Powell BR - Search Results

1

Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.

Alfardan J, Mohsen AW, Copeland S, Ellison J, Keppen-Davis L, Rohrbach M, Powell BR, Gillis J, Matern D, Kant J, Vockley J. Alfardan J, et al. Among authors: powell br. Mol Genet Metab. 2010 Aug;100(4):333-8. doi: 10.1016/j.ymgme.2010.04.014. Epub 2010 May 23. Mol Genet Metab. 2010. PMID: 20547083 Free PMC article.

2

Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.

El-Hattab AW, Li FY, Shen J, Powell BR, Bawle EV, Adams DJ, Wahl E, Kobori JA, Graham B, Scaglia F, Wong LJ. El-Hattab AW, et al. Among authors: powell br. Genet Med. 2010 Jan;12(1):19-24. doi: 10.1097/GIM.0b013e3181c5e6f7. Genet Med. 2010. PMID: 20027113 Free article.

3

Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male.

Han XD, Powell BR, Phalin JL, Chehab FF. Han XD, et al. Among authors: powell br. Am J Med Genet A. 2006 Jul 1;140(13):1463-71. doi: 10.1002/ajmg.a.31291. Am J Med Genet A. 2006. PMID: 16761284

4

The genetic basis of DOORS syndrome: an exome-sequencing study.

Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM. Campeau PM, et al. Among authors: powell br. Lancet Neurol. 2014 Jan;13(1):44-58. doi: 10.1016/S1474-4422(13)70265-5. Epub 2013 Nov 29. Lancet Neurol. 2014. PMID: 24291220 Free PMC article.

5

CDKL5 and ARX mutations in males with early-onset epilepsy.

Mirzaa GM, Paciorkowski AR, Marsh ED, Berry-Kravis EM, Medne L, Alkhateeb A, Grix A, Wirrell EC, Powell BR, Nickels KC, Burton B, Paras A, Kim K, Chung W, Dobyns WB, Das S. Mirzaa GM, et al. Among authors: powell br. Pediatr Neurol. 2013 May;48(5):367-77. doi: 10.1016/j.pediatrneurol.2012.12.030. Pediatr Neurol. 2013. PMID: 23583054 Free PMC article.

6

Clinical utility of chromosomal microarray analysis.

Ellison JW, Ravnan JB, Rosenfeld JA, Morton SA, Neill NJ, Williams MS, Lewis J, Torchia BS, Walker C, Traylor RN, Moles K, Miller E, Lantz J, Valentin C, Minier SL, Leiser K, Powell BR, Wilks TM, Shaffer LG. Ellison JW, et al. Among authors: powell br. Pediatrics. 2012 Nov;130(5):e1085-95. doi: 10.1542/peds.2012-0568. Epub 2012 Oct 15. Pediatrics. 2012. PMID: 23071206

7

Clinical diagnoses that overlap with choroideremia.

Lee TK, McTaggart KE, Sieving PA, Heckenlively JR, Levin AV, Greenberg J, Weleber RG, Tong PY, Anhalt EF, Powell BR, MacDonald IM. Lee TK, et al. Among authors: powell br. Can J Ophthalmol. 2003 Aug;38(5):364-72; quiz 372. doi: 10.1016/s0008-4182(03)80047-9. Can J Ophthalmol. 2003. PMID: 12956277

8

Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature.

Burns C, Powell BR, Hsia YE, Reinker K. Burns C, et al. Among authors: powell br. J Pediatr Orthop. 2003 Jan-Feb;23(1):88-93. J Pediatr Orthop. 2003. PMID: 12499951 Review.

9

Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.

Cohn DH, Ehtesham N, Krakow D, Unger S, Shanske A, Reinker K, Powell BR, Rimoin DL. Cohn DH, et al. Among authors: powell br. Am J Hum Genet. 2003 Feb;72(2):419-28. doi: 10.1086/346176. Epub 2002 Dec 16. Am J Hum Genet. 2003. PMID: 12491225 Free PMC article.

10

Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.

Ehtesham N, Cantor RM, King LM, Reinker K, Powell BR, Shanske A, Unger S, Rimoin DL, Cohn DH. Ehtesham N, et al. Among authors: powell br. Am J Hum Genet. 2002 Oct;71(4):947-51. doi: 10.1086/342669. Epub 2002 Aug 2. Am J Hum Genet. 2002. PMID: 12161821 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

36 results

Search Page

Filters