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Items: 1 to 50 of 272

1.

The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders.

Beygo J, Mertel C, Kaya S, Gillessen-Kaesbach G, Eggermann T, Horsthemke B, Buiting K.

Epigenetics. 2018;13(8):822-828. doi: 10.1080/15592294.2018.1514233. Epub 2018 Sep 19.

PMID:
30227764
2.

A critical view on transgenerational epigenetic inheritance in humans.

Horsthemke B.

Nat Commun. 2018 Jul 30;9(1):2973. doi: 10.1038/s41467-018-05445-5.

3.

Angelman Syndrome-Affected Individual with a Numerically Normal Karyotype and Isodisomic Paternal Uniparental Disomy of Chromosome 15 due to Maternal Robertsonian Translocation (14;15) by Monosomy Rescue.

Bramswig NC, Buiting K, Bechtel N, Horsthemke B, Rostasy K, Wieczorek D.

Cytogenet Genome Res. 2018 Jul 18. doi: 10.1159/000490838. [Epub ahead of print]

PMID:
30016768
4.

Locus-Specific DNA Methylation Analysis by Targeted Deep Bisulfite Sequencing.

Leitão E, Beygo J, Zeschnigk M, Klein-Hitpass L, Bargull M, Rahmann S, Horsthemke B.

Methods Mol Biol. 2018;1767:351-366. doi: 10.1007/978-1-4939-7774-1_19.

PMID:
29524145
5.

[Rapid first-tier genetic diagnosis in patients with Prader-Willi syndrome].

Ács OD, Péterfia B, Hollósi P, Haltrich I, Sallai Á, Luczay A, Buiting K, Horsthemke B, Török D, Szabó A, Fekete G.

Orv Hetil. 2018 Jan;159(2):64-69. doi: 10.1556/650.2018.30918. Hungarian.

PMID:
29307221
6.

Regions of common inter-individual DNA methylation differences in human monocytes: genetic basis and potential function.

Schröder C, Leitão E, Wallner S, Schmitz G, Klein-Hitpass L, Sinha A, Jöckel KH, Heilmann-Heimbach S, Hoffmann P, Nöthen MM, Steffens M, Ebert P, Rahmann S, Horsthemke B.

Epigenetics Chromatin. 2017 Jul 26;10(1):37. doi: 10.1186/s13072-017-0144-2.

7.

New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.

Beygo J, Küchler A, Gillessen-Kaesbach G, Albrecht B, Eckle J, Eggermann T, Gellhaus A, Kanber D, Kordaß U, Lüdecke HJ, Purmann S, Rossier E, van de Nes J, van der Werf IM, Wenzel M, Wieczorek D, Horsthemke B, Buiting K.

Eur J Hum Genet. 2017 Aug;25(8):935-945. doi: 10.1038/ejhg.2017.91. Epub 2017 Jun 21.

8.

Angelman syndrome - insights into a rare neurogenetic disorder.

Buiting K, Williams C, Horsthemke B.

Nat Rev Neurol. 2016 Oct;12(10):584-93. doi: 10.1038/nrneurol.2016.133. Epub 2016 Sep 12. Review.

PMID:
27615419
9.

Preovulatory Aging In Vivo and In Vitro Affects Maturation Rates, Abundance of Selected Proteins, Histone Methylation Pattern and Spindle Integrity in Murine Oocytes.

Demond H, Trapphoff T, Dankert D, Heiligentag M, Grümmer R, Horsthemke B, Eichenlaub-Ritter U.

PLoS One. 2016 Sep 9;11(9):e0162722. doi: 10.1371/journal.pone.0162722. eCollection 2016.

10.

Epigenetic dynamics of monocyte-to-macrophage differentiation.

Wallner S, Schröder C, Leitão E, Berulava T, Haak C, Beißer D, Rahmann S, Richter AS, Manke T, Bönisch U, Arrigoni L, Fröhler S, Klironomos F, Chen W, Rajewsky N, Müller F, Ebert P, Lengauer T, Barann M, Rosenstiel P, Gasparoni G, Nordström K, Walter J, Brors B, Zipprich G, Felder B, Klein-Hitpass L, Attenberger C, Schmitz G, Horsthemke B.

Epigenetics Chromatin. 2016 Jul 29;9:33. doi: 10.1186/s13072-016-0079-z. eCollection 2016.

11.

Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome.

van der Werf IM, Buiting K, Czeschik C, Reyniers E, Vandeweyer G, Vanhaesebrouck P, Lüdecke HJ, Wieczorek D, Horsthemke B, Mortier G, Leroy JG, Kooy RF.

Eur J Hum Genet. 2016 Dec;24(12):1724-1729. doi: 10.1038/ejhg.2016.82. Epub 2016 Jul 13.

12.

Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances.

Bens S, Kolarova J, Beygo J, Buiting K, Caliebe A, Eggermann T, Gillessen-Kaesbach G, Prawitt D, Thiele-Schmitz S, Begemann M, Enklaar T, Gutwein J, Haake A, Paul U, Richter J, Soellner L, Vater I, Monk D, Horsthemke B, Ammerpohl O, Siebert R.

Epigenomics. 2016 Jun;8(6):801-16. doi: 10.2217/epi-2016-0007. Epub 2016 Jun 20.

PMID:
27323310
13.

Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environment.

Grothaus K, Kanber D, Gellhaus A, Mikat B, Kolarova J, Siebert R, Wieczorek D, Horsthemke B.

Epigenetics. 2016 Mar 3;11(3):216-26. doi: 10.1080/15592294.2016.1145330. Epub 2016 Feb 18.

14.

A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome.

Beygo J, Joksic I, Strom TM, Lüdecke HJ, Kolarova J, Siebert R, Mikovic Z, Horsthemke B, Buiting K.

Eur J Hum Genet. 2016 Aug;24(9):1280-6. doi: 10.1038/ejhg.2016.3. Epub 2016 Feb 3.

15.

Postovulatory aging affects dynamics of mRNA, expression and localization of maternal effect proteins, spindle integrity and pericentromeric proteins in mouse oocytes.

Trapphoff T, Heiligentag M, Dankert D, Demond H, Deutsch D, Fröhlich T, Arnold GJ, Grümmer R, Horsthemke B, Eichenlaub-Ritter U.

Hum Reprod. 2016 Jan;31(1):133-49. doi: 10.1093/humrep/dev279. Epub 2015 Nov 17.

16.

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.

Docherty LE, Rezwan FI, Poole RL, Turner CL, Kivuva E, Maher ER, Smithson SF, Hamilton-Shield JP, Patalan M, Gizewska M, Peregud-Pogorzelski J, Beygo J, Buiting K, Horsthemke B, Soellner L, Begemann M, Eggermann T, Baple E, Mansour S, Temple IK, Mackay DJ.

Nat Commun. 2015 Sep 1;6:8086. doi: 10.1038/ncomms9086.

17.

Altering TET dioxygenase levels within physiological range affects DNA methylation dynamics of HEK293 cells.

Grosser C, Wagner N, Grothaus K, Horsthemke B.

Epigenetics. 2015;10(9):819-33. doi: 10.1080/15592294.2015.1073879. Epub 2015 Jul 17.

18.

N6-adenosine methylation in MiRNAs.

Berulava T, Rahmann S, Rademacher K, Klein-Hitpass L, Horsthemke B.

PLoS One. 2015 Feb 27;10(2):e0118438. doi: 10.1371/journal.pone.0118438. eCollection 2015.

19.

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, Beetz C, Graf E, Schwarzmayr T, Douzgou S, Clayton-Smith J, Daly SB, Williams SG, Bhaskar SS, Urquhart JE, Anderson B, O'Sullivan J, Boute O, Gundlach J, Czeschik JC, van Essen AJ, Hazan F, Park S, Hing A, Kuechler A, Lohmann DR, Ludwig KU, Mangold E, Steenpaß L, Zeschnigk M, Lemke JR, Lourenco CM, Hehr U, Prott EC, Waldenberger M, Böhmer AC, Horsthemke B, O'Keefe RT, Meitinger T, Burn J, Lüdecke HJ, Strom TM.

Am J Hum Genet. 2014 Dec 4;95(6):698-707. doi: 10.1016/j.ajhg.2014.10.014. Epub 2014 Nov 26.

20.

Classification and visualization based on derived image features: application to genetic syndromes.

Balliu B, Würtz RP, Horsthemke B, Wieczorek D, Böhringer S.

PLoS One. 2014 Nov 18;9(11):e109033. doi: 10.1371/journal.pone.0109033. eCollection 2014.

21.

Epigenetic germline mosaicism in infertile men.

Laurentino S, Beygo J, Nordhoff V, Kliesch S, Wistuba J, Borgmann J, Buiting K, Horsthemke B, Gromoll J.

Hum Mol Genet. 2015 Mar 1;24(5):1295-304. doi: 10.1093/hmg/ddu540. Epub 2014 Oct 21.

PMID:
25336341
22.

Pre- and postovulatory aging of murine oocytes affect the transcript level and poly(A) tail length of maternal effect genes.

Dankert D, Demond H, Trapphoff T, Heiligentag M, Rademacher K, Eichenlaub-Ritter U, Horsthemke B, Grümmer R.

PLoS One. 2014 Oct 1;9(10):e108907. doi: 10.1371/journal.pone.0108907. eCollection 2014.

23.

Evolutionary origin and methylation status of human intronic CpG islands that are not present in mouse.

Rademacher K, Schröder C, Kanber D, Klein-Hitpass L, Wallner S, Zeschnigk M, Horsthemke B.

Genome Biol Evol. 2014 Jun 12;6(7):1579-88. doi: 10.1093/gbe/evu125.

24.

Clinical utility gene card for: Angelman Syndrome.

Buiting K, Clayton-Smith J, Driscoll DJ, Gillessen-Kaesbach G, Kanber D, Schwinger E, Williams C, Horsthemke B.

Eur J Hum Genet. 2015 Feb;23(2). doi: 10.1038/ejhg.2014.93. Epub 2014 Jun 4. No abstract available.

25.

Clinical utility gene card for: Prader-Willi Syndrome.

Buiting K, Cassidy SB, Driscoll DJ, Gillessen-Kaesbach G, Kanber D, Tauber M, Schwinger E, Horsthemke B.

Eur J Hum Genet. 2014 Sep;22(9). doi: 10.1038/ejhg.2014.66. Epub 2014 Apr 16. No abstract available.

26.

A familial disorder of altered DNA-methylation.

Caliebe A, Richter J, Ammerpohl O, Kanber D, Beygo J, Bens S, Haake A, Jüttner E, Korn B, Mackay DJ, Martin-Subero JI, Nagel I, Sebire NJ, Seidmann L, Vater I, von Kaisenberg CS, Temple IK, Horsthemke B, Buiting K, Siebert R.

J Med Genet. 2014 Jun;51(6):407-12. doi: 10.1136/jmedgenet-2013-102149. Epub 2014 Apr 10.

PMID:
24721835
27.

Clinical phenotypes of MAGEL2 mutations and deletions.

Buiting K, Di Donato N, Beygo J, Bens S, von der Hagen M, Hackmann K, Horsthemke B.

Orphanet J Rare Dis. 2014 Mar 25;9:40. doi: 10.1186/1750-1172-9-40. No abstract available.

28.

Methylation analysis of SST and SSTR4 promoters in the neocortex of Alzheimer's disease patients.

Grosser C, Neumann L, Horsthemke B, Zeschnigk M, van de Nes J.

Neurosci Lett. 2014 Apr 30;566:241-6. doi: 10.1016/j.neulet.2014.02.046. Epub 2014 Mar 3.

PMID:
24602981
29.

The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes.

Neumann LC, Feiner N, Meyer A, Buiting K, Horsthemke B.

Genome Biol Evol. 2014 Feb;6(2):344-51. doi: 10.1093/gbe/evu019.

30.

Leveraging cross-species transcription factor binding site patterns: from diabetes risk loci to disease mechanisms.

Claussnitzer M, Dankel SN, Klocke B, Grallert H, Glunk V, Berulava T, Lee H, Oskolkov N, Fadista J, Ehlers K, Wahl S, Hoffmann C, Qian K, Rönn T, Riess H, Müller-Nurasyid M, Bretschneider N, Schroeder T, Skurk T, Horsthemke B; DIAGRAM+Consortium, Spieler D, Klingenspor M, Seifert M, Kern MJ, Mejhert N, Dahlman I, Hansson O, Hauck SM, Blüher M, Arner P, Groop L, Illig T, Suhre K, Hsu YH, Mellgren G, Hauner H, Laumen H.

Cell. 2014 Jan 16;156(1-2):343-58. doi: 10.1016/j.cell.2013.10.058.

31.

In brief: genomic imprinting and imprinting diseases.

Horsthemke B.

J Pathol. 2014 Apr;232(5):485-7. doi: 10.1002/path.4326. Epub 2014 Jan 29. Review.

PMID:
24395592
32.

The origin of the RB1 imprint.

Kanber D, Buiting K, Roos C, Gromoll J, Kaya S, Horsthemke B, Lohmann D.

PLoS One. 2013 Nov 25;8(11):e81502. doi: 10.1371/journal.pone.0081502. eCollection 2013.

33.

Deep bisulfite sequencing of aberrantly methylated loci in a patient with multiple methylation defects.

Beygo J, Ammerpohl O, Gritzan D, Heitmann M, Rademacher K, Richter J, Caliebe A, Siebert R, Horsthemke B, Buiting K.

PLoS One. 2013 Oct 9;8(10):e76953. doi: 10.1371/journal.pone.0076953. eCollection 2013. Erratum in: PLoS One. 2013;8(12). doi:10.1371/annotation/8a05c514-48b6-4dd9-b322-273b575cbd95.

34.

Human PPP1R26P1 functions as cis-repressive element in mouse Rb1.

Steenpass L, Kanber D, Hiber M, Buiting K, Horsthemke B, Lohmann D.

PLoS One. 2013 Sep 3;8(9):e74159. doi: 10.1371/journal.pone.0074159. eCollection 2013.

35.

Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3.

Martin M, Maßhöfer L, Temming P, Rahmann S, Metz C, Bornfeld N, van de Nes J, Klein-Hitpass L, Hinnebusch AG, Horsthemke B, Lohmann DR, Zeschnigk M.

Nat Genet. 2013 Aug;45(8):933-6. doi: 10.1038/ng.2674. Epub 2013 Jun 23.

36.

Parental diabetes: the Akita mouse as a model of the effects of maternal and paternal hyperglycemia in wildtype offspring.

Grasemann C, Devlin MJ, Rzeczkowska PA, Herrmann R, Horsthemke B, Hauffa BP, Grynpas M, Alm C, Bouxsein ML, Palmert MR.

PLoS One. 2012;7(11):e50210. doi: 10.1371/journal.pone.0050210. Epub 2012 Nov 28.

37.

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.

Beygo J, Citro V, Sparago A, De Crescenzo A, Cerrato F, Heitmann M, Rademacher K, Guala A, Enklaar T, Anichini C, Cirillo Silengo M, Graf N, Prawitt D, Cubellis MV, Horsthemke B, Buiting K, Riccio A.

Hum Mol Genet. 2013 Feb 1;22(3):544-57. doi: 10.1093/hmg/dds465. Epub 2012 Oct 30.

38.

FTO levels affect RNA modification and the transcriptome.

Berulava T, Ziehe M, Klein-Hitpass L, Mladenov E, Thomale J, Rüther U, Horsthemke B.

Eur J Hum Genet. 2013 Mar;21(3):317-23. doi: 10.1038/ejhg.2012.168. Epub 2012 Aug 8.

39.

The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein.

Neumann LC, Markaki Y, Mladenov E, Hoffmann D, Buiting K, Horsthemke B.

Hum Mol Genet. 2012 Sep 15;21(18):4038-48. doi: 10.1093/hmg/dds228. Epub 2012 Jun 13.

PMID:
22694955
40.

Waddington's epigenetic landscape and post-Darwinian biology.

Horsthemke B.

Bioessays. 2012 Aug;34(8):711-2. doi: 10.1002/bies.201200038. Epub 2012 Apr 10. No abstract available.

PMID:
22488123
41.

An Alu element-associated hypermethylation variant of the POMC gene is associated with childhood obesity.

Kuehnen P, Mischke M, Wiegand S, Sers C, Horsthemke B, Lau S, Keil T, Lee YA, Grueters A, Krude H.

PLoS Genet. 2012;8(3):e1002543. doi: 10.1371/journal.pgen.1002543. Epub 2012 Mar 15.

42.

Altered development of NKT cells, γδ T cells, CD8 T cells and NK cells in a PLZF deficient patient.

Eidson M, Wahlstrom J, Beaulieu AM, Zaidi B, Carsons SE, Crow PK, Yuan J, Wolchok JD, Horsthemke B, Wieczorek D, Sant'Angelo DB.

PLoS One. 2011;6(9):e24441. doi: 10.1371/journal.pone.0024441. Epub 2011 Sep 6.

43.

EFS shows biallelic methylation in uveal melanoma with poor prognosis as well as tissue-specific methylation.

Neumann LC, Weinhäusel A, Thomas S, Horsthemke B, Lohmann DR, Zeschnigk M.

BMC Cancer. 2011 Aug 26;11:380. doi: 10.1186/1471-2407-11-380.

44.

Automated syndrome detection in a set of clinical facial photographs.

Boehringer S, Guenther M, Sinigerova S, Wurtz RP, Horsthemke B, Wieczorek D.

Am J Med Genet A. 2011 Sep;155A(9):2161-9. doi: 10.1002/ajmg.a.34157. Epub 2011 Aug 3.

PMID:
21815261
45.

Genetic determination of human facial morphology: links between cleft-lips and normal variation.

Boehringer S, van der Lijn F, Liu F, Günther M, Sinigerova S, Nowak S, Ludwig KU, Herberz R, Klein S, Hofman A, Uitterlinden AG, Niessen WJ, Breteler MM, van der Lugt A, Würtz RP, Nöthen MM, Horsthemke B, Wieczorek D, Mangold E, Kayser M.

Eur J Hum Genet. 2011 Nov;19(11):1192-7. doi: 10.1038/ejhg.2011.110. Epub 2011 Jun 22.

46.

Hormone-induced delayed ovulation affects early embryonic development.

Bittner AK, Horsthemke B, Winterhager E, Grümmer R.

Fertil Steril. 2011 Jun;95(7):2390-4. doi: 10.1016/j.fertnstert.2011.03.022. Epub 2011 Apr 6.

PMID:
21474126
47.

Genetic aspects of familial Ménière's disease.

Arweiler-Harbeck D, Horsthemke B, Jahnke K, Hennies HC.

Otol Neurotol. 2011 Jun;32(4):695-700. doi: 10.1097/MAO.0b013e318216074a.

PMID:
21436747
48.

Aging of Xenopus tropicalis eggs leads to deadenylation of a specific set of maternal mRNAs and loss of developmental potential.

Kosubek A, Klein-Hitpass L, Rademacher K, Horsthemke B, Ryffel GU.

PLoS One. 2010 Oct 22;5(10):e13532. doi: 10.1371/journal.pone.0013532.

49.

Parental origin and functional relevance of a de novo UBE3A variant.

Horsthemke B, Wawrzik M, Gross S, Lich C, Sauer B, Rost I, Krasemann E, Kosyakova N, Liehr T, Weise A, Dybowski JN, Hoffmann D, Wieczorek D.

Eur J Med Genet. 2011 Jan-Feb;54(1):19-24. doi: 10.1016/j.ejmg.2010.09.005. Epub 2010 Oct 8.

PMID:
20933619
50.

Mechanisms of imprint dysregulation.

Horsthemke B.

Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):321-8. doi: 10.1002/ajmg.c.30269. Review.

PMID:
20803654

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