Barth PG - Search Results

1

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

D'Adamo P, Fassone L, Gedeon A, Janssen EA, Bione S, Bolhuis PA, Barth PG, Wilson M, Haan E, Orstavik KH, Patton MA, Green AJ, Zammarchi E, Donati MA, Toniolo D. D'Adamo P, et al. Among authors: barth pg. Am J Hum Genet. 1997 Oct;61(4):862-7. doi: 10.1086/514886. Am J Hum Genet. 1997. PMID: 9382096 Free PMC article.

2

X chromosome inactivation in carriers of Barth syndrome.

Orstavik KH, Orstavik RE, Naumova AK, D'Adamo P, Gedeon A, Bolhuis PA, Barth PG, Toniolo D. Orstavik KH, et al. Among authors: barth pg. Am J Hum Genet. 1998 Nov;63(5):1457-63. doi: 10.1086/302095. Am J Hum Genet. 1998. PMID: 9792874 Free PMC article.

3

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.

Ligtenberg MJ, Kemp S, Sarde CO, van Geel BM, Kleijer WJ, Barth PG, Mandel JL, van Oost BA, Bolhuis PA. Ligtenberg MJ, et al. Among authors: barth pg. Am J Hum Genet. 1995 Jan;56(1):44-50. Am J Hum Genet. 1995. PMID: 7825602 Free PMC article.

4

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

Bolhuis PA, Hensels GW, Hulsebos TJ, Baas F, Barth PG. Bolhuis PA, et al. Among authors: barth pg. Am J Hum Genet. 1991 Mar;48(3):481-5. Am J Hum Genet. 1991. PMID: 1998334 Free PMC article.

5

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

Barth PG, Wanders RJ, Vreken P, Janssen EA, Lam J, Baas F. Barth PG, et al. J Inherit Metab Dis. 1999 Jun;22(4):555-67. doi: 10.1023/a:1005568609936. J Inherit Metab Dis. 1999. PMID: 10407787 Review.

6

The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28.

Janssen EA, Hensels GW, van Oost BA, Hamel BC, Kemp S, Baas F, Weber JW, Barth PG, Bolhuis PA. Janssen EA, et al. Among authors: barth pg. Neuromuscul Disord. 1994 Sep-Nov;4(5-6):455-61. doi: 10.1016/0960-8966(94)90084-1. Neuromuscul Disord. 1994. PMID: 7881289

7

Two intronic mutations in the adrenoleukodystrophy gene.

Kemp S, Ligtenberg MJ, van Geel BM, Barth PG, Sarde CO, van Oost BA, Bolhuis PA. Kemp S, et al. Among authors: barth pg. Hum Mutat. 1995;6(3):272-3. doi: 10.1002/humu.1380060316. Hum Mutat. 1995. PMID: 8535452 No abstract available.

8

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts.

Barth PG, Van den Bogert C, Bolhuis PA, Scholte HR, van Gennip AH, Schutgens RB, Ketel AG. Barth PG, et al. J Inherit Metab Dis. 1996;19(2):157-60. doi: 10.1007/BF01799418. J Inherit Metab Dis. 1996. PMID: 8739954 Free article. No abstract available.

9

Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).

Taschner PE, de Vos N, Thompson AD, Callen DF, Doggett N, Mole SE, Dooley TP, Barth PG, Breuning MH. Taschner PE, et al. Among authors: barth pg. Am J Hum Genet. 1995 Mar;56(3):663-8. Am J Hum Genet. 1995. PMID: 7887420 Free PMC article.

10

Cultured human muscle cells and respiratory chain deficiencies.

Herzberg NH, Bolhuis PA, van den Bogert C, Barth PG. Herzberg NH, et al. Among authors: barth pg. Neuromuscul Disord. 1994 Jan;4(1):3-11. doi: 10.1016/0960-8966(94)90042-6. Neuromuscul Disord. 1994. PMID: 8173349 Review.

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