Gonzalez IL - Search Results

1

Tafazzin splice variants and mutations in Barth syndrome.

Kirwin SM, Manolakos A, Barnett SS, Gonzalez IL. Kirwin SM, et al. Among authors: gonzalez il. Mol Genet Metab. 2014 Jan;111(1):26-32. doi: 10.1016/j.ymgme.2013.11.006. Epub 2013 Nov 19. Mol Genet Metab. 2014. PMID: 24342716

2

Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation.

Kirwin SM, Vinette KM, Schwartz SB, Funanage VL, Gonzalez IL. Kirwin SM, et al. Among authors: gonzalez il. Fertil Steril. 2007 Apr;87(4):976.e5-7. doi: 10.1016/j.fertnstert.2006.07.1543. Epub 2007 Jan 22. Fertil Steril. 2007. PMID: 17241629 Free article.

3

A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.

Kirwin SM, Vinette KM, Gonzalez IL, Abdulwahed HA, Al-Sannaa N, Funanage VL. Kirwin SM, et al. Among authors: gonzalez il. Mol Genet Genomic Med. 2013 Jul;1(2):113-7. doi: 10.1002/mgg3.10. Epub 2013 May 30. Mol Genet Genomic Med. 2013. PMID: 24498607 Free PMC article.

4

Barth syndrome: TAZ gene mutations, mRNAs, and evolution.

Gonzalez IL. Gonzalez IL. Am J Med Genet A. 2005 May 1;134(4):409-14. doi: 10.1002/ajmg.a.30661. Am J Med Genet A. 2005. PMID: 15793838

5

Barth syndrome.

Clarke SL, Bowron A, Gonzalez IL, Groves SJ, Newbury-Ecob R, Clayton N, Martin RP, Tsai-Goodman B, Garratt V, Ashworth M, Bowen VM, McCurdy KR, Damin MK, Spencer CT, Toth MJ, Kelley RI, Steward CG. Clarke SL, et al. Among authors: gonzalez il. Orphanet J Rare Dis. 2013 Feb 12;8:23. doi: 10.1186/1750-1172-8-23. Orphanet J Rare Dis. 2013. PMID: 23398819 Free PMC article. Review.

6

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

Gripp KW, Lin AE, Stabley DL, Nicholson L, Scott CI Jr, Doyle D, Aoki Y, Matsubara Y, Zackai EH, Lapunzina P, Gonzalez-Meneses A, Holbrook J, Agresta CA, Gonzalez IL, Sol-Church K. Gripp KW, et al. Among authors: gonzalez meneses a, gonzalez il. Am J Med Genet A. 2006 Jan 1;140(1):1-7. doi: 10.1002/ajmg.a.31047. Am J Med Genet A. 2006. PMID: 16329078

7

Paternal bias in parental origin of HRAS mutations in Costello syndrome.

Sol-Church K, Stabley DL, Nicholson L, Gonzalez IL, Gripp KW. Sol-Church K, et al. Among authors: gonzalez il. Hum Mutat. 2006 Aug;27(8):736-41. doi: 10.1002/humu.20381. Hum Mutat. 2006. PMID: 16835863

8

Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.

Doyle DA, Gonzalez I, Thomas B, Scavina M. Doyle DA, et al. J Pediatr. 2004 Aug;145(2):190-3. doi: 10.1016/j.jpeds.2004.04.011. J Pediatr. 2004. PMID: 15289765

9

A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome.

Fan Y, Steller J, Gonzalez IL, Kulik W, Fox M, Chang R, Westerfield BA, Batra AS, Wang RY, Gallant NM, Pena LS, Wang H, Huang T, Bhuta S, Penny DJ, McCabe ER, Kimonis VE. Fan Y, et al. Among authors: gonzalez il. JIMD Rep. 2013;11:99-106. doi: 10.1007/8904_2013_228. Epub 2013 Apr 19. JIMD Rep. 2013. PMID: 23606313 Free PMC article.

10

Barth syndrome without 3-methylglutaconic aciduria.

Schmidt MR, Birkebaek N, Gonzalez I, Sunde L. Schmidt MR, et al. Acta Paediatr. 2004 Mar;93(3):419-21. doi: 10.1080/08035250410022837. Acta Paediatr. 2004. PMID: 15124852

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