Gilliam TC - Search Results

1

Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.

Kalachikov S, Evgrafov O, Ross B, Winawer M, Barker-Cummings C, Martinelli Boneschi F, Choi C, Morozov P, Das K, Teplitskaya E, Yu A, Cayanis E, Penchaszadeh G, Kottmann AH, Pedley TA, Hauser WA, Ottman R, Gilliam TC. Kalachikov S, et al. Among authors: gilliam tc. Nat Genet. 2002 Mar;30(3):335-41. doi: 10.1038/ng832. Epub 2002 Jan 28. Nat Genet. 2002. PMID: 11810107 Free PMC article.

2

Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24.

Winawer MR, Martinelli Boneschi F, Barker-Cummings C, Lee JH, Liu J, Mekios C, Gilliam TC, Pedley TA, Hauser WA, Ottman R. Winawer MR, et al. Among authors: gilliam tc. Epilepsia. 2002 Jan;43(1):60-7. doi: 10.1046/j.1528-1157.2002.45001.x. Epilepsia. 2002. PMID: 11879388 Free PMC article.

3

LGI1 mutations in autosomal dominant partial epilepsy with auditory features.

Ottman R, Winawer MR, Kalachikov S, Barker-Cummings C, Gilliam TC, Pedley TA, Hauser WA. Ottman R, et al. Among authors: gilliam tc. Neurology. 2004 Apr 13;62(7):1120-6. doi: 10.1212/01.wnl.0000120098.39231.6e. Neurology. 2004. PMID: 15079011 Free PMC article.

4

TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.

Banerjee P, Kleyn PW, Knowles JA, Lewis CA, Ross BM, Parano E, Kovats SG, Lee JJ, Penchaszadeh GK, Ott J, Jacobson SG, Gilliam TC. Banerjee P, et al. Among authors: gilliam tc. Nat Genet. 1998 Feb;18(2):177-9. doi: 10.1038/ng0298-177. Nat Genet. 1998. PMID: 9462751

5

Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy.

Wang CH, Xu J, Carter TA, Ross BM, Dominski MK, Bellcross CA, Penchaszadeh GK, Munsat TL, Gilliam TC. Wang CH, et al. Among authors: gilliam tc. Hum Mol Genet. 1996 Mar;5(3):359-65. doi: 10.1093/hmg/5.3.359. Hum Mol Genet. 1996. PMID: 8852661

6

A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions.

Carter TA, Bönnemann CG, Wang CH, Obici S, Parano E, De Fatima Bonaldo M, Ross BM, Penchaszadeh GK, Mackenzie A, Soares MB, Kunkel LM, Gilliam TC. Carter TA, et al. Among authors: gilliam tc. Hum Mol Genet. 1997 Feb;6(2):229-36. doi: 10.1093/hmg/6.2.229. Hum Mol Genet. 1997. PMID: 9063743

7

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.

Shah AB, Chernov I, Zhang HT, Ross BM, Das K, Lutsenko S, Parano E, Pavone L, Evgrafov O, Ivanova-Smolenskaya IA, Annerén G, Westermark K, Urrutia FH, Penchaszadeh GK, Sternlieb I, Scheinberg IH, Gilliam TC, Petrukhin K. Shah AB, et al. Among authors: gilliam tc. Am J Hum Genet. 1997 Aug;61(2):317-28. doi: 10.1086/514864. Am J Hum Genet. 1997. PMID: 9311736 Free PMC article.

8

Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3.

Banerjee P, Lewis CA, Kleyn PW, Shugart YY, Ross BM, Penchaszadeh GK, Ott J, Jacobson SG, Gilliam TC, Knowles JA. Banerjee P, et al. Among authors: gilliam tc. Genomics. 1998 Mar 1;48(2):171-7. doi: 10.1006/geno.1997.5174. Genomics. 1998. PMID: 9521870 Free article.

9

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy.

Gilliam TC, Brzustowicz LM, Castilla LH, Lehner T, Penchaszadeh GK, Daniels RJ, Byth BC, Knowles J, Hislop JE, Shapira Y, et al. Gilliam TC, et al. Nature. 1990 Jun 28;345(6278):823-5. doi: 10.1038/345823a0. Nature. 1990. PMID: 1972783

10

Extensive DNA deletion associated with severe disease alleles on spinal muscular atrophy homologues.

Wang CH, Carter TA, Das K, Xu J, Ross BM, Penchaszadeh GK, Gilliam TC. Wang CH, et al. Among authors: gilliam tc. Ann Neurol. 1997 Jul;42(1):41-9. doi: 10.1002/ana.410420109. Ann Neurol. 1997. PMID: 9225684

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