Rizzo WB - Search Results

1

Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.

Aldahmesh MA, Mohamed JY, Alkuraya HS, Verma IC, Puri RD, Alaiya AA, Rizzo WB, Alkuraya FS. Aldahmesh MA, et al. Among authors: rizzo wb. Am J Hum Genet. 2011 Dec 9;89(6):745-50. doi: 10.1016/j.ajhg.2011.10.011. Epub 2011 Nov 17. Am J Hum Genet. 2011. PMID: 22100072 Free PMC article.

2

Genotype and phenotype variability in Sjögren-Larsson syndrome.

Weustenfeld M, Eidelpes R, Schmuth M, Rizzo WB, Zschocke J, Keller MA. Weustenfeld M, et al. Among authors: rizzo wb. Hum Mutat. 2019 Feb;40(2):177-186. doi: 10.1002/humu.23679. Epub 2018 Nov 26. Hum Mutat. 2019. PMID: 30372562 Free PMC article.

3

Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.

Rush ET, Baker CV, Rizzo WB. Rush ET, et al. Among authors: rizzo wb. Am J Med Genet A. 2017 Sep;173(9):2428-2434. doi: 10.1002/ajmg.a.38287. Am J Med Genet A. 2017. PMID: 28816422

4

Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran.

Kariminejad A, Barzgar M, Bozorgmehr B, Keshavarz E, Kariminejad MH, S'Aulis D, Rizzo WB. Kariminejad A, et al. Among authors: rizzo wb. Eur J Med Genet. 2018 Mar;61(3):139-144. doi: 10.1016/j.ejmg.2017.11.006. Epub 2017 Nov 26. Eur J Med Genet. 2018. PMID: 29183715

5

Recognition and diagnosis of neuro-ichthyotic syndromes.

Rizzo WB, Jenkens SM, Boucher P. Rizzo WB, et al. Semin Neurol. 2012 Feb;32(1):75-84. doi: 10.1055/s-0032-1306390. Epub 2012 Mar 15. Semin Neurol. 2012. PMID: 22422210 Free PMC article. Review.

6

1-O-Alkylglycerol accumulation reveals abnormal ether glycerolipid metabolism in Sjögren-Larsson syndrome.

S'aulis D, Khoury EA, Zabel M, Rizzo WB. S'aulis D, et al. Among authors: rizzo wb. Mol Genet Metab. 2020 Sep-Oct;131(1-2):253-258. doi: 10.1016/j.ymgme.2020.08.002. Epub 2020 Aug 12. Mol Genet Metab. 2020. PMID: 32800643 Free PMC article.

7

Complications of ichthyosis beyond the skin.

Diaz LZ, Browning JC, Smidt AC, Rizzo WB, Levy ML. Diaz LZ, et al. Among authors: rizzo wb. Dermatol Ther. 2013 Jan-Feb;26(1):39-45. doi: 10.1111/j.1529-8019.2012.01517.x. Dermatol Ther. 2013. PMID: 23384019 Review.

8

Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson syndrome patients.

Rajeshwari M, Karthi S, Singh R, Efthymiou S, Gowda VK, Varalakshmi P, Srinivasan VM, Houlden H, Keller MA, Rizzo WB, Ashokkumar B. Rajeshwari M, et al. Among authors: rizzo wb. Hum Mutat. 2021 Aug;42(8):1015-1029. doi: 10.1002/humu.24236. Epub 2021 Jun 15. Hum Mutat. 2021. PMID: 34082469

9

Large contiguous gene deletions in Sjögren-Larsson syndrome.

Engelstad H, Carney G, S'aulis D, Rise J, Sanger WG, Rudd MK, Richard G, Carr CW, Abdul-Rahman OA, Rizzo WB. Engelstad H, et al. Among authors: rizzo wb. Mol Genet Metab. 2011 Nov;104(3):356-61. doi: 10.1016/j.ymgme.2011.05.015. Epub 2011 May 30. Mol Genet Metab. 2011. PMID: 21684788 Free PMC article.

10

Low bone mineral density is a common feature of Zellweger spectrum disorders.

Rush ET, Goodwin JL, Braverman NE, Rizzo WB. Rush ET, et al. Among authors: rizzo wb. Mol Genet Metab. 2016 Jan;117(1):33-7. doi: 10.1016/j.ymgme.2015.11.009. Epub 2015 Nov 24. Mol Genet Metab. 2016. PMID: 26643206

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