Vilageliu L - Search Results

1

Linkage disequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population.

Cobo A, Grinberg D, Balcells S, Vilageliu L, Gonzàlez-Duarte R, Baiget M. Cobo A, et al. Among authors: vilageliu l. Hum Genet. 1992 May;89(3):287-91. doi: 10.1007/BF00220541. Hum Genet. 1992. PMID: 1351033

2

Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families.

Bayés M, Valverde D, Balcells S, Grinberg D, Vilageliu L, Benítez J, Ayuso C, Beneyto M, Baiget M, Gonzàlez-Duarte R. Bayés M, et al. Among authors: vilageliu l. Hum Genet. 1995 Jul;96(1):89-94. doi: 10.1007/BF00214192. Hum Genet. 1995. PMID: 7607661

3

Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172.

Valverde D, Bayés M, Martínez I, Grinberg D, Vilageliu L, Balcells S, Gonzàlez-Duarte R, Baiget M. Valverde D, et al. Among authors: vilageliu l. Hum Genet. 1994 Aug;94(2):193-4. doi: 10.1007/BF00202869. Hum Genet. 1994. PMID: 8045567

4

A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family.

Valverde D, Solans T, Grinberg D, Balcells S, Vilageliu L, Bayés M, Chivelet P, Besmond C, Goossens M, González-Duarte R, Baiget M. Valverde D, et al. Among authors: vilageliu l. Hum Genet. 1996 Jan;97(1):35-8. doi: 10.1007/BF00218829. Hum Genet. 1996. PMID: 8557257

5

Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease.

Cormand B, Montfort M, Chabás A, Vilageliu L, Grinberg D. Cormand B, et al. Among authors: vilageliu l. Hum Genet. 1997 Jul;100(1):75-9. doi: 10.1007/s004390050468. Hum Genet. 1997. PMID: 9225972

6

Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.

Bayés M, Giordano M, Balcells S, Grinberg D, Vilageliu L, Martínez I, Ayuso C, Benítez J, Ramos-Arroyo MA, Chivelet P, et al. Bayés M, et al. Among authors: vilageliu l. Hum Mutat. 1995;5(3):228-34. doi: 10.1002/humu.1380050307. Hum Mutat. 1995. PMID: 7599633

7

Gaucher disease in Spanish patients: analysis of eight mutations.

Cormand B, Vilageliu L, Burguera JM, Balcells S, Gonzàlez-Duarte R, Grinberg D, Chabás A. Cormand B, et al. Among authors: vilageliu l. Hum Mutat. 1995;5(4):303-9. doi: 10.1002/humu.1380050406. Hum Mutat. 1995. PMID: 7627184

8

Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population.

Chabás A, Castellvi S, Bayés M, Balcells S, Grinberg D, Vilageliu L, Marfany G, Lissens W, Gonzàlez-Duarte R. Chabás A, et al. Among authors: vilageliu l. Clin Genet. 1993 Dec;44(6):320-3. doi: 10.1111/j.1399-0004.1993.tb03908.x. Clin Genet. 1993. PMID: 8131304

9

Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients.

Cormand B, Vilageliu L, Balcells S, Gonzàlez-Duarte R, Chabás A, Grinberg D. Cormand B, et al. Among authors: vilageliu l. Hum Mutat. 1996;7(3):272-4. doi: 10.1002/(SICI)1098-1004(1996)7:3<272::AID-HUMU14>3.0.CO;2-#. Hum Mutat. 1996. PMID: 8829663 No abstract available.

10

Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease.

Bayés M, Martínez-Mir A, Valverde D, del Río E, Vilageliu L, Grinberg D, Balcells S, Ayuso C, Baiget M, Gonzàlez-Duarte R. Bayés M, et al. Among authors: vilageliu l. Clin Genet. 1996 Nov;50(5):380-7. doi: 10.1111/j.1399-0004.1996.tb02392.x. Clin Genet. 1996. PMID: 9007328 Free article.

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