Balcells S - Search Results

1

Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci.

Martínez-Gil N, Ovejero D, Garcia-Giralt N, Bruque CD, Mellibovsky L, Nogués X, Rabionet R, Grinberg D, Balcells S. Martínez-Gil N, et al. Among authors: balcells s. JBMR Plus. 2022 Feb 18;6(4):e10602. doi: 10.1002/jbm4.10602. eCollection 2022 Apr. JBMR Plus. 2022. PMID: 35434450 Free PMC 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: balcells s. 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: balcells s. 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: balcells s. Hum Mutat. 1995;5(4):303-9. doi: 10.1002/humu.1380050406. Hum Mutat. 1995. PMID: 7627184

5

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: balcells s. 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.

6

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: balcells s. J Inherit Metab Dis. 1996;19(6):798-800. doi: 10.1007/BF01799179. J Inherit Metab Dis. 1996. PMID: 8982958 No abstract available.

7

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

8

Putative association of a mutant ROM1 allele with retinitis pigmentosa.

Martínez-Mir A, Vilela C, Bayés M, Valverde D, Dain L, Beneyto M, Marco M, Baiget M, Grinberg D, Balcells S, Gonzàlez-Duarte R, Vilageliu L. Martínez-Mir A, et al. Among authors: balcells s. Hum Genet. 1997 Jun;99(6):827-30. doi: 10.1007/s004390050456. Hum Genet. 1997. PMID: 9187681 Free article.

9

Two successful pregnancies in pyridoxine-nonresponsive homocystinuria.

Vilaseca MA, Cuartero ML, Martinez de Salinas M, Lambruschini N, Pintó X, Urreizti R, Balcells S, Grinberg D. Vilaseca MA, et al. Among authors: balcells s. J Inherit Metab Dis. 2004;27(6):775-7. doi: 10.1023/b:boli.0000045840.18383.25. J Inherit Metab Dis. 2004. PMID: 15617186

10

COL1A1, ESR1, VDR and TGFB1 polymorphisms and haplotypes in relation to BMD in Spanish postmenopausal women.

Bustamante M, Nogués X, Enjuanes A, Elosua R, García-Giralt N, Pérez-Edo L, Cáceres E, Carreras R, Mellibovsky L, Balcells S, Díez-Pérez A, Grinberg D. Bustamante M, et al. Among authors: balcells s. Osteoporos Int. 2007 Feb;18(2):235-43. doi: 10.1007/s00198-006-0225-8. Epub 2006 Oct 5. Osteoporos Int. 2007. PMID: 17021946

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