L van Unen
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Explore the profile of L van Unen including associated specialties, affiliations and a list of published articles.
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5
Citations
166
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Recent Articles
1.
Mol M, van Ham T, Bannink N, Bruggenwirth H, Escher J, Kros J, et al.
Eur J Hum Genet
. 2024 Oct;
32(12):1567-1573.
PMID: 39367272
Variants in EFEMP1, encoding Fibulin-3, were previously reported as a rare cause of heritable connective tissue disorder (HCTD) with recurrent hernias and joint hypermobility. We report three new cases with...
2.
Tamanini F, Kirkpatrick L, Schonkeren J, van Unen L, Bontekoe C, Bakker C, et al.
Hum Mol Genet
. 2000 Jul;
9(10):1487-93.
PMID: 10888599
Fragile X syndrome is caused by the absence of the fragile X mental-retardation protein (FMRP). FMRP and the fragile X-related proteins 1 and 2 (FXR1P and FXR2P) form a gene...
3.
Tamanini F, van Unen L, Bakker C, Sacchi N, GALJAARD H, Oostra B, et al.
Biochem J
. 1999 Oct;
343 Pt 3:517-23.
PMID: 10527928
The absence of fragile-X mental-retardation protein (FMRP) results in fragile-X syndrome. Two other fragile-X-related (FXR) proteins have been described, FXR1P and FXR2P, which are both very similar in amino acid...
4.
Tamanini F, Bontekoe C, Bakker C, van Unen L, Anar B, Willemsen R, et al.
Hum Mol Genet
. 1999 Apr;
8(5):863-9.
PMID: 10196376
Fragile X syndrome is caused by the absence of the fragile X mental retardation protein (FMRP). FMRP and its structural homologues FXR1P and FXR2P form a family of RNA-binding proteins...
5.
Tamanini F, Willemsen R, van Unen L, Bontekoe C, GALJAARD H, Oostra B, et al.
Hum Mol Genet
. 1997 Aug;
6(8):1315-22.
PMID: 9259278
Lack of expression of the fragile X mental retardation protein (FMRP) results in mental retardation and macroorchidism, seen as the major pathological symptoms in fragile X patients. FMRP is a...