Username

Password

Preview

Sign-in free and Explore the Exciting World of BiomedExperts:

Over 1.500.000 Profiles
More than 1.800 Organizations worldwide
State of the Art Network Visualizations

Manage your own Profile
Locate Experts in your Country/Region
Locate Experts in your 1. and 2. Level Network
Connect to Experts Worldwide

NetworkView

Bernhard Horsthemke

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

Research Profile (preview)

Disorders

Anatomy

Physiology

Chemicals & Drugs

Concepts & Ideas

Procedures

Phenomena

Southern Blotting

Sign-in to see full Profile

Sign-in to see all Coauthors

Publications

TOP 3
Wawrzik Michaela; Spiess Andrej-Nikolai; Herrmann Ralf; Buiting Karin; Horsthemke Bernhard
Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis.
Kanber Deniz; Giltay Jacques; Wieczorek Dagmar; Zogel Corinna; Hochstenbach Ron; Caliebe Almuth; Kuechler Alma; Horsthemke Bernhard; Buiting Karin
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome.
Zeschnigk Michael; Martin Marcel; Betzl Gisela; Kalbe Andreas; Sirsch Caroline; Buiting Karin; Gross Stephanie; Fritzilas Epameinondas; Frey Bruno; Rahmann Sven; Horsthemke Bernhard
Massive parallel bisulfite sequencing of CG-rich DNA fragments reveals that methylation of many X-chromosomal CpG islands in female blood DNA is incomplete.

Sign-in to see all Publications

Sign in free and see...

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the visualized research activity
of experts around the globe

Sign-in to see more

Geonetwork of Bernhard Horsthemke (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

Sign-in to see more

All Publications

2009: Wawrzik Michaela; Spiess Andrej-Nikolai; Herrmann Ralf; Buiting Karin; Horsthemke Bernhard
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: Kanber Deniz; Giltay Jacques; Wieczorek Dagmar; Zogel Corinna; Hochstenbach Ron; Caliebe Almuth; Kuechler Alma; Horsthemke Bernhard; Buiting Karin
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: Zeschnigk Michael; Martin Marcel; Betzl Gisela; Kalbe Andreas; Sirsch Caroline; Buiting Karin; Gross Stephanie; Fritzilas Epameinondas; Frey Bruno; Rahmann Sven; Horsthemke Bernhard
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: Horsthemke Bernhard
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: Buiting Karin; Kanber Deniz; Martín-Subero José I; Lieb Wolfgang; Terhal Paulien; Albrecht Beate; Purmann Sabine; Gross Stephanie; Lich Christina; Siebert Reiner; Horsthemke Bernhard; Gillessen-Kaesbach Gabriele
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: Horsthemke Bernhard; Wagstaff Joseph
Mechanisms of imprinting of the Prader-Willi/Angelman region.
American journal of medical genetics. Part A 2008;146A(16):2041-52.
2008: Zeschnigk Michael; Albrecht Beate; Buiting Karin; Kanber Deniz; Eggermann Thomas; Binder Gerhard; Gromoll Jörg; Prott Eva-Christina; Seland Saskia; Horsthemke Bernhard
IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia.
European journal of human genetics : EJHG 2008;16(3):328-34.
2008: Vollmar Tobias; Maus Baerbel; Wurtz Rolf P; Gillessen-Kaesbach Gabriele; Horsthemke Bernhard; Wieczorek Dagmar; Boehringer Stefan
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: Rauch Joachim; Knoch Tobias A; Solovei Irina; Teller Kathrin; Stein Stefan; Buiting Karin; Horsthemke Bernhard; Langowski Jörg; Cremer Thomas; Hausmann Michael; Cremer Christoph
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.
2008: Horsthemke Bernhard; Buiting Karin
Genomic imprinting and imprinting defects in humans.
Advances in genetics 2008;61():225-46.
2007: Horsthemke Bernhard
Rhythm is not enough.
Nature genetics 2007;39(10):1190-1.
2007: Teller Kathrin; Solovei Irina; Buiting Karin; Horsthemke Bernhard; Cremer Thomas
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: Horsthemke Bernhard
Heritable germline epimutations in humans.
Nature genetics 2007;39(5):573-4; author reply 575-6.
2007: Buiting Karin; Nazlican Hülya; Galetzka Danuta; Wawrzik Michaela; Gross Stephanie; Horsthemke Bernhard
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: Wieczorek Dagmar; Ludwig Michael; Boehringer Stefan; Jongbloet Piet Hein; Gillessen-Kaesbach Gabriele; Horsthemke Bernhard
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: Boehringer Stefan; Vollmar Tobias; Tasse Christiane; Wurtz Rolf P; Gillessen-Kaesbach Gabriele; Horsthemke Bernhard; Wieczorek Dagmar
Syndrome identification based on 2D analysis software.
European journal of human genetics : EJHG 2006;14(10):1082-9.
2006: Zogel Corinna; Böhringer Stefan; Gross Stephanie; Varon Raymonda; Buiting Karin; Horsthemke Bernhard
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: Stankiewicz Pawel; Kuechler Alma; Eller C Daniel; Sahoo Trilochan; Baldermann Christiane; Lieser Ulla; Hesse Martin; Gläser Christiane; Hagemann Monika; Yatsenko Svetlana A; Liehr Thomas; Horsthemke Bernhard; Claussen Uwe; Marahrens York; Lupski James R; Hansmann Ingo
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: Fischer Sven; Lüdecke Hermann-Josef; Wieczorek Dagmar; Böhringer Stefan; Gillessen-Kaesbach Gabriele; Horsthemke Bernhard
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: Horsthemke B
Epimutations in human disease.
Current topics in microbiology and immunology 2006;310():45-59.
2006: Horsthemke B; Buiting K
Imprinting defects on human chromosome 15.
Cytogenetic and genome research 2006;113(1-4):292-9.
2005: Lohmann Dietmar R; Häusler Thomas; Horsthemke Bernhard; Zeschnigk Michael
Minimal region of deletion on chromosomal arm 3p25.1-p25.2 in uveal melanoma.
Cancer research 2005;65(22):10634; author reply 10634.
2005: Häusler Thomas; Stang Andreas; Anastassiou Gerasimos; Jöckel Karl-Heinz; Mrzyk Stefanie; Horsthemke Bernhard; Lohmann Dietmar R; Zeschnigk Michael
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: Horsthemke Bernhard; Ludwig Michael
Assisted reproduction: the epigenetic perspective.
Human reproduction update 2005;11(5):473-82.
2005: Gratias Sandrine; Schüler Andreas; Hitpass Ludger Klein; Stephan Harald; Rieder Harald; Schneider Stephanie; Horsthemke Bernhard; Lohmann Dietmar R
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: Wey Eva; Bartholdi Deborah; Riegel Mariluce; Nazlican Hülya; Horsthemke Bernhard; Schinzel Albert; Baumer Alessandra
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: Runte Maren; Varon Raymonda; Horn Denise; Horsthemke Bernhard; Buiting Karin
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: Nazlican Hülya; Zeschnigk Michael; Claussen Uwe; Michel Susanne; Boehringer Stefan; Gillessen-Kaesbach Gabriele; Buiting Karin; Horsthemke Bernhard
Somatic mosaicism in patients with Angelman syndrome and an imprinting defect.
Human molecular genetics 2004;13(21):2547-55.
2004: Runte Maren; Kroisel Peter M; Gillessen-Kaesbach Gabriele; Varon Raymonda; Horn Denise; Cohen Monika Y; Wagstaff Joseph; Horsthemke Bernhard; Buiting Karin
SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome.
Human genetics 2004;114(6):553-61.
2004: Kaiser Frank J; Brega Paola; Raff Michael L; Byers Peter H; Gallati Sabina; Kay Teresa Taylor; de Almeida Salomé; Horsthemke Bernhard; Lüdecke Hermann-Josef
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: Horsthemke Bernhard; Lich Christina; Buiting Karin; Achmann Roland; Aulehla-Scholz Christa; Baumer Alessandra; Bürger Joachim; Dworniczak Bernd; Gläser Dieter; Holinski-Feder Elke; Janssen Bart; Kleinle Stephanie; Kochhan Lothar; Krasemann Ernst; Kraus Cornelia; Kroisel Peter; Plendl Hansjörg; Purmann Sabine; Sander Gabriele; Skladny Heyko; Spitzer Eva; Thamm-Mücke Barbara; Varon-Mateeva Raymonda; Weinhäusel Andreas; Weirich Helga
Problems in detecting mosaic DNA methylation in Angelman syndrome.
European journal of human genetics : EJHG 2003;11(12):913-5.
2003: Horsthemke Bernhard; Nazlican Hülya; Hüsing Johannes; Klein-Hitpass Ludger; Claussen Uwe; Michel Susanne; Lich Christina; Gillessen-Kaesbach Gabriele; Buiting Karin
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: Kaiser Frank J; Möröy Tarik; Chang Glenn T G; Horsthemke Bernhard; Lüdecke Hermann-Josef
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: Loos Hartmut S; Wieczorek Dagmar; Würtz Rolf P; von der Malsburg Christoph; Horsthemke Bernhard
Computer-based recognition of dysmorphic faces.
European journal of human genetics : EJHG 2003;11(8):555-60.
2003: Kaiser Frank J; Tavassoli Kamiab; Van den Bemd Gert-Jan; Chang Glenn T G; Horsthemke Bernhard; Möröy Tarik; Lüdecke Hermann-Josef
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: Tschentscher Frank; Hüsing Johannes; Hölter Tanja; Kruse Elisabeth; Dresen Irina Gana; Jöckel Karl-Heinz; Anastassiou Gerasimos; Schilling Harald; Bornfeld Norbert; Horsthemke Bernhard; Lohmann Dietmar Rudolf; Zeschnigk Michael
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: Buiting Karin; Gross Stephanie; Lich Christina; Gillessen-Kaesbach Gabriele; el-Maarri Osman; Horsthemke Bernhard
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: Zeschnigk Michael; Tschentscher Frank; Lich Christina; Brandt Birgit; Horsthemke Bernhard; Lohmann Dietmar R
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: Cox Gerald F; Bürger Joachim; Lip Va; Mau Ulrike A; Sperling Karl; Wu Bai-Lin; Horsthemke Bernhard
Intracytoplasmic sperm injection may increase the risk of imprinting defects.
American journal of human genetics 2002;71(1):162-4.
2001: Runte M; Hüttenhofer A; Gross S; Kiefmann M; Horsthemke B; Buiting K
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: Runte M; Färber C; Lich C; Zeschnigk M; Buchholz T; Smith A; Van Maldergem L; Bürger J; Muscatelli F; Gillessen-Kaesbach G; Horsthemke B; Buiting K
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: Buiting K; Barnicoat A; Lich C; Pembrey M; Malcolm S; Horsthemke B
Disruption of the bipartite imprinting center in a family with Angelman syndrome.
American journal of human genetics 2001;68(5):1290-4.
2001: Tschentscher F; Prescher G; Horsman D E; White V A; Rieder H; Anastassiou G; Schilling H; Bornfeld N; Bartz-Schmidt K U; Horsthemke B; Lohmann D R; Zeschnigk M
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: El-Maarri O; Buiting K; Peery E G; Kroisel P M; Balaban B; Wagner K; Urman B; Heyd J; Lich C; Brannan C I; Walter J; Horsthemke B
Maternal methylation imprints on human chromosome 15 are established during or after fertilization.
Nature genetics 2001;27(3):341-4.
2001: Herzog S; Lohmann D R; Buiting K; Schüler A; Horsthemke B; Rehder H; Rieder H
Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization.
Human genetics 2001;108(2):98-104.
2001: Wirth J; Back E; Hüttenhofer A; Nothwang H G; Lich C; Gross S; Menzel C; Schinzel A; Kioschis P; Tommerup N; Ropers H H; Horsthemke B; Buiting K
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: Cavaillé J; Buiting K; Kiefmann M; Lalande M; Brannan C I; Horsthemke B; Bachellerie J P; Brosius J; Hüttenhofer A
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: Tschentscher F; Prescher G; Zeschnigk M; Horsthemke B; Lohmann D R
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: Buiting K; Färber C; Kroisel P; Wagner K; Brueton L; Robertson M E; Lich C; Horsthemke B
Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counseling.
Clinical genetics 2000;58(4):284-90.
2000: Bielinska B; Blaydes S M; Buiting K; Yang T; Krajewska-Walasek M; Horsthemke B; Brannan C I
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: Färber C; Gross S; Neesen J; Buiting K; Horsthemke B
Identification of a testis-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15.
Genomics 2000;65(2):174-83.
2000: Momeni P; Glöckner G; Schmidt O; von Holtum D; Albrecht B; Gillessen-Kaesbach G; Hennekam R; Meinecke P; Zabel B; Rosenthal A; Horsthemke B; Lüdecke H J
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: Buiting K; Lich C; Cottrell S; Barnicoat A; Horsthemke B
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: Schmidt O; von Holtum D; Gross S; Horsthemke B; Lüdecke H J
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: Lüdecke H J; Schmidt O; Nardmann J; von Holtum D; Meinecke P; Muenke M; Horsthemke B
Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8.
Human genetics 1999;105(6):619-28.
1999: Passarge E; Horsthemke B; Farber R A
Incorrect use of the term synteny.
Nature genetics 1999;23(4):387.
1999: Buiting K; Dittrich B; Dworniczak B; Lerer I; Abeliovich D; Cottrell S; Temple I K; Harvey J F; Lich C; Gross S; Horsthemke B
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: Zeschnigk M; Horsthemke B; Lohmann D
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: Zeschnigk M; Lohmann D; Horsthemke B
A PCR test for the detection of hypermethylated alleles at the retinoblastoma locus.
Journal of medical genetics 1999;36(10):793-4.
1999: Gillessen-Kaesbach G; Demuth S; Thiele H; Theile U; Lich C; Horsthemke B
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: Walkowicz M; Ji Y; Ren X; Horsthemke B; Russell L B; Johnson D; Rinchik E M; Nicholls R D; Stubbs L
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: Ji Y; Walkowicz M J; Buiting K; Johnson D K; Tarvin R E; Rinchik E M; Horsthemke B; Stubbs L; Nicholls R D
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: Klutz M; Horsthemke B; Lohmann D R
RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma.
American journal of human genetics 1999;64(2):667-8.
1999: Ohta T; Gray T A; Rogan P K; Buiting K; Gabriel J M; Saitoh S; Muralidhar B; Bilienska B; Krajewska-Walasek M; Driscoll D J; Horsthemke B; Butler M G; Nicholls R D
Imprinting-mutation mechanisms in Prader-Willi syndrome.
American journal of human genetics 1999;64(2):397-413.
1999: Ohta T; Buiting K; Kokkonen H; McCandless S; Heeger S; Leisti H; Driscoll D J; Cassidy S B; Horsthemke B; Nicholls R D
Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation.
American journal of human genetics 1999;64(2):385-96.
1999: Färber C; Dittrich B; Buiting K; Horsthemke B
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: Buiting K; Körner C; Ulrich B; Wahle E; Horsthemke B
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: Horsthemke B; Surani A; James T; Ohlsson R
The mechanisms of genomic imprinting.
Results and problems in cell differentiation 1999;25():91-118.
1998: Schumacher A; Buiting K; Zeschnigk M; Doerfler W; Horsthemke B
Methylation analysis of the PWS/AS region does not support an enhancer-competition model.
Nature genetics 1998;19(4):324-5.
1998: Nicholls R D; Saitoh S; Horsthemke B
Imprinting in Prader-Willi and Angelman syndromes.
Trends in genetics : TIG 1998;14(5):194-200.
1998: Siffert W; Rosskopf D; Siffert G; Busch S; Moritz A; Erbel R; Sharma A M; Ritz E; Wichmann H E; Jakobs K H; Horsthemke B
Association of a human G-protein beta3 subunit variant with hypertension.
Nature genetics 1998;18(1):45-8.
1998: Buiting K; Gross S; Ji Y; Senger G; Nicholls R D; Horsthemke B
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.
1997: Conroy J M; Grebe T A; Becker L A; Tsuchiya K; Nicholls R D; Buiting K; Horsthemke B; Cassidy S B; Schwartz S
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: Lohmann D R; Gerick M; Brandt B; Oelschläger U; Lorenz B; Passarge E; Horsthemke B
Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma.
American journal of human genetics 1997;61(2):282-94.
1997: Bürger J; Buiting K; Dittrich B; Gross S; Lich C; Sperling K; Horsthemke B; Reis A
Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.
American journal of human genetics 1997;61(1):88-93.
1997: Nardmann J; Tranebjaerg L; Horsthemke B; Lüdecke H J
The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions.
Human genetics 1997;99(5):638-43.
1997: Lohmann D R; Brandt B; Passarge E; Horsthemke B
[Molecular genetics and diagnosis of retinoblastoma. Significance for ophthalmologic practice]
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 1997;94(4):263-7.
1997: Zeschnigk M; Lich C; Buiting K; Doerfler W; Horsthemke B
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: Zeschnigk M; Schmitz B; Dittrich B; Buiting K; Horsthemke B; Doerfler W
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: Lüdecke H J; Ahn J; Lin X; Hill A; Wagner M J; Schomburg L; Horsthemke B; Wells D E
Genomic organization and promoter structure of the human EXT1 gene.
Genomics 1997;40(2):351-4.
1997: Buiting K; Dittrich B; Endele S; Horsthemke B
Identification of novel exons 3' to the human SNRPN gene.
Genomics 1997;40(1):132-7.
1997: Saitoh S; Buiting K; Cassidy S B; Conroy J M; Driscoll D J; Gabriel J M; Gillessen-Kaesbach G; Glenn C C; Greenswag L R; Horsthemke B; Kondo I; Kuwajima K; Niikawa N; Rogan P K; Schwartz S; Seip J; Williams C A; Nicholls R D
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: Horsthemke B; Dittrich B; Buiting K
Imprinting mutations on human chromosome 15.
Human mutation 1997;10(5):329-37.
1997: Lohmann D R; Buiting K; Lüdecke H J; Horsthemke B
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: Robinson W P; Horsthemke B; Leonard S; Malcolm S; Morton C; Nicholls R D; Ritchie R J; Rogan P; Schultz R; Schwartz S; Sharp J; Trent R; Wevrick R; Williamson M; Knoll J H
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: Kubota T; Sutcliffe J S; Aradhya S; Gillessen-Kaesbach G; Christian S L; Horsthemke B; Beaudet A L; Ledbetter D H
Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome.
American journal of medical genetics 1996;66(1):77-80.
1996: Horsthemke B; Maat-Kievit A; Sleegers E; van den Ouweland A; Buiting K; Lich C; Mollevanger P; Beverstock G; Gillessen-Kaesbach G; Schwanitz G
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: Dittrich B; Buiting K; Korn B; Rickard S; Buxton J; Saitoh S; Nicholls R D; Poustka A; Winterpacht A; Zabel B; Horsthemke B
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene.
Nature genetics 1996;14(2):163-70.
1996: Robinson W P; Langlois S; Schuffenhauer S; Horsthemke B; Michaelis R C; Christian S; Ledbetter D H; Schinzel A
Cytogenetic and age-dependent risk factors associated with uniparental disomy 15.
Prenatal diagnosis 1996;16(9):837-44.
1996: Saitoh S; Buiting K; Rogan P K; Buxton J L; Driscoll D J; Arnemann J; König R; Malcolm S; Horsthemke B; Nicholls R D
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: Lohmann D R; Brandt B; Höpping W; Passarge E; Horsthemke B
The spectrum of RB1 germ-line mutations in hereditary retinoblastoma.
American journal of human genetics 1996;58(5):940-9.
1996: Prescher G; Bornfeld N; Hirche H; Horsthemke B; Jöckel K H; Becher R
Prognostic implications of monosomy 3 in uveal melanoma.
Lancet 1996;347(9010):1222-5.
1996: Dittrich B; Buiting K; Horsthemke B
PW71 methylation test for Prader-Willi and Angelman syndromes.
American journal of medical genetics 1996;61(2):196-7.
1996: Buiting K; Kaya-Westerloh S; Horsthemke B
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: Lohmann D R; Brandt B; Oehlschläger U; Göttmann E; Höpping W; Passarge E; Horsthemke B
Molecular analysis and predictive testing in retinoblastoma.
Ophthalmic genetics 1995;16(4):135-42.
1995: Gillessen-Kaesbach G; Robinson W; Lohmann D; Kaya-Westerloh S; Passarge E; Horsthemke B
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: Ahn J; Lüdecke H J; Lindow S; Horton W A; Lee B; Wagner M J; Horsthemke B; Wells D E
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1).
Nature genetics 1995;11(2):137-43.
1995: Buiting K; Saitoh S; Gross S; Dittrich B; Schwartz S; Nicholls R D; Horsthemke B
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: Gillessen-Kaesbach G; Gross S; Kaya-Westerloh S; Passarge E; Horsthemke B
DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome.
Journal of medical genetics 1995;32(2):88-92.
1994: Lohmann D R; Brandt B; Höpping W; Passarge E; Horsthemke B
Spectrum of small length germline mutations in the RB1 gene.
Human molecular genetics 1994;3(12):2187-93.
1994: Dittrich B; Buiting K; Gross S; Horsthemke B
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: Greger V; Debus N; Lohmann D; Höpping W; Passarge E; Horsthemke B
Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma.
Human genetics 1994;94(5):491-6.
1994: Lohmann D R; Brandt B; Höpping W; Passarge E; Horsthemke B
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.
Human genetics 1994;94(4):349-54.
1994: Wienberg J; Jauch A; Lüdecke H J; Senger G; Horsthemke B; Claussen U; Cremer T; Arnold N; Lengauer C
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: Speicher M R; Prescher G; du Manoir S; Jauch A; Horsthemke B; Bornfeld N; Becher R; Cremer T
Chromosomal gains and losses in uveal melanomas detected by comparative genomic hybridization.
Cancer research 1994;54(14):3817-23.
1994: Buiting K; Dittrich B; Robinson W P; Guitart M; Abeliovich D; Lerer I; Horsthemke B
Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications.
Human molecular genetics 1994;3(6):893-5.
1994: Reis A; Dittrich B; Greger V; Buiting K; Lalande M; Gillessen-Kaesbach G; Anvret M; Horsthemke B
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: Bardenheuer W; Szymanski S; Lux A; Lüdecke H J; Horsthemke B; Claussen U; Senger G; Smith D I; Wang N D; LePaslier D
Characterization of a microdissection library from human chromosome region 3p14.
Genomics 1994;19(2):291-7.
1993: Mutirangura A; Jayakumar A; Sutcliffe J S; Nakao M; McKinney M J; Buiting K; Horsthemke B; Beaudet A L; Chinault A C; Ledbetter D H
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: Dittrich B; Buiting K; Gross S; Horsthemke B
Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region.
Human molecular genetics 1993;2(12):1995-9.
1993: Buiting K; Dittrich B; Gross S; Greger V; Lalande M; Robinson W; Mutirangura A; Ledbetter D; Horsthemke B
Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene.
Human molecular genetics 1993;2(12):1991-4.
1993: Glenn C C; Nicholls R D; Robinson W P; Saitoh S; Niikawa N; Schinzel A; Horsthemke B; Driscoll D J
Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients.
Human molecular genetics 1993;2(9):1377-82.
1993: Dittrich B; Gross S; Buiting K; Horsthemke B
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: La Pillo B; Lüdecke H J; Thiesen H J; Horsthemke B
A BanII RFLP in the ZNF34 zinc finger gene on chromosome 8.
Human molecular genetics 1993;2(8):1331.
1993: von Eggeling F; Freytag M; Fahsold R; Horsthemke B; Claussen U
Rapid detection of trisomy 21 by quantitative PCR.
Human genetics 1993;91(6):567-70.
1993: Dittrich B; Knoblauch H; Buiting K; Horsthemke B
Characterization of a DNA sequence family in the Prader-Willi/Angelman syndrome chromosome region in 15q11-q13.
Genomics 1993;16(1):269-71.
1993: Nicholls R D; Gottlieb W; Russell L B; Davda M; Horsthemke B; Rinchik E M
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: Rinchik E M; Bultman S J; Horsthemke B; Lee S T; Strunk K M; Spritz R A; Avidano K M; Jong M T; Nicholls R D
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.
Nature 1993;361(6407):72-6.
1993: La Pillo B; Karpinski S; Lüdecke H J; Horsthemke B
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: Robinson W P; Lorda-Sanchez I; Malcolm S; Langlois S; Schuffenhauer S; Knoblauch H; Horsthemke B; Schinzel A A
Increased parental ages and uniparental disomy 15: a paternal age effect?
European journal of human genetics : EJHG 1993;1(4):280-6.
1992: Brandt B; Greger V; Yandell D; Passarge E; Horsthemke B
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: Ferencik S; Lindemann M; Horsthemke B; Grosse-Wilde H
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: Dittrich B; Robinson W P; Knoblauch H; Buiting K; Schmidt K; Gillessen-Kaesbach G; Horsthemke B
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: Strumberg D; Hauffa B P; Horsthemke B; Grosse-Wilde H
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: Horsthemke B
Genetics and cytogenetics of retinoblastoma.
Cancer genetics and cytogenetics 1992;63(1):1-7.
1992: Kuwano A; Mutirangura A; Dittrich B; Buiting K; Horsthemke B; Saitoh S; Niikawa N; Ledbetter S A; Greenberg F; Chinault A C
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: Puech A; Ahnine L; Lüdecke H J; Senger G; Ivens A; Jeanpierre C; Little P; Horsthemke B; Claussen U; Jones C
11p15.5-specific libraries for identification of potential gene sequences involved in Beckwith-Wiedemann syndrome and tumorigenesis.
Genomics 1992;13(4):1274-80.
1992: Buiting K; Greger V; Brownstein B H; Mohr R M; Voiculescu I; Winterpacht A; Zabel B; Horsthemke B
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: Horsthemke B; Claussen U; Hesse S; Lüdecke H J
PCR-mediated cloning of HpaII tiny fragments from microdissected human chromosomes.
PCR methods and applications 1992;1(4):229-33.
1992: Horsthemke B; Prescher G; Bornfeld N; Becher R
Loss of chromosome 3 alleles and multiplication of chromosome 8 alleles in uveal melanoma.
Genes, chromosomes & cancer 1992;4(3):217-21.
1992: Prescher G; Bornfeld N; Horsthemke B; Becher R
Chromosomal aberrations defining uveal melanoma of poor prognosis.
Lancet 1992;339(8794):691-2.
1991: Hampton G; Leuteritz G; Lüdecke H J; Senger G; Trautmann U; Thomas H; Solomon E; Bodmer W F; Horsthemke B; Claussen U
Characterization and mapping of microdissected genomic clones from the adenomatous polyposis coli (APC) region.
Genomics 1991;11(2):247-51.
1991: Fiedler W; Claussen U; Lüdecke H J; Senger G; Horsthemke B; Geurts Van Kessel A; Goertzen W; Fahsold R
New markers for the neurofibromatosis-2 region generated by microdissection of chromosome 22.
Genomics 1991;10(3):786-91.
1991: Davis L M; Zabel B; Senger G; Lüdecke H J; Metzroth B; Call K; Housman D; Claussen U; Horsthemke B; Shows T B
A tumor chromosome rearrangement further defines the 11p13 Wilms tumor locus.
Genomics 1991;10(3):588-92.
1991: Claussen U; Ludecke H J; Senger G; Horsthemke B
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: Kloss K; Währisch P; Greger V; Messmer E; Fritze H; Höpping W; Passarge E; Horsthemke B
Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma.
American journal of medical genetics 1991;39(2):196-200.
1991: Newsham I; Claussen U; Lüdecke H J; Mason M; Senger G; Horsthemke B; Cavenee W
Microdissection of chromosome band 11p15.5: characterization of probes mapping distal to the HBBC locus.
Genes, chromosomes & cancer 1991;3(2):108-16.
1991: Belka C; Greger V; Zabel B; Horsthemke B
No evidence for sequences structurally related to the RB1 gene in the human genome.
Human genetics 1991;86(4):401-3.
1991: Messmer E P; Fritze H; Mohr C; Heinrich T; Sauerwein W; Havers W; Horsthemke B; Höpping W
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: Greger V; Schirmacher P; Bohl J; Bornemann A; Hürter T; Passarge E; Horsthemke B
Possible involvement of the retinoblastoma gene in undifferentiated sinonasal carcinoma.
Cancer 1990;66(9):1954-9.
1990: Horsthemke B; Burdiek R; Lüdecke H J
Two RFLPs at the D8S42 locus.
Nucleic acids research 1990;18(20):6175.
1990: Horsthemke B; Burdiek R; Lüdecke H J
Asp700 RFLP at the D8S45 locus.
Nucleic acids research 1990;18(20):6174.
1990: Horsthemke B; Burdiek R; Lüdecke H J
Three RFLPs at the D8S49 locus.
Nucleic acids research 1990;18(20):6172.
1990: Horsthemke B; Burdiek R; Lüdecke H J
SacI RFLPs at the D8S51 locus.
Nucleic acids research 1990;18(20):6171.
1990: Horsthemke B; Burdiek R; Lüdecke H J
Two RFLPs at the D8S50 locus.
Nucleic acids research 1990;18(20):6172.
1990: Davis L M; Senger G; Lüdecke H J; Claussen U; Horsthemke B; Zhang S S; Metzroth B; Hohenfellner K; Zabel B; Shows T B
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: MacKinnon R N; Hirst M C; Bell M V; Watson J E; Claussen U; Ludecke H J; Senger G; Horsthemke B; Davies K E
Microdissection of the fragile X region.
American journal of human genetics 1990;47(2):181-6.
1990: Griegel S; Hong C; Frötschl R; Hülser D F; Greger V; Horsthemke B; Rajewsky M F
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: Greger V; Passarge E; Horsthemke B
Somatic mosaicism in a patient with bilateral retinoblastoma.
American journal of human genetics 1990;46(6):1187-93.
1990: Senger G; Lüdecke H J; Horsthemke B; Claussen U
Microdissection of banded human chromosomes.
Human genetics 1990;84(6):507-11.
1990: Lüdecke H J; Senger G; Claussen U; Horsthemke B
Construction and characterization of band-specific DNA libraries.
Human genetics 1990;84(6):512-6.
1990: Buiting K; Neumann M; Lüdecke H J; Senger G; Claussen U; Antich J; Passarge E; Horsthemke B
Microdissection of the Prader-Willi syndrome chromosome region and identification of potential gene sequences.
Genomics 1990;6(3):521-7.
1990: Goddard A D; Phillips R A; Greger V; Passarge E; Höpping W; Zhu X P; Gallie B L; Horsthemke B
Use of the RB1 cDNA as a diagnostic probe in retinoblastoma families.
Clinical genetics 1990;37(2):117-26.
1989: Greger V; Passarge E; Höpping W; Messmer E; Horsthemke B
Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma.
Human genetics 1989;83(2):155-8.
1989: Lüdecke H J; Burdiek R; Senger G; Claussen U; Passarge E; Horsthemke B
Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome.
Human genetics 1989;82(4):327-9.
1989: Lüdecke H J; Senger G; Claussen U; Horsthemke B
Cloning defined regions of the human genome by microdissection of banded chromosomes and enzymatic amplification.
Nature 1989;338(6213):348-50.
1989: Horsthemke B; Greger V; Becher R; Passarge E
Mechanism of i(6p) formation in retinoblastoma tumor cells.
Cancer genetics and cytogenetics 1989;37(1):95-102.
1988: Buiting K; Passarge E; Horsthemke B
Construction of a chromosome 15-specific linking library and identification of potential gene sequences.
Genomics 1988;3(2):143-9.
1988: Greger V; Kerst S; Messmer E; Höpping W; Passarge E; Horsthemke B
Application of linkage analysis to genetic counselling in families with hereditary retinoblastoma.
Journal of medical genetics 1988;25(4):217-21.
1988: Greger V; Gersdorf E; Utermann G; Horsthemke B
No evidence for linkage between lipoprotein(a) (LPA) and esterase D (ESD).
Cytogenetics and cell genetics 1988;48(4):248-9.
1987: Horsthemke B; Greger V; Barnert H J; Höpping W; Passarge E
Detection of submicroscopic deletions and a DNA polymorphism at the retinoblastoma locus.
Human genetics 1987;76(3):257-61.
1987: Horsthemke B; Barnert H J; Greger V; Passarge E; Höpping W
Early diagnosis in hereditary retinoblastoma by detection of molecular deletions at gene locus.
Lancet 1987;1(8531):511-2.

Sign-in to see more

Sign-in free and Explore the Exciting World of BiomedExperts:

NetworkView

Bernhard Horsthemke

Research Profile (preview)

Disorders

Anatomy

Physiology

Chemicals & Drugs

Concepts & Ideas

Procedures

Phenomena

Network (preview)

Publications

Sign in free and see...

Visualized networks:

GeoTargeted Searches:

Research Profiles:

Geonetwork of Bernhard Horsthemke (preview)

All Publications