Hiel JA - Search Results

1

Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1.

Hiel JA, Weemaes CM, van Engelen BG, Smeets D, Ligtenberg M, van Der Burgt I, van Den Heuvel LP, Cerosaletti KM, Gabreëls FJ, Concannon P. Hiel JA, et al. J Med Genet. 2001 Jun;38(6):E19. doi: 10.1136/jmg.38.6.e19. J Med Genet. 2001. PMID: 11389166 Free PMC article. No abstract available.

2

Decreased immunoglobulin class switching in Nijmegen Breakage syndrome due to the DNA repair defect.

van Engelen BG, Hiel JA, Gabreëls FJ, van den Heuvel LP, van Gent DC, Weemaes CM. van Engelen BG, et al. Among authors: hiel ja. Hum Immunol. 2001 Dec;62(12):1324-7. doi: 10.1016/s0198-8859(01)00345-7. Hum Immunol. 2001. PMID: 11756000

3

Nijmegen breakage syndrome: a neuropathological study.

Lammens M, Hiel JA, Gabreëls FJ, van Engelen BG, van den Heuvel LP, Weemaes CM. Lammens M, et al. Among authors: hiel ja. Neuropediatrics. 2003 Aug;34(4):189-93. doi: 10.1055/s-2003-42207. Neuropediatrics. 2003. PMID: 12973659

4

A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.

van Belzen MJ, Hiel JA, Weemaes CM, Gabreëls FJ, van Engelen BG, Smeets DF, van den Heuvel LP. van Belzen MJ, et al. Among authors: hiel ja. Hum Genet. 1998 Feb;102(2):187-91. doi: 10.1007/s004390050675. Hum Genet. 1998. PMID: 9521587

5

Late-onset ataxia telangiectasia in two brothers presenting with juvenile resting tremor.

Hiel JA, Weemaes CM, Smeets DF, Van de Vlasakker CJ, Horstink MW. Hiel JA, et al. Mov Disord. 1994 Jul;9(4):460-2. doi: 10.1002/mds.870090415. Mov Disord. 1994. PMID: 7526160

6

Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia.

Hiel JA, van Engelen BG, Weemaes CM, Broeks A, Verrips A, ter Laak H, Vingerhoets HM, van den Heuvel LP, Lammens M, Gabreëls FJ, Last JI, Taylor AM. Hiel JA, et al. Neurology. 2006 Jul 25;67(2):346-9. doi: 10.1212/01.wnl.0000224878.22821.23. Neurology. 2006. PMID: 16864838

7

The Aircardi-Goutières syndrome: variable clinical expression in two siblings.

Verrips A, Hiel JA, Gabreëls FJ, Wesseling P, Rotteveel JJ. Verrips A, et al. Among authors: hiel ja. Pediatr Neurol. 1997 May;16(4):323-5. doi: 10.1016/s0887-8994(97)00028-3. Pediatr Neurol. 1997. PMID: 9258967

8

[From gene to disease; ataxia telangiectasia].

Broeks A, van 't Veer LJ, Ottenheim C, Hiel JA, Kleijer WJ, Weemaes C. Broeks A, et al. Among authors: hiel ja. Ned Tijdschr Geneeskd. 2003 Mar 1;147(9):386-9. Ned Tijdschr Geneeskd. 2003. PMID: 12661456 Review. Dutch.

9

Ileus in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes.

Hiel JA, Verrips A, Keyser A, Jansen TL, Wesseling P, de Coo R, Gabreëls FJ. Hiel JA, et al. Neth J Med. 1998 Jul;53(1):27-31. doi: 10.1016/s0300-2977(98)00018-7. Neth J Med. 1998. PMID: 9718939

10

Clinical spectrum of ataxia-telangiectasia in adulthood.

Verhagen MM, Abdo WF, Willemsen MA, Hogervorst FB, Smeets DF, Hiel JA, Brunt ER, van Rijn MA, Majoor Krakauer D, Oldenburg RA, Broeks A, Last JI, van't Veer LJ, Tijssen MA, Dubois AM, Kremer HP, Weemaes CM, Taylor AM, van Deuren M. Verhagen MM, et al. Among authors: hiel ja. Neurology. 2009 Aug 11;73(6):430-7. doi: 10.1212/WNL.0b013e3181af33bd. Epub 2009 Jun 17. Neurology. 2009. PMID: 19535770

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