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Items: 1 to 50 of 126

1.

MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.

Tenorio J, Alarcón P, Arias P, Ramos FJ, Campistol J, Climent S, García-Miñaur S, Dapía I, Hernández A, Nevado J, Solís M, Ruiz-Pérez VL; Sogri Consortium, Lapunzina P.

Clin Genet. 2019 Jun;95(6):726-731. doi: 10.1111/cge.13504. Epub 2019 Apr 29.

PMID:
30628072
2.

Highly efficient MoOx-free semitransparent perovskite cell for 4 T tandem application improving the efficiency of commercially-available Al-BSF silicon.

Ramos FJ, Jutteau S, Posada J, Bercegol A, Rebai A, Guillemot T, Bodeux R, Schneider N, Loones N, Ory D, Broussillou C, Goaer G, Lombez L, Rousset J.

Sci Rep. 2018 Oct 31;8(1):16139. doi: 10.1038/s41598-018-34432-5.

3.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.

Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC.

Nat Rev Genet. 2018 Oct;19(10):649-666. doi: 10.1038/s41576-018-0031-0. Review.

PMID:
29995837
4.

Involving the European National Human Genetics Societies.

Pignatti PF, Ramos FJ.

Eur J Hum Genet. 2017 Dec;25(s2):S39-S42. doi: 10.1038/ejhg.2017.152. No abstract available.

5.

Correction to: A Phase II Study Evaluating Combined Neoadjuvant Cetuximab and Chemotherapy Followed by Chemoradiotherapy and Concomitant Cetuximab in Locoregional Oesophageal Cancer Patients.

Alsina M, Rivera F, Ramos FJ, Galán M, López R, García-Alfonso P, Alés-Martinez JE, Queralt B, Antón A, Carrato A, Grávalos C, Méndez-Vidal MJ, López C, de Mena IR, Tabernero J, Giralt J, Aranda E; Spanish Cooperative Group for the Treatment of Digestive Tumors (TTD) and Grupo de Investigación Clínica en Oncología Radioterápica (GICOR).

Target Oncol. 2018 Feb;13(1):79. doi: 10.1007/s11523-017-0544-z.

PMID:
29243205
6.

A phase II Study Evaluating Combined Neoadjuvant Cetuximab and Chemotherapy Followed by Chemoradiotherapy and Concomitant Cetuximab in Locoregional Oesophageal Cancer Patients.

Alsina M, Rivera F, Ramos FJ, Galán M, López R, García-Alfonso P, Alés-Martinez JE, Queralt B, Antón A, Carrato A, Grávalos C, Méndez-Vidal MJ, López C, de Mena IR, Tabernero J, Giralt J, Aranda E; Spanish Cooperative Group for the Treatment of Digestive Tumors (TTD) and Grupo de Investigación Clínica en Oncología Radioterápica (GICOR).

Target Oncol. 2018 Feb;13(1):69-78. doi: 10.1007/s11523-017-0536-z. Erratum in: Target Oncol. 2017 Dec 14;:.

PMID:
29128908
7.

Two-step ATP-driven opening of cohesin head.

Marcos-Alcalde Í, Mendieta-Moreno JI, Puisac B, Gil-Rodríguez MC, Hernández-Marcos M, Soler-Polo D, Ramos FJ, Ortega J, Pié J, Mendieta J, Gómez-Puertas P.

Sci Rep. 2017 Jun 12;7(1):3266. doi: 10.1038/s41598-017-03118-9.

8.

Phenotypes and genotypes in individuals with SMC1A variants.

Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff MA, Diderich K, Elting M, van Essen A, FitzPatrick D, Gervasini C, Gillessen-Kaesbach G, Girisha KM, Hilhorst-Hofstee Y, Hopman S, Horn D, Isrie M, Jansen S, Jespersgaard C, Kaiser FJ, Kaur M, Kleefstra T, Krantz ID, Lakeman P, Landlust A, Lessel D, Michot C, Moss J, Noon SE, Oliver C, Parenti I, Pie J, Ramos FJ, Rieubland C, Russo S, Selicorni A, Tümer Z, Vorstenbosch R, Wenger TL, van Balkom I, Piening S, Wierzba J, Hennekam RC.

Am J Med Genet A. 2017 Aug;173(8):2108-2125. doi: 10.1002/ajmg.a.38279. Epub 2017 May 26.

PMID:
28548707
9.

mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome.

Puisac B, Teresa-Rodrigo ME, Hernández-Marcos M, Baquero-Montoya C, Gil-Rodríguez MC, Visnes T, Bot C, Gómez-Puertas P, Kaiser FJ, Ramos FJ, Ström L, Pié J.

Int J Mol Sci. 2017 Feb 23;18(3). pii: E481. doi: 10.3390/ijms18030481.

10.

Extending the Lifetime of Perovskite Solar Cells using a Perfluorinated Dopant.

Salado M, Ramos FJ, Manzanares VM, Gao P, Nazeeruddin MK, Dyson PJ, Ahmad S.

ChemSusChem. 2016 Sep 22;9(18):2708-2714. doi: 10.1002/cssc.201601030. Epub 2016 Aug 24.

PMID:
27554209
11.

A view on clinical genetics and genomics in Spain: of challenges and opportunities.

Pàmpols T, Ramos FJ, Lapunzina P, Gozalo-Salellas I, Pérez-Jurado LA, Pujol A.

Mol Genet Genomic Med. 2016 Jul 18;4(4):376-91. doi: 10.1002/mgg3.232. eCollection 2016 Jul.

12.

Special cases in Cornelia de Lange syndrome: The Spanish experience.

Pié J, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Gil-Rodríguez M, Baquero-Montoya C, Ramos-Cáceres M, Bernal M, Ayerza-Casas A, Bueno I, Gómez-Puertas P, Ramos FJ.

Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):198-205. doi: 10.1002/ajmg.c.31501. Epub 2016 May 10. Review.

PMID:
27164022
13.

Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.

Teresa-Rodrigo ME, Eckhold J, Puisac B, Pozojevic J, Parenti I, Baquero-Montoya C, Gil-Rodríguez MC, Braunholz D, Dalski A, Hernández-Marcos M, Ayerza A, Bernal ML, Ramos FJ, Wieczorek D, Gillessen-Kaesbach G, Pié J, Kaiser FJ.

Biomed Res Int. 2016;2016:8742939. doi: 10.1155/2016/8742939. Epub 2016 Jan 26.

14.

A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone.

Fijalkowski I, Geets E, Steenackers E, Van Hoof V, Ramos FJ, Mortier G, Fortuna AM, Van Hul W, Boudin E.

J Bone Miner Res. 2016 Apr;31(4):874-81. doi: 10.1002/jbmr.2782. Epub 2016 Jan 24.

15.

Unraveling the Role of Monovalent Halides in Mixed-Halide Organic-Inorganic Perovskites.

Deepa M, Ramos FJ, Shivaprasad SM, Ahmad S.

Chemphyschem. 2016 Mar 16;17(6):913-20. doi: 10.1002/cphc.201500717. Epub 2016 Jan 20.

PMID:
26717046
16.

Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.

Parenti I, Gervasini C, Pozojevic J, Wendt KS, Watrin E, Azzollini J, Braunholz D, Buiting K, Cereda A, Engels H, Garavelli L, Glazar R, Graffmann B, Larizza L, Lüdecke HJ, Mariani M, Masciadri M, Pié J, Ramos FJ, Russo S, Selicorni A, Stefanova M, Strom TM, Werner R, Wierzba J, Zampino G, Gillessen-Kaesbach G, Wieczorek D, Kaiser FJ.

Clin Genet. 2016 May;89(5):564-73. doi: 10.1111/cge.12717. Epub 2016 Jan 25.

PMID:
26671848
17.

Cell nonautonomous activation of flavin-containing monooxygenase promotes longevity and health span.

Leiser SF, Miller H, Rossner R, Fletcher M, Leonard A, Primitivo M, Rintala N, Ramos FJ, Miller DL, Kaeberlein M.

Science. 2015 Dec 11;350(6266):1375-1378. doi: 10.1126/science.aac9257. Epub 2015 Nov 19.

18.

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC.

Am J Hum Genet. 2015 Jul 2;97(1):99-110. doi: 10.1016/j.ajhg.2015.05.017. Epub 2015 Jun 25.

19.

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J.

Hum Mutat. 2015 Apr;36(4):454-62. doi: 10.1002/humu.22761. Epub 2015 Mar 17.

20.

Intensive care unit visitation policies in Brazil: a multicenter survey.

Ramos FJ, Fumis RR, de Azevedo LC, Schettino G.

Rev Bras Ter Intensiva. 2014 Oct-Dec;26(4):339-46. doi: 10.5935/0103-507X.20140052. English, Portuguese.

21.

Clinical utility gene card for: Cornelia de Lange syndrome.

Ramos FJ, Puisac B, Baquero-Montoya C, Gil-Rodríguez MC, Bueno I, Deardorff MA, Hennekam RC, Kaiser FJ, Krantz ID, Musio A, Selicorni A, FitzPatrick DR, Pié J.

Eur J Hum Genet. 2015 Oct;23(10). doi: 10.1038/ejhg.2014.270. Epub 2014 Dec 24. No abstract available.

22.

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.

Huemer M, Bürer C, Ješina P, Kožich V, Landolt MA, Suormala T, Fowler B, Augoustides-Savvopoulou P, Blair E, Brennerova K, Broomfield A, De Meirleir L, Gökcay G, Hennermann J, Jardine P, Koch J, Lorenzl S, Lotz-Havla AS, Noss J, Parini R, Peters H, Plecko B, Ramos FJ, Schlune A, Tsiakas K, Zerjav Tansek M, Baumgartner MR.

J Inherit Metab Dis. 2015 Sep;38(5):957-67. doi: 10.1007/s10545-014-9803-7. Epub 2014 Dec 20.

PMID:
25526710
23.

Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.

Tejada MI, Glover G, Martínez F, Guitart M, de Diego-Otero Y, Fernández-Carvajal I, Ramos FJ, Hernández-Chico C, Pintado E, Rosell J, Calvo MT, Ayuso C, Ramos-Arroyo MA, Maortua H, Milà M.

Biomed Res Int. 2014;2014:195793. doi: 10.1155/2014/195793. Epub 2014 May 28.

24.

Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome.

Teresa-Rodrigo ME, Eckhold J, Puisac B, Dalski A, Gil-Rodríguez MC, Braunholz D, Baquero C, Hernández-Marcos M, de Karam JC, Ciero M, Santos-Simarro F, Lapunzina P, Wierzba J, Casale CH, Ramos FJ, Gillessen-Kaesbach G, Kaiser FJ, Pié J.

Int J Mol Sci. 2014 Jun 10;15(6):10350-64. doi: 10.3390/ijms150610350.

25.

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.

Baquero-Montoya C, Gil-Rodríguez MC, Hernández-Marcos M, Teresa-Rodrigo ME, Vicente-Gabas A, Bernal ML, Casale CH, Bueno-Lozano G, Bueno-Martínez I, Queralt E, Villa O, Hernando-Davalillo C, Armengol L, Gómez-Puertas P, Puisac B, Selicorni A, Ramos FJ, Pié J.

Eur J Med Genet. 2014 Sep;57(9):503-9. doi: 10.1016/j.ejmg.2014.05.006. Epub 2014 May 27.

PMID:
24874887
26.

Perovskite solar cells based on nanocolumnar plasma-deposited ZnO thin films.

Ramos FJ, López-Santos MC, Guillén E, Nazeeruddin MK, Grätzel M, Gonzalez-Elipe AR, Ahmad S.

Chemphyschem. 2014 Apr 14;15(6):1148-53. doi: 10.1002/cphc.201301215. Epub 2014 Mar 18.

PMID:
24643984
27.

Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.

Baquero-Montoya C, Gil-Rodríguez MC, Braunholz D, Teresa-Rodrigo ME, Obieglo C, Gener B, Schwarzmayr T, Strom TM, Gómez-Puertas P, Puisac B, Gillessen-Kaesbach G, Musio A, Ramos FJ, Kaiser FJ, Pié J.

Clin Genet. 2014 Dec;86(6):595-7. doi: 10.1111/cge.12333. Epub 2014 Jan 26. No abstract available.

PMID:
24635725
28.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium, Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics, Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA.

Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8.

29.

mTOR inhibition alleviates mitochondrial disease in a mouse model of Leigh syndrome.

Johnson SC, Yanos ME, Kayser EB, Quintana A, Sangesland M, Castanza A, Uhde L, Hui J, Wall VZ, Gagnidze A, Oh K, Wasko BM, Ramos FJ, Palmiter RD, Rabinovitch PS, Morgan PG, Sedensky MM, Kaeberlein M.

Science. 2013 Dec 20;342(6165):1524-8. doi: 10.1126/science.1244360. Epub 2013 Nov 14.

30.

Phase I pharmacokinetic and pharmacodynamic study of the first-in-class spliceosome inhibitor E7107 in patients with advanced solid tumors.

Eskens FA, Ramos FJ, Burger H, O'Brien JP, Piera A, de Jonge MJ, Mizui Y, Wiemer EA, Carreras MJ, Baselga J, Tabernero J.

Clin Cancer Res. 2013 Nov 15;19(22):6296-304. doi: 10.1158/1078-0432.CCR-13-0485. Epub 2013 Aug 27.

31.

Could a patient with SMC1A duplication be classified as a human cohesinopathy?

Baquero-Montoya C, Gil-Rodríguez MC, Teresa-Rodrigo ME, Hernández-Marcos M, Bueno-Lozano G, Bueno-Martínez I, Remeseiro S, Fernández-Hernández R, Bassecourt-Serra M, Rodríguez de Alba M, Queralt E, Losada A, Puisac B, Ramos FJ, Pié J.

Clin Genet. 2014 May;85(5):446-51. doi: 10.1111/cge.12194. Epub 2013 Jun 17.

PMID:
23683030
32.

A randomized phase II study of PEP02 (MM-398), irinotecan or docetaxel as a second-line therapy in patients with locally advanced or metastatic gastric or gastro-oesophageal junction adenocarcinoma.

Roy AC, Park SR, Cunningham D, Kang YK, Chao Y, Chen LT, Rees C, Lim HY, Tabernero J, Ramos FJ, Kujundzic M, Cardic MB, Yeh CG, de Gramont A.

Ann Oncol. 2013 Jun;24(6):1567-73. doi: 10.1093/annonc/mdt002. Epub 2013 Feb 13.

PMID:
23406728
33.

Polymorphisms involved in folate metabolism pathways and the risk of the development of childhood acute leukemia.

Silva RM, Fontes AC, Silva KA, Sant'Ana TA, Ramos FJ, Marques-Salles Tde J, Pombo-de-Oliveira MS, Muniz MT.

Genet Test Mol Biomarkers. 2013 Feb;17(2):147-52. doi: 10.1089/gtmb.2012.0174.

PMID:
23336575
34.

Ocular manifestations (strabismus: duane syndrome; and retinal nerve fiber hypoplasia) in okihiro syndrome (duane radial ray syndrome).

Garcia-Martin E, Pinilla I, Almarcegui C, Fernandez J, Engle EC, Ramos FJ.

Binocul Vis Strabolog Q Simms Romano. 2012;27(4):235-42.

35.

Elevated MTORC1 signaling and impaired autophagy.

Ramos FJ, Kaeberlein M, Kennedy BK.

Autophagy. 2013 Jan;9(1):108-9. doi: 10.4161/auto.22401. Epub 2012 Oct 12.

36.

Rapamycin reverses elevated mTORC1 signaling in lamin A/C-deficient mice, rescues cardiac and skeletal muscle function, and extends survival.

Ramos FJ, Chen SC, Garelick MG, Dai DF, Liao CY, Schreiber KH, MacKay VL, An EH, Strong R, Ladiges WC, Rabinovitch PS, Kaeberlein M, Kennedy BK.

Sci Transl Med. 2012 Jul 25;4(144):144ra103. doi: 10.1126/scitranslmed.3003802.

37.

Human Variome Project country nodes: documenting genetic information within a country.

Patrinos GP, Smith TD, Howard H, Al-Mulla F, Chouchane L, Hadjisavvas A, Hamed SA, Li XT, Marafie M, Ramesar RS, Ramos FJ, de Ravel T, El-Ruby MO, Shrestha TR, Sobrido MJ, Tadmouri G, Witsch-Baumgartner M, Zilfalil BA, Auerbach AD, Carpenter K, Cutting GR, Dung VC, Grody W, Hasler J, Jorde L, Kaput J, Macek M, Matsubara Y, Padilla C, Robinson H, Rojas-Martinez A, Taylor GR, Vihinen M, Weber T, Burn J, Qi M, Cotton RG, Rimoin D; International Confederation of Countries Advisory Council.

Hum Mutat. 2012 Nov;33(11):1513-9. doi: 10.1002/humu.22147. Epub 2012 Jul 18.

PMID:
22753370
38.

Ageing: A healthy diet for stem cells.

Ramos FJ, Kaeberlein M.

Nature. 2012 Jun 27;486(7404):477-8. doi: 10.1038/486477a. No abstract available.

PMID:
22739309
39.

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.

40.

De novo use of everolimus with elimination or minimization of cyclosporine in renal transplant recipients.

Novoa PA, Grinyó JM, Ramos FJ, Errasti P, Franco A, Aldana G, Pefaur J, Marti-Cuadros AM, Otero AB, Saval N, Oppenheimer F.

Transplant Proc. 2011 Nov;43(9):3331-9. doi: 10.1016/j.transproceed.2011.10.032.

PMID:
22099791
41.

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
42.

A phase I study of sunitinib in combination with FOLFIRI in patients with untreated metastatic colorectal cancer.

Starling N, Vázquez-Mazón F, Cunningham D, Chau I, Tabernero J, Ramos FJ, Iveson TJ, Saunders MP, Aranda E, Countouriotis AM, Ruiz-Garcia A, Wei G, Tursi JM, Guillen-Ponce C, Carrato A.

Ann Oncol. 2012 Jan;23(1):119-27. doi: 10.1093/annonc/mdr046. Epub 2011 Mar 29.

PMID:
21447616
43.

Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.

Jacquemont S, Curie A, des Portes V, Torrioli MG, Berry-Kravis E, Hagerman RJ, Ramos FJ, Cornish K, He Y, Paulding C, Neri G, Chen F, Hadjikhani N, Martinet D, Meyer J, Beckmann JS, Delange K, Brun A, Bussy G, Gasparini F, Hilse T, Floesser A, Branson J, Bilbe G, Johns D, Gomez-Mancilla B.

Sci Transl Med. 2011 Jan 5;3(64):64ra1. doi: 10.1126/scitranslmed.3001708.

44.

New ocular findings in two sisters with Yunis-Varón syndrome and literature review.

Corona-Rivera JR, Romo-Huerta CO, López-Marure E, Ramos FJ, Estrada-Padilla SA, Zepeda-Romero LC.

Eur J Med Genet. 2011 Jan-Feb;54(1):76-81. doi: 10.1016/j.ejmg.2010.09.013. Epub 2010 Oct 14. Review.

PMID:
20932945
45.

Regulation of mRNA translation as a conserved mechanism of longevity control.

Mehta R, Chandler-Brown D, Ramos FJ, Shamieh LS, Kaeberlein M.

Adv Exp Med Biol. 2010;694:14-29. Review.

PMID:
20886753
46.

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.

Rohatgi S, Clark D, Kline AD, Jackson LG, Pie J, Siu V, Ramos FJ, Krantz ID, Deardorff MA.

Am J Med Genet A. 2010 Jul;152A(7):1641-53. doi: 10.1002/ajmg.a.33441.

47.

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.

48.

Cornelia de Lange syndrome: extending the physical and psychological phenotype.

Oliver C, Bedeschi MF, Blagowidow N, Carrico CS, Cereda A, Fitzpatrick DR, Gervasini C, Griffith GM, Kline AD, Marchisio P, Moss J, Ramos FJ, Selicorni A, Tunnicliffe P, Wierzba J, Hennekam RC.

Am J Med Genet A. 2010 May;152A(5):1127-35. doi: 10.1002/ajmg.a.33363. No abstract available.

PMID:
20425817
49.

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.

50.

Pharmacogenomic and pharmacoproteomic studies of cetuximab in metastatic colorectal cancer: biomarker analysis of a phase I dose-escalation study.

Tabernero J, Cervantes A, Rivera F, Martinelli E, Rojo F, von Heydebreck A, Macarulla T, Rodriguez-Braun E, Eugenia Vega-Villegas M, Senger S, Ramos FJ, Roselló S, Celik I, Stroh C, Baselga J, Ciardiello F.

J Clin Oncol. 2010 Mar 1;28(7):1181-9. doi: 10.1200/JCO.2009.22.6043. Epub 2010 Jan 25.

PMID:
20100964

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