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

Por Bolhuis, P A, Hensels, G W, Hulsebos, T J, Baas, F, Barth, P G
Publicado em 1991

XmnI RFLP at 5q13 detected by a 0.49 kb Xmn I fragment of human hexosaminidase (HEXB) cDNA.

Por Bikker, H, Meyer, M F, Merk, A C, de Vijlder, J J, Bolhuis, P A
Publicado em 1988

Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.

Por Oostra, R J, Bolhuis, P A, Wijburg, F A, Zorn-Ende, G, Bleeker-Wagemakers, E M
Publicado em 1994

Immunocytochemical localization of fibrinogen, platelet factor 4, and beta thromboglobulin in thin frozen sections of human blood platelets.

Por Sander, H J, Slot, J W, Bouma, B N, Bolhuis, P A, Pepper, D S, Sixma, J J
Publicado em 1983

Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.

Por van der Kooi, A J, van Meegen, M, Ledderhof, T M, McNally, E M, de Visser, M, Bolhuis, P A
Publicado em 1997

Brain gangliosides in the presenile dementia of Pick.

Por Kamp, P E, den Hartog Jager, W A, Maathuis, J, de Groot, P A, de Jong, J M, Bolhuis, P A
Publicado em 1986

X chromosome inactivation in carriers of Barth syndrome.

Por Orstavik, K H, Orstavik, R E, Naumova, A K, D'Adamo, P, Gedeon, A, Bolhuis, P A, Barth, P G, Toniolo, D
Publicado em 1998

Simultaneous occurrence of the 11778 (ND4) and the 9438 (COX III) mtDNA mutations in Leber hereditary optic neuropathy: molecular, biochemical, and clinical findings.

Por Oostra, R J, Van den Bogert, C, Nijtmans, L G, van Galen, M J, Zwart, R, Bolhuis, P A, Bleeker-Wagemakers, E M
Publicado em 1995

Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.

Por Mackey, D. A., Oostra, R. J., Rosenberg, T., Nikoskelainen, E., Bronte-Stewart, J., Poulton, J., Harding, A. E., Govan, G., Bolhuis, P. A., Norby, S.
Publicado em 1996

Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.

Por De Vries, D. D., Went, L. N., Bruyn, G. W., Scholte, H. R., Hofstra, R. M., Bolhuis, P. A., van Oost, B. A.
Publicado em 1996

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.

Por Ligtenberg, M J, Kemp, S, Sarde, C O, van Geel, B M, Kleijer, W J, Barth, P G, Mandel, J L, van Oost, B A, Bolhuis, P A
Publicado em 1995

Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1.

Por Jöbsis, G J, Weber, J W, Barth, P G, Keizers, H, Baas, F, van Schooneveld, M J, van Hilten, J J, Troost, D, Geesink, H H, Bolhuis, P A
Publicado em 1997

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

Por D'Adamo, P, Fassone, L, Gedeon, A, Janssen, E A, Bione, S, Bolhuis, P A, Barth, P G, Wilson, M, Haan, E, Orstavik, K H, Patton, M A, Green, A J, Zammarchi, E, Donati, M A, Toniolo, D
Publicado em 1997