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Items: 1 to 20 of 100

1.

Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.

Ridout CK, Brown RM, Walter JH, Brown GK.

Hum Genet. 2008 Sep;124(2):187-93. doi: 10.1007/s00439-008-0538-0. Epub 2008 Aug 17.

PMID:
18709504
2.

Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.

Coughlin CR 2nd, Krantz ID, Schmitt ES, Zhang S, Wong LJ, Kerr DS, Ganesh J.

Mol Genet Metab. 2010 Jul;100(3):296-9. doi: 10.1016/j.ymgme.2010.04.004. Epub 2010 Apr 14.

PMID:
20462777
3.

Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype.

Okajima K, Warman ML, Byrne LC, Kerr DS.

Mol Genet Metab. 2006 Feb;87(2):162-8. Epub 2006 Jan 18.

PMID:
16412675
4.

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

Imbard A, Boutron A, Vequaud C, Zater M, de Lonlay P, de Baulny HO, Barnerias C, Miné M, Marsac C, Saudubray JM, Brivet M.

Mol Genet Metab. 2011 Dec;104(4):507-16. doi: 10.1016/j.ymgme.2011.08.008. Epub 2011 Aug 18.

PMID:
21914562
5.

Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.

Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A.

Hum Mutat. 2000;15(3):209-19. Review.

PMID:
10679936
6.

Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells.

Pinheiro A, Silva MJ, Pavlu-Pereira H, Florindo C, Barroso M, Marques B, Correia H, Oliveira A, Gaspar A, Tavares de Almeida I, Rivera I.

Gene. 2016 Oct 15;591(2):417-24. doi: 10.1016/j.gene.2016.06.041. Epub 2016 Jun 22.

PMID:
27343776
7.

Females with PDHA1 gene mutations: a diagnostic challenge.

Willemsen M, Rodenburg RJ, Teszas A, van den Heuvel L, Kosztolanyi G, Morava E.

Mitochondrion. 2006 Jun;6(3):155-9. Epub 2006 May 19.

PMID:
16713755
8.

A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1.

Brown RM, Head RA, Boubriak II, Leonard JV, Brown GK.

Hum Mutat. 2003 Dec;22(6):496-7.

PMID:
14635113
9.

A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency.

Mayr JA, Koch J, Fauth C, Zimmermann FA, Rauscher C, Zschocke J, Sperl W.

Neuropediatrics. 2012 Jun;43(3):130-4. doi: 10.1055/s-0032-1309308. Epub 2012 Apr 2.

PMID:
22473288
10.

A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.

Ridout CK, Keighley P, Krywawych S, Brown RM, Brown GK.

Hum Mutat. 2008 Mar;29(3):451. doi: 10.1002/humu.9525.

PMID:
18273899
11.

Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1α subunit gene (PDHA1).

Steller J, Gargus JJ, Gibbs LH, Hasso AN, Kimonis VE.

Neuropediatrics. 2014 Feb;45(1):56-60. doi: 10.1055/s-0033-1341601. Epub 2013 Apr 9.

12.

Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer.

Boichard A, Venet L, Naas T, Boutron A, Chevret L, de Baulny HO, De Lonlay P, Legrand A, Nordman P, Brivet M.

Mol Genet Metab. 2008 Mar;93(3):323-30. Epub 2007 Nov 26.

PMID:
18023225
13.

Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.

Ostergaard E, Moller LB, Kalkanoglu-Sivri HS, Dursun A, Kibaek M, Thelle T, Christensen E, Duno M, Wibrand F.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S235-9. doi: 10.1007/s10545-009-1179-8. Epub 2009 Jun 11.

PMID:
19517265
14.

Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.

Cameron JM, Levandovskiy V, Mackay N, Tein I, Robinson BH.

Am J Med Genet A. 2004 Nov 15;131(1):59-66.

PMID:
15384102
15.

Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.

Magner M, Vinšová K, Tesařová M, Hájková Z, Hansíková H, Wenchich L, Ješina P, Smolka V, Adam T, Vaněčková M, Zeman J, Honzík T.

Prague Med Rep. 2011;112(1):18-28.

PMID:
21470495
16.

Inactivation of the murine pyruvate dehydrogenase (Pdha1) gene and its effect on early embryonic development.

Johnson MT, Mahmood S, Hyatt SL, Yang HS, Soloway PD, Hanson RW, Patel MS.

Mol Genet Metab. 2001 Nov;74(3):293-302.

PMID:
11708858
17.
18.

Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.

Okajima K, Korotchkina LG, Prasad C, Rupar T, Phillips JA 3rd, Ficicioglu C, Hertecant J, Patel MS, Kerr DS.

Mol Genet Metab. 2008 Apr;93(4):371-80. doi: 10.1016/j.ymgme.2007.10.135. Epub 2008 Mar 4.

PMID:
18164639
19.

Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings.

Soares-Fernandes JP, Teixeira-Gomes R, Cruz R, Ribeiro M, Magalhães Z, Rocha JF, Leijser LM.

Pediatr Radiol. 2008 May;38(5):559-62. doi: 10.1007/s00247-007-0721-9. Epub 2008 Jan 16.

PMID:
18197404
20.

Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.

Lissens W, Vreken P, Barth PG, Wijburg FA, Ruitenbeek W, Wanders RJ, Seneca S, Liebaers I, De Meirleir L.

Eur J Pediatr. 1999 Oct;158(10):853-7.

PMID:
10486093

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