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Items: 1 to 20 of 137

1.

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.

Fertil Steril. 2007 Apr;87(4):976.e5-7. Epub 2007 Jan 22.

PMID:
17241629
2.

A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome.

Vesel S, Stopar-Obreza M, Trebusak-Podkrajsek K, Jazbec J, Podnar T, Battelino T.

Eur J Hum Genet. 2003 Jan;11(1):97-101.

3.

Cardiolipin metabolism and Barth Syndrome.

Hauff KD, Hatch GM.

Prog Lipid Res. 2006 Mar;45(2):91-101. Epub 2006 Jan 18. Review.

PMID:
16442164
4.

Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes.

Marziliano N, Mannarino S, Nespoli L, Diegoli M, Pasotti M, Malattia C, Grasso M, Pilotto A, Porcu E, Raisaro A, Raineri C, Dore R, Maggio PP, Brega A, Arbustini E.

Am J Med Genet A. 2007 May 1;143A(9):907-15.

PMID:
17394203
5.

A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome.

Bachou T, Giannakopoulos A, Trapali C, Vazeou A, Kattamis A.

Blood Cells Mol Dis. 2009 May-Jun;42(3):262-4. doi: 10.1016/j.bcmd.2008.11.004. Epub 2009 Mar 3.

PMID:
19261493
6.

Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome.

Spencer CT, Byrne BJ, Gewitz MH, Wechsler SB, Kao AC, Gerstenfeld EP, Merliss AD, Carboni MP, Bryant RM.

Pediatr Cardiol. 2005 Sep-Oct;26(5):632-7.

7.

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

Gonzalez IL.

Am J Med Genet A. 2005 May 1;134(4):409-14.

PMID:
15793838
8.

Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients.

McKenzie M, Lazarou M, Thorburn DR, Ryan MT.

J Mol Biol. 2006 Aug 18;361(3):462-9. Epub 2006 Jul 5.

PMID:
16857210
9.

Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.

Sakamoto O, Kitoh T, Ohura T, Ohya N, Iinuma K.

J Hum Genet. 2002;47(5):229-31.

PMID:
12032589
10.

X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene.

Brady AN, Shehata BM, Fernhoff PM.

Prenat Diagn. 2006 May;26(5):462-5.

PMID:
16548007
11.

Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.

Valianpour F, Wanders RJ, Overmars H, Vreken P, Van Gennip AH, Baas F, Plecko B, Santer R, Becker K, Barth PG.

J Pediatr. 2002 Nov;141(5):729-33.

PMID:
12410207
12.

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update.

Barth PG, Valianpour F, Bowen VM, Lam J, Duran M, Vaz FM, Wanders RJ.

Am J Med Genet A. 2004 May 1;126A(4):349-54. Review.

PMID:
15098233
13.

Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study.

Rugolotto S, Prioli MD, Toniolo D, Pellegrino P, Catuogno S, Burlina AB.

Mol Genet Metab. 2003 Dec;80(4):408-11.

PMID:
14654353
14.

Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle.

Ronvelia D, Greenwood J, Platt J, Hakim S, Zaragoza MV.

Mol Genet Metab. 2012 Nov;107(3):428-32. doi: 10.1016/j.ymgme.2012.09.013. Epub 2012 Sep 18.

15.

Complex expression pattern of the Barth syndrome gene product tafazzin in human cell lines and murine tissues.

Lu B, Kelher MR, Lee DP, Lewin TM, Coleman RA, Choy PC, Hatch GM.

Biochem Cell Biol. 2004 Oct;82(5):569-76.

PMID:
15499385
16.

Obstetric outcomes in donor oocyte pregnancies compared with advanced maternal age in in vitro fertilization pregnancies.

Krieg SA, Henne MB, Westphal LM.

Fertil Steril. 2008 Jul;90(1):65-70. Epub 2007 Aug 29.

PMID:
17727845
17.

Genetic screening of prospective oocyte donors.

Wallerstein R, Jansen V, Grifo JA, Berkeley AS, Noyes N, Licker J, Licciardi F.

Fertil Steril. 1998 Jul;70(1):52-5.

PMID:
9660420
18.

A novel intronic mutation of the TAZ ( G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon.

Sakamoto O, Ohura T, Katsushima Y, Fujiwara I, Ogawa E, Miyabayashi S, Iinuma K.

Hum Genet. 2001 Nov;109(5):559-63. Epub 2001 Oct 13.

PMID:
11735032
19.

A novel Alu-mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndrome.

Singh HR, Yang Z, Siddiqui S, Peña LS, Westerfield BH, Fan Y, Towbin JA, Vatta M.

Am J Med Genet A. 2009 May;149A(5):1082-5. doi: 10.1002/ajmg.a.32822. No abstract available.

20.

Phospholipid abnormalities in children with Barth syndrome.

Schlame M, Kelley RI, Feigenbaum A, Towbin JA, Heerdt PM, Schieble T, Wanders RJ, DiMauro S, Blanck TJ.

J Am Coll Cardiol. 2003 Dec 3;42(11):1994-9.

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