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Ulrich Zechner

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Rubinstein-Taybi Syndrome

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Julia C Schröder; Ulrich Zechner; John C Castle; Stefan Diederich; Danuta Galetzka; Annerose Keilmann; Anne K Läßig; Wibke Müller-Forell; Angelika Peters; Oliver Bartsch
A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant].
M Linke; A May; Kurt Reifenberg; Thomas Haaf; Ulrich Zechner
The impact of ovarian stimulation on the expression of candidate reprogramming genes in mouse preimplantation embryos.
Lukasz Smorag; Ulrich Zechner; Ying Zheng; Wolfgang Engel; Jessica Nolte; Dasaradha Venkata Krishna Pantakani
MicroRNA signature in various cell types of mouse spermatogenesis: evidence for stage-specifically expressed miRNA-221, -203 and -34b-5p mediated spermatogenesis regulation.

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2013: Julia C Schröder; Ulrich Zechner; John C Castle; Stefan Diederich; Danuta Galetzka; Annerose Keilmann; Anne K Läßig; Wibke Müller-Forell; Angelika Peters; Oliver Bartsch
A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant].
Behavioral and brain functions : BBF 2013;9():7.
2013: M Linke; A May; Kurt Reifenberg; Thomas Haaf; Ulrich Zechner
The impact of ovarian stimulation on the expression of candidate reprogramming genes in mouse preimplantation embryos.
Cytogenetic and genome research 2013;139(2):71-9.
2012: Lukasz Smorag; Ulrich Zechner; Ying Zheng; Wolfgang Engel; Jessica Nolte; Dasaradha Venkata Krishna Pantakani
MicroRNA signature in various cell types of mouse spermatogenesis: evidence for stage-specifically expressed miRNA-221, -203 and -34b-5p mediated spermatogenesis regulation.
Biology of the cell / under the auspices of the European Cell Biology Organization 2012;104(11):677-92.
2012: André Kidszun; Alexandra Russo; Ulrich Zechner; Marius Bartsch; Oliver Bartsch; V Beyer; Gabriele Frey-Mahn; Anne-Jule Fuchs; Eva Mildenberger
Skeletal abnormalities of the upper limbs -- neonatal diagnosis of 49,XXXXY syndrome.
Gene 2012;508(1):117-20.
2012: Daniel Siuda; Ning Xia; Ulrich Zechner; Andrea Pautz; Dirk Prawitt; Nady El Hajj; Ulrich Förstermann; Sven Horke; Hartmut Kleinert; David Langer; Huige Li
Transcriptional regulation of Nox4 by histone deacetylases in human endothelial cells.
Basic research in cardiology 2012;107(5):283.
2012: E Schneider; Ulrich Zechner; Hans Zischler; R E Bontrop; N El Hajj; E Fuchs; Lars Riff Jensen; Ivanela Kondova; Andreas W Kuss; S Mayer; B Navarro; Thomas Haaf
Methylation and expression analyses of the 7q autism susceptibility locus genes MEST , COPG2, and TSGA14 in human and anthropoid primate cortices.
Cytogenetic and genome research 2012;136(4):278-87.
2012: Danuta Galetzka; Oliver Bartsch; V Beyer; Nady El Hajj; Tamara Hansmann; Benjamin Irmscher; Nicolai Kohlschmidt; Marco Ludwig; Brigitte Schneider-Rätzke; Claudia Spix; Eva Weis; Ulrich Zechner; Thomas Haaf
Monozygotic twins discordant for constitutive BRCA1 promoter methylation, childhood cancer and secondary cancer.
Epigenetics : official journal of the DNA Methylation Society 2012;7(1):47-54.
2011: Tatjana Khromov; D V Krishna Pantakani; Jessica Nolte; Marieke Wolf; Ralf Dressel; Wolfgang Engel; Ulrich Zechner
Global and gene-specific histone modification profiles of mouse multipotent adult germline stem cells.
Molecular human reproduction 2011;17(3):166-74.
2011: Ulrich Zechner; H Hameister
Sex chromosomes in vertebrates: XX/XY against ZZ/ZW.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2011;5(5):266-71.
2011: Xingbo Xu; Ulrich Zechner; Ralf Dressel; Tatjana Khromov; Sandra Lührig; Jessica Nolte; D V Krishna Pantakani; Xiaoying Tan; Wolfgang Engel
Stage-specific germ-cell marker genes are expressed in all mouse pluripotent cell types and emerge early during induced pluripotency.
PloS one 2011;6(7):e22413.
2011: N El Hajj; Ulrich Zechner; E Schneider; A Tresch; J Gromoll; T Hahn; M Schorsch; Thomas Haaf
Methylation status of imprinted genes and repetitive elements in sperm DNA from infertile males.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2011;5(2):60-9.
2010: Tom Trapphoff; Nady El Hajj; Ulrich Zechner; Thomas Haaf; Ursula Eichenlaub-Ritter
DNA integrity, growth pattern, spindle formation, chromosomal constitution and imprinting patterns of mouse oocytes from vitrified pre-antral follicles.
Human reproduction (Oxford, England) 2010;25(12):3025-42.
2010: Jessica Nolte; Hans-Wilhelm Michelmann; Marieke Wolf; Gerald Wulf; Karim Nayernia; Andreas Meinhardt; Ulrich Zechner; Wolfgang Engel
PSCDGs of mouse multipotent adult germline stem cells can enter and progress through meiosis to form haploid male germ cells in vitro.
Differentiation; research in biological diversity 2010;80(4-5):184-94.
2010: Athanasios Zovoilis; Angeliki Pantazi; Lukasz Smorag; Lennart Opitz; Gabriela Salinas Riester; Marieke Wolf; Ulrich Zechner; Anna Holubowska; Colin L Stewart; Wolfgang Engel
Embryonic stem cell-related miRNAs are involved in differentiation of pluripotent cells originating from the germ line.
Molecular human reproduction 2010;16(11):793-803.
2010: Oliver Bartsch; Wolfram Kress; Olga Kempf; Stanislav Lechno; Thomas Haaf; Ulrich Zechner
Inheritance and variable expression in Rubinstein-Taybi syndrome.
American journal of medical genetics. Part A 2010;152A(9):2254-61.
2010: Ulrich Zechner; Galyna Pliushch; Eberhard Schneider; Nady El Hajj; Achim Tresch; Yoel Shufaro; Larissa Seidmann; Wiltrud Coerdt; Annette M Müller; Thomas Haaf
Quantitative methylation analysis of developmentally important genes in human pregnancy losses after ART and spontaneous conception.
Molecular human reproduction 2010;16(9):704-13.
2010: Oliver Bartsch; Eberhard Schneider; Natalja Damatova; Roger Weis; Maria Tufano; Raffaele Iorio; Alischo Ahmed; V Beyer; Ulrich Zechner; Thomas Haaf
Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome.
American journal of medical genetics. Part A 2010;152A(8):2099-102.
2010: Eberhard Schneider; Galyna Pliushch; Nady El Hajj; Danuta Galetzka; Alexander Puhl; Martin Schorsch; Katrin Frauenknecht; Thomas Riepert; Achim Tresch; Annette M Müller; Wiltrud Coerdt; Ulrich Zechner; Thomas Haaf
Spatial, temporal and interindividual epigenetic variation of functionally important DNA methylation patterns.
Nucleic acids research 2010;38(12):3880-90.
2010: Galyna Pliushch; Eberhard Schneider; Daniela Weise; Nady El Hajj; Achim Tresch; Larissa Seidmann; Wiltrud Coerdt; Annette M Müller; Ulrich Zechner; Thomas Haaf
Extreme methylation values of imprinted genes in human abortions and stillbirths.
The American journal of pathology 2010;176(3):1084-90.
2010: Oliver Bartsch; Konstanze Gebauer; Stanislav Lechno; Hilde van Esch; Guy Froyen; Michael Bonin; Jörg Seidel; Barbara Thamm-Mücke; Denise Horn; Eva Klopocki; Christoph Hertzberg; Ulrich Zechner; Thomas Haaf
Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.
American journal of medical genetics. Part A 2010;152A(2):305-12.
2010: Oliver Bartsch; Janette Labonté; Beate Albrecht; Dagmar Wieczorek; Stanislav Lechno; Ulrich Zechner; Thomas Haaf
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.
American journal of medical genetics. Part A 2010;152A(1):181-4.
2009: Ulrich Zechner; Nicolai Kohlschmidt; Olga Kempf; Konstanze Gebauer; Karsten Haug; Hartmut Engels; Thomas Haaf; Oliver Bartsch
Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema.
European journal of medical genetics 2009;52(5):306-10.
2009: Ulrich Zechner; Jessica Nolte; Marieke Wolf; Katayoon Shirneshan; Nady El Hajj; Daniela Weise; Britta Kaltwasser; Athanasios Zovoilis; Thomas Haaf; Wolfgang Engel
Comparative methylation profiles and telomerase biology of mouse multipotent adult germline stem cells and embryonic stem cells.
Molecular human reproduction 2009;15(6):345-53.
2009: Ruxandra Farcas; Eberhard Schneider; Katrin Frauenknecht; Ivanela Kondova; Ronald Bontrop; Jürgen Bohl; Bianca Navarro; Markus Metzler; Hans Zischler; Ulrich Zechner; Angelika Daser; Thomas Haaf
Differences in DNA methylation patterns and expression of the CCRK gene in human and nonhuman primate cortices.
Molecular biology and evolution 2009;26(6):1379-89.
2009: Ulrich Zechner; Nicolai Kohlschmidt; G Rittner; N Damatova; V Beyer; Thomas Haaf; Oliver Bartsch
Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype.
Clinical genetics 2009;75(3):251-8.
2009: Eberhard Schneider; Tina Märker; Angelika Daser; Gabriele Frey-Mahn; V Beyer; Ruxandra Farcas; Brigitte Schneider-Rätzke; Nicolai Kohlschmidt; Bärbel Grossmann; Katharina Bauss; Ulrike Napiontek; Annerose Keilmann; Oliver Bartsch; Ulrich Zechner; Uwe Wolfrum; Thomas Haaf
Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.
Human molecular genetics 2009;18(4):655-66.
2009: N Damatova; V Beyer; Danuta Galetzka; E Schneider; Ulrike Napiontek; Annerose Keilmann; Ulrich Zechner; Oliver Bartsch; Thomas Haaf
Haploinsufficiency of 16.4 Mb from chromosome 22pter-q11.21 in a girl with unilateral conductive hearing loss.
Cytogenetic and genome research 2009;125(3):241-7.
2009: Holger Herlyn; Ulrich Zechner; Franz Oswald; Arne Pfeufer; Hans Zischler; Thomas Haaf
Positive selection at codon 38 of the human KCNE1 (= minK) gene and sporadic absence of 38Ser-coding mRNAs in Gly38Ser heterozygotes.
BMC evolutionary biology 2009;9():188.
2009: Andreas May; Roland Kirchner; Helena Müller; Petra Hartmann; Nady El Hajj; Achim Tresch; Ulrich Zechner; Wolfgang Mann; Thomas Haaf
Multiplex rt-PCR expression analysis of developmentally important genes in individual mouse preimplantation embryos and blastomeres.
Biology of reproduction 2009;80(1):194-202.
2008: Fritz Dünschede; Elisabeth Tybl; Alexandra K Kiemer; Philipp Dutkowski; Kirsten Erbes; Achim Kircher; Ines Gockel; Ulrich Zechner; Arno Schad; Hauke Lang; Theodor Junginger; Oliver Kempski
Bcl-2 upregulation after 3-nitropropionic acid preconditioning in warm rat liver ischemia.
Shock (Augusta, Ga.) 2008;30(6):699-704.
2008: Andreas May; Kurt Reifenberg; Ulrich Zechner; Thomas Haaf
Asynchronous replication dynamics of imprinted and non-imprinted chromosome regions in early mouse embryos.
Experimental cell research 2008;314(15):2788-95.
2007: Nico Ruf; Sylvia Bähring; Danuta Galetzka; Galyna Pliushch; Friedrich C Luft; Peter Nürnberg; Thomas Haaf; Gavin Kelsey; Ulrich Zechner
Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassium channel gene in mouse and human.
Human molecular genetics 2007;16(21):2591-9.
2007: Michael Korenkov; Nicolai Kohlschmidt; Ulrich Zechner; Thomas Haaf; Theodor Junginger
[Obesity surgery in patients suffering from monogenetic adipositas].
Zentralblatt für Chirurgie 2007;132(3):256-9.
2007: Ying Yue; Ruxandra Farcas; Gundula Thiel; Christiane Bommer; Bärbel Grossmann; Danuta Galetzka; Christine Kelbova; Peter Küpferling; Angelika Daser; Ulrich Zechner; Thomas Haaf
De novo t(12;17)(p13.3;q21.3) translocation with a breakpoint near the 5' end of the HOXB gene cluster in a patient with developmental delay and skeletal malformations.
European journal of human genetics : EJHG 2007;15(5):570-7.
2007: Oliver Bartsch; Z Vlcková; Fikret Erdogan; Reinhard Ullmann; Drahuse Novotná; Miriam Spiegel; V Beyer; Thomas Haaf; Ulrich Zechner; Eva Seemanová
Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis.
Cytogenetic and genome research 2007;119(1-2):158-64.
2007: Ulrich Dünzinger; Thomas Haaf; Ulrich Zechner
Conserved synteny of mammalian imprinted genes in chicken, frog, and fish genomes.
Cytogenetic and genome research 2007;117(1-4):78-85.
2006: Ying Yue; Bärbel Grossmann; Danuta Galetzka; Ulrich Zechner; Thomas Haaf
Isolation and differential expression of two isoforms of the ROBO2/Robo2 axon guidance receptor gene in humans and mice.
Genomics 2006;88(6):772-8.
2006: Birgit Haack; K Schmalisch; Monica Palmada; Christoph Böhmer; Nicolai Kohlschmidt; Annerose Keilmann; Ulrich Zechner; Annette Limberger; Stefan Beckert; Hans-Peter Zenner; Florian Lang; Susan Kupka
Deficient membrane integration of the novel p.N14D-GJB2 mutant associated with non-syndromic hearing impairment.
Human mutation 2006;27(11):1158-9.
2006: Nico Ruf; Ulrich Dünzinger; Anja Brinckmann; Thomas Haaf; Peter Nürnberg; Ulrich Zechner
Expression profiling of uniparental mouse embryos is inefficient in identifying novel imprinted genes.
Genomics 2006;87(4):509-19.
2006: Ying Yue; Karen Stout; Bärbel Grossmann; Ulrich Zechner; A Brinckmann; C White; D T Pilz; Thomas Haaf
Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections.
Journal of medical genetics 2006;43(2):143-7.
2005: Ulrich Dünzinger; Indrajit Nanda; Michael Schmid; Thomas Haaf; Ulrich Zechner
Chicken orthologues of mammalian imprinted genes are clustered on macrochromosomes and replicate asynchronously.
Trends in genetics : TIG 2005;21(9):488-92.