Balcells S - Search Results

1

Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.

Urreizti R, Mayer K, Evrony GD, Said E, Castilla-Vallmanya L, Cody NAL, Plasencia G, Gelb BD, Grinberg D, Brinkmann U, Webb BD, Balcells S. Urreizti R, et al. Among authors: balcells s. Eur J Hum Genet. 2020 Jan;28(1):138. doi: 10.1038/s41431-019-0394-5. Eur J Hum Genet. 2020. PMID: 31477843 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

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

6

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

7

Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

Chabás A, Cormand B, Grinberg D, Burguera JM, Balcells S, Merino JL, Mate I, Sobrino JA, Gonzàlez-Duarte R, Vilageliu L. Chabás A, et al. Among authors: balcells s. J Med Genet. 1995 Sep;32(9):740-2. doi: 10.1136/jmg.32.9.740. J Med Genet. 1995. PMID: 8544197 Free PMC article.

8

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

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: 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.

10

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.

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