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Bernhard Horsthemke

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Tea Berulava; Ludger Klein-Hitpass; Emil Mladenov; Ulrich Rüther; Jürgen Thomale; Matthias Ziehe; Bernhard Horsthemke
FTO levels affect RNA modification and the transcriptome.
Jasmin Beygo; Karin Buiting; Flavia Cerrato; Margherita Cirillo Silengo; Valentina Citro; Maria Vittoria Cubellis; Agostina De Crescenzo; Thorsten Enklaar; Notker Graf; Andrea Guala; Melanie Heitmann; Bernhard Horsthemke; Dirk Prawitt; Katrin Rademacher; Cecilia Anichini; Angela Sparago; Andrea Riccio
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.
Lisa C Neumann; Karin Buiting; Daniel Hoffmann; Yolanda Markaki; Emil Mladenov; Bernhard Horsthemke
The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein.

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2013: Tea Berulava; Ludger Klein-Hitpass; Emil Mladenov; Ulrich Rüther; Jürgen Thomale; Matthias Ziehe; Bernhard Horsthemke
FTO levels affect RNA modification and the transcriptome.
European journal of human genetics : EJHG 2013;21(3):317-23.
2013: Jasmin Beygo; Karin Buiting; Flavia Cerrato; Margherita Cirillo Silengo; Valentina Citro; Maria Vittoria Cubellis; Agostina De Crescenzo; Thorsten Enklaar; Notker Graf; Andrea Guala; Melanie Heitmann; Bernhard Horsthemke; Dirk Prawitt; Katrin Rademacher; Cecilia Anichini; Angela Sparago; Andrea Riccio
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.
Human molecular genetics 2013;22(3):544-57.
2012: Lisa C Neumann; Karin Buiting; Daniel Hoffmann; Yolanda Markaki; Emil Mladenov; Bernhard Horsthemke
The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein.
Human molecular genetics 2012;21(18):4038-48.
2012: Bernhard Horsthemke
Waddington's epigenetic landscape and post-Darwinian biology.
BioEssays : news and reviews in molecular, cellular and developmental biology 2012;34(8):711-2.
2012: Corinna Grasemann; Marc Grynpas; Berthold P Hauffa; Ralf Herrmann; Bernhard Horsthemke; Christina Alm; Mary L Bouxsein; Maureen J Devlin; Paulina A Rzeczkowska; Mark R Palmert
Parental diabetes: the Akita mouse as a model of the effects of maternal and paternal hyperglycemia in wildtype offspring.
PloS one 2012;7(11):e50210.
2012: Peter Kuehnen; Susanne Lau; Young-Ae Lee; Mona Mischke; Christine Sers; Susanna Wiegand; Annette Grueters; Bernhard Horsthemke; Thomas Keil; Heiko Krude
An Alu element-associated hypermethylation variant of the POMC gene is associated with childhood obesity.
PLoS genetics 2012;8(3):e1002543.
2011: Stefan Boehringer; Monique M B Breteler; Manuel Günther; Ruth Herberz; Albert Hofman; Bernhard Horsthemke; Stefan Klein; Fan Liu; Kerstin U Ludwig; Elisabeth Mangold; Wiro J Niessen; Markus M Nöthen; Stefanie Nowak; Stella Sinigerova; Andre G Uitterlinden; Fedde van der Lijn; Aad van Der Lugt; Dagmar Wieczorek; Rolf P Würtz; Manfred Kayser
Genetic determination of human facial morphology: links between cleft-lips and normal variation.
European journal of human genetics : EJHG 2011;19(11):1192-7.
2011: Stefan Boehringer; Manuel Guenther; Bernhard Horsthemke; Stella Sinigerova; Rolf P Wurtz; Dagmar Wieczorek
Automated syndrome detection in a set of clinical facial photographs.
American journal of medical genetics. Part A 2011;155A(9):2161-9.
2011: Ann-Kathrin Bittner; Bernhard Horsthemke; Elke Winterhager; Ruth Grümmer
Hormone-induced delayed ovulation affects early embryonic development.
Fertility and sterility 2011;95(7):2390-4.
2011: Maggie Eidson; Bernhard Horsthemke; Aimee M Beaulieu; Steven E Carsons; Peggy K Crow; Justin Wahlstrom; Dagmar Wieczorek; Jedd D Wolchok; Jianda Yuan; Bushra Zaidi; Derek B Sant'Angelo
Altered development of NKT cells, γδ T cells, CD8 T cells and NK cells in a PLZF deficient patient.
PloS one 2011;6(9):e24441.
2011: Lisa C Neumann; Stefanie Thomas; Andreas Weinhaeusel; Bernhard Horsthemke; Dietmar R Lohmann; Michael Zeschnigk
EFS shows biallelic methylation in uveal melanoma with poor prognosis as well as tissue-specific methylation.
BMC cancer 2011;11():380.
2011: Bernhard Horsthemke; Michaela Wawrzik; Stephanie Gross; Christina Lich; Birgitta Sauer; Imma Rost; Ernst Krasemann; Nadezda Kosyakova; Thomas Liehr; Anja Weise; J Nikolaj Dybowski; Daniel Hoffmann; Dagmar Wieczorek
Parental origin and functional relevance of a de novo UBE3A variant.
European journal of medical genetics 2011;54(1):19-24.
2010: Sonali Pechlivanis; André Scherag; Thomas W Mühleisen; Stefan Möhlenkamp; Bernhard Horsthemke; Tanja Boes; Martina Bröcker-Preuss; Klaus Mann; Raimund Erbel; Karl-Heinz Jöckel; Markus M Nöthen; Susanne Moebus
Coronary artery calcification and its relationship to validated genetic variants for diabetes mellitus assessed in the Heinz Nixdorf recall cohort.
Arteriosclerosis, thrombosis, and vascular biology 2010;30(9):1867-72.
2010: Tea Berulava; Bernhard Horsthemke
The obesity-associated SNPs in intron 1 of the FTO gene affect primary transcript levels.
European journal of human genetics : EJHG 2010;18(9):1054-6.
2010: Bernhard Horsthemke
Mechanisms of imprint dysregulation.
American journal of medical genetics. Part C, Seminars in medical genetics 2010;154C(3):321-8.
2010: Karin Buiting; Deniz Kanber; Bernhard Horsthemke; Dietmar Lohmann
Imprinting of RB1 (the new kid on the block).
Briefings in functional genomics 2010;9(4):347-53.
2010: Tea Berulava; Bernhard Horsthemke
Comment on: Jowett et al. (2010) Genetic variation at the FTO locus influences RBL2 gene expression. Diabetes;59:726-732.
Diabetes 2010;59(7):e9; author reply e10.
2010: Alma Kuechler; Berthold P Hauffa; Angela Köninger; Gunnar Kleinau; Beate Albrecht; Bernhard Horsthemke; Jörg Gromoll
An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance.
European journal of human genetics : EJHG 2010;18(6):656-61.
2010: Michaela Wawrzik; Unga Arifa Unmehopa; Dick F Swaab; Johannes van de Nes; Karin Buiting; Bernhard Horsthemke
The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection.
Neurogenetics 2010;11(2):153-61.
2010: Cyrus Khandanpour; Christian Thiede; Peter J M Valk; Ehssan Sharif-Askari; Holger Nückel; Dietmar Lohmann; Bernhard Horsthemke; Winfried Siffert; Andreas Neubauer; Karl-Heinz Grzeschik; Clara D Bloomfield; Guido Marcucci; Kati Maharry; Marilyn L Slovak; Bert A van der Reijden; Joop H Jansen; Hans K Schackert; Khashayar Afshar; Susanne Schnittger; Justine K Peeters; Frank Kroschinsky; Gerhard Ehninger; Bob Lowenberg; Ulrich Dührsen; Tarik Möröy
A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemia.
Blood 2010;115(12):2462-72.
2010: Anna Kosubek; Ludger Klein-Hitpass; Katrin Rademacher; Bernhard Horsthemke; Gerhart U Ryffel
Aging of Xenopus tropicalis eggs leads to deadenylation of a specific set of maternal mRNAs and loss of developmental potential.
PloS one 2010;5(10):e13532.
2009: Deniz Kanber; Tea Berulava; Ole Ammerpohl; Diana Mitter; Julia Richter; Reiner Siebert; Bernhard Horsthemke; Dietmar Lohmann; Karin Buiting
The human retinoblastoma gene is imprinted.
PLoS genetics 2009;5(12):e1000790.
2009: Michaela Wawrzik; Andrej-Nikolai Spiess; Ralf Herrmann; Karin Buiting; Bernhard Horsthemke
Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis.
European journal of human genetics : EJHG 2009;17(11):1463-70.
2009: Deniz Kanber; Jacques Giltay; Dagmar Wieczorek; Corinna Zogel; Ron Hochstenbach; Almuth Caliebe; Alma Kuechler; Bernhard Horsthemke; Karin Buiting
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome.
European journal of human genetics : EJHG 2009;17(5):582-90.
2009: Michael Zeschnigk; Marcel Martin; Gisela Betzl; Andreas Kalbe; Caroline Sirsch; Karin Buiting; Stephanie Gross; Epameinondas Fritzilas; Bruno Frey; Sven Rahmann; Bernhard Horsthemke
Massive parallel bisulfite sequencing of CG-rich DNA fragments reveals that methylation of many X-chromosomal CpG islands in female blood DNA is incomplete.
Human molecular genetics 2009;18(8):1439-48.
2009: Bernhard Horsthemke
Of wolves and men: the role of paternal child care in the evolution of genomic imprinting.
European journal of human genetics : EJHG 2009;17(3):273-4.
2008: Karin Buiting; Deniz Kanber; José I Martín-Subero; Wolfgang Lieb; Paulien Terhal; Beate Albrecht; Sabine Purmann; Stephanie Gross; Christina Lich; Reiner Siebert; Bernhard Horsthemke; Gabriele Gillessen-Kaesbach
Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster.
Human mutation 2008;29(9):1141-6.
2008: Bernhard Horsthemke; Joseph Wagstaff
Mechanisms of imprinting of the Prader-Willi/Angelman region.
American journal of medical genetics. Part A 2008;146A(16):2041-52.
2008: Michael Zeschnigk; Beate Albrecht; Karin Buiting; Deniz Kanber; Thomas Eggermann; Gerhard Binder; Jörg Gromoll; Eva-Christina Prott; Saskia Seland; Bernhard Horsthemke
IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia.
European journal of human genetics : EJHG 2008;16(3):328-34.
2008: Bernhard Horsthemke; Karin Buiting
Genomic imprinting and imprinting defects in humans.
Advances in genetics 2008;61():225-46.
2008: Tobias Vollmar; Baerbel Maus; Robert Wurtz; Gabriele Gillessen-Kaesbach; Bernhard Horsthemke; Dagmar Wieczorek; Stefan Boehringer
Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces.
European journal of medical genetics 2008;51(1):44-53.
2008: J Rauch; Tobias A Knoch; Irina Solovei; Kathrin Teller; Stefan Stein; Karin Buiting; Bernhard Horsthemke; Jörg Langowski; Thomas Cremer; Michael Hausmann; Christoph Cremer
Light optical precision measurements of the active and inactive Prader-Willi syndrome imprinted regions in human cell nuclei.
Differentiation; research in biological diversity 2008;76(1):66-82.
2007: Bernhard Horsthemke
Rhythm is not enough.
Nature genetics 2007;39(10):1190-1.
2007: Kathrin Teller; Irina Solovei; Karin Buiting; Bernhard Horsthemke; Thomas Cremer
Maintenance of imprinting and nuclear architecture in cycling cells.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(38):14970-5.
2007: Bernhard Horsthemke
Heritable germline epimutations in humans.
Nature genetics 2007;39(5):573-4; author reply 575-6.
2007: Karin Buiting; Hülya Nazlican; Danuta Galetzka; Michaela Wawrzik; Stephanie Gross; Bernhard Horsthemke
C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain.
Genomics 2007;89(5):588-95.
2007: Dagmar Wieczorek; Michael Ludwig; Stefan Boehringer; Piet Hein Jongbloet; Gabriele Gillessen-Kaesbach; Bernhard Horsthemke
Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome.
Human genetics 2007;121(3-4):369-76.
2006: Stefan Boehringer; Tobias Vollmar; Christiane Tasse; Rolf P Wurtz; Gabriele Gillessen-Kaesbach; Bernhard Horsthemke; Dagmar Wieczorek
Syndrome identification based on 2D analysis software.
European journal of human genetics : EJHG 2006;14(10):1082-9.
2006: Corinna Zogel; Stefan Boehringer; Stephanie Gross; Raymonda Varon; Karin Buiting; Bernhard Horsthemke
Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15.
European journal of human genetics : EJHG 2006;14(6):752-8.
2006: Pawel Stankiewicz; Alma Kuechler; C Daniel Eller; Trilochan Sahoo; Christiane Baldermann; Ulla Lieser; Martin Hesse; Christiane Gläser; Monika Hagemann; Svetlana A Yatsenko; Thomas Liehr; Bernhard Horsthemke; Uwe Claussen; York Marahrens; James R Lupski; Ingo Hansmann
Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation.
American journal of medical genetics. Part A 2006;140(5):442-52.
2006: Sven Fischer; Hermann-Josef Lüdecke; Dagmar Wieczorek; Stefan Boehringer; Gabriele Gillessen-Kaesbach; Bernhard Horsthemke
Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum.
Human molecular genetics 2006;15(4):581-7.
2006: Bernhard Horsthemke
Epimutations in human disease.
Current topics in microbiology and immunology 2006;310():45-59.
2006: Bernhard Horsthemke; Karin Buiting
Imprinting defects on human chromosome 15.
Cytogenetic and genome research 2006;113(1-4):292-9.
2005: Dietmar R Lohmann; Thomas Häusler; Bernhard Horsthemke; Michael Zeschnigk
Minimal region of deletion on chromosomal arm 3p25.1-p25.2 in uveal melanoma.
Cancer research 2005;65(22):10634; author reply 10634.
2005: Thomas Häusler; Andreas Stang; Gerasimos Anastassiou; Karl-Heinz Jöckel; Stefanie Mrzyk; Bernhard Horsthemke; Dietmar R Lohmann; Michael Zeschnigk
Loss of heterozygosity of 1p in uveal melanomas with monosomy 3.
International journal of cancer. Journal international du cancer 2005;116(6):909-13.
2005: Sandrine Gratias; Andreas Schüler; Ludger Klein Hitpass; Harald Stephan; Harald Rieder; Stephanie Schneider; Bernhard Horsthemke; Dietmar R Lohmann
Genomic gains on chromosome 1q in retinoblastoma: consequences on gene expression and association with clinical manifestation.
International journal of cancer. Journal international du cancer 2005;116(4):555-63.
2005: Bernhard Horsthemke; Michael Ludwig
Assisted reproduction: the epigenetic perspective.
Human reproduction update 2005;11(5):473-82.
2005: Eva Wey; Deborah Bartholdi; Mariluce Riegel; Hülya Nazlican; Bernhard Horsthemke; Albert Schinzel; Alessandra Baumer
Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome.
European journal of human genetics : EJHG 2005;13(3):273-7.
2005: Maren Runte; Raymonda Varon; Denise Horn; Bernhard Horsthemke; Karin Buiting
Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome.
Human genetics 2005;116(3):228-30.
2004: Hülya Nazlican; Michael Zeschnigk; Uwe Claussen; Susanne Michel; Stefan Boehringer; Gabriele Gillessen-Kaesbach; Karin Buiting; Bernhard Horsthemke
Somatic mosaicism in patients with Angelman syndrome and an imprinting defect.
Human molecular genetics 2004;13(21):2547-55.
2004: Maren Runte; Peter M Kroisel; Gabriele Gillessen-Kaesbach; Raymonda Varon; Denise Horn; Monika Y Cohen; Joseph Wagstaff; Bernhard Horsthemke; Karin Buiting
SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome.
Human genetics 2004;114(6):553-61.
2004: Frank J Kaiser; Paola Brega; Michael L Raff; Peter H Byers; Sabina Gallati; Teresa Taylor Kay; Salomé de Almeida; Bernhard Horsthemke; Hermann-Josef Lüdecke
Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.
European journal of human genetics : EJHG 2004;12(2):121-6.
2003: Bernhard Horsthemke; Christina Lich; Karin Buiting; Roland Achmann; Christa Aulehla-Scholz; Alessandra Baumer; Joachim Bürger; Bernd Dworniczak; Dieter Gläser; Elke Holinski-Feder; Bart Janssen; Stephanie Kleinle; Lothar Kochhan; Ernst Krasemann; Cornelia Kraus; Peter M Kroisel; Hansjörg Plendl; Sabine Purmann; Gabriele Sander; Heyko Skladny; Eva Spitzer; Barbara Thamm-Mücke; Raymonda Varon-Mateeva; Andreas Weinhaeusel; Helga Weirich
Problems in detecting mosaic DNA methylation in Angelman syndrome.
European journal of human genetics : EJHG 2003;11(12):913-5.
2003: Bernhard Horsthemke; Hülya Nazlican; Johannes Hüsing; Ludger Klein-Hitpass; Uwe Claussen; Susanne Michel; Christina Lich; Gabriele Gillessen-Kaesbach; Karin Buiting
Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes.
Human molecular genetics 2003;12(20):2723-32.
2003: Frank J Kaiser; Tarik Möröy; Glenn T G Chang; Bernhard Horsthemke; Hermann-Josef Lüdecke
The RING finger protein RNF4, a co-regulator of transcription, interacts with the TRPS1 transcription factor.
The Journal of biological chemistry 2003;278(40):38780-5.
2003: Hartmut S Loos; Dagmar Wieczorek; Rolf P Würtz; Christoph von der Malsburg; Bernhard Horsthemke
Computer-based recognition of dysmorphic faces.
European journal of human genetics : EJHG 2003;11(8):555-60.
2003: Frank J Kaiser; Kamiab Tavassoli; Gert-Jan Van den Bemd; Glenn T G Chang; Bernhard Horsthemke; Tarik Möröy; Hermann-Josef Lüdecke
Nuclear interaction of the dynein light chain LC8a with the TRPS1 transcription factor suppresses the transcriptional repression activity of TRPS1.
Human molecular genetics 2003;12(11):1349-58.
2003: Frank Tschentscher; Johannes Hüsing; Tanja Hölter; Elisabeth Kruse; Irina Gana Dresen; Karl-Heinz Jöckel; Gerasimos Anastassiou; Harald Schilling; Norbert Bornfeld; Bernhard Horsthemke; Dietmar R Lohmann; Michael Zeschnigk
Tumor classification based on gene expression profiling shows that uveal melanomas with and without monosomy 3 represent two distinct entities.
Cancer research 2003;63(10):2578-84.
2003: Karin Buiting; Stephanie Gross; Christina Lich; Gabriele Gillessen-Kaesbach; Osman El-Maarri; Bernhard Horsthemke
Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect.
American journal of human genetics 2003;72(3):571-7.
2003: Michael Zeschnigk; Frank Tschentscher; Christina Lich; Birgit Brandt; Bernhard Horsthemke; Dietmar R Lohmann
Methylation analysis of several tumour suppressor genes shows a low frequency of methylation of CDKN2A and RARB in uveal melanomas.
Comparative and functional genomics 2003;4(3):329-36.
2002: Gerald F Cox; Joachim Bürger; Va Lip; Ulrike A Mau; Karl Sperling; Bai-Lin Wu; Bernhard Horsthemke
Intracytoplasmic sperm injection may increase the risk of imprinting defects.
American journal of human genetics 2002;71(1):162-4.
2001: Maren Runte; Alexander Hüttenhofer; Stephanie Gross; Martin Kiefmann; Bernhard Horsthemke; Karin Buiting
The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A.
Human molecular genetics 2001;10(23):2687-700.
2001: Maren Runte; C Färber; Christina Lich; Michael Zeschnigk; T Buchholz; A Smith; L Van Maldergem; Joachim Bürger; F Muscatelli; Gabriele Gillessen-Kaesbach; Bernhard Horsthemke; Karin Buiting
Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15.
European journal of human genetics : EJHG 2001;9(7):519-26.
2001: Karin Buiting; Angela Barnicoat; Christina Lich; Marcus E Pembrey; S Malcolm; Bernhard Horsthemke
Disruption of the bipartite imprinting center in a family with Angelman syndrome.
American journal of human genetics 2001;68(5):1290-4.
2001: Frank Tschentscher; Gabriele Prescher; Douglas E Horsman; Valerie A White; Harald Rieder; Gerasimos Anastassiou; Harald Schilling; Norbert Bornfeld; K U Bartz-Schmidt; Bernhard Horsthemke; Dietmar R Lohmann; Michael Zeschnigk
Partial deletions of the long and short arm of chromosome 3 point to two tumor suppressor genes in uveal melanoma.
Cancer research 2001;61(8):3439-42.
2001: Osman El-Maarri; Karin Buiting; E G Peery; Peter M Kroisel; Basak Balaban; K Wagner; Bulent Urman; J Heyd; Christina Lich; Camilynn I Brannan; J Walter; Bernhard Horsthemke
Maternal methylation imprints on human chromosome 15 are established during or after fertilization.
Nature genetics 2001;27(3):341-4.
2001: S Herzog; Dietmar R Lohmann; Karin Buiting; Andreas Schüler; Bernhard Horsthemke; Helga Rehder; Harald Rieder
Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization.
Human genetics 2001;108(2):98-104.
2001: Jutta Wirth; E Back; Alexander Hüttenhofer; Hans Gerd Nothwang; Christina Lich; Stephanie Gross; Corinna Menzel; A Schinzel; P Kioschis; Niels Tommerup; Hans-Hilger Ropers; Bernhard Horsthemke; Karin Buiting
A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15.
Human molecular genetics 2001;10(3):201-10.
2000: Jérôme Cavaillé; Karin Buiting; Martin Kiefmann; M Lalande; Camilynn I Brannan; Bernhard Horsthemke; Jean-Pierre Bachellerie; Jürgen Brosius; Alexander Hüttenhofer
Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization.
Proceedings of the National Academy of Sciences of the United States of America 2000;97(26):14311-6.
2000: Frank Tschentscher; Gabriele Prescher; Michael Zeschnigk; Bernhard Horsthemke; Dietmar R Lohmann
Identification of chromosomes 3, 6, and 8 aberrations in uveal melanoma by microsatellite analysis in comparison to comparative genomic hybridization.
Cancer genetics and cytogenetics 2000;122(1):13-7.
2000: Karin Buiting; C Färber; Peter M Kroisel; K Wagner; L Brueton; M E Robertson; Christina Lich; Bernhard Horsthemke
Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counseling.
Clinical genetics 2000;58(4):284-90.
2000: Beata Bielinska; SM Blaydes; Karin Buiting; T Yang; Malgorzata Krajewska-Walasek; Bernhard Horsthemke; Camilynn I Brannan
De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch.
Nature genetics 2000;25(1):74-8.
2000: C Färber; Stephanie Gross; J Neesen; Karin Buiting; Bernhard Horsthemke
Identification of a testis-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15.
Genomics 2000;65(2):174-83.
2000: P Momeni; G Glöckner; O Schmidt; D von Holtum; Beate Albrecht; Gabriele Gillessen-Kaesbach; Raoul Hennekam; Peter Meinecke; B Zabel; A Rosenthal; Bernhard Horsthemke; Hermann-Josef Lüdecke
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.
Nature genetics 2000;24(1):71-4.
1999: Karin Buiting; Christina Lich; S Cottrell; Angela Barnicoat; Bernhard Horsthemke
A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp.
Human genetics 1999;105(6):665-6.
1999: O Schmidt; D von Holtum; Stephanie Gross; Bernhard Horsthemke; Hermann-Josef Lüdecke
The EIF3S3 gene encoding the p40 subunit of the translation initiation factor eIF3 has eight exons and maps to the Langer-Giedion syndrome chromosome region on 8q24, but is not the TRPS1 gene.
Human genetics 1999;105(6):662-4.
1999: Hermann-Josef Lüdecke; O Schmidt; J Nardmann; D von Holtum; Peter Meinecke; M Muenke; Bernhard Horsthemke
Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8.
Human genetics 1999;105(6):619-28.
1999: Eberhard Passarge; Bernhard Horsthemke; Rosann A Farber
Incorrect use of the term synteny.
Nature genetics 1999;23(4):387.
1999: Karin Buiting; B Dittrich; Bernd Dworniczak; Israela Lerer; Dvorah Abeliovich; S Cottrell; I K Temple; J F Harvey; Christina Lich; Stephanie Gross; Bernhard Horsthemke
A 28-kb deletion spanning D15S63 (PW71) in five families: a rare neutral variant?
American journal of human genetics 1999;65(6):1588-94.
1999: Michael Zeschnigk; Bernhard Horsthemke; Dietmar R Lohmann
Detection of homozygous deletions in tumors by hybridization of representational difference analysis (RDA) products to chromosome-specific YAC clone arrays.
Nucleic acids research 1999;27(21):e30.
1999: Michael Zeschnigk; Dietmar R Lohmann; Bernhard Horsthemke
A PCR test for the detection of hypermethylated alleles at the retinoblastoma locus.
Journal of medical genetics 1999;36(10):793-4.
1999: Gabriele Gillessen-Kaesbach; S Demuth; H Thiele; U Theile; Christina Lich; Bernhard Horsthemke
A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.
European journal of human genetics : EJHG 1999;7(6):638-44.
1999: MJ Walkowicz; Y Ji; X Ren; Bernhard Horsthemke; Liane B Russell; Dabney Johnson; Eugene M Rinchik; Robert D Nicholls; Lisa Stubbs
Molecular characterization of radiation- and chemically induced mutations associated with neuromuscular tremors, runting, juvenile lethality, and sperm defects in jdf2 mice.
Mammalian genome : official journal of the International Mammalian Genome Society 1999;10(9):870-8.
1999: Y Ji; MJ Walkowicz; Karin Buiting; Dabney K Johnson; R E Tarvin; Eugene M Rinchik; Bernhard Horsthemke; Lisa Stubbs; Robert D Nicholls
The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities.
Human molecular genetics 1999;8(3):533-42.
1999: Martina Klutz; Bernhard Horsthemke; Dietmar R Lohmann
RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma.
American journal of human genetics 1999;64(2):667-8.
1999: T Ohta; Todd A Gray; Peter K Rogan; Karin Buiting; JM Gabriel; S Saitoh; B Muralidhar; B Bilienska; Malgorzata Krajewska-Walasek; Daniel J Driscoll; Bernhard Horsthemke; Merlin G Butler; Robert D Nicholls
Imprinting-mutation mechanisms in Prader-Willi syndrome.
American journal of human genetics 1999;64(2):397-413.
1999: T Ohta; Karin Buiting; H Kokkonen; Shawn E McCandless; Shauna Heeger; H Leisti; Daniel J Driscoll; Suzanne B Cassidy; Bernhard Horsthemke; Robert D Nicholls
Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation.
American journal of human genetics 1999;64(2):385-96.
1999: C Färber; B Dittrich; Karin Buiting; Bernhard Horsthemke
The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion.
Human molecular genetics 1999;8(2):337-43.
1999: Karin Buiting; CG Körner; B Ulrich; E Wahle; Bernhard Horsthemke
The human gene for the poly(A)-specific ribonuclease (PARN) maps to 16p13 and has a truncated copy in the Prader-Willi/Angelman syndrome region on 15q11-->q13.
Cytogenetics and cell genetics 1999;87(1-2):125-31.
1999: Bernhard Horsthemke; A Surani; T James; R Ohlsson
The mechanisms of genomic imprinting.
Results and problems in cell differentiation 1999;25():91-118.
1998: Axel Schumacher; Karin Buiting; Michael Zeschnigk; Walter Doerfler; Bernhard Horsthemke
Methylation analysis of the PWS/AS region does not support an enhancer-competition model.
Nature genetics 1998;19(4):324-5.
1998: Robert D Nicholls; S Saitoh; Bernhard Horsthemke
Imprinting in Prader-Willi and Angelman syndromes.
Trends in genetics : TIG 1998;14(5):194-200.
1998: Karin Buiting; Stephanie Gross; Y Ji; G Senger; Robert D Nicholls; Bernhard Horsthemke
Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes.
Cytogenetics and cell genetics 1998;81(3-4):247-53.
1998: Winfried Siffert; Dieter Rosskopf; G Siffert; S Busch; A Moritz; R Erbel; Arya Sharma; E Ritz; H E Wichmann; Karl H Jakobs; Bernhard Horsthemke
Association of a human G-protein beta3 subunit variant with hypertension.
Nature genetics 1998;18(1):45-8.
1997: JM Conroy; T A Grebe; L A Becker; K Tsuchiya; Robert D Nicholls; Karin Buiting; Bernhard Horsthemke; Suzanne B Cassidy; Stuart Schwartz
Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.
American journal of human genetics 1997;61(2):388-94.
1997: Dietmar R Lohmann; M Gerick; B Brandt; U Oelschläger; B Lorenz; Eberhard Passarge; Bernhard Horsthemke
Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma.
American journal of human genetics 1997;61(2):282-94.
1997: Joachim Bürger; Karin Buiting; B Dittrich; Stephanie Gross; Christina Lich; Karl Sperling; Bernhard Horsthemke; André Reis
Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.
American journal of human genetics 1997;61(1):88-93.
1997: J Nardmann; L Tranebjaerg; Bernhard Horsthemke; Hermann-Josef Lüdecke
The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions.
Human genetics 1997;99(5):638-43.
1997: Dietmar R Lohmann; B Brandt; Eberhard Passarge; Bernhard Horsthemke
[Molecular genetics and diagnosis of retinoblastoma. Significance for ophthalmologic practice].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 1997;94(4):263-7.
1997: Michael Zeschnigk; Christina Lich; Karin Buiting; Walter Doerfler; Bernhard Horsthemke
A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus.
European journal of human genetics : EJHG 1997;5(2):94-8.
1997: Michael Zeschnigk; Birgit Schmitz; B Dittrich; Karin Buiting; Bernhard Horsthemke; Walter Doerfler
Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.
Human molecular genetics 1997;6(3):387-95.
1997: Hermann-Josef Lüdecke; J Ahn; X Lin; A Hill; MJ Wagner; L Schomburg; Bernhard Horsthemke; Dan E Wells
Genomic organization and promoter structure of the human EXT1 gene.
Genomics 1997;40(2):351-4.
1997: Karin Buiting; B Dittrich; S Endele; Bernhard Horsthemke
Identification of novel exons 3' to the human SNRPN gene.
Genomics 1997;40(1):132-7.
1997: S Saitoh; Karin Buiting; Suzanne B Cassidy; JM Conroy; Daniel J Driscoll; JM Gabriel; G Gillessen-Kaesbach; Christopher C Glenn; L R Greenswag; Bernhard Horsthemke; I Kondo; K Kuwajima; N Niikawa; Peter K Rogan; Stuart Schwartz; JR Seip; C A Williams; Robert D Nicholls
Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.
American journal of medical genetics 1997;68(2):195-206.
1997: Bernhard Horsthemke; B Dittrich; Karin Buiting
Imprinting mutations on human chromosome 15.
Human mutation 1997;10(5):329-37.
1997: Dietmar R Lohmann; Karin Buiting; Hermann-Josef Lüdecke; Bernhard Horsthemke
The murine Ext1 gene shows a high level of sequence similarity with its human homologue and is part of a conserved linkage group on chromosome 15.
Cytogenetics and cell genetics 1997;76(3-4):164-6.
1997: W P Robinson; Bernhard Horsthemke; S Leonard; S Malcolm; C Morton; Robert D Nicholls; R J Ritchie; Peter K Rogan; Roger A Schultz; S Schwartz; J Sharp; R Trent; R Wevrick; M Williamson; J H Knoll
Report of the Third International Workshop on Human Chromosome 15 Mapping 1996. October 25-27, 1996 in Vancouver B.C., Canada.
Cytogenetics and cell genetics 1997;76(1-2):1-13.
1996: T Kubota; James S Sutcliffe; S Aradhya; G Gillessen-Kaesbach; Susan L Christian; Bernhard Horsthemke; Arthur L Beaudet; David Ledbetter
Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome.
American journal of medical genetics 1996;66(1):77-80.
1996: Bernhard Horsthemke; anneke maat-kievit; E Sleegers; A van den Ouweland; Karin Buiting; Christina Lich; Paul Mollevanger; Geoffrey C Beverstock; Gabriele Gillessen-Kaesbach; Gesa Schwanitz
Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.
Journal of medical genetics 1996;33(10):848-51.
1996: B Dittrich; Karin Buiting; B Korn; S Rickard; Jessica Louise Buxton; S Saitoh; R D Nicholls; A Poustka; A Winterpacht; B Zabel; Bernhard Horsthemke
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene.
Nature genetics 1996;14(2):163-70.
1996: Wendy P Robinson; Sylvie Langlois; S Schuffenhauer; Bernhard Horsthemke; R C Michaelis; Susan L Christian; David Ledbetter; Albert Schinzel
Cytogenetic and age-dependent risk factors associated with uniparental disomy 15.
Prenatal diagnosis 1996;16(9):837-44.
1996: S Saitoh; Karin Buiting; Peter K Rogan; Jessica Louise Buxton; Daniel J Driscoll; J Arnemann; R König; S Malcolm; Bernhard Horsthemke; Robert D Nicholls
Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.
Proceedings of the National Academy of Sciences of the United States of America 1996;93(15):7811-5.
1996: G Prescher; Norbert Bornfeld; H Hirche; Bernhard Horsthemke; K H Jöckel; R Becher
Prognostic implications of monosomy 3 in uveal melanoma.
Lancet 1996;347(9010):1222-5.
1996: Dietmar R Lohmann; B Brandt; W Höpping; Eberhard Passarge; Bernhard Horsthemke
The spectrum of RB1 germ-line mutations in hereditary retinoblastoma.
American journal of human genetics 1996;58(5):940-9.
1996: B Dittrich; Karin Buiting; Bernhard Horsthemke
PW71 methylation test for Prader-Willi and Angelman syndromes.
American journal of medical genetics 1996;61(2):196-7.
1996: Karin Buiting; S Kaya-Westerloh; Bernhard Horsthemke
A pseudogene for the human ribosomal protein L5 (RPL5P1) maps within an intron of the SNRPN transcription unit on human chromosome 15.
Cytogenetics and cell genetics 1996;75(4):224-6.
1995: Dietmar R Lohmann; B Brandt; U Oehlschläger; E Göttmann; W Höpping; Eberhard Passarge; Bernhard Horsthemke
Molecular analysis and predictive testing in retinoblastoma.
Ophthalmic genetics 1995;16(4):135-42.
1995: Gabriele Gillessen-Kaesbach; W Robinson; D Lohmann; S Kaya-Westerloh; Eberhard Passarge; Bernhard Horsthemke
Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome.
Human genetics 1995;96(6):638-43.
1995: J Ahn; Hermann-Josef Lüdecke; S Lindow; W A Horton; B Lee; M J Wagner; Bernhard Horsthemke; Dan E Wells
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1).
Nature genetics 1995;11(2):137-43.
1995: Karin Buiting; S Saitoh; Stephanie Gross; B Dittrich; Stuart Schwartz; R D Nicholls; Bernhard Horsthemke
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.
Nature genetics 1995;9(4):395-400.
1995: Gabriele Gillessen-Kaesbach; Stephanie Gross; S Kaya-Westerloh; Eberhard Passarge; Bernhard Horsthemke
DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome.
Journal of medical genetics 1995;32(2):88-92.
1994: Dietmar R Lohmann; B Brandt; W Höpping; Eberhard Passarge; Bernhard Horsthemke
Spectrum of small length germline mutations in the RB1 gene.
Human molecular genetics 1994;3(12):2187-93.
1994: B Dittrich; Karin Buiting; Stephanie Gross; Bernhard Horsthemke
An insertion/deletion polymorphism at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-13.
Human genetics 1994;94(5):583-4.
1994: V Greger; N Debus; D Lohmann; W Höpping; Eberhard Passarge; Bernhard Horsthemke
Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma.
Human genetics 1994;94(5):491-6.
1994: Dietmar R Lohmann; B Brandt; W Höpping; Eberhard Passarge; Bernhard Horsthemke
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.
Human genetics 1994;94(4):349-54.
1994: Johannes Wienberg; Anna Jauch; Hermann-Josef Lüdecke; Gabriele Senger; Bernhard Horsthemke; Uwe Claussen; Thomas Cremer; Norbert Arnold; Christoph Lengauer
The origin of human chromosome 2 analyzed by comparative chromosome mapping with a DNA microlibrary.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 1994;2(5):405-10.
1994: Michael R Speicher; G Prescher; S du Manoir; Anna Jauch; Bernhard Horsthemke; Norbert Bornfeld; R Becher; Thomas Cremer
Chromosomal gains and losses in uveal melanomas detected by comparative genomic hybridization.
Cancer research 1994;54(14):3817-23.
1994: Karin Buiting; B Dittrich; Wendy P Robinson; M Guitart; Dvorah Abeliovich; Israela Lerer; Bernhard Horsthemke
Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications.
Human molecular genetics 1994;3(6):893-5.
1994: André Reis; B Dittrich; V Greger; Karin Buiting; M Lalande; Gabriele Gillessen-Kaesbach; M Anvret; Bernhard Horsthemke
Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.
American journal of human genetics 1994;54(5):741-7.
1994: Walter Bardenheuer; S Szymanski; A Lux; Hermann-Josef Lüdecke; Bernhard Horsthemke; Uwe Claussen; Gabriele Senger; David I Smith; N D Wang; D LePaslier
Characterization of a microdissection library from human chromosome region 3p14.
Genomics 1994;19(2):291-7.
1993: A Mutirangura; A Jayakumar; James S Sutcliffe; M Nakao; M J McKinney; Karin Buiting; Bernhard Horsthemke; Arthur L Beaudet; A Craig Chinault; David Ledbetter
A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.
Genomics 1993;18(3):546-52.
1993: B Dittrich; Karin Buiting; Stephanie Gross; Bernhard Horsthemke
Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region.
Human molecular genetics 1993;2(12):1995-9.
1993: Karin Buiting; B Dittrich; Stephanie Gross; V Greger; M Lalande; W Robinson; A Mutirangura; David Ledbetter; Bernhard Horsthemke
Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene.
Human molecular genetics 1993;2(12):1991-4.
1993: Christopher C Glenn; Robert D Nicholls; W P Robinson; S Saitoh; N Niikawa; A Schinzel; Bernhard Horsthemke; Daniel J Driscoll
Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients.
Human molecular genetics 1993;2(9):1377-82.
1993: B Dittrich; Stephanie Gross; Karin Buiting; Bernhard Horsthemke
An NciI RFLP at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-13.
Human molecular genetics 1993;2(9):1509.
1993: B La Pillo; Hermann-Josef Lüdecke; H J Thiesen; Bernhard Horsthemke
A BanII RFLP in the ZNF34 zinc finger gene on chromosome 8.
Human molecular genetics 1993;2(8):1331.
1993: Ferdinand von Eggeling; M Freytag; R Fahsold; Bernhard Horsthemke; Uwe Claussen
Rapid detection of trisomy 21 by quantitative PCR.
Human genetics 1993;91(6):567-70.
1993: B Dittrich; H Knoblauch; Karin Buiting; Bernhard Horsthemke
Characterization of a DNA sequence family in the Prader-Willi/Angelman syndrome chromosome region in 15q11-q13.
Genomics 1993;16(1):269-71.
1993: Robert D Nicholls; W Gottlieb; L B Russell; M Davda; Bernhard Horsthemke; E M Rinchik
Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse.
Proceedings of the National Academy of Sciences of the United States of America 1993;90(5):2050-4.
1993: Eugene M Rinchik; Scott J Bultman; Bernhard Horsthemke; S T Lee; K M Strunk; R A Spritz; K M Avidano; M T Jong; Robert D Nicholls
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.
Nature 1993;361(6407):72-6.
1993: B La Pillo; S Karpinski; Hermann-Josef Lüdecke; Bernhard Horsthemke
Detailed characterization of a human 8q24.1 microdissection library and generation of "sequence-tagged sites".
Cytogenetics and cell genetics 1993;63(3):185-8.
1993: Wendy P Robinson; I Lorda-Sanchez; S Malcolm; Sylvie Langlois; S Schuffenhauer; H Knoblauch; Bernhard Horsthemke; Albert Schinzel
Increased parental ages and uniparental disomy 15: a paternal age effect?
European journal of human genetics : EJHG 1993;1(4):280-6.
1992: B Brandt; V Greger; D Yandell; Eberhard Passarge; Bernhard Horsthemke
A simple and nonradioactive method for detecting the Rb1.20 DNA polymorphism in the retinoblastoma gene.
American journal of human genetics 1992;51(6):1450-1.
1992: Stanislav Ferencik; M Lindemann; Bernhard Horsthemke; Hans Grosse-Wilde
A new restriction fragment length polymorphism of the human TNF-B gene detected by AspHI digest.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics 1992;19(6):425-30.
1992: B Dittrich; Wendy P Robinson; H Knoblauch; Karin Buiting; K Schmidt; Gabriele Gillessen-Kaesbach; Bernhard Horsthemke
Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13.
Human genetics 1992;90(3):313-5.
1992: D Strumberg; B P Hauffa; Bernhard Horsthemke; Hans Grosse-Wilde
Molecular detection of genetic defects in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a study of 27 families.
European journal of pediatrics 1992;151(11):821-6.
1992: Bernhard Horsthemke
Genetics and cytogenetics of retinoblastoma.
Cancer genetics and cytogenetics 1992;63(1):1-7.
1992: A Kuwano; A Mutirangura; B Dittrich; Karin Buiting; Bernhard Horsthemke; S Saitoh; Norio Niikawa; Susan Airhart; F Greenberg; A Craig Chinault
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis.
Human molecular genetics 1992;1(6):417-25.
1992: A Puech; L Ahnine; Hermann-Josef Lüdecke; Gabriele Senger; Alasdair Ivens; Cécile Jeanpierre; P Little; Bernhard Horsthemke; Uwe Claussen; C Jones
11p15.5-specific libraries for identification of potential gene sequences involved in Beckwith-Wiedemann syndrome and tumorigenesis.
Genomics 1992;13(4):1274-80.
1992: Karin Buiting; V Greger; B H Brownstein; R M Mohr; I Voiculescu; A Winterpacht; B Zabel; Bernhard Horsthemke
A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(12):5457-61.
1992: Bernhard Horsthemke; Uwe Claussen; S Hesse; Hermann-Josef Lüdecke
PCR-mediated cloning of HpaII tiny fragments from microdissected human chromosomes.
PCR methods and applications 1992;1(4):229-33.
1992: Bernhard Horsthemke; G Prescher; Norbert Bornfeld; R Becher
Loss of chromosome 3 alleles and multiplication of chromosome 8 alleles in uveal melanoma.
Genes, chromosomes & cancer 1992;4(3):217-21.
1992: G Prescher; Norbert Bornfeld; Bernhard Horsthemke; R Becher
Chromosomal aberrations defining uveal melanoma of poor prognosis.
Lancet 1992;339(8794):691-2.
1991: G Hampton; G Leuteritz; Hermann-Josef Lüdecke; Gabriele Senger; U Trautmann; H Thomas; E Solomon; W F Bodmer; Bernhard Horsthemke; Uwe Claussen
Characterization and mapping of microdissected genomic clones from the adenomatous polyposis coli (APC) region.
Genomics 1991;11(2):247-51.
1991: W Fiedler; Uwe Claussen; Hermann-Josef Lüdecke; Gabriele Senger; Bernhard Horsthemke; A Geurts Van Kessel; W Goertzen; R Fahsold
New markers for the neurofibromatosis-2 region generated by microdissection of chromosome 22.
Genomics 1991;10(3):786-91.
1991: L M Davis; Bernhard Zabel; Gabriele Senger; Hermann-Josef Lüdecke; B Metzroth; K Call; D Housman; Uwe Claussen; Bernhard Horsthemke; TB Shows
A tumor chromosome rearrangement further defines the 11p13 Wilms tumor locus.
Genomics 1991;10(3):588-92.
1991: Uwe Claussen; H J Ludecke; Gabriele Senger; Bernhard Horsthemke
Construction of band-specific DNA-libraries by microdissection of GTG-banded human chromosomes and universal enzymatic DNA amplification.
Bulletin de l'Association des anatomistes 1991;75(229):133-6.
1991: K Kloss; P Währisch; V Greger; Elmar P Messmer; H Fritze; W Höpping; Eberhard Passarge; Bernhard Horsthemke
Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma.
American journal of medical genetics 1991;39(2):196-200.
1991: Irene Newsham; Uwe Claussen; Hermann-Josef Lüdecke; M Mason; Gabriele Senger; Bernhard Horsthemke; Webster K Cavenee
Microdissection of chromosome band 11p15.5: characterization of probes mapping distal to the HBBC locus.
Genes, chromosomes & cancer 1991;3(2):108-16.
1991: Claus Belka; V Greger; B Zabel; Bernhard Horsthemke
No evidence for sequences structurally related to the RB1 gene in the human genome.
Human genetics 1991;86(4):401-3.
1991: Elmar P Messmer; H Fritze; Christopher Mohr; T Heinrich; Wolfgang Sauerwein; W Havers; Bernhard Horsthemke; W Höpping
Long-term treatment effects in patients with bilateral retinoblastoma: ocular and mid-facial findings.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 1991;229(4):309-14.
1990: V Greger; P Schirmacher; J Bohl; A Bornemann; T Hürter; Eberhard Passarge; Bernhard Horsthemke
Possible involvement of the retinoblastoma gene in undifferentiated sinonasal carcinoma.
Cancer 1990;66(9):1954-9.
1990: Bernhard Horsthemke; R Burdiek; Hermann-Josef Lüdecke
Two RFLPs at the D8S42 locus.
Nucleic acids research 1990;18(20):6175.
1990: Bernhard Horsthemke; R Burdiek; Hermann-Josef Lüdecke
Asp700 RFLP at the D8S45 locus.
Nucleic acids research 1990;18(20):6174.
1990: Bernhard Horsthemke; R Burdiek; Hermann-Josef Lüdecke
Three RFLPs at the D8S49 locus.
Nucleic acids research 1990;18(20):6172.
1990: Bernhard Horsthemke; R Burdiek; Hermann-Josef Lüdecke
SacI RFLPs at the D8S51 locus.
Nucleic acids research 1990;18(20):6171.
1990: Bernhard Horsthemke; R Burdiek; Hermann-Josef Lüdecke
Two RFLPs at the D8S50 locus.
Nucleic acids research 1990;18(20):6172.
1990: L M Davis; Gabriele Senger; Hermann-Josef Lüdecke; Uwe Claussen; Bernhard Horsthemke; S S Zhang; B Metzroth; K Hohenfellner; Bernhard Zabel; TB Shows
Somatic cell hybrid and long-range physical mapping of 11p13 microdissected genomic clones.
Proceedings of the National Academy of Sciences of the United States of America 1990;87(18):7005-9.
1990: R N MacKinnon; Mark Hirst; M V Bell; J E Watson; Uwe Claussen; H J Ludecke; Gabriele Senger; Bernhard Horsthemke; Kay E Davies
Microdissection of the fragile X region.
American journal of human genetics 1990;47(2):181-6.
1990: S Griegel; C Hong; R Frötschl; D F Hülser; V Greger; Bernhard Horsthemke; Manfred F Rajewsky
Newly established human retinoblastoma cell lines exhibit an "immortalized" but not an invasive phenotype in vitro.
International journal of cancer. Journal international du cancer 1990;46(1):125-32.
1990: V Greger; Eberhard Passarge; Bernhard Horsthemke
Somatic mosaicism in a patient with bilateral retinoblastoma.
American journal of human genetics 1990;46(6):1187-93.
1990: Gabriele Senger; Hermann-Josef Lüdecke; Bernhard Horsthemke; Uwe Claussen
Microdissection of banded human chromosomes.
Human genetics 1990;84(6):507-11.
1990: Hermann-Josef Lüdecke; Gabriele Senger; Uwe Claussen; Bernhard Horsthemke
Construction and characterization of band-specific DNA libraries.
Human genetics 1990;84(6):512-6.
1990: Karin Buiting; M Neumann; Hermann-Josef Lüdecke; Gabriele Senger; Uwe Claussen; J Antich; Eberhard Passarge; Bernhard Horsthemke
Microdissection of the Prader-Willi syndrome chromosome region and identification of potential gene sequences.
Genomics 1990;6(3):521-7.
1990: A D Goddard; R A Phillips; V Greger; Eberhard Passarge; W Höpping; X P Zhu; Brenda L Gallie; Bernhard Horsthemke
Use of the RB1 cDNA as a diagnostic probe in retinoblastoma families.
Clinical genetics 1990;37(2):117-26.
1989: V Greger; Eberhard Passarge; W Höpping; Elmar P Messmer; Bernhard Horsthemke
Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma.
Human genetics 1989;83(2):155-8.
1989: Hermann-Josef Lüdecke; R Burdiek; Gabriele Senger; Uwe Claussen; Eberhard Passarge; Bernhard Horsthemke
Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome.
Human genetics 1989;82(4):327-9.
1989: Hermann-Josef Lüdecke; Gabriele Senger; Uwe Claussen; Bernhard Horsthemke
Cloning defined regions of the human genome by microdissection of banded chromosomes and enzymatic amplification.
Nature 1989;338(6213):348-50.
1989: Bernhard Horsthemke; V Greger; R Becher; Eberhard Passarge
Mechanism of i(6p) formation in retinoblastoma tumor cells.
Cancer genetics and cytogenetics 1989;37(1):95-102.
1988: Karin Buiting; Eberhard Passarge; Bernhard Horsthemke
Construction of a chromosome 15-specific linking library and identification of potential gene sequences.
Genomics 1988;3(2):143-9.
1988: V Greger; S Kerst; Elmar P Messmer; W Höpping; Eberhard Passarge; Bernhard Horsthemke
Application of linkage analysis to genetic counselling in families with hereditary retinoblastoma.
Journal of medical genetics 1988;25(4):217-21.
1988: V Greger; E Gersdorf; G Utermann; Bernhard Horsthemke
No evidence for linkage between lipoprotein(a) (LPA) and esterase D (ESD).
Cytogenetics and cell genetics 1988;48(4):248-9.
1987: Bernhard Horsthemke; V Greger; H J Barnert; W Höpping; Eberhard Passarge
Detection of submicroscopic deletions and a DNA polymorphism at the retinoblastoma locus.
Human genetics 1987;76(3):257-61.
1987: Bernhard Horsthemke; H J Barnert; V Greger; Eberhard Passarge; W Höpping
Early diagnosis in hereditary retinoblastoma by detection of molecular deletions at gene locus.
Lancet 1987;1(8531):511-2.