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Items: 13

1.

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.

Latorre-Pellicer A, Ascaso Á, Trujillano L, Gil-Salvador M, Arnedo M, Lucia-Campos C, Antoñanzas-Pérez R, Marcos-Alcalde I, Parenti I, Bueno-Lozano G, Musio A, Puisac B, Kaiser FJ, Ramos FJ, Gómez-Puertas P, Pié J.

Int J Mol Sci. 2020 Feb 4;21(3). pii: E1042. doi: 10.3390/ijms21031042.

2.

More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones.

Arnedo M, Latorre-Pellicer A, Lucia-Campos C, Gil-Salvador M, Antoñanzas-Peréz R, Gómez-Puertas P, Bueno-Lozano G, Puisac B, Pié J.

Int J Mol Sci. 2019 Dec 4;20(24). pii: E6124. doi: 10.3390/ijms20246124. Review.

3.

SAF-A Regulates Interphase Chromosome Structure through Oligomerization with Chromatin-Associated RNAs.

Nozawa RS, Boteva L, Soares DC, Naughton C, Dun AR, Buckle A, Ramsahoye B, Bruton PC, Saleeb RS, Arnedo M, Hill B, Duncan RR, Maciver SK, Gilbert N.

Cell. 2017 Jun 15;169(7):1214-1227.e18. doi: 10.1016/j.cell.2017.05.029.

4.

New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations.

Ramos M, Menao S, Arnedo M, Puisac B, Gil-Rodríguez MC, Teresa-Rodrigo ME, Hernández-Marcos M, Pierre G, Ramaswami U, Baquero-Montoya C, Bueno G, Casale C, Hegardt FG, Gómez-Puertas P, Pié J.

Eur J Med Genet. 2013 Aug;56(8):411-5. doi: 10.1016/j.ejmg.2013.05.008. Epub 2013 Jun 7.

PMID:
23751782
5.

Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency.

Puisac B, Teresa-Rodrigo ME, Arnedo M, Gil-Rodríguez MC, Pérez-Cerdá C, Ribes A, Pié A, Bueno G, Gómez-Puertas P, Pié J.

Mol Genet Metab. 2013 Apr;108(4):232-40. doi: 10.1016/j.ymgme.2013.01.019. Epub 2013 Feb 4.

PMID:
23465862
6.

Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol.

Arnedo M, Menao S, Puisac B, Teresa-Rodrigo ME, Gil-Rodríguez MC, López-Viñas E, Gómez-Puertas P, Casals N, Casale CH, Hegardt FG, Pié J.

J Lipid Res. 2012 Oct;53(10):2046-56. doi: 10.1194/jlr.M025700. Epub 2012 Jul 30.

7.

Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual.

Wierzba J, Gil-Rodríguez MC, Polucha A, Puisac B, Arnedo M, Teresa-Rodrigo ME, Winnicka D, Hegardt FG, Ramos FJ, Limon J, Pié J.

BMC Med Genet. 2012 Jun 7;13:43.

8.

Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.

Puisac B, Ramos M, Arnedo M, Menao S, Gil-Rodríguez MC, Teresa-Rodrigo ME, Pié A, de Karam JC, Wesselink JJ, Giménez I, Ramos FJ, Casals N, Gómez-Puertas P, Hegardt FG, Pié J.

Mol Biol Rep. 2012 Apr;39(4):4777-85. doi: 10.1007/s11033-011-1270-8. Epub 2011 Sep 28.

PMID:
21952825
9.

Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria.

Puisac B, Arnedo M, Casale CH, Ribate MP, Castiella T, Ramos FJ, Ribes A, Pérez-Cerdá C, Casals N, Hegardt FG, Pié J.

J Inherit Metab Dis. 2010 Aug;33(4):405-10. doi: 10.1007/s10545-010-9097-3. Epub 2010 Jun 8.

10.

Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.

Pié J, Gil-Rodríguez MC, Ciero M, López-Viñas E, Ribate MP, Arnedo M, Deardorff MA, Puisac B, Legarreta J, de Karam JC, Rubio E, Bueno I, Baldellou A, Calvo MT, Casals N, Olivares JL, Losada A, Hegardt FG, Krantz ID, Gómez-Puertas P, Ramos FJ.

Am J Med Genet A. 2010 Apr;152A(4):924-9. doi: 10.1002/ajmg.a.33348.

11.

[The evolution of quality care indicators of patients with type 2 diabetes in the Spanish primary care (1996-2007). The RedGEDAPS quality of care program].

Franch Nadal J, Artola Menéndez S, Diez Espino J, Mata Cases M; en representación de la Red de Grupos de Estudio de la Diabetes en Atención Primaria de la Salud.

Med Clin (Barc). 2010 Nov 6;135(13):600-7. doi: 10.1016/j.medcli.2009.06.033. Epub 2009 Sep 18. Spanish. No abstract available.

PMID:
19765772
12.

Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.

Menao S, López-Viñas E, Mir C, Puisac B, Gratacós E, Arnedo M, Carrasco P, Moreno S, Ramos M, Gil MC, Pié A, Ribes A, Pérez-Cerda C, Ugarte M, Clayton PT, Korman SH, Serra D, Asins G, Ramos FJ, Gómez-Puertas P, Hegardt FG, Casals N, Pié J.

Hum Mutat. 2009 Mar;30(3):E520-9. doi: 10.1002/humu.20966.

PMID:
19177531
13.

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID.

Am J Hum Genet. 2007 Mar;80(3):485-94. Epub 2007 Jan 17.

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