Ross BM - Search Results

1

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: ross bm. Hum Mol Genet. 1997 Feb;6(2):229-36. doi: 10.1093/hmg/6.2.229. Hum Mol Genet. 1997. PMID: 9063743

2

Refinement of the spinal muscular atrophy locus by genetic and physical mapping.

Wang CH, Kleyn PW, Vitale E, Ross BM, Lien L, Xu J, Carter TA, Brzustowicz LM, Obici S, Selig S, et al. Wang CH, et al. Among authors: ross bm. Am J Hum Genet. 1995 Jan;56(1):202-9. Am J Hum Genet. 1995. PMID: 7825579 Free PMC article.

3

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: ross bm. Hum Mol Genet. 1996 Mar;5(3):359-65. doi: 10.1093/hmg/5.3.359. Hum Mol Genet. 1996. PMID: 8852661

4

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: ross bm. Ann Neurol. 1997 Jul;42(1):41-9. doi: 10.1002/ana.410420109. Ann Neurol. 1997. PMID: 9225684

5

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: ross bm. Am J Hum Genet. 1997 Aug;61(2):317-28. doi: 10.1086/514864. Am J Hum Genet. 1997. PMID: 9311736 Free PMC article.

6

High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p.

Ranta S, Lehesjoki AE, de Fatima Bonaldo M, Knowles JA, Hirvasniemi A, Ross B, de Jong PJ, Soares MB, de la Chapelle A, Gilliam TC. Ranta S, et al. Genome Res. 1997 Sep;7(9):887-96. doi: 10.1101/gr.7.9.887. Genome Res. 1997. PMID: 9314494 Free article.

7

Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation.

Ranta S, Zhang Y, Ross B, Takkunen E, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE. Ranta S, et al. Eur J Hum Genet. 2000 May;8(5):381-4. doi: 10.1038/sj.ejhg.5200440. Eur J Hum Genet. 2000. PMID: 10854099

8

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: ross bm. Nat Genet. 1998 Feb;18(2):177-9. doi: 10.1038/ng0298-177. Nat Genet. 1998. PMID: 9462751

9

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: ross bm. Genomics. 1998 Mar 1;48(2):171-7. doi: 10.1006/geno.1997.5174. Genomics. 1998. PMID: 9521870 Free article.

10

Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation.

Buiakova OI, Xu J, Lutsenko S, Zeitlin S, Das K, Das S, Ross BM, Mekios C, Scheinberg IH, Gilliam TC. Buiakova OI, et al. Among authors: ross bm. Hum Mol Genet. 1999 Sep;8(9):1665-71. doi: 10.1093/hmg/8.9.1665. Hum Mol Genet. 1999. PMID: 10441329

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