Balcells S - Search Results

1

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.

Urreizti R, Lopez-Martin E, Martinez-Monseny A, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan M, Grinberg D, Bermejo-Sánchez E, Balcells S. Urreizti R, et al. Among authors: balcells s. Orphanet J Rare Dis. 2020 Feb 10;15(1):44. doi: 10.1186/s13023-020-1317-9. Orphanet J Rare Dis. 2020. PMID: 32041641 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

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

4

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.

5

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.

6

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

7

Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.

Urreizti R, Moya-García AA, Pino-Ángeles A, Cozar M, Langkilde A, Fanhoe U, Esteves C, Arribas J, Vilaseca MA, Pérez-Dueñas B, Pineda M, González V, Artuch R, Baldellou A, Vilarinho L, Fowler B, Ribes A, Sánchez-Jiménez F, Grinberg D, Balcells S. Urreizti R, et al. Among authors: balcells s. Clin Genet. 2010 Nov;78(5):441-8. doi: 10.1111/j.1399-0004.2010.01391.x. Clin Genet. 2010. PMID: 20236116

8

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.

Sarrión P, Sangorrin A, Urreizti R, Delgado A, Artuch R, Martorell L, Armstrong J, Anton J, Torner F, Vilaseca MA, Nevado J, Lapunzina P, Asteggiano CG, Balcells S, Grinberg D. Sarrión P, et al. Among authors: balcells s. Sci Rep. 2013;3:1346. doi: 10.1038/srep01346. Sci Rep. 2013. PMID: 23439489 Free PMC article.

9

A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG.

Delgado MA, Martinez-Domenech G, Sarrión P, Urreizti R, Zecchini L, Robledo HH, Segura F, de Kremer RD, Balcells S, Grinberg D, Asteggiano CG. Delgado MA, et al. Among authors: balcells s. Sci Rep. 2014 Sep 18;4:6407. doi: 10.1038/srep06407. Sci Rep. 2014. PMID: 25230886 Free PMC article.

10

Discrepancy between bone density and bone material strength index in three siblings with Camurati-Engelmann disease.

Herrera S, Soriano R, Nogués X, Güerri-Fernandez R, Grinberg D, García-Giralt N, Martínez-Gil N, Castejón S, González-Lizarán A, Balcells S, Diez-Perez A. Herrera S, et al. Among authors: balcells s. Osteoporos Int. 2017 Dec;28(12):3489-3493. doi: 10.1007/s00198-017-4198-6. Epub 2017 Aug 25. Osteoporos Int. 2017. PMID: 28842728

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