Pérez B - Search Results

1

Ndufs4 related Leigh syndrome: A case report and review of the literature.

Ortigoza-Escobar JD, Oyarzabal A, Montero R, Artuch R, Jou C, Jiménez C, Gort L, Briones P, Muchart J, López-Gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-Pombo P, Pérez-Dueñas B. Ortigoza-Escobar JD, et al. Among authors: perez b, perez duenas b. Mitochondrion. 2016 May;28:73-8. doi: 10.1016/j.mito.2016.04.001. Epub 2016 Apr 11. Mitochondrion. 2016. PMID: 27079373 Review.

2

Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.

Rodríguez-Pombo P, Hoenicka J, Muro S, Pérez B, Pérez-Cerdá C, Richard E, Desviat LR, Ugarte M. Rodríguez-Pombo P, et al. Among authors: perez cerda c, perez b. Am J Hum Genet. 1998 Aug;63(2):360-9. doi: 10.1086/301970. Am J Hum Genet. 1998. PMID: 9683601 Free PMC article.

3

Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia.

Muro S, Perez-Cerdá C, Roddríguez-Pombo P, Pérez B, Briones P, Ribes A, Ugarte M. Muro S, et al. Among authors: perez cerda c, perez b. J Med Genet. 1999 May;36(5):412-4. J Med Genet. 1999. PMID: 10353789 Free PMC article.

4

Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online.

Muro S, Rodríguez-Pombo P, Pérez B, Pérez-Cerdá C, Desviat LR, Sperl W, Skladal D, Sass JO, Ugarte M. Muro S, et al. Among authors: perez cerda c, perez b. Hum Mutat. 1999;14(1):89-90. doi: 10.1002/(SICI)1098-1004(1999)14:1<89::AID-HUMU18>3.0.CO;2-5. Hum Mutat. 1999. PMID: 10447268

5

Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.

Ugarte M, Pérez-Cerdá C, Rodríguez-Pombo P, Desviat LR, Pérez B, Richard E, Muro S, Campeau E, Ohura T, Gravel RA. Ugarte M, et al. Among authors: perez cerda c, perez b. Hum Mutat. 1999;14(4):275-82. doi: 10.1002/(SICI)1098-1004(199910)14:4<275::AID-HUMU1>3.0.CO;2-N. Hum Mutat. 1999. PMID: 10502773 Review.

6

Potential relationship between genotype and clinical outcome in propionic acidaemia patients.

Pérez-Cerdá C, Merinero B, Rodríguez-Pombo P, Pérez B, Desviat LR, Muro S, Richard E, García MJ, Gangoiti J, Ruiz Sala P, Sanz P, Briones P, Ribes A, Martínez-Pardo M, Campistol J, Pérez M, Lama R, Murga ML, Lema-Garrett T, Verdú A, Ugarte M. Pérez-Cerdá C, et al. Among authors: perez m, perez b. Eur J Hum Genet. 2000 Mar;8(3):187-94. doi: 10.1038/sj.ejhg.5200442. Eur J Hum Genet. 2000. PMID: 10780784

7

Mutations affecting the beta-beta homomeric interaction in propionic acidaemia: an approach to the determination of the beta-propionyl-CoA carboxylase functional domains.

Muro S, Pérez B, Rodríguez-Pombo P, Desviat LR, Pérez-Cerdá C, Ugarte M. Muro S, et al. Among authors: perez cerda c, perez b. J Inherit Metab Dis. 2000 Jun;23(4):300-4. doi: 10.1023/a:1005617420460. J Inherit Metab Dis. 2000. PMID: 10896279 No abstract available.

8

Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.

Muro S, Pérez B, Desviat LR, Rodríguez-Pombo P, Pérez-Cerdá C, Clavero S, Ugarte M. Muro S, et al. Among authors: perez cerda c, perez b. Mol Genet Metab. 2001 Dec;74(4):476-83. doi: 10.1006/mgme.2001.3254. Mol Genet Metab. 2001. PMID: 11749052

9

Transfection screening for defects in the PCCA and PCCB genes encoding propionyl-CoA carboxylase subunits.

Rodriguez-Pombo P, Pérez-Cerdá C, Desviat LR, Pérez B, Ugarte M, Rodríguez-Pombo P. Rodriguez-Pombo P, et al. Among authors: perez cerda c, perez b. Mol Genet Metab. 2002 Mar;75(3):276-9. doi: 10.1006/mgme.2001.3296. Mol Genet Metab. 2002. PMID: 11914040

10

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.

Pérez B, Desviat LR, Rodríguez-Pombo P, Clavero S, Navarrete R, Perez-Cerdá C, Ugarte M. Pérez B, et al. Among authors: perez cerda c. Mol Genet Metab. 2003 Jan;78(1):59-67. doi: 10.1016/s1096-7192(02)00197-x. Mol Genet Metab. 2003. PMID: 12559849

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