González-Meneses A - Search Results

1

Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain.

Pajares S, Alcalde C, Couce ML, Del Toro M, González-Meneses A, Guillén E, Pineda M, Pintos G, Gort L, Coll MJ. Pajares S, et al. Mol Genet Metab. 2012 Jun;106(2):196-201. doi: 10.1016/j.ymgme.2012.03.006. Epub 2012 Mar 24. Mol Genet Metab. 2012. PMID: 22521955

2

Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort.

Gónzalez-Meneses A, Pineda M, Bandeira A, Janeiro P, Ruiz MÁ, Diogo L, Cancho-Candela R. Gónzalez-Meneses A, et al. Orphanet J Rare Dis. 2021 Oct 22;16(1):445. doi: 10.1186/s13023-021-02063-1. Orphanet J Rare Dis. 2021. PMID: 34686181 Free PMC article.

3

Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus.

González-Gutiérrez-Solana L, Guillén-Navarro E, Del Toro M, Dalmau J, González-Meneses A, Couce ML. González-Gutiérrez-Solana L, et al. Medicine (Baltimore). 2018 Jul;97(29):e11246. doi: 10.1097/MD.0000000000011246. Medicine (Baltimore). 2018. PMID: 30024503 Free PMC article.

4

Clinical course of sly syndrome (mucopolysaccharidosis type VII).

Montaño AM, Lock-Hock N, Steiner RD, Graham BH, Szlago M, Greenstein R, Pineda M, Gonzalez-Meneses A, Çoker M, Bartholomew D, Sands MS, Wang R, Giugliani R, Macaya A, Pastores G, Ketko AK, Ezgü F, Tanaka A, Arash L, Beck M, Falk RE, Bhattacharya K, Franco J, White KK, Mitchell GA, Cimbalistiene L, Holtz M, Sly WS. Montaño AM, et al. J Med Genet. 2016 Jun;53(6):403-18. doi: 10.1136/jmedgenet-2015-103322. Epub 2016 Feb 23. J Med Genet. 2016. PMID: 26908836 Free PMC article.

5

Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.

Mondéjar R, Solano F, Rubio R, Delgado M, Pérez-Sempere A, González-Meneses A, Vendrell T, Izquierdo G, Martinez-Mir A, Lucas M. Mondéjar R, et al. PLoS One. 2014 Jan 23;9(1):e86286. doi: 10.1371/journal.pone.0086286. eCollection 2014. PLoS One. 2014. PMID: 24466005 Free PMC article.

6

Association of neural tube defects in children of mothers with MTHFR 677TT genotype and abnormal carbohydrate metabolism risk: a case-control study.

Cadenas-Benitez NM, Yanes-Sosa F, Gonzalez-Meneses A, Cerrillos L, Acosta D, Praena-Fernandez JM, Neth O, Gomez de Terreros I, Ybot-González P. Cadenas-Benitez NM, et al. Genet Mol Res. 2014 Mar 26;13(1):2200-7. doi: 10.4238/2014.March.26.8. Genet Mol Res. 2014. PMID: 24737468 Free article.

7

Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing.

Delarosa-Rodríguez R, Santotoribio JD, Paula HA, González-Meneses A, García-Morillo S, Jiménez-Arriscado P, Guerrero JM, Macher HC. Delarosa-Rodríguez R, et al. Among authors: gonzalez meneses a. Clin Genet. 2021 Jun;99(6):761-771. doi: 10.1111/cge.13936. Epub 2021 Feb 10. Clin Genet. 2021. PMID: 33527381

8

Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.

Hernández-Arévalo P, Santotoribio JD, Delarosa-Rodríguez R, González-Meneses A, García-Morillo S, Jiménez-Arriscado P, Guerrero JM, Macher HC. Hernández-Arévalo P, et al. Among authors: gonzalez meneses a. Orphanet J Rare Dis. 2021 May 21;16(1):233. doi: 10.1186/s13023-021-01864-8. Orphanet J Rare Dis. 2021. PMID: 34020684 Free PMC article.

9

[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].

Carcavilla A, García-Miñaúr S, Pérez-Aytés A, Vendrell T, Pinto I, Guillén-Navarro E, González-Meneses A, Aoki Y, Grinberg D, Ezquieta B. Carcavilla A, et al. Med Clin (Barc). 2015 Jan 20;144(2):67-72. doi: 10.1016/j.medcli.2014.06.009. Epub 2014 Sep 4. Med Clin (Barc). 2015. PMID: 25194980 Spanish.

10

Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region.

Fernández RM, Núñez-Torres R, González-Meneses A, Antiñolo G, Borrego S. Fernández RM, et al. BMC Med Genet. 2010 Sep 22;11:137. doi: 10.1186/1471-2350-11-137. BMC Med Genet. 2010. PMID: 20860806 Free PMC article.

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