P
Pieter A. Bolhuis
Researcher at University of Amsterdam
Publications - 91
Citations - 6099
Pieter A. Bolhuis is an academic researcher from University of Amsterdam. The author has contributed to research in topics: Gene & Point mutation. The author has an hindex of 38, co-authored 91 publications receiving 5943 citations. Previous affiliations of Pieter A. Bolhuis include Boston Children's Hospital.
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Journal ArticleDOI
A novel X-linked gene, G4.5. is responsible for Barth syndrome
Silvia Bione,Patrizia D'Adamo,Elena Maestrini,Agi K. Gedeon,Pieter A. Bolhuis,Daniela Toniolo +5 more
TL;DR: The results suggest that G4.5 is the genetic locus responsible for the Barth syndrome, and introduces stop codons in the open reading frame interrupting translation of most of the putative proteins.
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Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
Antoine Muchir,Gisèle Bonne,van der Kooi Aj,van Meegen M,Frank Baas,Pieter A. Bolhuis,de Visser M,Ketty Schwartz +7 more
TL;DR: It is demonstrated that LGMD1B and AD-EDMD are allelic disorders and further analysis of phenotype-genotype relationship will help to clarify the variability of the phenotype observed in these two muscular dystrophies.
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Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.
Linda J. Valentijn,Frank Baas,R. A. Wolterman,Jessica E. Hoogendijk,N H van den Bosch,I. Zorn,A W Gabreëls-Festen,M. de Visser,Pieter A. Bolhuis +8 more
TL;DR: A point mutation in PMP–22 was found which was completely linked with the Charcot–Marie–Tooth disease type 1A, suggesting that both structural alteration and overexpression of PMP-22 may lead to the disease.
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The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.
Linda J. Valentijn,Pieter A. Bolhuis,I. Zorn,Jessica E. Hoogendijk,N H van den Bosch,G. W. Hensels,Vincent P. Stanton,David E. Housman,Kenneth H. Fischbeck,D. A. Ross,Garth A. Nicholson,E. J. Meershoek,Hans G. Dauwerse,G.J.B. van Ommen,Frank Baas +14 more
TL;DR: In this paper, the human homologue of the murine pmp-22 gene is located within the CMT1A DNA duplication, which is a direct repeat and does not interrupt the coding region of PMP-22.
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Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures
G.J. Jöbsis,H Keizers,Jeroen P. Vreijling,M. de Visser,Marcy C. Speer,R. A. Wolterman,Frank Baas,Pieter A. Bolhuis +7 more
TL;DR: Similar to the putative perturbation of the anchoring function of the dystrophin-associated complex in congenital muscular dystrophy with mutations in the α2-subunit of laminin, the observations suggest a similar mechanism in Bethlem myopathy.