Peter Frommolt; Doron Gothelf; Adi Har-Zahav; Kay Hofmann; Joo-Ran Kim; Osnat Konen; Christian Kubisch; Aviva Mimouni-Bloch; Arnold Munnich; Gudrun Nürnberg; Peter Nürnberg; Charles E Schwartz; Byung-Sik Shin; Cindy Skinner; Pola Smirin-Yosef; Barbara Stiller; Meghna Thakur; Holger Thiele; Janine Altmüller; Lara Aschenbach; Lina Basel-Vanagaite
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.
Molecular cell 2012;48(4):641-6.
2012: Simon von Ameln; Geng Wang; Bernd Wollnik; Omar Abidi; Abdelhamid Barakat; Guntram Borck; Redouane Boulouiz; Richard J Goodyear; Matthias Hammerschmidt; Kay Hofmann; Jason S Hong; Carla M Koehler; Yun Li; Tobias Moser; Gudrun Nürnberg; Peter Nürnberg; Hans-Martin Pogoda; Guy P Richardson; Mark A Rutherford; Geoffrey M Smith; Barbara Stiller; Michael A Teitell; Alexander E Volk; Christian Kubisch
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
American journal of human genetics 2012;91(5):919-27.
2012: Heike Olbrich; Alexandros Onoufriadis; Johanna Raidt; Richard Reinhardt; Miriam Schmidts; Josef Schroeder; Amelia Shoemark; Claudius Werner; Saeed Al Turki; Nora Fanni Banki; Tom Burgoyne; Eddie M K Chung; Matthew E Hurles; Gabriele Köhler; Niki Tomas Loges; June K Marthin; Hannah M Mitchison; Kim G Nielsen; Gudrun Nürnberg; Peter Nürnberg; Heymut Omran
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.
American journal of human genetics 2012;91(4):672-84.
2012: David Coelho; Marcel du Moulin; Brian Fowler; Michele Frapolli; Stephen Fung; Wolfgang Höhne; Jaeseung C Kim; Nicola Longo; Jacek Majewski; Eugen Mengel; Isabelle R Miousse; Peter Nürnberg; Marzia Pasquali; Horst Robenek; David S Rosenblatt; Frank Rutsch; Eric A Shoubridge; Martin Stucki; Terttu Suormala; Holger Thiele; David Watkins; Insa Buers; Patricie Burda; Matthias R Baumgartner
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
Nature genetics 2012;44(10):1152-5.
2012: Hendrik Rosewich; Hartmut Siemes; Holger Thiele; Birgit Zirn; Janine Altmüller; Knut Brockmann; Friedrich Ebinger; Peter Frommolt; Ulrike Maschke; Peter Nürnberg; Andreas Ohlenbusch; Jutta Gärtner
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
Lancet neurology 2012;11(9):764-73.
2012: Davor Lessel; Peter Nürnberg; Mohammad Reza Toliat; Renata Zunec; Melita Balija; Katrin Friedrich; Marija Gamulin; Mislav Grgic; Josef Högel; Zeljko Kastelan; Tomislav Kulis; Christian Kubisch
Replication of genetic susceptibility loci for testicular germ cell cancer in the Croatian population.
Carcinogenesis 2012;33(8):1548-52.
2012: Ayelet Halevy; Adi Har-Zahav; Shlomit Helman; Dov Inbar; Liora Kornreich; Idit Maya; Gudrun Nürnberg; Peter Nürnberg; Avinoam Shuper; Tamar Steinberg; Lina Basel-Vanagaite; Einat Birk; Rachel Straussberg
Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12.
Pediatric neurology 2012;46(6):363-8.
2012: Muhammad Sajid Hussain; Sascha Neumann; Angelika Anna Noegel; Gudrun Nürnberg; Ilyas Ahmad; Thomas Alef; Janine Altmüller; Shahid Mahmood Baig; Muhammad Farooq; Peter Frommolt; Hans Christian Hennies; Martin Technau; Holger Thiele; Peter Nürnberg
A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.
American journal of human genetics 2012;90(5):871-8.
2012: E Ellinghaus; Abdou ElSharawy; C Franceschi; T Bartram; Gunnar Cario; H Cavé; Giovanni Cazzaniga; Ondrej Cinek; D Ellinghaus; M Giordan; Robert Häsler; B Heinzow; M Horstmann; Francesco Lescai; Barbara Meissner; Almut Nebel; Peter Nürnberg; R Panzer Grümayer; G Richter; Martin Schrappe; Stefan Schreiber; Martin Stanulla; Geertruy Te Kronnie; Andrea Teigler-Schlegel; Jan Trka; Martin Zimmermann; Andre Franke
Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.
Leukemia 2012;26(5):902-9.
2012: P V Asharani; Jutta Becker; Nurten A Akarsu; Janine Altmüller; Peter Frommolt; Daniel S Greenspan; Matthias Hammerschmidt; Katharina Keupp; Yun Li; Christian Netzer; Peter Nürnberg; Esther Pohl; Eckhard Schönau; Oliver Semler; Carmen Sonntag; Holger Thiele; Wenshen Wang; Radu Wirth; Bernd Wollnik; Gökhan Yigit; Katharina Zimmermann; Thomas J Carney
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.
American journal of human genetics 2012;90(4):661-74.
2012: Peter Frommolt; Susanne Motameny; Kathryn Stemshorn; Holger Thiele; Ali T Abdallah; Janine Altmüller; Christian Becker; Matthias Fischer; Tobias Freilinger; Peter Nürnberg
Assessing the enrichment performance in targeted resequencing experiments.
Human mutation 2012;33(4):635-41.
2012: Peter Huppke; Stephen G Kaler; Vera Kalscheuer; Georg Christoph Korenke; Iris Marquardt; Lisbeth Birk Møller; Gudrun Nürnberg; Peter Nürnberg; Gaele Pitelet; Reinhard Ullmann; Callum Wilson; Cornelia Brendel; John Christodoulou; Shzeena Dad; Orly Elpeleg; Peter Freisinger; Ursula Gruber-Sedlmayr; Stefan Haas; Merle Hillebrand; Jutta Gärtner
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
American journal of human genetics 2012;90(1):61-8.
2012: Thomas Bettecken; Zakharia M Frenkel; Peter Nürnberg; Janine Altmüller; Edward N Trifonov
Apoptotic cleavage of DNA in human lymphocyte chromatin shows high sequence specificity.
Journal of biomolecular structure & dynamics 2012;30(2):211-6.
2011: Stefanie Weber; Duncan T Wilcox; Janine Altmüller; Rolf Beetz; Markus Draaken; Peter Frommolt; Neil A Hanley; Peter F Hoyer; Rachel Jennings; Martin Konrad; Michael Ludwig; Sevgi Mir; William G Newman; Peter Nürnberg; Parisa Ranjzad; Heiko Reutter; Franz Schaefer; Karl Peter Schlingmann; Betül Sozeri; Helen M Stuart; Uwe Thiel; Holger Thiele; Mohammad Reza Toliat; Adrian S Woolf
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.
American journal of human genetics 2011;89(5):668-74.
2011: Sevjidmaa Baasanjav; Christian Becker; Vincent Cantagrel; Bjoern Fischer; Joseph G Gleeson; Delphine Gomez; Taishi Hashiguchi; Denise Horn; Ruth Langer; Tom H Lindner; Jean-Baptiste Michel; Shuji Mizumoto; Stefan Mundlos; Gudrun Nürnberg; Peter Nürnberg; Ahmed A H Saleh; Dominik Seelow; Sigmar Stricker; Kazuyuki Sugahara; Lihadh Al-Gazali; bassam rushdi ali; Samir A A Aziz; Katrin Hoffmann
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.
American journal of human genetics 2011;89(1):15-27.
2011: Marcel du Moulin; Peter Nürnberg; Yanick J Crow; Frank Rutsch
Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations.
Proceedings of the National Academy of Sciences of the United States of America 2011;108(26):E232; author reply E233.
2011: Antje K Huebner; Luis A Aguirre; Janine Altmüller; Ignacio del Castillo; Peter Frommolt; Andreas Gal; Marta Gandia; Sebastian Giesselmann; Christian A Hübner; Anika Maak; Hannes Maier; Felipe Moreno; Gudrun Nürnberg; Peter Nürnberg; Isabella Rau; Holger Thiele; Antonio Viñuela; Florian Wagner; Eva M Wicklein; Ingo Kurth
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
American journal of human genetics 2011;88(5):621-7.
2011: Alexander Herrmann; Steve K Kotsopoulos; Michael Krawczak; Darren R Link; Idoia Martin-Guerrero; Michael Nothnagel; Peter Nürnberg; Jeff Olson; Matthias Platzer; Julia Richter; Stefan Schreiber; Reiner Siebert; Kathryn Stemshorn; Karol Szafranski; Jason Warner; Ole Ammerpohl; Andrea Haake; Jochen Hampe
Pipeline for large-scale microdroplet bisulfite PCR-based sequencing allows the tracking of hepitype evolution in tumors.
PloS one 2011;6(7):e21332.
2011: Silvia Querings; Janine Altmüller; Sascha Ansén; Thomas Zander; Danila Seidel; Franziska Gabler; Martin Peifer; Eva Markert; Kathryn Stemshorn; Bernd Timmermann; Beate Saal; Stefan Klose; Karen Ernestus; Matthias Scheffler; Walburga Engel-Riedel; Erich Stoelben; Elisabeth Brambilla; Jürgen Wolf; Peter Nürnberg; Roman K Thomas
Benchmarking of mutation diagnostics in clinical lung cancer specimens.
PloS one 2011;6(5):e19601.
2010: Stefan Viktor Vormfelde; Mohammad R Toliat; Peter Nürnberg; Jürgen Brockmöller
Atrial natriuretic peptide polymorphisms, hydrochlorothiazide and urinary potassium excretion.
International journal of cardiology 2010;144(1):72-4.
2010: Véronique Dutrannoy; Ilja Demuth; Ulrich Baumann; Detlev Schindler; Kateryna Konrat; Heidemarie Neitzel; Gabriele Gillessen-Kaesbach; Janina Radszewski; Susanne Rothe; Mario T Schellenberger; Gudrun Nürnberg; Peter Nürnberg; Keng Wee Teik; Revathy Nallusamy; André Reis; Karl Sperling; Martin Digweed; Raymonda Varon
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.
Human mutation 2010;31(9):1059-68.
2010: Yulia Vistoropsky; Sergey Ermakov; Mohammad R Toliat; Svetlana Trofimov; Janine Altmüller; Ida Malkin; Peter Nürnberg; Gregory Livshits
Genetic determinants of circulating levels of tumor necrosis factor receptor II and their association with TNF-RII gene polymorphisms.
Cytokine 2010;51(1):28-34.
2010: Susann Gailus; Wolfgang Höhne; Bruno Gasnier; Peter Nürnberg; Brian Fowler; Frank Rutsch
Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease.
Journal of molecular medicine (Berlin, Germany) 2010;88(5):459-66.
2010: Sergey Ermakov; Mohammad R Toliat; Zvi Cohen; Ida Malkin; Janine Altmüller; Gregory Livshits; Peter Nürnberg
Association of ALPL and ENPP1 gene polymorphisms with bone strength related skeletal traits in a Chuvashian population.
Bone 2010;46(5):1244-50.
2010: Uwe Kornak; Francesco Brancati; Martine Le Merrer; Klaske Lichtenbelt; Wolfgang Ernst Hoehne; Sigrid Tinschert; Francesco Giuseppe Garaci; Bruno Dallapiccola; Peter Nürnberg
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.
American journal of medical genetics. Part A 2010;152A(4):870-4.
2010: Susann Gailus; Terttu Suormala; Ayse Gül Malerczyk-Aktas; Mohammad R Toliat; Tanja Wittkampf; Martin Stucki; Peter Nürnberg; Brian Fowler; Julia B Hennermann; Frank Rutsch
A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient.
Journal of inherited metabolic disease 2010;33(1):17-24.
2010: Hans Knoblauch; Christian Geier; Stephanie Adams; Birgit Budde; André Rudolph; Ute Zacharias; Jeannette Schulz-Menger; Andreas Spuler; Rabah Ben Yaou; Peter Nürnberg; Thomas Voit; Gisele Bonne; Simone Spuler
Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.
Annals of neurology 2010;67(1):136-40.
2009: Meliha Karsak; Ida Malkin; Mohammad R Toliat; Christian Kubisch; Peter Nürnberg; Andreas Zimmer; Gregory Livshits
The cannabinoid receptor type 2 (CNR2) gene is associated with hand bone strength phenotypes in an ethnically homogeneous family sample.
Human genetics 2009;126(5):629-36.
2009: Marco Henneke; Simone Diekmann; Andreas Ohlenbusch; Jens Kaiser; Volkher Engelbrecht; Alfried Kohlschuetter; Ralph Krätzner; Marcos Madruga-Garrido; Michèle Mayer; Lennart Opitz; Diana Rodriguez; Franz Rüschendorf; Johannes Schumacher; Holger Thiele; Sven Thoms; Robert Steinfeld; Peter Nürnberg; Jutta Gärtner
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.
Nature genetics 2009;41(7):773-5.
2009: Dominik Seelow; Markus Schuelke; Friedhelm Hildebrandt; Peter Nürnberg
HomozygosityMapper--an interactive approach to homozygosity mapping.
Nucleic acids research 2009;37(Web Server issue):W593-9.
2009: Katrin Hoffmann; Christian Planitz; Franz Rüschendorf; Bertram Müller-Myhsok; Hans H Stassen; Barbara Lucke; Manuel Mattheisen; Michael Stumvoll; Rolf Bochmann; Martin Zschornack; Thomas F Wienker; Peter Nürnberg; André Reis; Friedrich C Luft; Tom H Lindner
A novel locus for arterial hypertension on chromosome 1p36 maps to a metabolic syndrome trait cluster in the Sorbs, a Slavic population isolate in Germany.
Journal of hypertension 2009;27(5):983-90.
2009: Katarina Dathe; Klaus W Kjaer; Anja Brehm; Peter Meinecke; Peter Nürnberg; Jordao C Neto; Decio Brunoni; Nils Tommerup; Claus E Ott; Eva Klopocki; Petra Seemann; Stefan Mundlos
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.
American journal of human genetics 2009;84(4):483-92.
2008: Frank Rutsch; Petra Böyer; Yvonne Nitschke; Nico Ruf; Bettina Lorenz-Depierieux; Tanja Wittkampf; Gabriele Weissen-Plenz; Rudolf-Josef Fischer; Zulf Mughal; John W Gregory; Justin H Davies; Chantal Loirat; Tim M Strom; Dirk Schnabel; Peter Nürnberg; Robert Terkeltaub
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.
Circulation. Cardiovascular genetics 2008;1(2):133-40.
2008: Andre Franke; Annegret Fischer; Michael Nothnagel; Christian Becker; Nils Grabe; Andreas Till; Tim Lu; Joachim Müller-Quernheim; Michael Wittig; Alexander Hermann; Tobias Balschun; Sylvia Hofmann; Regina Niemiec; Sabrina Schulz; Jochen Hampe; Susanna Nikolaus; Peter Nürnberg; Michael Krawczak; Manfred Schürmann; Philip Rosenstiel; Almut Nebel; Stefan Schreiber
Genome-wide association analysis in sarcoidosis and Crohn's disease unravels a common susceptibility locus on 10p12.2.
Gastroenterology 2008;135(4):1207-15.
2008: Christian Geier; Katja Gehmlich; Elisabeth Ehler; Sabine Hassfeld; Andreas Perrot; Katrin Hayess; nuno cardim; Katrin Wenzel; Bettina Erdmann; Florian Krackhardt; Maximilian Posch; Karl J Osterziel; Angelika Bublak; Herbert Nägele; Thomas Scheffold; Rainer Dietz; Kenneth R Chien; Simone Spuler; Dieter O Fürst; Peter Nürnberg; Cemil Ozcelik
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
Human molecular genetics 2008;17(18):2753-65.
2008: Daniel Janke; Sherif Mehralivand; Dennis Strand; Ute Gödtel-Armbrust; Alice Habermeier; Ulrike Gradhand; Christine Fischer; Mohammad R Toliat; Peter Fritz; Uli Zanger; Matthias Schwab; Martin F Fromm; Peter Nürnberg; Leszek Wojnowski; Ellen I Closs; Thomas Lang
6-mercaptopurine and 9-(2-phosphonyl-methoxyethyl) adenine (PMEA) transport altered by two missense mutations in the drug transporter gene ABCC4.
Human mutation 2008;29(5):659-69.
2008: Stefanie Märschenz; Anja Brinckmann; Peter Nürnberg; Detlev H Krüger; Stephan Günther; Helga Meisel
Co-replication analyses of naturally occurring defective hepatitis B virus variants with wild-type.
Virology 2008;372(2):247-59.
2008: Sandra M Pasternack; Ivar von Kügelgen; YA Lee; Franz Rüschendorf; Katrin Voss; Axel M Hillmer; Gerhard J Molderings; Thomas Franz; Alfredo Ramirez; Peter Nürnberg; Markus M Nöthen; Khalid Al Aboud; Regina C Betz
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth.
Nature genetics 2008;40(3):329-34.
2008: Angelika Kuhl; Atle Melberg; Edgar Meinl; Gudrun Nürnberg; Peter Nürnberg; Hildegard Kehrer-Sawatzki; Dieter E Jenne
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3.
European journal of human genetics : EJHG 2008;16(3):367-73.
2008: Ulrike Sauermann; R Siddiqui; You-Suk Suh; M Platzer; N Leuchte; H Meyer; Kerstin Mätz-Rensing; Heribert Stoiber; Peter Nürnberg; Gerhard Hunsmann; Christiane Stahl-Hennig; Michael Krawczak
Mhc class I haplotypes associated with survival time in simian immunodeficiency virus (SIV)-infected rhesus macaques.
Genes and immunity 2008;9(1):69-80.
2007: Anja Brinckmann; Claudia Mischung; Ingelore Bässmann; Jirko Kühnisch; Markus Schuelke; Sigrid Tinschert; Peter Nürnberg
Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.
Electrophoresis 2007;28(23):4295-301.
2007: Nico Ruf; Sylvia Bähring; Danuta Galetzka; Galyna Pliushch; Friedrich C Luft; Peter Nürnberg; Thomas Haaf; Gavin Kelsey; Ulrich Zechner
Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassium channel gene in mouse and human.
Human molecular genetics 2007;16(21):2591-9.
2007: Stefan Viktor Vormfelde; Daniel Sehrt; Mohammad R Toliat; Markus Schirmer; Ingolf Meineke; Mladen Tzvetkov; Peter Nürnberg; Jürgen Brockmöller
Genetic variation in the renal sodium transporters NKCC2, NCC, and ENaC in relation to the effects of loop diuretic drugs.
Clinical pharmacology and therapeutics 2007;82(3):300-9.
2007: Stephan Buch; Clemens Schafmayer; Henry Völzke; Christian Becker; Andre Franke; Huberta von Eller-Eberstein; Christian Kluck; Ingelore Bässmann; Mario Brosch; Frank Lammert; Juan Miquel; Flavio Nervi; Michael Wittig; Dieter Rosskopf; Birgit Timm; Christine Höll; Markus Seeger; Abdou ElSharawy; Timothy Lu; Jan-Hendrik Egberts; Fred Fändrich; Ulrich R Fölsch; Michael Krawczak; Stefan Schreiber; Peter Nürnberg; Juergen Tepel; Jochen Hampe
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
Nature genetics 2007;39(8):995-9.
2007: Anne Detjen; Sigrid Tinschert; Dieter Kaufmann; Bernd Algermissen; Peter Nürnberg; Markus Schuelke
Analysis of mitochondrial DNA in discordant monozygotic twins with neurofibromatosis type 1.
Twin research and human genetics : the official journal of the International Society for Twin Studies 2007;10(3):486-95.
2007: Stefan Viktor Vormfelde; Markus Schirmer; Mohammad R Toliat; Ingolf Meineke; Julia Kirchheiner; Peter Nürnberg; Jürgen Brockmöller
Genetic variation at the CYP2C locus and its association with torsemide biotransformation.
The pharmacogenomics journal 2007;7(3):200-11.
2007: Markus Schirmer; Albert Rosenberger; Kathrin Klein; Bettina Kulle; Mohammad R Toliat; Peter Nürnberg; Uli Zanger; Leszek Wojnowski
Sex-dependent genetic markers of CYP3A4 expression and activity in human liver microsomes.
Pharmacogenomics 2007;8(5):443-53.
2007: Elena Ioana Braicu; Alexander Mustea; Mohammad R Toliat; Cristina Pirvulescu; Dominique Könsgen; Pengming Sun; Peter Nürnberg; Werner Lichtenegger; Jalid Sehouli
Polymorphism of IL-1alpha, IL-1beta and IL-10 in patients with advanced ovarian cancer: results of a prospective study with 147 patients.
Gynecologic oncology 2007;104(3):680-5.
2007: Anja Brinckmann; Klaus Rüther; Kathleen Williamson; Birgit Lorenz; Barbara Lucke; Peter Nürnberg; Frans J M Trijbels; Antoon Janssen; Markus Schuelke
De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease.
Journal of molecular medicine (Berlin, Germany) 2007;85(2):163-8.
2007: Andreas Wollstein; Alexander Herrmann; Michael Wittig; Michael Nothnagel; Andre Franke; Peter Nürnberg; Stefan Schreiber; Michael Krawczak; Jochen Hampe
Efficacy assessment of SNP sets for genome-wide disease association studies.
Nucleic acids research 2007;35(17):e113.
2007: Andre Franke; Jochen Hampe; Philip Rosenstiel; Christian Becker; Florian Wagner; Robert Häsler; Randall Little; Klaus Huse; Andreas Ruether; Tobias Balschun; Michael Wittig; Abdou ElSharawy; Gabriele Mayr; Mario Albrecht; Natalie Prescott; Clive M Onnie; Hélène Fournier; Tim P Keith; Uwe Radelof; Matthias Platzer; Christopher G Mathew; Monika Stoll; Michael Krawczak; Peter Nürnberg; Stefan Schreiber
Systematic association mapping identifies NELL1 as a novel IBD disease gene.
PloS one 2007;2(8):e691.
2006: Abdou ElSharawy; Carl Manaster; Markus Teuber; Philip Rosenstiel; Ruta Kwiatkowski; Klaus Huse; Matthias Platzer; Albert Becker; Peter Nürnberg; Stefan Schreiber; Jochen Hampe
SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAs.
Human mutation 2006;27(11):1129-34.
2006: Stefanie Märschenz; Anne-Sophie Endres; Anja Brinckmann; Tilman Heise; Glen Kristiansen; Peter Nürnberg; Detlev H Krüger; Stephan Günther; Helga Meisel
Functional analysis of complex hepatitis B virus variants associated with development of liver cirrhosis.
Gastroenterology 2006;131(3):765-80.
2006: Stefan Viktor Vormfelde; Markus Schirmer; Yohannes Hagos; Mohammad R Toliat; Sabine Engelhardt; Ingolf Meineke; Gerhard Burckhardt; Peter Nürnberg; Jürgen Brockmöller
Torsemide renal clearance and genetic variation in luminal and basolateral organic anion transporters.
British journal of clinical pharmacology 2006;62(3):323-35.
2006: Patricia Entz; Bettina Blaumeiser; Regina C Betz; Julien Lambert; Katia Seymons; Sibylle Eigelshoven; Sandra Hanneken; Roland Kruse; Peter Nürnberg; Marion Nagy; Markus M Nöthen
Investigation of the HLA-DRB1 locus in alopecia areata.
European journal of dermatology : EJD 2006;16(4):363-7.
2006: Andre Franke; Andreas Wollstein; Markus Teuber; Michael Wittig; Timothy Lu; Katrin Hoffmann; Peter Nürnberg; Michael Krawczak; Stefan Schreiber; Jochen Hampe
GENOMIZER: an integrated analysis system for genome-wide association data.
Human mutation 2006;27(6):583-8.
2006: Juergen Loeffler; Michael Steffens; Eva-Maria Arlt; Mohammad R Toliat; Markus Mezger; Anita Suk; Thomas F Wienker; Holger Hebart; Peter Nürnberg; Michael Boeckh; Per Ljungman; Rudolf Trenschel; Hermann Einsele
Polymorphisms in the genes encoding chemokine receptor 5, interleukin-10, and monocyte chemoattractant protein 1 contribute to cytomegalovirus reactivation and disease after allogeneic stem cell transplantation.
Journal of clinical microbiology 2006;44(5):1847-50.
2006: Nico Ruf; Ulrich Dünzinger; Anja Brinckmann; Thomas Haaf; Peter Nürnberg; Ulrich Zechner
Expression profiling of uniparental mouse embryos is inefficient in identifying novel imprinted genes.
Genomics 2006;87(4):509-19.
2006: Atakan Aydin; Mohammad R Toliat; Sylvia Bähring; Christian Becker; Peter Nürnberg
New universal primers facilitate Pyrosequencing.
Electrophoresis 2006;27(2):394-7.
2006: Anja Bauerfeind; Hans Knoblauch; Michael C Costanza; Tatjana Luganskaja; Mohammad R Toliat; Peter Nürnberg; Friedrich C Luft; Jens G Reich; Alfredo Morabia
Concordant association of lipid gene variation with a combined HDL/LDL-cholesterol phenotype in two European populations.
Human heredity 2006;61(3):123-31.
2006: Markus Schirmer; Mohammad R Toliat; Michael Haberl; Anita Suk; Landry K Kamdem; Kathrin Klein; Jürgen Brockmöller; Peter Nürnberg; Uli Zanger; Leszek Wojnowski
Genetic signature consistent with selection against the CYP3A4*1B allele in non-African populations.
Pharmacogenetics and genomics 2006;16(1):59-71.
2006: Weiyue Zheng; Philip Rosenstiel; Klaus Huse; Christian Sina; Ruta Valentonyte; Nancy Mah; Lutz Zeitlmann; Johannes Grosse; N Ruf; Peter Nürnberg; Christine M Costello; Clive M Onnie; Christopher G Mathew; Matthias Platzer; Stefan Schreiber; Jochen Hampe
Evaluation of AGR2 and AGR3 as candidate genes for inflammatory bowel disease.
Genes and immunity 2006;7(1):11-8.
2005: Leszek Wojnowski; Bettina Kulle; Markus Schirmer; Gregor Schlüter; Albrecht Schmidt; Albert Rosenberger; Stefan Vonhof; Heike Bickeböller; Mohammad R Toliat; Eun-Kyung Suk; Mladen Tzvetkov; Anke Kruger; Silvia Seifert; Marita Kloess; Heidi Hahn; Markus Loeffler; Peter Nürnberg; Michael Pfreundschuh; Lorenz Trümper; Jürgen Brockmöller; Gerd Hasenfuss
NAD(P)H oxidase and multidrug resistance protein genetic polymorphisms are associated with doxorubicin-induced cardiotoxicity.
Circulation 2005;112(24):3754-62.
2005: Bettina Kulle; Markus Schirmer; Mohammad R Toliat; Anita Suk; Christian Becker; Mladen Tzvetkov; Jürgen Brockmöller; Heike Bickeböller; Gerd Hasenfuss; Peter Nürnberg; Leszek Wojnowski
Application of genomewide SNP arrays for detection of simulated susceptibility loci.
Human mutation 2005;25(6):557-65.
2005: René Gödde; Klaus Rohde; Christian Becker; Mahammad R Toliat; Patricia Entz; Anita Suk; Norbert Müller; Eckhart Sindern; Michael Haupts; Sebastian Schimrigk; Peter Nürnberg; Jörg T Epplen
Association of the HLA region with multiple sclerosis as confirmed by a genome screen using >10,000 SNPs on DNA chips.
Journal of molecular medicine (Berlin, Germany) 2005;83(6):486-94.
2005: Michael Krawczak; Andrea Trefilov; John D Berard; Fred Bercovitch; Matthew Kessler; Ulrike Sauermann; Peter J P Croucher; Peter Nürnberg; Anja Widdig; Jörg Schmidtke
Male reproductive timing in Rhesus macaques is influenced by the 5HTTLPR promoter polymorphism of the serotonin transporter gene.
Biology of reproduction 2005;72(5):1109-13.
2005: Ida Malkin; Stefan Dahm; Anita Suk; eugene kobyliansky; Mohammad R Toliat; Nico Ruf; Gregory Livshits; Peter Nürnberg
Association of ANKH gene polymorphisms with radiographic hand bone size and geometry in a Chuvasha population.
Bone 2005;36(2):365-73.
2005: Mladen Tzvetkov; Christian Becker; Bettina Kulle; Peter Nürnberg; Jürgen Brockmöller; Leszek Wojnowski
Genome-wide single-nucleotide polymorphism arrays demonstrate high fidelity of multiple displacement-based whole-genome amplification.
Electrophoresis 2005;26(3):710-5.
2005: Eun-Kyung Suk; Ida Malkin; Stefan Dahm; Leonid Kalichman; Nico Ruf; eugene kobyliansky; Mohammad R Toliat; Frank Rutsch; Peter Nürnberg; Gregory Livshits
Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population.
Arthritis research & therapy 2005;7(5):R1082-90.
2005: Dieter E Jenne; Rudi A Kley; Matthias Vorgerd; J Michael Schröder; Joachim Weis; Heike Reimann; Beate Albrecht; Peter Nürnberg; Holger Thiele; Clemens R Müller; Gerhard Meng; Christian C Witt; Siegfried Labeit
Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.
Biological chemistry 2005;386(1):61-7.
2005: Patricia Entz; Mohammad R Toliat; Jochen Hampe; Ruta Valentonyte; Stefan Jenisch; Peter Nürnberg; Marion Nagy
New strategies for efficient typing of HLA class-II loci DQB1 and DRB1 by using Pyrosequencing.
Tissue antigens 2005;65(1):67-80.
2005: Nico Ruf; Birgit Uhlenberg; Robert Terkeltaub; Peter Nürnberg; Frank Rutsch
The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI).
Human mutation 2005;25(1):98.
2004: Sigrid Tinschert; Nico Ruf; Ilenia Bernascone; Kai Sacherer; Giuseppe Lamorte; Hans-Hellmut Neumayer; Peter Nürnberg; Friedrich C Luft; Luca Rampoldi
Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2004;19(12):3150-4.
2004: Angela M Kaindl; Franz Rüschendorf; S Krause; H-H Goebel; K Koehler; C Becker; D Pongratz; J Müller-Höcker; Peter Nürnberg; G Stoltenburg-Didinger; Hanns Lochmüller; Angela Huebner
Missense mutations of ACTA1 cause dominant congenital myopathy with cores.
Journal of medical genetics 2004;41(11):842-8.
2004: Peter Robinson; Ulrike Böhme; Rodrigo Lopez; Stefan Mundlos; Peter Nürnberg
Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis.
Human molecular genetics 2004;13(17):1969-78.
2004: Birgit Uhlenberg; Markus Schuelke; Franz Rüschendorf; Nico Ruf; Angela M Kaindl; Marco Henneke; Holger Thiele; Gisela Stoltenburg-Didinger; Fuat Aksu; Haluk Topaloğlu; Peter Nürnberg; Christoph Hübner; Bernhard Weschke; Jutta Gärtner
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
American journal of human genetics 2004;75(2):251-60.
2004: Holger Thiele; Masahiro Sakano; Hiroshi Kitagawa; Kazuyuki Sugahara; Anna Rajab; Wolfgang Ernst Hoehne; Heide Ritter; Gundula Leschik; Peter Nürnberg; Stefan Mundlos
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(27):10155-60.
2004: Sabine Sasse-Klaassen; Susanne Probst; Brenda Gerull; Erwin Oechslin; Peter Nürnberg; Arnd Heuser; Rolf Jenni; Hans Christian Hennies; Ludwig Thierfelder
Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15.
Circulation 2004;109(22):2720-3.
2004: Hans Knoblauch; Anja Bauerfeind; Mohammad R Toliat; Christian Becker; Tatjana Luganskaja; Ulf Peter Günther; Klaus Rohde; Herbert Schuster; Christine Junghans; Friedrich C Luft; Peter Nürnberg; Jens G Reich
Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density lipoprotein and low-density lipoprotein cholesterol.
Human molecular genetics 2004;13(10):993-1004.
2004: Anja Widdig; Fred B Bercovitch; Wolf Jürgen Streich; Ulrike Sauermann; Peter Nürnberg; Michael Krawczak
A longitudinal analysis of reproductive skew in male rhesus macaques.
Proceedings. Biological sciences / The Royal Society 2004;271(1541):819-26.
2004: Andreas Busjahn; Guiscard Seebohm; Gottlieb Maier; Mohammad R Toliat; Peter Nürnberg; Atakan Aydin; Friedrich C Luft; Florian Lang
Association of the serum and glucocorticoid regulated kinase (sgk1) gene with QT interval.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2004;14(3):135-42.
2003: Katarina Lehmann; Petra Seemann; Sigmar Stricker; Marei Sammar; Birgit Meyer; Kathrin Süring; Frank Majewski; Sigrid Tinschert; Karl-Heinz Grzeschik; Dietmar Müller; Petra Knaus; Peter Nürnberg; Stefan Mundlos
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(21):12277-82.
2003: Karen Uhlmann; Klaus Rohde; Constanze Zeller; Janusz Szymas; Siegfried Vogel; Karola Marczinek; Gundula Thiel; Peter Nürnberg; Peter W Laird
Distinct methylation profiles of glioma subtypes.
International journal of cancer. Journal international du cancer 2003;106(1):52-9.
2003: Frank Rutsch; Nico Ruf; Sucheta M Vaingankar; Mohammad R Toliat; Anita Suk; Wolfgang Höhne; Galen Schauer; Mandy Lehmann; Tony Roscioli; Dirk Schnabel; Jörg T Epplen; Alex Knisely; andrea superti-furga; James McGill; Marco Filippone; Alan R Sinaiko; Hillary Vallance; Bernd Hinrichs; Wendy Smith; Merry Ferre; Robert Terkeltaub; Peter Nürnberg
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
Nature genetics 2003;34(4):379-81.
2003: Fred B Bercovitch; Anja Widdig; Andrea Trefilov; Matt J Kessler; John D Berard; Jörg Schmidtke; Peter Nürnberg; Michael Krawczak
A longitudinal study of age-specific reproductive output and body condition among male rhesus macaques, Macaca mulatta.
Die Naturwissenschaften 2003;90(7):309-12.
2003: Maolian Gong; Hongye Zhang; Herbert Schulz; Young-Ae Lee; Kai Sun; Sylvia Bähring; Friedrich C Luft; Peter Nürnberg; André Reis; Klaus Rohde; Detlev Ganten; Rutai Hui; Norbert Hübner
Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p.
Human molecular genetics 2003;12(11):1273-7.
2002: Karen Uhlmann; Anja Brinckmann; Mohammad R Toliat; Heide Ritter; Peter Nürnberg
Evaluation of a potential epigenetic biomarker by quantitative methyl-single nucleotide polymorphism analysis.
Electrophoresis 2002;23(24):4072-9.
2002: Thomas Sander; Mohammad R Toliat; Armin Heils; Gundula Leschik; Christian Becker; Franz Rüschendorf; Klaus Rohde; Stefan Mundlos; Peter Nürnberg
Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy.
Epilepsy research 2002;51(3):249-55.
2002: Fred B Bercovitch; Anja Widdig; John D Berard; Peter Nürnberg; Matt J Kessler; Jörg Schmidtke; Andrea Trefilov; Michael Krawczak
Multiple sirehood in free-ranging twin rhesus macaques (Macaca mulatta).
American journal of primatology 2002;57(1):31-4.
2002: Jochen Hampe; Henning Frenzel; Muddassar M Mirza; Peter J P Croucher; Andrew P Cuthbert; Silvia Mascheretti; Klaus Huse; Matthias Platzer; Stephen Bridger; Birgit Meyer; Peter Nürnberg; Pieter C F Stokkers; Michael Krawczak; Christopher G Mathew; Mark Curran; Stefan Schreiber
Evidence for a NOD2-independent susceptibility locus for inflammatory bowel disease on chromosome 16p.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(1):321-6.
2001: Anja Widdig; Peter Nürnberg; Michael Krawczak; Wolf Jürgen Streich; Fred B Bercovitch
Paternal relatedness and age proximity regulate social relationships among adult female rhesus macaques.
Proceedings of the National Academy of Sciences of the United States of America 2001;98(24):13769-73.
2001: M Luijten; R Fahsold; Claudia Mischung; Andries Westerveld; Peter Nürnberg; Theo J M Hulsebos
Limited contribution of interchromosomal gene conversion to NF1 gene mutation.
Journal of medical genetics 2001;38(7):481-5.
2001: HS Braun; Peter Nürnberg; Sigrid Tinschert
Metaphyseal dysplasia: a new autosomal dominant type in a large German kindred.
American journal of medical genetics 2001;101(1):74-7.
2001: D Chandler; Sigrid Tinschert; K Lohan; Karen Harrop; Jack Goldblatt; M Nagy; S Hummel; HS Braun; N Laing; Peter Nürnberg
Refinement of the chromosome 5p locus for craniometaphyseal dysplasia.
Human genetics 2001;108(5):394-7.
2001: Peter Nürnberg; H Thiele; D Chandler; Wolfgang Ernst Hoehne; Michael L Cunningham; Heide Ritter; Gundula Leschik; Karen Uhlmann; Claudia Mischung; Karen Harrop; Jack Goldblatt; Z U Borochowitz; Dieter Kotzot; F Westermann; Stefan Mundlos; HS Braun; N Laing; Sigrid Tinschert
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.
Nature genetics 2001;28(1):37-41.
2001: Ulrike Sauermann; Peter Nürnberg; Fred B Bercovitch; John D Berard; Andrea Trefilov; Anja Widdig; M Kessler; Jörg Schmidtke; Michael Krawczak
Increased reproductive success of MHC class II heterozygous males among free-ranging rhesus macaques.
Human genetics 2001;108(3):249-54.
2000: Dieter E Jenne; Sigrid Tinschert; E Stegmann; Heike Reimann; Peter Nürnberg; Denise Horn; I Naumann; Annegret Buske; G Thiel
A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions.
Genomics 2000;66(1):93-7.
2000: Jochen Hampe; T Wienker; Peter Nürnberg; Stefan Schreiber
Mapping genes for polygenic disorders: considerations for study design in the complex trait of inflammatory bowel disease.
Human heredity 2000;50(2):91-101.
2000: R Fahsold; Sven Hoffmeyer; Claudia Mischung; C Gille; C Ehlers; N Kücükceylan; M Abdel-Nour; Andreas Gewies; Hartmut Peters; Dieter Kaufmann; Annegret Buske; Sigrid Tinschert; Peter Nürnberg
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
American journal of human genetics 2000;66(3):790-818.
2000: Mohammad R Toliat; F Erdogan; Andreas Gewies; R Fahsold; Annegret Buske; Sigrid Tinschert; Peter Nürnberg
Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.
Electrophoresis 2000;21(3):541-4.
1999: A Harder; K Jendroska; F Kreuz; T Wirth; C Schafranka; N Karnatz; A Théallier-Janko; J Dreier; K Lohan; D Emmerich; J Cervós-Navarro; Otto Windl; Hans A Kretzschmar; Peter Nürnberg; R Witkowski
Novel twelve-generation kindred of fatal familial insomnia from germany representing the entire spectrum of disease expression.
American journal of medical genetics 1999;87(4):311-6.
1999: Annegret Buske; Andreas Gewies; R Lehmann; K Rüther; Bernd Algermissen; Peter Nürnberg; Sigrid Tinschert
Recurrent NF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1).
American journal of medical genetics 1999;86(4):328-30.
1999: Karen Uhlmann; Karola Marczinek; J Hampe; Gundula Thiel; Peter Nürnberg
Changes in methylation patterns identified by two-dimensional DNA fingerprinting.
Electrophoresis 1999;20(8):1748-55.
1999: Sigrid Tinschert; H Gerl; Andreas Gewies; H P Jung; Peter Nürnberg
McCune-Albright syndrome: clinical and molecular evidence of mosaicism in an unusual giant patient.
American journal of medical genetics 1999;83(2):100-8.
1999: A Klose; Hartmut Peters; Sven Hoffmeyer; Annegret Buske; A Lüder; D Hess; R Lehmann; Peter Nürnberg; Sigrid Tinschert
Two independent mutations in a family with neurofibromatosis type 1 (NF1).
American journal of medical genetics 1999;83(1):6-12.
1999: Jochen Hampe; Stefan Schreiber; Sarah H Shaw; K F Lau; Stephen Bridger; Andrew J S Macpherson; LR Cardon; H Sakul; T J Harris; AJ Buckler; J Hall; Pieter C F Stokkers; SJ Van Deventer; Peter Nürnberg; Muddassar M Mirza; J C Lee; John E Lennard-Jones; Christopher G Mathew; Mark E Curran
A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort.
American journal of human genetics 1999;64(3):808-16.
1998: A Klose; Mohammad Reza Ahmadian; Markus Schuelke; Klaus Scheffzek; Sven Hoffmeyer; Andreas Gewies; F Schmitz; Dieter Kaufmann; Hartmut Peters; A Wittinghofer; Peter Nürnberg
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
Human molecular genetics 1998;7(8):1261-8.
1998: Christoph Gille; A Gille; Patrick Booms; Peter Robinson; Peter Nürnberg
Bipolar clamping improves the sensitivity of mutation detection by temperature gradient gel electrophoresis.
Electrophoresis 1998;19(8-9):1347-50.
1998: Karola Marczinek; J Hampe; Karen Uhlmann; Gundula Thiel; I Barth; Ralf Mrowka; S Vogel; Peter Nürnberg
Genomic difference analysis by two-dimensional DNA fingerprinting reveals typical changes in human low-grade gliomas.
Glia 1998;23(2):130-8.
1998: Sven Hoffmeyer; Peter Nürnberg; H Ritter; R Fahsold; Werner Leistner; Dieter Kaufmann; Winfrid Krone
Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.
American journal of human genetics 1998;62(2):269-77.
1998: Peter Nürnberg; Ulrike Sauermann; M Kayser; C Lanfer; E Manz; Anja Widdig; John D Berard; Fred B Bercovitch; M Kessler; Jörg Schmidtke; Michael Krawczak
Paternity assessment in rhesus macaques (Macaca mulatta): multilocus DNA fingerprinting and PCR marker typing.
American journal of primatology 1998;44(1):1-18.
1997: J Hampe; Ralf Mrowka; Karola Marczinek; Peter Nürnberg
A novel standardization method for two-dimensional DNA fingerprints.
Electrophoresis 1997;18(15):2874-9.
1997: Peter Nürnberg; Sigrid Tinschert; M Mrug; J Hampe; C R Müller; E Fuhrmann; HS Braun; André Reis
The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene.
American journal of human genetics 1997;61(4):918-23.
1997: Fred B Bercovitch; Peter Nürnberg
Genetic determination of paternity and variation in male reproductive success in two populations of rhesus macaques.
Electrophoresis 1997;18(9):1701-5.
1997: Karola Marczinek; A Sugiyama; J Hampe; Gundula Thiel; K Lehmann; R Neumann; W J de Leeuw; Peter Nürnberg
Cloning of minisatellite-containing sequences from two-dimensional DNA fingerprinting gels reveals the identity of genomic alterations in low-grade gliomas of different patients.
Electrophoresis 1997;18(9):1586-91.
1997: Hartmut Meierkord; Peter Nürnberg; A Mainz; Karola Marczinek; M Mrug; J Hampe
'Complicated' autosomal dominant familial spastic paraplegia is genetically distinct from 'pure' forms.
Archives of neurology 1997;54(4):379-84.
1997: Annett Böddrich; Peter Robinson; M Schülke; Annegret Buske; Sigrid Tinschert; Peter Nürnberg
New evidence for a mutation hotspot in exon 37 of the NF1 gene.
Human mutation 1997;9(4):374-7.
1996: D Horn; Peter Robinson; A Böddrich; Annegret Buske; Sigrid Tinschert; Peter Nürnberg
Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8.
Electrophoresis 1996;17(10):1559-63.
1996: Fred B Bercovitch; Peter Nürnberg
Socioendocrine and morphological correlates of paternity in rhesus macaques (Macaca mulatta).
Journal of reproduction and fertility 1996;107(1):59-68.
1996: J Hampe; Karola Marczinek; A Preuss; Peter Nürnberg
Marker pattern instabilities as a major cause of reproducibility problems in two-dimensional DNA fingerprinting.
Electrophoresis 1996;17(4):659-66.
1996: Frank Rauch; C Lenzner; Peter Nürnberg; Cornelius Frömmel; U Vetter
A novel mutation in the coding region for neurophysin-II is associated with autosomal dominant neurohypophyseal diabetes insipidus.
Clinical endocrinology 1996;44(1):45-51.
1996: Peter Robinson; Annegret Buske; R Neumann; Sigrid Tinschert; Peter Nürnberg
Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis.
Human mutation 1996;7(1):85-8.
1995: A Böddrich; J Griesser; D Horn; Dieter Kaufmann; Winfrid Krone; Peter Nürnberg
Reduced neurofibromin content but normal GAP activity in a patient with neurofibromatosis type 1 caused by a five base pair duplication in exon 12b of the NF1 gene.
Biochemical and biophysical research communications 1995;214(3):895-904.
1995: Peter Nürnberg; Karola Marczinek; Gundula Thiel; J Hampe
Parallel genome analysis by one- and two-dimensional DNA fingerprinting in human gliomas.
Electrophoresis 1995;16(9):1715-25.
1995: Manfred Kayser; Peter Nürnberg; Fred B Bercovitch; M Nagy; Lutz Roewer
Increased microsatellite variability in Macaca mulatta compared to humans due to a large scale deletion/insertion event during primate evolution.
Electrophoresis 1995;16(9):1607-11.
1995: Sven Hoffmeyer; Günter Assum; J Griesser; Dieter Kaufmann; Peter Nürnberg; Winfrid Krone
On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1.
Human molecular genetics 1995;4(8):1267-72.
1995: Peter Robinson; A Böddrich; Hartmut Peters; Sigrid Tinschert; Annegret Buske; Dieter Kaufmann; Peter Nürnberg
Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene.
Human genetics 1995;96(1):95-8.
1994: C Lenzner; Peter Nürnberg; Bernd-Joachim Thiele; A Reis; V Brabec; A Sakalova; G Jacobasch
Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia.
Blood 1994;83(10):2817-22.
1994: M Gomolka; Joachim Hundrieser; Peter Nürnberg; Lutz Roewer; J T Epplen; C Epplen
Selected di- and tetranucleotide microsatellites from chromosomes 7, 12, 14, and Y in various Eurasian populations.
Human genetics 1994;93(5):592-6.
1994: C Epplen; G Frank; M Gomolka; M Nagy; Peter Nürnberg; J T Epplen
Dinucleotide repeat polymorphism in the IL2 and IL5RA genes.
Human molecular genetics 1994;3(4):679.
1994: C Lenzner; G Jacobasch; A Reis; B Thiele; Peter Nürnberg
Trinucleotide repeat polymorphism at the PKLR locus.
Human molecular genetics 1994;3(3):523.
1993: Michael Krawczak; I Böhm; Peter Nürnberg; J Hampe; Joachim Hundrieser; H Pöche; C Peters; Ryszard Slomski; J Kwiatkowska; M Nagy
Paternity testing with oligonucleotide multilocus probe (CAC)5/(GTG)5: a multicenter study.
Forensic science international 1993;59(2):101-17.
1993: Peter Nürnberg; G Thiel; F Weber; J T Epplen
Changes of telomere lengths in human intracranial tumours.
Human genetics 1993;91(2):190-2.
1993: Peter Nürnberg; J D Berard; Fred B Bercovitch; J T Epplen; J Schmidtke; Michael Krawczak
Oligonucleotide fingerprinting of free-ranging and captive rhesus macaques from Cayo Santiago: paternity assignment and comparison of heterozygosity.
EXS 1993;67():445-51.
1993: I Böhm; Michael Krawczak; Peter Nürnberg; J Hampe; Joachim Hundrieser; H Pöche; C Peters; Ryszard Slomski; J Kwiatkowska; M Nagy
Oligonucleotide DNA fingerprinting: results of a multi-center study on reliability and validity.
EXS 1993;67():257-60.
1992: Joachim Hundrieser; Peter Nürnberg; A E Czeizel; J Métneki; S Rothgänger; H Zischler; J T Epplen
Characterization of hypervariable locus-specific probes derived from a (CAC)5/(GTG)5 multilocus fingerprint in various Eurasian populations.
Human genetics 1992;90(1-2):27-33.
1991: Peter Nürnberg; H Zischler; E Fuhrmann; Gundula Thiel; T Losanova; D Kinzel; G Nisch; R Witkowski; J T Epplen
Coamplification of simple repetitive DNA fingerprint fragments and the EGFR gene in human gliomas.
Genes, chromosomes & cancer 1991;3(2):79-88.
1991: Peter Nürnberg; I Barth; E Fuhrmann; C Lenzner; T Losanova; C Peters; H Pöche; Gundula Thiel
Monitoring genomic alterations with a panel of oligonucleotide probes specific for various simple repeat motifs.
Electrophoresis 1991;12(2-3):186-92.
1991: Heidemarie Neitzel; Martin Digweed; Peter Nürnberg; A Pöpperl; C A Schmidt; Sigrid Tinschert; Karl Sperling
Routine applications of DNA fingerprinting with the oligonucleotide probe (CAC)5/(GTG)5.
Clinical genetics 1991;39(2):97-103.
1990: Lutz Roewer; Peter Nürnberg; E Fuhrmann; M Rose; O Prokop; J T Epplen
Stain analysis using oligonucleotide probes specific for simple repetitive DNA sequences.
Forensic science international 1990;47(1):59-70.
1989: Peter Nürnberg; Lutz Roewer; Heidemarie Neitzel; Karl Sperling; A Pöpperl; Joachim Hundrieser; H Pöche; C Epplen; H Zischler; J T Epplen
DNA fingerprinting with the oligonucleotide probe (CAC)5/(GTG)5: somatic stability and germline mutations.
Human genetics 1989;84(1):75-8.
1989: Olaf Riess; A Michel; W Berger; Peter Nürnberg; J T Epplen; Astrid Speer; Charles Coutelle
RFLP-discordance within the human phenylalanine hydroxylase locus.
Human genetics 1989;83(2):199-201.
1983: Peter Nürnberg; G Jacobasch; F Noll; B Thiele
One-step purification of L-type pyruvate kinase by microimmunoaffinity chromatography.
Biomedica biochimica acta 1983;42(11-12):S283-6.