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Page 1
A phenotype map for 14q32.3 terminal deletions.
Engels H, Schüler HM, Zink AM, Wohlleber E, Brockschmidt A, Hoischen A, Drechsler M, Lee JA, Ludwig KU, Kubisch C, Schwanitz G, Weber RG, Leube B, Hennekam RC, Rudnik-Schöneborn S, Kreiss-Nachtsheim M, Reutter H. Engels H, et al. Among authors: weber rg. Am J Med Genet A. 2012 Apr;158A(4):695-706. doi: 10.1002/ajmg.a.35256. Epub 2012 Feb 24. Am J Med Genet A. 2012. PMID: 22367666
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.
Engels H, Wohlleber E, Zink A, Hoyer J, Ludwig KU, Brockschmidt FF, Wieczorek D, Moog U, Hellmann-Mersch B, Weber RG, Willatt L, Kreiss-Nachtsheim M, Firth HV, Rauch A. Engels H, et al. Among authors: weber rg. Eur J Hum Genet. 2009 Dec;17(12):1592-9. doi: 10.1038/ejhg.2009.90. Epub 2009 May 27. Eur J Hum Genet. 2009. PMID: 19471318 Free PMC article.
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.
Brockschmidt A, Todt U, Ryu S, Hoischen A, Landwehr C, Birnbaum S, Frenck W, Radlwimmer B, Lichter P, Engels H, Driever W, Kubisch C, Weber RG. Brockschmidt A, et al. Among authors: weber rg. Hum Mol Genet. 2007 Jun 15;16(12):1488-94. doi: 10.1093/hmg/ddm099. Epub 2007 May 3. Hum Mol Genet. 2007. PMID: 17478476
Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis.
Classen CF, Riehmer V, Landwehr C, Kosfeld A, Heilmann S, Scholz C, Kabisch S, Engels H, Tierling S, Zivicnjak M, Schacherer F, Haffner D, Weber RG. Classen CF, et al. Among authors: weber rg. Hum Genet. 2013 Jul;132(7):825-41. doi: 10.1007/s00439-013-1296-1. Epub 2013 Apr 4. Hum Genet. 2013. PMID: 23552953 Clinical Trial.
85 results