PMC Links for OMIM (Select 302060) - PMC - NCBI

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Items: 14

Select item 30207751.

Cardiac and Skeletal Muscle Defects in a Mouse Model of Human Barth Syndrome

Devrim Acehan, Frederic Vaz, Riekelt H. Houtkooper, Jeanne James, Vicky Moore, Chonan Tokunaga, Willem Kulik, Janaka Wansapura, Matthew J. Toth, Arnold Strauss, Zaza Khuchua

J Biol Chem. 2011 Jan 14; 286(2): 899–908. Published online 2010 Nov 9. doi: 10.1074/jbc.M110.171439

PMCID:: PMC3020775

Abstract Article PDF–5.5M

Select item 29953092.

Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth

C G Steward, R A Newbury-Ecob, R Hastings, S F Smithson, B Tsai-Goodman, O W Quarrell, W Kulik, R Wanders, M Pennock, M Williams, J L Cresswell, I L Gonzalez, P Brennan

Prenat Diagn. 2010 Oct; 30(10): 970–976. doi: 10.1002/pd.2599

PMCID:: PMC2995309

Abstract Article PDF–194K

Select item 17160303.

Mutation characterization and genotype-phenotype correlation in Barth syndrome.

J Johnston, R I Kelley, A Feigenbaum, G F Cox, G S Iyer, V L Funanage, R Proujansky

Am J Hum Genet. 1997 Nov; 61(5): 1053–1058. doi: 10.1086/301604

PMCID:: PMC1716030

Summary Page Browse PDF–1.1M

Select item 17159974.

Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.

S B Bleyl, B R Mumford, V Thompson, J C Carey, T J Pysher, T K Chin, K Ward

Am J Hum Genet. 1997 Oct; 61(4): 868–872. doi: 10.1086/514879

PMCID:: PMC1715997

Summary Page Browse PDF–1.0M

Select item 17159935.

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

P D'Adamo, L Fassone, A Gedeon, E A Janssen, S Bione, P A Bolhuis, P G Barth, M Wilson, E Haan, K H Orstavik, M A Patton, A J Green, E Zammarchi, M A Donati, D Toniolo

Am J Hum Genet. 1997 Oct; 61(4): 862–867. doi: 10.1086/514886

PMCID:: PMC1715993

Summary Page Browse PDF–1010K

Select item 16829686.

Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.

P A Bolhuis, G W Hensels, T J Hulsebos, F Baas, P G Barth

Am J Hum Genet. 1991 Mar; 48(3): 481–485.

PMCID:: PMC1682968

Summary Page Browse PDF–643K

Select item 15442137.

A Drosophila model of Barth syndrome

Yang Xu, Morgan Condell, Heide Plesken, Irit Edelman-Novemsky, Jinping Ma, Mindong Ren, Michael Schlame

Proc Natl Acad Sci U S A. 2006 Aug 1; 103(31): 11584–11588. Published online 2006 Jul 19. doi: 10.1073/pnas.0603242103

PMCID:: PMC1544213

Abstract Article PDF–1.0M

Select item 13775578.

X chromosome inactivation in carriers of Barth syndrome.

K H Orstavik, R E Orstavik, A K Naumova, P D'Adamo, A Gedeon, P A Bolhuis, P G Barth, D Toniolo

Am J Hum Genet. 1998 Nov; 63(5): 1457–1463. doi: 10.1086/302095

PMCID:: PMC1377557

Summary PDF–411K

Select item 10504359.

X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.

A K Gedeon, M J Wilson, A C Colley, D O Sillence, J C Mulley

J Med Genet. 1995 May; 32(5): 383–388. doi: 10.1136/jmg.32.5.383

PMCID:: PMC1050435

Summary Page Browse PDF–1.0M

Select item 104999710.

Endocardial fibroelastosis: possible X linked inheritance.

S Hodgson, A Child, M Dyson

J Med Genet. 1987 Apr; 24(4): 210–214. doi: 10.1136/jmg.24.4.210

PMCID:: PMC1049997

Summary Page Browse PDF–1.0M

Select item 102554511.

Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: successful treatment with pantothenic acid.

I Ostman-Smith, G Brown, A Johnson, J M Land

Br Heart J. 1994 Oct; 72(4): 349–353. doi: 10.1136/hrt.72.4.349

PMCID:: PMC1025545

Summary Page Browse PDF–1.0M

Select item 101633012.

Possible X linked congenital mitochondrial cardiomyopathy in three families.

K H Orstavik, F Skjörten, M Hellebostad, P Hågå, A Langslet

J Med Genet. 1993 Apr; 30(4): 269–272. doi: 10.1136/jmg.30.4.269

PMCID:: PMC1016330

Summary Page Browse PDF–792K

Select item 48292213.

Heredity in primary endocardial fibroelastosis.

M Westwood, R Harris, J L Burn, A J Barson

Br Heart J. 1975 Oct; 37(10): 1077–1084. doi: 10.1136/hrt.37.10.1077

PMCID:: PMC482922

Summary Page Browse PDF–2.4M

Select item 45856114.

Two cases of endocardial fibroelastosis--possible x-linked determination.

R H Lindenbaum, P S Andrews, A S Khan

Br Heart J. 1973 Jan; 35(1): 38–40. doi: 10.1136/hrt.35.1.38

PMCID:: PMC458561

Summary Page Browse PDF–384K

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