Leys A - Search Results

1

ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.

Hu X, Plomp A, Wijnholds J, Ten Brink J, van Soest S, van den Born LI, Leys A, Peek R, de Jong PT, Bergen AA. Hu X, et al. Among authors: leys a. Eur J Hum Genet. 2003 Mar;11(3):215-24. doi: 10.1038/sj.ejhg.5200953. Eur J Hum Genet. 2003. PMID: 12673275

2

Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum.

Hu X, Peek R, Plomp A, ten Brink Jt, Scheffer G, van Soest S, Leys A, de Jong PT, Bergen AA. Hu X, et al. Among authors: leys a. Invest Ophthalmol Vis Sci. 2003 May;44(5):1824-9. doi: 10.1167/iovs.02-0981. Invest Ophthalmol Vis Sci. 2003. PMID: 12714611

3

Pseudoxanthoma elasticum: clinical, histologic, and genetic studies--a report of two sisters.

Kaimbo DK, Mutosh A, Leys A, Parys-van Ginderdeuren R, Bergen AA. Kaimbo DK, et al. Among authors: leys a. Skinmed. 2011 Mar-Apr;9(2):119-21. Skinmed. 2011. PMID: 21548520

4

[From gene to disease; mutation in mitochondrial DNA and maternally inherited diabetes mellitus with deafness (MIDD)].

Leys AM, de Jong PT. Leys AM, et al. Ned Tijdschr Geneeskd. 2001 Nov 17;145(46):2250-2. Ned Tijdschr Geneeskd. 2001. PMID: 11757250 Dutch. No abstract available.

5

Pseudoxanthoma elasticum confirmed by genetic analysis but not by skin biopsy: a case report and review of the literature.

Van Loey S, Leys A. Van Loey S, et al. Among authors: leys a. Bull Soc Belge Ophtalmol. 2013;(322):83-7. Bull Soc Belge Ophtalmol. 2013. PMID: 24923087 Review.

6

Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).

Devriendt K, Matthijs G, Van Damme B, Van Caesbroeck D, Eccles M, Vanrenterghem Y, Fryns JP, Leys A. Devriendt K, et al. Among authors: leys a. Hum Genet. 1998 Aug;103(2):149-53. doi: 10.1007/s004390050798. Hum Genet. 1998. PMID: 9760197

7

Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.

Schimmenti LA, Cunliffe HE, McNoe LA, Ward TA, French MC, Shim HH, Zhang YH, Proesmans W, Leys A, Byerly KA, Braddock SR, Masuno M, Imaizumi K, Devriendt K, Eccles MR. Schimmenti LA, et al. Among authors: leys a. Am J Hum Genet. 1997 Apr;60(4):869-78. Am J Hum Genet. 1997. PMID: 9106533 Free PMC article.

8

Medullated nerve fibers. A sign of multiple basal cell nevi (Gorlin's) syndrome.

De Jong PT, Bistervels B, Cosgrove J, de Grip G, Leys A, Goffin M. De Jong PT, et al. Among authors: leys a. Arch Ophthalmol. 1985 Dec;103(12):1833-6. doi: 10.1001/archopht.1985.01050120067022. Arch Ophthalmol. 1985. PMID: 4074174

9

[Myelin fibers in Zairian patients].

Kaimbo DK, Mwilambwe AM, Leys A, Missotten L. Kaimbo DK, et al. Among authors: leys a. Bull Soc Belge Ophtalmol. 1995;259:127-31. Bull Soc Belge Ophtalmol. 1995. PMID: 8983529 French.

10

A retinoblastoma with an unusual aspect in a 5-year-old girl.

Parys-Van Ginderdeuren R, Leys A, van den Oord J, Valvekens F, Missotten L. Parys-Van Ginderdeuren R, et al. Among authors: leys a. Bull Soc Belge Ophtalmol. 1993;248:23-7. Bull Soc Belge Ophtalmol. 1993. PMID: 8044327

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