Grinberg D - Search Results

1

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.

Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. Among authors: grinberg d. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.

2

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: grinberg d. Hum Genet. 1992 May;89(3):287-91. doi: 10.1007/BF00220541. Hum Genet. 1992. PMID: 1351033

3

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: grinberg d. Hum Mutat. 1995;5(3):228-34. doi: 10.1002/humu.1380050307. Hum Mutat. 1995. PMID: 7599633

4

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: grinberg d. Hum Genet. 1995 Jul;96(1):89-94. doi: 10.1007/BF00214192. Hum Genet. 1995. PMID: 7607661

5

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: grinberg d. Hum Genet. 1994 Aug;94(2):193-4. doi: 10.1007/BF00202869. Hum Genet. 1994. PMID: 8045567

6

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: grinberg d. Hum Genet. 1996 Jan;97(1):35-8. doi: 10.1007/BF00218829. Hum Genet. 1996. PMID: 8557257

7

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: grinberg d. 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.

8

Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa.

Valverde D, Baiget M, Seminago R, del Rio E, García-Sandoval B, del Rio T, Bayés M, Balcells S, Martínez A, Grinberg D, Ayuso C. Valverde D, et al. Among authors: grinberg d. Hum Mutat. 1996;8(4):393-4. doi: 10.1002/humu.1380080403. Hum Mutat. 1996. PMID: 8956055 No abstract available.

9

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: grinberg d. Clin Genet. 1996 Nov;50(5):380-7. doi: 10.1111/j.1399-0004.1996.tb02392.x. Clin Genet. 1996. PMID: 9007328 Free article.

10

A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21.

Martínez-Mir A, Bayés M, Vilageliu L, Grinberg D, Ayuso C, del Río T, García-Sandoval B, Bussaglia E, Baiget M, Gonzàlez-Duarte R, Balcells S. Martínez-Mir A, et al. Among authors: grinberg d. Genomics. 1997 Feb 15;40(1):142-6. doi: 10.1006/geno.1996.4528. Genomics. 1997. PMID: 9070931 Free article.

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