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Items: 1 to 20 of 137

1.

New clinical and molecular insights on Barth syndrome.

Ferri L, Donati MA, Funghini S, Malvagia S, Catarzi S, Lugli L, Ragni L, Bertini E, Vaz FM, Cooper DN, Guerrini R, Morrone A.

Orphanet J Rare Dis. 2013 Feb 14;8:27. doi: 10.1186/1750-1172-8-27.

2.

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.

3.

Novel mutations in the TAZ gene in patients with Barth syndrome.

Mazurová S, Tesařová M, Magner M, Houšťková H, Hansíková H, Augustínová J, Tomek V, Vondráčková A, Zeman J, Honzík T.

Prague Med Rep. 2013;114(3):139-53.

PMID:
24093814
4.

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.

Ferri L, Donati MA, Funghini S, Cavicchi C, Pensato V, Gellera C, Natacci F, Spaccini L, Gasperini S, Vaz FM, Cooper DN, Guerrini R, Morrone A.

Eur J Hum Genet. 2015 Dec;23(12):1708-12. doi: 10.1038/ejhg.2015.50. Epub 2015 Mar 18.

PMID:
25782672
5.

A novel TAZ gene mutation and mosaicism in a Polish family with Barth syndrome.

Zapała B, Płatek T, Wybrańska I.

Ann Hum Genet. 2015 May;79(3):218-24. doi: 10.1111/ahg.12108. Epub 2015 Mar 16.

6.

A novel mutation of the TAZ gene in Barth syndrome: acute exacerbation after contrast-dye injection.

Kim GB, Kwon BS, Bae EJ, Noh CI, Seong MW, Park SS.

J Korean Med Sci. 2013 May;28(5):784-7. doi: 10.3346/jkms.2013.28.5.784. Epub 2013 May 2.

7.

Barth syndrome in a female patient.

Cosson L, Toutain A, Simard G, Kulik W, Matyas G, Guichet A, Blasco H, Maakaroun-Vermesse Z, Vaillant MC, Le Caignec C, Chantepie A, Labarthe F.

Mol Genet Metab. 2012 May;106(1):115-20. doi: 10.1016/j.ymgme.2012.01.015. Epub 2012 Jan 24.

PMID:
22410210
8.

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.

JIMD Rep. 2013;11:99-106. doi: 10.1007/8904_2013_228. Epub 2013 Apr 19.

9.

Mutation characterization and genotype-phenotype correlation in Barth syndrome.

Johnston J, Kelley RI, Feigenbaum A, Cox GF, Iyer GS, Funanage VL, Proujansky R.

Am J Hum Genet. 1997 Nov;61(5):1053-8.

10.

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.

Orphanet J Rare Dis. 2013 Feb 12;8:23. doi: 10.1186/1750-1172-8-23. Review.

11.

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
12.

When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription.

Ferri L, Dionisi-Vici C, Taurisano R, Vaz FM, Guerrini R, Morrone A.

Clin Genet. 2016 Feb 8. doi: 10.1111/cge.12756. [Epub ahead of print]

PMID:
26853223
13.

Differing clinical courses and outcomes in two siblings with Barth syndrome and left ventricular noncompaction.

Momoi N, Chang B, Takeda I, Aoyagi Y, Endo K, Ichida F.

Eur J Pediatr. 2012 Mar;171(3):515-20. doi: 10.1007/s00431-011-1597-0. Epub 2011 Oct 7.

PMID:
21987083
14.

Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype.

Bowron A, Honeychurch J, Williams M, Tsai-Goodman B, Clayton N, Jones L, Shortland GJ, Qureshi SA, Heales SJ, Steward CG.

J Inherit Metab Dis. 2015 Mar;38(2):279-86. doi: 10.1007/s10545-014-9747-y. Epub 2014 Aug 12. Erratum in: J Inherit Metab Dis. 2016 Jan;39(1):151.

15.

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
16.

Barth syndrome: an X-linked cardiomyopathy with a novel mutation.

Aljishi E, Ali F.

Indian J Pediatr. 2010 Dec;77(12):1432-3. doi: 10.1007/s12098-010-0222-y. Epub 2010 Oct 28.

PMID:
20981509
17.

Barth syndrome: cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation.

Gonzalvez F, D'Aurelio M, Boutant M, Moustapha A, Puech JP, Landes T, Arnauné-Pelloquin L, Vial G, Taleux N, Slomianny C, Wanders RJ, Houtkooper RH, Bellenguer P, Møller IM, Gottlieb E, Vaz FM, Manfredi G, Petit PX.

Biochim Biophys Acta. 2013 Aug;1832(8):1194-206. doi: 10.1016/j.bbadis.2013.03.005. Epub 2013 Mar 20.

18.

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
19.

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.

20.

Cardiomyopathy of unknown etiology: Barth syndrome unrecognized.

Sweeney RT, Davis GJ, Noonan JA.

Congenit Heart Dis. 2008 Nov-Dec;3(6):443-8. doi: 10.1111/j.1747-0803.2008.00226.x.

PMID:
19037987
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