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Year | Number of Results |
---|---|
1999 | 1 |
2005 | 1 |
2010 | 1 |
2013 | 2 |
2024 | 0 |
PubMed (cited) for id: 609367
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Page 1
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.
Neurogenetics. 2013 Nov;14(3-4):215-24. doi: 10.1007/s10048-013-0373-x. Epub 2013 Sep 27.
Neurogenetics. 2013.
PMID: 24072599
KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.
Drévillon L, Megarbane A, Demeer B, Matar C, Benit P, Briand-Suleau A, Bodereau V, Ghoumid J, Nasser M, Decrouy X, Doco-Fenzy M, Rustin P, Gaillard D, Goossens M, Giurgea I.
Drévillon L, et al.
Hum Mol Genet. 2013 Jun 15;22(12):2387-99. doi: 10.1093/hmg/ddt083. Epub 2013 Feb 19.
Hum Mol Genet. 2013.
PMID: 23427148
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KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation.
Alves MM, Burzynski G, Delalande JM, Osinga J, van der Goot A, Dolga AM, de Graaff E, Brooks AS, Metzger M, Eisel UL, Shepherd I, Eggen BJ, Hofstra RM.
Alves MM, et al.
Hum Mol Genet. 2010 Sep 15;19(18):3642-51. doi: 10.1093/hmg/ddq280. Epub 2010 Jul 9.
Hum Mol Genet. 2010.
PMID: 20621975
Free PMC article.
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Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM.
Brooks AS, et al.
Am J Hum Genet. 2005 Jul;77(1):120-6. doi: 10.1086/431244. Epub 2005 May 9.
Am J Hum Genet. 2005.
PMID: 15883926
Free PMC article.
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Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T, Ishikawa K, Kikuno R, Hirosawa M, Nomura N, Ohara O.
Nagase T, et al.
DNA Res. 1999 Oct 29;6(5):337-45. doi: 10.1093/dnares/6.5.337.
DNA Res. 1999.
PMID: 10574462
Free article.
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