Grinberg D - Search Results

1

Homocysteine and the MTHFR 677C-->T allele in premature coronary artery disease. Case control and family studies.

Pintó X, Vilaseca MA, Garcia-Giralt N, Ferrer I, Palá M, Meco JF, Mainou C, Ordovás JM, Grinberg D, Balcells S; Baix Llobregat Homocysteine Study Group. Pintó X, et al. Among authors: grinberg d. Eur J Clin Invest. 2001 Jan;31(1):24-30. doi: 10.1046/j.1365-2362.2001.00760.x. Eur J Clin Invest. 2001. PMID: 11168435

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

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: grinberg d. Hum Mutat. 1995;5(4):303-9. doi: 10.1002/humu.1380050406. Hum Mutat. 1995. PMID: 7627184

5

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: grinberg d. Clin Genet. 1993 Dec;44(6):320-3. doi: 10.1111/j.1399-0004.1993.tb03908.x. Clin Genet. 1993. PMID: 8131304

6

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.

7

Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain.

Chabás A, Cormand B, Balcells S, González-Duarte R, Casanova C, Colomer J, Vilageliu L, Grinberg D. Chabás A, et al. Among authors: grinberg d. J Inherit Metab Dis. 1996;19(6):798-800. doi: 10.1007/BF01799179. J Inherit Metab Dis. 1996. PMID: 8982958 No abstract available.

8

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.

9

Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.

Montfort M, Vilageliu L, Garcia-Giralt N, Guidi S, Coll MJ, Chabás A, Grinberg D. Montfort M, et al. Among authors: grinberg d. Hum Mutat. 1998;12(4):274-9. doi: 10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F. Hum Mutat. 1998. PMID: 9744479

10

Two new single-nucleotide polymorphisms in the COL1A1 upstream regulatory region and their relationship to bone mineral density.

Garcia-Giralt N, Nogués X, Enjuanes A, Puig J, Mellibovsky L, Bay-Jensen A, Carreras R, Balcells S, Díez-Pérez A, Grinberg D. Garcia-Giralt N, et al. Among authors: grinberg d. J Bone Miner Res. 2002 Mar;17(3):384-93. doi: 10.1359/jbmr.2002.17.3.384. J Bone Miner Res. 2002. PMID: 11874231 Free article.

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