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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
LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein.
Schlickum S, Moghekar A, Simpson JC, Steglich C, O'Brien RJ, Winterpacht A, Endele SU. Schlickum S, et al. Among authors: endele su. Genomics. 2004 Feb;83(2):254-61. doi: 10.1016/j.ygeno.2003.08.013. Genomics. 2004. PMID: 14706454
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.
Popp B, Støve SI, Endele S, Myklebust LM, Hoyer J, Sticht H, Azzarello-Burri S, Rauch A, Arnesen T, Reis A. Popp B, et al. Among authors: endele s. Eur J Hum Genet. 2015 May;23(5):602-9. doi: 10.1038/ejhg.2014.150. Epub 2014 Aug 6. Eur J Hum Genet. 2015. PMID: 25099252 Free PMC article.
C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development.
Endele S, Nelkenbrecher C, Bördlein A, Schlickum S, Winterpacht A. Endele S, et al. Neurogenetics. 2011 May;12(2):155-63. doi: 10.1007/s10048-011-0275-8. Epub 2011 Feb 2. Neurogenetics. 2011. PMID: 21287218
Assignment of the human diacylglycerol kinase 4 (DAGK4) gene to chromosome 4p16.3.
Endele S, Zabel B, Winterpacht A. Endele S, et al. Genomics. 1996 Apr 1;33(1):145-6. doi: 10.1006/geno.1996.0174. Genomics. 1996. PMID: 8617502 No abstract available.
Human CLAPS2 encoding AP17, a small chain of the clathrin-associated protein complex: cDNA cloning and chromosomal assignment to 19q13.2-->q13.3.
Winterpacht A, Endele S, Enklaar T, Fuhry M, Zabel B. Winterpacht A, et al. Among authors: endele s. Cytogenet Cell Genet. 1996;75(2-3):132-5. doi: 10.1159/000134463. Cytogenet Cell Genet. 1996. PMID: 9040778
Identification of novel exons 3' to the human SNRPN gene.
Buiting K, Dittrich B, Endele S, Horsthemke B. Buiting K, et al. Among authors: endele s. Genomics. 1997 Feb 15;40(1):132-7. doi: 10.1006/geno.1996.4571. Genomics. 1997. PMID: 9070929
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.
Kuechler A, Zink AM, Wieland T, Lüdecke HJ, Cremer K, Salviati L, Magini P, Najafi K, Zweier C, Czeschik JC, Aretz S, Endele S, Tamburrino F, Pinato C, Clementi M, Gundlach J, Maylahn C, Mazzanti L, Wohlleber E, Schwarzmayr T, Kariminejad R, Schlessinger A, Wieczorek D, Strom TM, Novarino G, Engels H. Kuechler A, et al. Among authors: endele s. Eur J Hum Genet. 2015 Jun;23(6):753-60. doi: 10.1038/ejhg.2014.165. Epub 2014 Aug 20. Eur J Hum Genet. 2015. PMID: 25138099 Free PMC article.
A novel myosin heavy chain gene in human chromosome 19q13.3.
Leal A, Endele S, Stengel C, Huehne K, Loetterle J, Barrantes R, Winterpacht A, Rautenstrauss B. Leal A, et al. Among authors: endele s. Gene. 2003 Jul 17;312:165-71. doi: 10.1016/s0378-1119(03)00613-9. Gene. 2003. PMID: 12909352
LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability.
Dimmer KS, Navoni F, Casarin A, Trevisson E, Endele S, Winterpacht A, Salviati L, Scorrano L. Dimmer KS, et al. Among authors: endele s. Hum Mol Genet. 2008 Jan 15;17(2):201-14. doi: 10.1093/hmg/ddm297. Epub 2007 Oct 9. Hum Mol Genet. 2008. PMID: 17925330
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