Rizzo WB - Search Results

1

Phenotypic variability among adult siblings with Sjögren-Larsson syndrome.

Lossos A, Khoury M, Rizzo WB, Gomori JM, Banin E, Zlotogorski A, Jaber S, Abramsky O, Argov Z, Rosenmann H. Lossos A, et al. Among authors: rizzo wb. Arch Neurol. 2006 Feb;63(2):278-80. doi: 10.1001/archneur.63.2.278. Arch Neurol. 2006. PMID: 16476818 Free PMC article.

2

Attitudes toward presymptomatic testing and prenatal diagnosis for adrenoleukodystrophy among affected families.

Costakos D, Abramson RK, Edwards JG, Rizzo WB, Best RG. Costakos D, et al. Among authors: rizzo wb. Am J Med Genet. 1991 Dec 1;41(3):295-300. doi: 10.1002/ajmg.1320410307. Am J Med Genet. 1991. PMID: 1789282

3

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.

Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, Lampe C, Malm G, Steiner RD, Parini R; Hunter Outcome Survey Investigators. Mendelsohn NJ, et al. Genet Med. 2010 Dec;12(12):816-22. doi: 10.1097/GIM.0b013e3181f6e74d. Genet Med. 2010. PMID: 21045710 Free article.

4

Sjögren-Larsson syndrome: explaining the skin-brain connection.

Rizzo WB. Rizzo WB. Neurology. 1999 Apr 22;52(7):1307-8. doi: 10.1212/wnl.52.7.1307. Neurology. 1999. PMID: 10227610 No abstract available.

5

[Sjögren-Larsson syndrome].

Möhrenschlager M, Rizzo WB, Kraus CS, Limbrock J, Cohen M, Anton-Lamprecht I, Abeck D, Ring J. Möhrenschlager M, et al. Among authors: rizzo wb. Hautarzt. 2000 Apr;51(4):250-5. doi: 10.1007/s001050051113. Hautarzt. 2000. PMID: 10810660 German.

6

Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.

Rizzo WB. Rizzo WB. Mol Genet Metab. 2007 Jan;90(1):1-9. doi: 10.1016/j.ymgme.2006.08.006. Epub 2006 Sep 22. Mol Genet Metab. 2007. PMID: 16996289 Free PMC article. Review.

7

Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion.

Rizzo WB, S'Aulis D, Jennings MA, Crumrine DA, Williams ML, Elias PM. Rizzo WB, et al. Arch Dermatol Res. 2010 Aug;302(6):443-51. doi: 10.1007/s00403-009-1022-y. Epub 2010 Jan 5. Arch Dermatol Res. 2010. PMID: 20049467 Free PMC article.

8

Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.

Davis K, Holden KR, S'Aulis D, Amador C, Matheus MG, Rizzo WB. Davis K, et al. Among authors: rizzo wb. J Child Neurol. 2013 Oct;28(10):1259-65. doi: 10.1177/0883073812460581. Epub 2012 Oct 3. J Child Neurol. 2013. PMID: 23034980 Free PMC article.

9

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.

10

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

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