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LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients.
Endele S, Fuhry M, Pak SJ, Zabel BU, Winterpacht A. Endele S, et al. Genomics. 1999 Sep 1;60(2):218-25. doi: 10.1006/geno.1999.5881. Genomics. 1999. PMID: 10486213
Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor.
Prawitt D, Enklaar T, Gärtner-Rupprecht B, Spangenberg C, Oswald M, Lausch E, Schmidtke P, Reutzel D, Fees S, Lucito R, Korzon M, Brozek I, Limon J, Housman DE, Pelletier J, Zabel B. Prawitt D, et al. Proc Natl Acad Sci U S A. 2005 Mar 15;102(11):4085-90. doi: 10.1073/pnas.0500037102. Epub 2005 Mar 2. Proc Natl Acad Sci U S A. 2005. PMID: 15743916 Free PMC article.
Divergently transcribed overlapping genes expressed in liver and kidney and located in the 11p15.5 imprinted domain.
Cooper PR, Smilinich NJ, Day CD, Nowak NJ, Reid LH, Pearsall RS, Reece M, Prawitt D, Landers J, Housman DE, Winterpacht A, Zabel BU, Pelletier J, Weissman BE, Shows TB, Higgins MJ. Cooper PR, et al. Genomics. 1998 Apr 1;49(1):38-51. doi: 10.1006/geno.1998.5221. Genomics. 1998. PMID: 9570947
Functional characterization of human nucleosome assembly protein-2 (NAP1L4) suggests a role as a histone chaperone.
Rodriguez P, Munroe D, Prawitt D, Chu LL, Bric E, Kim J, Reid LH, Davies C, Nakagama H, Loebbert R, Winterpacht A, Petruzzi MJ, Higgins MJ, Nowak N, Evans G, Shows T, Weissman BE, Zabel B, Housman DE, Pelletier J. Rodriguez P, et al. Genomics. 1997 Sep 15;44(3):253-65. doi: 10.1006/geno.1997.4868. Genomics. 1997. PMID: 9325046
The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.
Winterpacht A, Superti-Furga A, Schwarze U, Stöss H, Steinmann B, Spranger J, Zabel B. Winterpacht A, et al. J Med Genet. 1996 Aug;33(8):649-54. doi: 10.1136/jmg.33.8.649. J Med Genet. 1996. PMID: 8863156 Free PMC article.
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis.
Mari F, Hermanns P, Giovannucci-Uzielli ML, Galluzzi F, Scott D, Lee B, Renieri A, Unger S, Zabel B, Superti-Furga A. Mari F, et al. Eur J Hum Genet. 2009 Sep;17(9):1141-7. doi: 10.1038/ejhg.2009.27. Epub 2009 Mar 11. Eur J Hum Genet. 2009. PMID: 19277063 Free PMC article.
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.
Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Hinkel GK, Powell CM, Shaffer LG, Willems PJ. Bartsch O, et al. Am J Hum Genet. 1996 Apr;58(4):734-42. Am J Hum Genet. 1996. PMID: 8644736 Free PMC article.
Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia.
Winterpacht A, Schwarze U, Mundlos S, Menger H, Spranger J, Zabel B. Winterpacht A, et al. Hum Mol Genet. 1994 Oct;3(10):1891-3. doi: 10.1093/hmg/3.10.1891. Hum Mol Genet. 1994. PMID: 7849719 No abstract available.
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