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Items: 1 to 20 of 80

1.

Barth syndrome may be due to an acyltransferase deficiency.

Neuwald AF.

Curr Biol. 1997 Aug 1;7(8):R465-6. No abstract available.

2.

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060.

Barth PG, Wanders RJ, Vreken P.

J Pediatr. 1999 Sep;135(3):273-6. Review. No abstract available.

PMID:
10484787
3.

A novel X-linked gene, G4.5. is responsible for Barth syndrome.

Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D.

Nat Genet. 1996 Apr;12(4):385-9.

PMID:
8630491
4.

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.

5.
6.

Mitochondrial cardiomyopathy.

Ozawa T.

Herz. 1994 Apr;19(2):105-18, 125. Review.

PMID:
8194831
7.

Mitochondria and dystonia: the movement disorder connection?

Wallace DC, Murdock DG.

Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):1817-9. No abstract available.

8.

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
9.

Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.

Cantlay AM, Shokrollahi K, Allen JT, Lunt PW, Newbury-Ecob RA, Steward CG.

J Pediatr. 1999 Sep;135(3):311-5. Erratum in: J Pediatr 2000 Jun;136(1):136.

PMID:
10484795
10.

[Diversified diagnostic criteria in cardiomyopathies].

Piazza V, Picchio E, Zachara E, Zanchi E, Pulcini M, Koleva M, Pompili A.

G Ital Cardiol. 1999 Oct;29(10):1171-6. Italian. No abstract available.

PMID:
10546128
11.

Barth syndrome: clinical observations and genetic linkage studies.

Christodoulou J, McInnes RR, Jay V, Wilson G, Becker LE, Lehotay DC, Platt BA, Bridge PJ, Robinson BH, Clarke JT.

Am J Med Genet. 1994 Apr 15;50(3):255-64.

PMID:
8042670
12.

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.

Piekutowska-Abramczuk D, Olsen RK, Wierzba J, Popowska E, Jurkiewicz D, Ciara E, Ołtarzewski M, Gradowska W, Sykut-Cegielska J, Krajewska-Walasek M, Andresen BS, Gregersen N, Pronicka E.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S373-7. doi: 10.1007/s10545-010-9190-7. Epub 2010 Sep 3.

PMID:
20814823
13.

[Diagnosis of mitochondrial cardiomyopathies: the need for a multidisciplinary approach].

Santorelli FM, Bertini E.

G Ital Cardiol. 1999 Oct;29(10):1181-3. Italian. No abstract available.

PMID:
10546130
14.

Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism.

Vaz FM, Houtkooper RH, Valianpour F, Barth PG, Wanders RJ.

J Biol Chem. 2003 Oct 31;278(44):43089-94. Epub 2003 Aug 20. Erratum in: J Biol Chem. 2004 Jun 18;279(25):26802.

15.

Genetics of LCAT (lecithin: cholesterol acyltransferase) deficiency.

Teisberg P, Gjone E, Olaisen B.

Ann Hum Genet. 1975 Jan;38(3):327-31.

PMID:
806250
16.

[Mitochondrial cardiomyopathies: a new entity in cardiology research and diagnosis].

Bernucci P, D'Amati G, Casali C, De Biase L, Autore C, Fedele F, Gallo P.

G Ital Cardiol. 1996 Sep;26(9):1031-7. Review. Italian. No abstract available.

PMID:
9036041
17.

Leber hereditary optic neuropathy (LHON): a mitochondrial disease with unresolved complexities.

Went LN.

Cytogenet Cell Genet. 1999;86(2):153-6. Review. No abstract available.

PMID:
10545708
18.

Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy.

Musumeci O, Andreu AL, Shanske S, Bresolin N, Comi GP, Rothstein R, Schon EA, DiMauro S.

Am J Hum Genet. 2000 Jun;66(6):1900-4. Epub 2000 Apr 17.

19.

Little known killer: Barth syndrome.

Bateman C.

S Afr Med J. 2003 Apr;93(4):249-50. No abstract available.

PMID:
12806708
20.

Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.

Adès LC, Gedeon AK, Wilson MJ, Latham M, Partington MW, Mulley JC, Nelson J, Lui K, Sillence DO.

Am J Med Genet. 1993 Feb 1;45(3):327-34.

PMID:
8434619

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