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Results: 1 to 20 of 299

1.

Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.

Castro M, Carrillo R, García F, Sanz P, Ferrer I, Ruiz-Sala P, Vega AI, Ruíz Desviat L, Pérez B, Pérez-Cerdá C, Merinero B, Ugarte M.

Nucleosides Nucleotides Nucleic Acids. 2014;33(4-6):233-40. doi: 10.1080/15257770.2013.854381.

PMID:
24940674
[PubMed - in process]
2.

Toward male individualization with rapidly mutating y-chromosomal short tandem repeats.

Ballantyne KN, Ralf A, Aboukhalid R, Achakzai NM, Anjos MJ, Ayub Q, Balažic J, Ballantyne J, Ballard DJ, Berger B, Bobillo C, Bouabdellah M, Burri H, Capal T, Caratti S, Cárdenas J, Cartault F, Carvalho EF, Carvalho M, Cheng B, Coble MD, Comas D, Corach D, D'Amato ME, Davison S, de Knijff P, De Ungria MC, Decorte R, Dobosz T, Dupuy BM, Elmrghni S, Gliwiński M, Gomes SC, Grol L, Haas C, Hanson E, Henke J, Henke L, Herrera-Rodríguez F, Hill CR, Holmlund G, Honda K, Immel UD, Inokuchi S, Jobling MA, Kaddura M, Kim JS, Kim SH, Kim W, King TE, Klausriegler E, Kling D, Kovačević L, Kovatsi L, Krajewski P, Kravchenko S, Larmuseau MH, Lee EY, Lessig R, Livshits LA, Marjanović D, Minarik M, Mizuno N, Moreira H, Morling N, Mukherjee M, Munier P, Nagaraju J, Neuhuber F, Nie S, Nilasitsataporn P, Nishi T, Oh HH, Olofsson J, Onofri V, Palo JU, Pamjav H, Parson W, Petlach M, Phillips C, Ploski R, Prasad SP, Primorac D, Purnomo GA, Purps J, Rangel-Villalobos H, Rębała K, Rerkamnuaychoke B, Gonzalez DR, Robino C, Roewer L, Rosa A, Sajantila A, Sala A, Salvador JM, Sanz P, Schmitt C, Sharma AK, Silva DA, Shin KJ, Sijen T, Sirker M, Siváková D, Skaro V, Solano-Matamoros C, Souto L, Stenzl V, Sudoyo H, Syndercombe-Court D, Tagliabracci A, Taylor D, Tillmar A, Tsybovsky IS, Tyler-Smith C, van der Gaag KJ, Vanek D, Völgyi A, Ward D, Willemse P, Yap EP, Yong RY, Pajnič IZ, Kayser M.

Hum Mutat. 2014 Aug;35(8):1021-32. doi: 10.1002/humu.22599. Epub 2014 Jul 14.

PMID:
24917567
[PubMed - in process]
Free PMC Article
3.

Role of water structure on the high pressure micellization and phase transformations of sodium dodecanoate aqueous solutions.

Hidalgo Baltasar E, Taravillo M, Sanz PD, Baonza VG, Guignon B.

Langmuir. 2014 Jul 1;30(25):7343-52. doi: 10.1021/la501659x. Epub 2014 Jun 20.

PMID:
24903603
[PubMed - in process]
4.

Genetic polymorphism related to exfoliative glaucoma is also associated with primary open-angle glaucoma risk.

Zanon-Moreno V, Zanon-Moreno L, Ortega-Azorin C, Asensio-Marquez EM, Garcia-Medina JJ, Sanz P, Pinazo-Duran MD, Ordovás JM, Corella D.

Clin Experiment Ophthalmol. 2014 Jun 3. doi: 10.1111/ceo.12367. [Epub ahead of print]

PMID:
24893574
[PubMed - as supplied by publisher]
5.

Increased Oxidative Stress and Impaired Antioxidant Response in Lafora Disease.

Romá-Mateo C, Aguado C, García-Giménez JL, Ibáñez-Cabellos JS, Seco-Cervera M, Pallardó FV, Knecht E, Sanz P.

Mol Neurobiol. 2014 May 17. [Epub ahead of print]

PMID:
24838580
[PubMed - as supplied by publisher]
6.

Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.

García-Cazorla A, Oyarzabal A, Fort J, Robles C, Castejón E, Ruiz-Sala P, Bodoy S, Merinero B, Lopez-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch R, Palacín M, Rodríguez-Pombo P, Alcaide P, Navarrete R, Sanz P, Font-Llitjós M, Vilaseca MA, Ormaizabal A, Pristoupilova A, Agulló SB.

Hum Mutat. 2014 Apr;35(4):470-7. doi: 10.1002/humu.22513. Epub 2014 Mar 5.

PMID:
24449431
[PubMed - in process]
7.

A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2.

Noetzli L, Sanz PG, Brodsky GL, Hinckley JD, Giugni JC, Giannaula RJ, Gonzalez-Alegre P, Di Paola J.

Gene. 2014 Jan 1;533(1):447-50. doi: 10.1016/j.gene.2013.09.076. Epub 2013 Oct 5.

PMID:
24103481
[PubMed - indexed for MEDLINE]
8.

Dimerization of the glucan phosphatase laforin requires the participation of cysteine 329.

Sánchez-Martín P, Raththagala M, Bridges TM, Husodo S, Gentry MS, Sanz P, Romá-Mateo C.

PLoS One. 2013 Jul 26;8(7):e69523. doi: 10.1371/journal.pone.0069523. Print 2013.

PMID:
23922729
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

Tondo M, Calpena E, Arriola G, Sanz P, Martorell L, Ormazabal A, Castejon E, Palacin M, Ugarte M, Espinos C, Perez B, Perez-Dueñas B, Pérez-Cerda C, Artuch R.

Mol Genet Metab. 2013 Nov;110(3):231-6. doi: 10.1016/j.ymgme.2013.06.021. Epub 2013 Jul 6.

PMID:
23890588
[PubMed - indexed for MEDLINE]
10.

Lafora disease fibroblasts exemplify the molecular interdependence between thioredoxin 1 and the proteasome in mammalian cells.

García-Giménez JL, Seco-Cervera M, Aguado C, Romá-Mateo C, Dasí F, Priego S, Markovic J, Knecht E, Sanz P, Pallardó FV.

Free Radic Biol Med. 2013 Dec;65:347-59. doi: 10.1016/j.freeradbiomed.2013.07.001. Epub 2013 Jul 9.

PMID:
23850970
[PubMed - in process]
11.

High accumulation of PCDD, PCDF, and PCB congeners in marine mammals from Brazil: a serious PCB problem.

Dorneles PR, Sanz P, Eppe G, Azevedo AF, Bertozzi CP, Martínez MA, Secchi ER, Barbosa LA, Cremer M, Alonso MB, Torres JP, Lailson-Brito J, Malm O, Eljarrat E, Barceló D, Das K.

Sci Total Environ. 2013 Oct 1;463-464:309-18. doi: 10.1016/j.scitotenv.2013.06.015. Epub 2013 Jul 2.

PMID:
23827355
[PubMed - indexed for MEDLINE]
12.

Uniparental markers in Italy reveal a sex-biased genetic structure and different historical strata.

Boattini A, Martinez-Cruz B, Sarno S, Harmant C, Useli A, Sanz P, Yang-Yao D, Manry J, Ciani G, Luiselli D, Quintana-Murci L, Comas D, Pettener D; Genographic Consortium.

PLoS One. 2013 May 29;8(5):e65441. doi: 10.1371/journal.pone.0065441. Print 2013.

PMID:
23734255
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

AMPKβ subunits: more than just a scaffold in the formation of AMPK complex.

Sanz P, Rubio T, Garcia-Gimeno MA.

FEBS J. 2013 Aug;280(16):3723-33. doi: 10.1111/febs.12364. Epub 2013 Jun 24. Review.

PMID:
23721051
[PubMed - indexed for MEDLINE]
14.

Glycogenic activity of R6, a protein phosphatase 1 regulatory subunit, is modulated by the laforin-malin complex.

Rubio-Villena C, Garcia-Gimeno MA, Sanz P.

Int J Biochem Cell Biol. 2013 Jul;45(7):1479-88. doi: 10.1016/j.biocel.2013.04.019. Epub 2013 Apr 26.

PMID:
23624058
[PubMed - indexed for MEDLINE]
15.

Sumoylation of AMPKβ2 subunit enhances AMP-activated protein kinase activity.

Rubio T, Vernia S, Sanz P.

Mol Biol Cell. 2013 Jun;24(11):1801-11, S1-4. doi: 10.1091/mbc.E12-11-0806. Epub 2013 Apr 3.

PMID:
23552691
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Effects of polymorphisms in vitamin E-, vitamin C-, and glutathione peroxidase-related genes on serum biomarkers and associations with glaucoma.

Zanon-Moreno V, Asensio-Marquez EM, Ciancotti-Oliver L, Garcia-Medina JJ, Sanz P, Ortega-Azorin C, Pinazo-Duran MD, Ordovás JM, Corella D.

Mol Vis. 2013;19:231-42. Epub 2013 Feb 3.

PMID:
23401652
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

[Magnetic hospitals: nursing care elevated to excellence].

Alicarte A, Arce Y, Cadena R, Comallonga T, Comas E, Fornas C, Fusté T, Gómez E, Lizarralde J, Moreno C, Miranda J, Monfort G, Roel A, Sallés M, San Cristóbal L, Sanz P, Valverde M, Zabalegui A.

Rev Enferm. 2012 Nov;35(11):73-4. Spanish. No abstract available.

PMID:
23330336
[PubMed - indexed for MEDLINE]
18.

Glucose-dependent regulation of AMP-activated protein kinase in MIN6 beta cells is not affected by the protein kinase A pathway.

Garcia-Haro L, Garcia-Gimeno MA, Neumann D, Beullens M, Bollen M, Sanz P.

FEBS Lett. 2012 Nov 30;586(23):4241-7. doi: 10.1016/j.febslet.2012.10.032. Epub 2012 Oct 29.

PMID:
23116618
[PubMed - indexed for MEDLINE]
Free Article
19.

Dechlorane-related compounds in franciscana dolphin (Pontoporia blainvillei) from southeastern and southern coast of Brazil.

de la Torre A, Alonso MB, Martínez MA, Sanz P, Shen L, Reiner EJ, Lailson-Brito J, Torres JP, Bertozzi C, Marigo J, Barbosa L, Cremer M, Secchi E, Malm O, Eljarrat E, Barceló D.

Environ Sci Technol. 2012 Nov 20;46(22):12364-72. doi: 10.1021/es302934p. Epub 2012 Oct 12.

PMID:
23016984
[PubMed - indexed for MEDLINE]
20.

Y-chromosome analysis in individuals bearing the Basarab name of the first dynasty of Wallachian kings.

Martinez-Cruz B, Ioana M, Calafell F, Arauna LR, Sanz P, Ionescu R, Boengiu S, Kalaydjieva L, Pamjav H, Makukh H, Plantinga T, van der Meer JW, Comas D, Netea MG; Genographic Consortium.

PLoS One. 2012;7(7):e41803. Epub 2012 Jul 25.

PMID:
22848614
[PubMed - indexed for MEDLINE]
Free PMC Article

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