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Items: 1 to 20 of 142

1.

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.

Matalonga L, Bravo M, Serra-Peinado C, García-Pelegrí E, Ugarteburu O, Vidal S, Llambrich M, Quintana E, Fuster-Jorge P, Gonzalez-Bravo MN, Beltran S, Dopazo J, Garcia-Garcia F, Foulquier F, Matthijs G, Mills P, Ribes A, Egea G, Briones P, Tort F, Girós M.

Hum Mutat. 2016 Nov 10. doi: 10.1002/humu.23145. [Epub ahead of print]

PMID:
27862579
2.

Shared Oncogenic Pathways Implicated in Both Virus-Positive and UV-Induced Merkel Cell Carcinomas.

González-Vela MD, Curiel-Olmo S, Derdak S, Beltran S, Santibañez M, Martínez N, Castillo-Trujillo A, Gut M, Sánchez-Pacheco R, Almaraz C, Cereceda L, Llombart B, Agraz-Doblas A, Revert-Arce J, López Guerrero JA, Mollejo M, Marrón PI, Ortiz-Romero P, Fernandez-Cuesta L, Varela I, Gut I, Cerroni L, Piris MÁ, Vaqué JP.

J Invest Dermatol. 2016 Sep 1. pii: S0022-202X(16)32349-1. doi: 10.1016/j.jid.2016.08.015. [Epub ahead of print]

3.

Growth phase-dependent control of R27 conjugation is mediated by the interplay between the plasmid-encoded regulatory circuit TrhR/TrhY-HtdA and the cAMP regulon.

Gibert M, Paytubi S, Beltrán S, Juárez A, Balsalobre C, Madrid C.

Environ Microbiol. 2016 Oct 21. doi: 10.1111/1462-2920.13579. [Epub ahead of print]

PMID:
27768816
4.

Regression of vascular calcification in a parathyroidectomized patient on dialysis with untreated hypocalcemia over 12-year follow-up
.

Molina P, Górriz JL, Beltrán S, Vizcaino B, Pallardo LM.

Clin Nephrol. 2016 Dec;86 (2016)(12):333-339.

PMID:
27719736
5.

What is the optimal level of vitamin D in non-dialysis chronic kidney disease population?

Molina P, Górriz JL, Molina MD, Beltrán S, Vizcaíno B, Escudero V, Kanter J, Ávila AI, Bover J, Fernández E, Nieto J, Cigarrán S, Gruss E, Fernández-Juárez G, Martínez-Castelao A, Navarro-González JF, Romero R, Pallardó LM.

World J Nephrol. 2016 Sep 6;5(5):471-81. doi: 10.5527/wjn.v5.i5.471.

6.

From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing.

Laurie S, Fernandez-Callejo M, Marco-Sola S, Trotta JR, Camps J, Chacón A, Espinosa A, Gut M, Gut I, Heath S, Beltran S.

Hum Mutat. 2016 Dec;37(12):1263-1271. doi: 10.1002/humu.23114.

7.

Whole exome sequencing analysis reveals TRPV3 as a risk factor for cardioembolic stroke.

Carrera C, Jiménez-Conde J, Derdak S, Rabionet K, Vives-Bauzá C, Soriano-Tárrega C, Giralt-Steinhauer E, Mola-Caminal M, Diaz-Navarro RM, Tur S, Muiño E, Gallego-Fabrega C, Beltran S, Roquer J, Ruiz A, Sotolongo-Grau O, Krupinski J, Lee JM, Cruchaga C, Delgado P, Malik R, Worrall BB, Seshadri S, Montaner J, Fernández-Cadenas I; Metastroke Consortium, ISGC Consortium and Genestroke Consortium..

Thromb Haemost. 2016 Nov 30;116(6):1165-1171.

PMID:
27604134
8.

Identification of protein-damaging mutations in 10 swine taste receptors and 191 appetite-reward genes.

Clop A, Sharaf A, Castelló A, Ramos-Onsins S, Cirera S, Mercadé A, Derdak S, Beltran S, Huisman A, Fredholm M, van As P, Sánchez A.

BMC Genomics. 2016 Aug 26;17:685. doi: 10.1186/s12864-016-2972-z.

9.

Neisseria meningitidis and Streptococcus pneumoniae as leading causes of pediatric bacterial meningitis in nine Mexican hospitals following 3 years of active surveillance.

Chacon-Cruz E, Martinez-Longoria CA, Llausas-Magana E, Luevanos-Velazquez A, Vazquez-Narvaez JA, Beltran S, Limon-Rojas AE, Urtiz-Jeronimo F, Castaneda-Narvaez JL, Otero-Mendoza F, Aguilar-Del Real F, Rodriguez-Chagoyan J, Rivas-Landeros RM, Volker-Soberanes ML, Hinojosa-Robles RM, Arzate-Barbosa P, Aviles-Benitez LK, Elenes-Zamora FI, Becka CM, Ruttimann R.

Ther Adv Vaccines. 2016 Jan;4(1-2):15-9. doi: 10.1177/2051013616650158.

10.

The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.

Esteban-Jurado C, Franch-Expósito S, Muñoz J, Ocaña T, Carballal S, López-Cerón M, Cuatrecasas M, Vila-Casadesús M, Lozano JJ, Serra E, Beltran S, Brea-Fernández A, Ruiz-Ponte C, Castells A, Bujanda L, Garre P, Caldés T, Cubiella J, Balaguer F, Castellví-Bel S.

Eur J Hum Genet. 2016 Oct;24(10):1501-5. doi: 10.1038/ejhg.2016.44.

11.

Somatic Embryonic FGFR2 Mutations in Keratinocytic Epidermal Nevi.

Toll A, Fernández LC, Pons T, Groesser L, Sagrera A, Carrillo-de Santa Pau E, Vicente A, Baselga E, Vázquez M, Beltrán S, Pisano DG, Rueda D, Gut M, Pujol RM, Hafner C, Gut I, Valencia A, Real FX.

J Invest Dermatol. 2016 Aug;136(8):1718-21. doi: 10.1016/j.jid.2016.03.040. No abstract available.

PMID:
27103312
12.

Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.

Vargas-Poussou R, Mansour-Hendili L, Baron S, Bertocchio JP, Travers C, Simian C, Treard C, Baudouin V, Beltran S, Broux F, Camard O, Cloarec S, Cormier C, Debussche X, Dubosclard E, Eid C, Haymann JP, Kiando SR, Kuhn JM, Lefort G, Linglart A, Lucas-Pouliquen B, Macher MA, Maruani G, Ouzounian S, Polak M, Requeda E, Robier D, Silve C, Souberbielle JC, Tack I, Vezzosi D, Jeunemaitre X, Houillier P.

J Clin Endocrinol Metab. 2016 May;101(5):2185-95. doi: 10.1210/jc.2015-3442.

PMID:
26963950
13.

The expression of heterologous MAM-7 in Lactobacillus rhamnosus reduces its intrinsic capacity to inhibit colonization of pathogen Vibrio parahaemolyticus in vitro.

Beltran S, Munoz-Bergmann CA, Elola-Lopez A, Quintana J, Segovia C, Trombert AN.

Biol Res. 2016 Jan 7;49:2. doi: 10.1186/s40659-015-0064-1.

14.

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

Alioto TS, Buchhalter I, Derdak S, Hutter B, Eldridge MD, Hovig E, Heisler LE, Beck TA, Simpson JT, Tonon L, Sertier AS, Patch AM, Jäger N, Ginsbach P, Drews R, Paramasivam N, Kabbe R, Chotewutmontri S, Diessl N, Previti C, Schmidt S, Brors B, Feuerbach L, Heinold M, Gröbner S, Korshunov A, Tarpey PS, Butler AP, Hinton J, Jones D, Menzies A, Raine K, Shepherd R, Stebbings L, Teague JW, Ribeca P, Giner FC, Beltran S, Raineri E, Dabad M, Heath SC, Gut M, Denroche RE, Harding NJ, Yamaguchi TN, Fujimoto A, Nakagawa H, Quesada V, Valdés-Mas R, Nakken S, Vodák D, Bower L, Lynch AG, Anderson CL, Waddell N, Pearson JV, Grimmond SM, Peto M, Spellman P, He M, Kandoth C, Lee S, Zhang J, Létourneau L, Ma S, Seth S, Torrents D, Xi L, Wheeler DA, López-Otín C, Campo E, Campbell PJ, Boutros PC, Puente XS, Gerhard DS, Pfister SM, McPherson JD, Hudson TJ, Schlesner M, Lichter P, Eils R, Jones DT, Gut IG.

Nat Commun. 2015 Dec 9;6:10001. doi: 10.1038/ncomms10001.

15.

[Characterization of patients who died of invasive pneumococcal disease in the child population of Bogota, Colombia].

Rojas JP, Leal AL, Patiño J, Montañez A, Camacho G, Beltrán S, Bonilla C, Barrero R, Mariño C, Ramos N; Grupo de estudio de Enfermedad Neumocócica en Colombia-Neumocolombia..

Rev Chil Pediatr. 2016 Jan-Feb;87(1):48-52. doi: 10.1016/j.rchipe.2015.10.005. Spanish.

16.

[TBK1 gene stresses the major role of autophagy in ALS].

Corcia P, Beltran S, Vourc'h P, Meininger V, Couratier P.

Rev Neurol (Paris). 2015 Nov;171(11):747-9. doi: 10.1016/j.neurol.2015.10.004. French. No abstract available.

PMID:
26573965
17.

Ultraviolet and extreme ultraviolet spectroscopy of the solar corona at the Naval Research Laboratory.

Moses JD, Ko YK, Laming JM, Provornikova EA, Strachan L, Beltran ST.

Appl Opt. 2015 Nov 1;54(31):F222-31. doi: 10.1364/AO.54.00F222.

PMID:
26560611
18.

Biomarkers in amyotrophic lateral sclerosis: combining metabolomic and clinical parameters to define disease progression.

Blasco H, Nadal-Desbarats L, Pradat PF, Gordon PH, Madji Hounoum B, Patin F, Veyrat-Durebex C, Mavel S, Beltran S, Emond P, Andres CR, Corcia P.

Eur J Neurol. 2016 Feb;23(2):346-53. doi: 10.1111/ene.12851.

PMID:
26508442
19.

Medical treatments of elderly, French patients with type 2 diabetes: results at inclusion in the GERODIAB Cohort.

Doucet JA, Bauduceau B, Le Floch JP, Verny C; SFD/SFGG Intergroup..

Fundam Clin Pharmacol. 2016 Feb;30(1):76-81. doi: 10.1111/fcp.12160.

PMID:
26478566
20.

Runs of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horses.

Metzger J, Karwath M, Tonda R, Beltran S, Águeda L, Gut M, Gut IG, Distl O.

BMC Genomics. 2015 Oct 9;16:764. doi: 10.1186/s12864-015-1977-3.

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