Halley DJ - Search Results

1

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

Valstar MJ, Neijs S, Bruggenwirth HT, Olmer R, Ruijter GJ, Wevers RA, van Diggelen OP, Poorthuis BJ, Halley DJ, Wijburg FA. Valstar MJ, et al. Among authors: halley dj. Ann Neurol. 2010 Dec;68(6):876-87. doi: 10.1002/ana.22092. Ann Neurol. 2010. PMID: 21061399

2

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.

Valstar MJ, Bruggenwirth HT, Olmer R, Wevers RA, Verheijen FW, Poorthuis BJ, Halley DJ, Wijburg FA. Valstar MJ, et al. Among authors: halley dj. J Inherit Metab Dis. 2010 Dec;33(6):759-67. doi: 10.1007/s10545-010-9199-y. Epub 2010 Sep 18. J Inherit Metab Dis. 2010. PMID: 20852935 Free PMC article.

3

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.

Brands MM, Hoogeveen-Westerveld M, Kroos MA, Nobel W, Ruijter GJ, Özkan L, Plug I, Grinberg D, Vilageliu L, Halley DJ, van der Ploeg AT, Reuser AJ. Brands MM, et al. Among authors: halley dj. Orphanet J Rare Dis. 2013 Apr 4;8:51. doi: 10.1186/1750-1172-8-51. Orphanet J Rare Dis. 2013. PMID: 23557332 Free PMC article.

4

[From gene to disease; Krabbe disease and galactosylceramidase deficiency].

Kleijer WJ, van Diggelen OP, Halley DJ, van der Ploeg AT, Mancini GM. Kleijer WJ, et al. Among authors: halley dj. Ned Tijdschr Geneeskd. 2004 Apr 24;148(17):826-8. Ned Tijdschr Geneeskd. 2004. PMID: 15141649 Dutch.

5

Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin.

Kleijer WJ, Keulemans JL, van der Kraan M, Geilen GG, van der Helm RM, Rafi MA, Luzi P, Wenger DA, Halley DJ, van Diggelen OP. Kleijer WJ, et al. Among authors: halley dj. J Inherit Metab Dis. 1997 Aug;20(4):587-94. doi: 10.1023/a:1005315311165. J Inherit Metab Dis. 1997. PMID: 9266397

6

Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations.

Jansen FE, Braams O, Vincken KL, Algra A, Anbeek P, Jennekens-Schinkel A, Halley D, Zonnenberg BA, van den Ouweland A, van Huffelen AC, van Nieuwenhuizen O, Nellist M. Jansen FE, et al. Neurology. 2008 Mar 18;70(12):908-15. doi: 10.1212/01.wnl.0000280578.99900.96. Epub 2007 Nov 21. Neurology. 2008. PMID: 18032745

7

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.

Sancak O, Nellist M, Goedbloed M, Elfferich P, Wouters C, Maat-Kievit A, Zonnenberg B, Verhoef S, Halley D, van den Ouweland A. Sancak O, et al. Eur J Hum Genet. 2005 Jun;13(6):731-41. doi: 10.1038/sj.ejhg.5201402. Eur J Hum Genet. 2005. PMID: 15798777

8

Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?

Cnossen MH, van der Est MN, Breuning MH, van Asperen CJ, Breslau-Siderius EJ, van der Ploeg AT, de Goede-Bolder A, van den Ouweland AM, Halley DJ, Niermeijer MF. Cnossen MH, et al. Among authors: halley dj. Hum Mutat. 1997;9(5):458-64. doi: 10.1002/(SICI)1098-1004(1997)9:5<458::AID-HUMU13>3.0.CO;2-1. Hum Mutat. 1997. PMID: 9143927

9

Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.

Losekoot M, Hoogendoorn E, Olmer R, Jansen CC, Oosterwijk JC, van den Ouweland AM, Halley DJ, Warren ST, Willemsen R, Oostra BA, Bakker E. Losekoot M, et al. Among authors: halley dj. J Med Genet. 1997 Nov;34(11):924-6. doi: 10.1136/jmg.34.11.924. J Med Genet. 1997. PMID: 9391887 Free PMC article.

10

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.

Kroos M, Pomponio RJ, van Vliet L, Palmer RE, Phipps M, Van der Helm R, Halley D, Reuser A; GAA Database Consortium. Kroos M, et al. Hum Mutat. 2008 Jun;29(6):E13-26. doi: 10.1002/humu.20745. Hum Mutat. 2008. PMID: 18425781

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