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Items: 1 to 20 of 152

1.

Genetics of enteric neuropathies.

Brosens E, Burns AJ, Brooks AS, Matera I, Borrego S, Ceccherini I, Tam PK, García-Barceló MM, Thapar N, Benninga MA, Hofstra RM, Alves MM.

Dev Biol. 2016 Jul 14. pii: S0012-1606(16)30362-1. doi: 10.1016/j.ydbio.2016.07.008. [Epub ahead of print] Review.

PMID:
27426273
2.

Epigenetics in ENS development and Hirschsprung disease.

Torroglosa A, Alves MM, Fernández RM, Antiñolo G, Hofstra RM, Borrego S.

Dev Biol. 2016 Jun 16. pii: S0012-1606(16)30157-9. doi: 10.1016/j.ydbio.2016.06.017. [Epub ahead of print] Review.

PMID:
27321561
3.

G534E Variant in HABP2 and Nonmedullary Thyroid Cancer.

Ruiz-Ferrer M, Fernández RM, Navarro E, Antiñolo G, Borrego S.

Thyroid. 2016 Jul;26(7):987-8. doi: 10.1089/thy.2016.0193. No abstract available.

PMID:
27245704
4.

Metabolic changes associated with methionine stress sensitivity in MDA-MB-468 breast cancer cells.

Borrego SL, Fahrmann J, Datta R, Stringari C, Grapov D, Zeller M, Chen Y, Wang P, Baldi P, Gratton E, Fiehn O, Kaiser P.

Cancer Metab. 2016 May 2;4:9. doi: 10.1186/s40170-016-0148-6. eCollection 2016.

5.

Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.

Bravo-Gil N, Méndez-Vidal C, Romero-Pérez L, González-Del Pozo M, Rodríguez-de la Rúa E, Dopazo J, Borrego S, Antiñolo G.

Sci Rep. 2016 Apr 1;6:23910. doi: 10.1038/srep23910.

6.

Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.

Vieitez I, Gallano P, González-Quereda L, Borrego S, Marcos I, Millán JM, Jairo T, Prior C, Molano J, Trujillo-Tiebas MJ, Gallego-Merlo J, García-Barcina M, Fenollar M, Navarro C.

Neurologia. 2016 Mar 8. pii: S0213-4853(16)00021-9. doi: 10.1016/j.nrl.2015.12.009. [Epub ahead of print] English, Spanish.

7.

Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung disease.

Enguix-Riego MV, Torroglosa A, Fernández RM, Moya-Jiménez MJ, de Agustín JC, Antiñolo G, Borrego S.

Sci Rep. 2016 Feb 16;6:21160. doi: 10.1038/srep21160.

8.

[Influence of magnetic field on the growth of pathogen microorganisms isolated from the indoor environment at the Archivo Nacional de la República de Cuba].

Anaya M, Barbará E, Padrón J, Borrego SF, Valdés O, Molina A.

Biomedica. 2015 Jul-Sep;35(3):325-36. doi: 10.7705/biomedica.v35i3.2569. Spanish.

9.

Nilotinib as a risk factor for ischaemic stroke: A series of three cases.

Gómez-Galván JB, Borrego S, Tovar N, Llull L.

Neurologia. 2016 Jan 6. pii: S0213-4853(15)00246-7. doi: 10.1016/j.nrl.2015.11.003. [Epub ahead of print] English, Spanish. No abstract available.

10.

Recurrent dural arteriovenous fistulas in a patient with Behçet's disease.

Falgàs N, Borrego S, Llull L, Espinosa G, López-Rueda A, Blasco J, Cervera A.

Neurologia. 2016 Jan 13. pii: S0213-4853(15)00262-5. doi: 10.1016/j.nrl.2015.11.006. [Epub ahead of print] English, Spanish. No abstract available.

11.

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.

Dopazo J, Amadoz A, Bleda M, Garcia-Alonso L, Alemán A, García-García F, Rodriguez JA, Daub JT, Muntané G, Rueda A, Vela-Boza A, López-Domingo FJ, Florido JP, Arce P, Ruiz-Ferrer M, Méndez-Vidal C, Arnold TE, Spleiss O, Alvarez-Tejado M, Navarro A, Bhattacharya SS, Borrego S, Santoyo-López J, Antiñolo G.

Mol Biol Evol. 2016 May;33(5):1205-18. doi: 10.1093/molbev/msw005. Epub 2016 Jan 13.

12.

Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations.

Fernández RM, Sánchez J, García-Díaz L, Peláez-Nora Y, González-Meneses A, Antiñolo G, Borrego S.

Am J Med Genet A. 2016 May;170(5):1268-73. doi: 10.1002/ajmg.a.37559. Epub 2016 Jan 14.

PMID:
26762557
13.

Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain.

Fernández RM, Peciña A, Lozano-Arana MD, Sánchez B, García-Lozano JC, Borrego S, Antiñolo G.

Biomed Res Int. 2015;2015:965839. doi: 10.1155/2015/965839. Epub 2015 Dec 2.

14.

Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas.

Luzón-Toro B, Bleda M, Navarro E, García-Alonso L, Ruiz-Ferrer M, Medina I, Martín-Sánchez M, Gonzalez CY, Fernández RM, Torroglosa A, Antiñolo G, Dopazo J, Borrego S.

BMC Med Genomics. 2015 Dec 21;8:83. doi: 10.1186/s12920-015-0160-7.

15.

Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease.

Luzón-Toro B, Gui H, Ruiz-Ferrer M, Sze-Man Tang C, Fernández RM, Sham PC, Torroglosa A, Kwong-Hang Tam P, Espino-Paisán L, Cherny SS, Bleda M, Enguix-Riego Mdel V, Dopazo J, Antiñolo G, García-Barceló MM, Borrego S.

Sci Rep. 2015 Nov 12;5:16473. doi: 10.1038/srep16473.

16.

Airborne microorganisms cultivable on naturally ventilated document repositories of the National Archive of Cuba.

Borrego S, Perdomo I.

Environ Sci Pollut Res Int. 2016 Feb;23(4):3747-57. doi: 10.1007/s11356-015-5585-1. Epub 2015 Oct 24.

PMID:
26498813
17.

The NER-related gene GTF2H5 predicts survival in high-grade serous ovarian cancer patients.

Gayarre J, Kamieniak MM, Cazorla-Jiménez A, Muñoz-Repeto I, Borrego S, García-Donas J, Hernando S, Robles-Díaz L, García-Bueno JM, Ramón Y Cajal T, Hernández-Agudo E, Heredia Soto V, Márquez-Rodas I, Echarri MJ, Lacambra-Calvet C, Sáez R, Cusidó M, Redondo A, Paz-Ares L, Hardisson D, Mendiola M, Palacios J, Benítez J, García MJ.

J Gynecol Oncol. 2016 Jan;27(1):e7. doi: 10.3802/jgo.2016.27.e7. Epub 2015 Nov 27.

18.

Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients.

Luzón-Toro B, Espino-Paisán L, Fernández RM, Martín-Sánchez M, Antiñolo G, Borrego S.

BMC Med Genet. 2015 Oct 5;16:89. doi: 10.1186/s12881-015-0235-5.

19.

Experience of Preimplantation Genetic Diagnosis for Hemophilia at the University Hospital Virgen Del Rocío in Spain: Technical and Clinical Overview.

Fernández RM, Peciña A, Sánchez B, Lozano-Arana MD, García-Lozano JC, Pérez-Garrido R, Núñez R, Borrego S, Antiñolo G.

Biomed Res Int. 2015;2015:406096. doi: 10.1155/2015/406096. Epub 2015 Jul 16.

20.

Plasma levels of oral risperidone during enteral nutrition in a pregnant schizophrenic patient.

Oriolo G, Barbosa L, Imaz ML, Garcia L, Borrego S, Parellada E.

Ther Adv Psychopharmacol. 2015 Apr;5(2):133-7. doi: 10.1177/2045125314567115. No abstract available.

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