Search Results - "Dittrich, Bärbel"

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene by Dittrich, Bärbel, Buiting, Karin, Korn, Bernd, Rickard, Sarah, Buxton, Jessica, Saitoh, Shinji, Nicholls, Robert D, Poustka, Annemarie, Winterpacht, Andreas, Zabel, Bernhard, Horsthemke, Bernhard

“…Imprinting on human chromosome 15 is regulated by an imprinting centre, which has been mapped to a 100-kb region including exon 1 of SNRPN. From this region we…”
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Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15 by Dittrich, Bärbel, Saitoh, Shinji, Schwartz, Stuart, Buiting, Karin, Nicholls, Robert D, Gross, Stephanie, Horsthemke, Bernhard

“…A subset of patients with Angelman and Prader-Willi syndrome have apparently normal chromosomes of biparental origin, but abnormal DNA methylation at several…”
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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 by Färber, Claudia, Dittrich, Bärbel, Buiting, Karin, Horsthemke, Bernhard

“…Imprinting of the Prader-Willi/Angelman syndrome region on human chromosome 15 is regu1Ated by an imprinting centre (IC), which spans 5′ exons of the gene…”
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Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis by Buiting, Karin, Dittrich, Bärbel, Groß, Stephanie, Lich, Christina, Färber, Claudia, Buchholz, Tina, Smith, Ellie, Reis, André, Bürger, Joachim, Nöthen, Markus M., Barth-Witte, Ulli, Janssen, Bart, Abeliovich, Dvorah, Lerer, Israela, van den Ouweland, Ans M.W., Halley, Dicky J.J., Schrander-Stumpel, Connie, Smeets, Hubert, Meinecke, Peter, Malcolm, Sue, Gardner, Anne, Lalande, Marc, Nicholls, Robert D., Friend, Kathie, Schulze, Astrid, Matthijs, Gert, Kokkonen, Hannaleena, Hilbert, Pascale, Van Maldergem, Lionel, Glover, Guillermo, Carbonell, Pablo, Willems, Patrick, Gillessen-Kaesbach, Gabriele, Horsthemke, Bernhard

“…The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are caused by the loss of function of imprinted genes in proximal 15q. In ∼2%–4% of patients,…”
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Imprinted Segments in the Human Genome: Different Dna Methylation Patterns in the Prader-Willi/Angelman Syndrome Region As Determined by the Genomic Sequencing Method by Zeschnigk, Michael, Schmitz, Birgit, Dittrich, Bärbel, Buiting, Karin, Horsthemke, Bernhard, Doerfler, Walter

“…A deletion of 15q11-q13 and uniparental disomy 15 lead to Prader-Labhart-Willi syndrome (PWS) or Angelman syndrome (AS) because this region contains genes…”
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Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes by REIS, A, DITTRICH, B, GREGER, V, BUITING, K, LALANDE, M, GILLESSEN-KAESBACH, G, ANVRET, M, HORSTHEMKE, B

“…The D15S9 and D15S63 loci in the Prader-Willi/Angelman syndrome region on chromosome 15 are subject to parent-of-origin-specific DNA methylation. We have found…”
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Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region by Dittrich, B, Buiting, K, Gross, S, Horsthemke, B

“…In adult human tissues, a HpaII and a CfoI restriction site at the PW71 (D15S63) locus in the Prader-Willi syndrome region on chromosome 15 are methylated on…”
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Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13 by DITTRICH, B, ROBINSON, W. P, KNOBLAUCH, H, BUITING, K, SCHMIDT, K, GILLESSEN-KAESBACH, G, HORSTHEMKE, B

“…The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are distinct genetic disorders that are caused by a deletion of chromosome region 15q11-13 or by…”
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Imprinting mutations on human chromosome 15 by Horsthemke, Bernhard, Dittrich, Bärbel, Buiting, Karin

“…Genomic imprinting is an epigenetic process by which the male and the female germline of viviparous taxa confer a sex‐specific mark (imprint) on certain…”
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Different Mechanisms and Recurrence Risks of Imprinting Defects in Angelman Syndrome by Bürger, Joachim, Buiting, Karin, Dittrich, Bärbel, Groß, Stephanie, Lich, Christina, Sperling, Karl, Horsthemke, Bernhard, Reis, André

“…Angelman syndrome (AS) is a neurogenetic disorder that appears to be caused by the loss of function of an imprinted gene expressed from maternal chromosome 15…”
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Identification of novel exons 3' to the human SNRPN gene by BUITING, K, DITTRICH, B, ENDELE, S, HORSTHEMKE, B

“…The gene for the small nuclear ribonucleoprotein N (SNRPN) maps to human chromosome 15 and has 10 exons. Using cDNA cloning, direct cDNA selection, and…”
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Identification of Novel Exons 3′ to the HumanSNRPNGene by Buiting, Karin, Dittrich, Bärbel, Endele, Sabine, Horsthemke, Bernhard

“…The gene for the small nuclear ribonucleoprotein N (SNRPN) maps to human chromosome 15 and has 10 exons. Using cDNA cloning, direct cDNA selection, and…”
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A 28-kb Deletion Spanning D15S63 (PW71) in Five Families: A Rare Neutral Variant? by Buiting, Karin, Dittrich, Bärbel, Dworniczak, Bernd, Lerer, Israela, Abeliovich, Dvorah, Cottrell, Sally, Temple, I. Karen, Harvey, John F., Lich, Christina, Groß, Stephanie, Horsthemke, Bernhard

“…Methylation analysis with probe PW71 ( D15S63) is an established procedure to test patients suspected of having Prader-Willi syndrome or Angelman syndrome…”
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Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications by Buiting, K, Dittrich, B, Robinson, W P, Guitart, M, Abeliovich, D, Lerer, I, Horsthemke, B

“…Most patients with Prader-Willi syndrome have a deletion of 15q11-13 or maternal uniparental disomy for chromosome 15. The shortest region of deletion overlap…”
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An insertion/deletion polymorphism at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-13 by Dittrich, B, Buiting, K, Gross, S, Horsthemke, B

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Characterization of a DNA sequence family in the Prader-Willi/Angelman syndrome chromosome region in 15q11-q13 by Dittrich, B, Knoblauch, H, Buiting, K, Horsthemke, B

“…IR4-3R (D15S11) is an anonymous DNA sequence from human chromosome 15. Using YAC cloning and restriction enzyme analysis, we have found that IR4-3R detects…”
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The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and containsan upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion by Farber, Claudia, Dittrich, Barbel, Buiting, Karin, Horsthemke, Bernhard

“…Imprinting of the Prader-Willi/Angelman syndrome region on human chromosome 15 is regulated by an imprinting centre (IC), which spans 5' exons of the gene…”
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PW71 methylation test for Prader-Willi and angelman syndromes by Dittrich, Bärbel, Buiting, Karin, Horsthemke, Bernhard

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