Gusella JF - Search Results

1

Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.

Smith MJ, Walker JA, Shen Y, Stemmer-Rachamimov A, Gusella JF, Plotkin SR. Smith MJ, et al. Among authors: gusella jf. Hum Mol Genet. 2012 Dec 15;21(24):5239-45. doi: 10.1093/hmg/dds370. Epub 2012 Sep 4. Hum Mol Genet. 2012. PMID: 22949514 Free PMC article.

2

Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis.

Jacoby LB, Jones D, Davis K, Kronn D, Short MP, Gusella J, MacCollin M. Jacoby LB, et al. Am J Hum Genet. 1997 Dec;61(6):1293-302. doi: 10.1086/301633. Am J Hum Genet. 1997. PMID: 9399891 Free PMC article.

3

Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.

Cuajungco MP, Leyne M, Mull J, Gill SP, Lu W, Zagzag D, Axelrod FB, Maayan C, Gusella JF, Slaugenhaupt SA. Cuajungco MP, et al. Among authors: gusella jf. Am J Hum Genet. 2003 Mar;72(3):749-58. doi: 10.1086/368263. Epub 2003 Feb 6. Am J Hum Genet. 2003. PMID: 12577200 Free PMC article.

4

Rescue of a human mRNA splicing defect by the plant cytokinin kinetin.

Slaugenhaupt SA, Mull J, Leyne M, Cuajungco MP, Gill SP, Hims MM, Quintero F, Axelrod FB, Gusella JF. Slaugenhaupt SA, et al. Among authors: gusella jf. Hum Mol Genet. 2004 Feb 15;13(4):429-36. doi: 10.1093/hmg/ddh046. Epub 2004 Jan 6. Hum Mol Genet. 2004. PMID: 14709595

5

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.

Zeng WQ, Al-Yamani E, Acierno JS Jr, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF. Zeng WQ, et al. Among authors: gusella jf. Am J Hum Genet. 2005 Jul;77(1):16-26. doi: 10.1086/431216. Epub 2005 May 3. Am J Hum Genet. 2005. PMID: 15871139 Free PMC article.

6

HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism.

Seong IS, Ivanova E, Lee JM, Choo YS, Fossale E, Anderson M, Gusella JF, Laramie JM, Myers RH, Lesort M, MacDonald ME. Seong IS, et al. Among authors: gusella jf. Hum Mol Genet. 2005 Oct 1;14(19):2871-80. doi: 10.1093/hmg/ddi319. Epub 2005 Aug 22. Hum Mol Genet. 2005. PMID: 16115812

7

Inactivation patterns of NF2 and DAL-1/4.1B (EPB41L3) in sporadic meningioma.

Nunes F, Shen Y, Niida Y, Beauchamp R, Stemmer-Rachamimov AO, Ramesh V, Gusella J, MacCollin M. Nunes F, et al. Cancer Genet Cytogenet. 2005 Oct 15;162(2):135-9. doi: 10.1016/j.cancergencyto.2005.04.003. Cancer Genet Cytogenet. 2005. PMID: 16213361

8

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.

Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL. Lu W, et al. Among authors: gusella jf. Am J Hum Genet. 2007 Apr;80(4):616-32. doi: 10.1086/512735. Epub 2007 Feb 14. Am J Hum Genet. 2007. PMID: 17357069 Free PMC article.

9

Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.

Shen Y, Irons M, Miller DT, Cheung SW, Lip V, Sheng X, Tomaszewicz K, Shao H, Fang H, Tang HS, Irons M, Walsh CA, Platt O, Gusella JF, Wu BL. Shen Y, et al. Among authors: gusella jf. Clin Chem. 2007 Dec;53(12):2051-9. doi: 10.1373/clinchem.2007.090290. Epub 2007 Sep 27. Clin Chem. 2007. PMID: 17901113

10

Modeling NF2 with human arachnoidal and meningioma cell culture systems: NF2 silencing reflects the benign character of tumor growth.

James MF, Lelke JM, Maccollin M, Plotkin SR, Stemmer-Rachamimov AO, Ramesh V, Gusella JF. James MF, et al. Among authors: gusella jf. Neurobiol Dis. 2008 Feb;29(2):278-92. doi: 10.1016/j.nbd.2007.09.002. Epub 2007 Sep 19. Neurobiol Dis. 2008. PMID: 17962031 Free PMC article.

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