Arredondo J - Search Results

1

MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain.

Balmer D, Arredondo J, Samaco RC, LaSalle JM. Balmer D, et al. Among authors: arredondo j. Hum Genet. 2002 Jun;110(6):545-52. doi: 10.1007/s00439-002-0724-4. Epub 2002 Apr 25. Hum Genet. 2002. PMID: 12107440

2

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.

Maselli RA, Arredondo J, Cagney O, Ng JJ, Anderson JA, Williams C, Gerke BJ, Soliven B, Wollmann RL. Maselli RA, et al. Among authors: arredondo j. Hum Mol Genet. 2010 Jun 15;19(12):2370-9. doi: 10.1093/hmg/ddq110. Epub 2010 Apr 6. Hum Mol Genet. 2010. PMID: 20371544 Free PMC article.

3

LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin.

Maselli RA, Fernandez JM, Arredondo J, Navarro C, Ngo M, Beeson D, Cagney O, Williams DC, Wollmann RL, Yarov-Yarovoy V, Ferns MJ. Maselli RA, et al. Among authors: arredondo j. Hum Genet. 2012 Jul;131(7):1123-35. doi: 10.1007/s00439-011-1132-4. Epub 2011 Dec 29. Hum Genet. 2012. PMID: 22205389 Free PMC article.

4

Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome.

Maselli RA, Ng JJ, Anderson JA, Cagney O, Arredondo J, Williams C, Wessel HB, Abdel-Hamid H, Wollmann RL. Maselli RA, et al. Among authors: arredondo j. J Med Genet. 2009 Mar;46(3):203-8. doi: 10.1136/jmg.2008.063693. J Med Genet. 2009. PMID: 19251977 Free PMC article.

5

COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.

Arredondo J, Lara M, Ng F, Gochez DA, Lee DC, Logia SP, Nguyen J, Maselli RA. Arredondo J, et al. Hum Genet. 2014 May;133(5):599-616. doi: 10.1007/s00439-013-1391-3. Epub 2013 Nov 27. Hum Genet. 2014. PMID: 24281389 Free PMC article.

6

Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia.

Maselli RA, Arredondo J, Nguyen J, Lara M, Ng F, Ngo M, Pham JM, Yi Q, Stajich JM, McDonald K, Hauser MA, Wollmann RL. Maselli RA, et al. Among authors: arredondo j. Clin Genet. 2014 Feb;85(2):166-71. doi: 10.1111/cge.12118. Epub 2013 Mar 11. Clin Genet. 2014. PMID: 23488891

7

Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.

Arredondo J, Lara M, Gospe SM Jr, Mazia CG, Vaccarezza M, Garcia-Erro M, Bowe CM, Chang CH, Mezei MM, Maselli RA. Arredondo J, et al. Hum Mutat. 2015 Sep;36(9):881-93. doi: 10.1002/humu.22823. Epub 2015 Jul 24. Hum Mutat. 2015. PMID: 26080897 Free PMC article.

8

A receptor-mediated mechanism of nicotine toxicity in oral keratinocytes.

Arredondo J, Nguyen VT, Chernyavsky AI, Jolkovsky DL, Pinkerton KE, Grando SA. Arredondo J, et al. Lab Invest. 2001 Dec;81(12):1653-68. doi: 10.1038/labinvest.3780379. Lab Invest. 2001. PMID: 11742036 Free article.

9

Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE.

Maselli RA, Arredondo J, Cagney O, Mozaffar T, Skinner S, Yousif S, Davis RR, Gregg JP, Sivak M, Konia TH, Thomas K, Wollmann RL. Maselli RA, et al. Among authors: arredondo j. Clin Genet. 2011 Nov;80(5):444-51. doi: 10.1111/j.1399-0004.2010.01602.x. Epub 2010 Dec 22. Clin Genet. 2011. PMID: 21175599

10

Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.

Maselli RA, Arredondo J, Vázquez J, Chong JX; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Lara M, Ng F, Lo VL, Pytel P, McDonald CM. Maselli RA, et al. Among authors: arredondo j. Am J Med Genet A. 2017 Aug;173(8):2240-2245. doi: 10.1002/ajmg.a.38291. Epub 2017 May 25. Am J Med Genet A. 2017. PMID: 28544784 Free PMC article.

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