Baas F - Search Results

1

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. Among authors: baas f. J Inherit Metab Dis. 1999 Jun;22(4):555-67. doi: 10.1023/a:1005568609936. J Inherit Metab Dis. 1999. PMID: 10407787 Review.

2

Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.

Valianpour F, Wanders RJ, Overmars H, Vreken P, Van Gennip AH, Baas F, Plecko B, Santer R, Becker K, Barth PG. Valianpour F, et al. Among authors: baas f. J Pediatr. 2002 Nov;141(5):729-33. doi: 10.1067/mpd.2002.129174. J Pediatr. 2002. PMID: 12410207

3

Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis.

Kuijpers TW, Maianski NA, Tool AT, Becker K, Plecko B, Valianpour F, Wanders RJ, Pereira R, Van Hove J, Verhoeven AJ, Roos D, Baas F, Barth PG. Kuijpers TW, et al. Among authors: baas f. Blood. 2004 May 15;103(10):3915-23. doi: 10.1182/blood-2003-11-3940. Epub 2004 Feb 5. Blood. 2004. PMID: 14764526 Free 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: baas f. Am J Hum Genet. 1991 Mar;48(3):481-5. Am J Hum Genet. 1991. PMID: 1998334 Free PMC article.

5

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: baas f. Neuromuscul Disord. 1994 Sep-Nov;4(5-6):455-61. doi: 10.1016/0960-8966(94)90084-1. Neuromuscul Disord. 1994. PMID: 7881289

6

What's new in pontocerebellar hypoplasia? An update on genes and subtypes.

van Dijk T, Baas F, Barth PG, Poll-The BT. van Dijk T, et al. Among authors: baas f. Orphanet J Rare Dis. 2018 Jun 15;13(1):92. doi: 10.1186/s13023-018-0826-2. Orphanet J Rare Dis. 2018. PMID: 29903031 Free PMC article. Review.

7

Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.

Namavar Y, Barth PG, Poll-The BT, Baas F. Namavar Y, et al. Among authors: baas f. Orphanet J Rare Dis. 2011 Jul 12;6:50. doi: 10.1186/1750-1172-6-50. Orphanet J Rare Dis. 2011. PMID: 21749694 Free PMC article. Review.

8

Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.

Weterman MA, Barth PG, van Spaendonck-Zwarts KY, Aronica E, Poll-The BT, Brouwer OF, van Tintelen JP, Qahar Z, Bradley EJ, de Wissel M, Salviati L, Angelini C, van den Heuvel L, Thomasse YE, Backx AP, Nürnberg G, Nürnberg P, Baas F. Weterman MA, et al. Among authors: baas f. Brain. 2013 Jan;136(Pt 1):282-93. doi: 10.1093/brain/aws293. Brain. 2013. PMID: 23365102

9

De-novo mutation in hereditary motor and sensory neuropathy type I.

Hoogendijk JE, Hensels GW, Gabreëls-Festen AA, Gabreëls FJ, Janssen EA, de Jonghe P, Martin JJ, van Broeckhoven C, Valentijn LJ, Baas F, et al. Hoogendijk JE, et al. Among authors: baas f. Lancet. 1992 May 2;339(8801):1081-2. doi: 10.1016/0140-6736(92)90668-s. Lancet. 1992. PMID: 1349106

10

The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2.

Hoogendijk JE, Hensels GW, Zorn I, Valentijn L, Janssen EA, de Visser M, Barker DF, Ongerboer de Visser BW, Baas F, Bolhuis PA. Hoogendijk JE, et al. Among authors: baas f. Hum Genet. 1991 Dec;88(2):215-8. doi: 10.1007/BF00206075. Hum Genet. 1991. PMID: 1721895

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