Searby C - Search Results

1

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.

McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, Chu K, Iyer R, Cruz P, Cherukuri PF, Hansen NF, Mullikin JC; NISC Comparative Sequencing Program; Biesecker LG, Wilson TE, Ionasescu V, Nicholson G, Searby C, Talbot K, Vance JM, Züchner S, Szigeti K, Lupski JR, Hou YM, Green ED, Antonellis A. McLaughlin HM, et al. Among authors: searby c. Am J Hum Genet. 2010 Oct 8;87(4):560-6. doi: 10.1016/j.ajhg.2010.09.008. Am J Hum Genet. 2010. PMID: 20920668 Free PMC article.

2

Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.

Griffin LB, Sakaguchi R, McGuigan D, Gonzalez MA, Searby C, Züchner S, Hou YM, Antonellis A. Griffin LB, et al. Among authors: searby c. Hum Mutat. 2014 Nov;35(11):1363-71. doi: 10.1002/humu.22681. Hum Mutat. 2014. PMID: 25168514 Free PMC article.

3

Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.

Ionasescu VV, Trofatter J, Haines JL, Summers AM, Ionasescu R, Searby C. Ionasescu VV, et al. Among authors: searby c. Am J Hum Genet. 1991 Jun;48(6):1075-83. Am J Hum Genet. 1991. PMID: 1674639 Free PMC article.

4

Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.

Ionasescu V, Searby C, Ionasescu R. Ionasescu V, et al. Among authors: searby c. Hum Mol Genet. 1994 Feb;3(2):355-8. doi: 10.1093/hmg/3.2.355. Hum Mol Genet. 1994. PMID: 8004109

5

Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy.

Ionasescu V, Ionasescu R, Searby C. Ionasescu V, et al. Among authors: searby c. Am J Med Genet. 1996 Jun 14;63(3):486-91. doi: 10.1002/(SICI)1096-8628(19960614)63:3<486::AID-AJMG14>3.0.CO;2-I. Am J Med Genet. 1996. PMID: 8737658

6

Evidence for linkage of Charcot-Marie-Tooth neuropathy (CMT1) to apolipoprotein A2 (Apo-A2).

Ionasescu V, Anderson R, Burns TL, Searby C, Ionasescu R, Ferrell R. Ionasescu V, et al. Among authors: searby c. Am J Hum Genet. 1988 Jan;42(1):74-6. Am J Hum Genet. 1988. PMID: 3122561 Free PMC article.

7

Charcot-Marie-Tooth neuropathy type 1A with both duplication and non-duplication.

Ionasescu VV, Ionasescu R, Searby C, Barker DF. Ionasescu VV, et al. Among authors: searby c. Hum Mol Genet. 1993 Apr;2(4):405-10. doi: 10.1093/hmg/2.4.405. Hum Mol Genet. 1993. PMID: 8099303

8

Charcot-Marie-Tooth neuropathy related to chromosome 1.

Ionasescu VV, Trofatter J, Haines JL, Ionasescu R, Searby C. Ionasescu VV, et al. Among authors: searby c. Am J Med Genet. 1992 Mar 1;42(5):728-32. doi: 10.1002/ajmg.1320420521. Am J Med Genet. 1992. PMID: 1632448

9

Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).

Ionasescu V, Searby C, Sheffield VC, Roklina T, Nishimura D, Ionasescu R. Ionasescu V, et al. Among authors: searby c. Hum Mol Genet. 1996 Sep;5(9):1373-5. doi: 10.1093/hmg/5.9.1373. Hum Mol Genet. 1996. PMID: 8872480

10

Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.

Slavotinek AM, Searby C, Al-Gazali L, Hennekam RC, Schrander-Stumpel C, Orcana-Losa M, Pardo-Reoyo S, Cantani A, Kumar D, Capellini Q, Neri G, Zackai E, Biesecker LG. Slavotinek AM, et al. Among authors: searby c. Hum Genet. 2002 Jun;110(6):561-7. doi: 10.1007/s00439-002-0733-3. Epub 2002 May 9. Hum Genet. 2002. PMID: 12107442

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