Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 906

1.

Tacrolimus variability is associated with de novo donor-specific antibody development in pediatric renal transplant recipients.

Solomon S, Colovai A, Del Rio M, Hayde N.

Pediatr Nephrol. 2019 Nov 15. doi: 10.1007/s00467-019-04377-6. [Epub ahead of print]

PMID:
31732803
2.

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.

Barcia G, Rio M, Assouline Z, Zangarelli C, Gueguen N, Dumas VD, Marcorelles P, Schiff M, Slama A, Barth M, Hully M, de Lonlay P, Munnich A, Desguerre I, Bonnefont JP, Steffann J, Procaccio V, Boddaert N, Rötig A, Metodiev MD, Ruzzenente B.

Hum Mutat. 2019 Nov 3. doi: 10.1002/humu.23937. [Epub ahead of print]

PMID:
31680380
3.

Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.

Dudoignon B, Huber C, Michot C, Di Rocco F, Girard M, Lyonnet S, Rio M, Rabia SH, Daire VC, Baujat G.

Am J Med Genet A. 2019 Oct 25. doi: 10.1002/ajmg.a.61364. [Epub ahead of print]

PMID:
31654484
4.

Plant antifungal lectins: Mechanism of action and targets on human pathogenic fungi.

Del Rio M, de la Canal L, Regente M.

Curr Protein Pept Sci. 2019 Sep 6. doi: 10.2174/1389203720666190906164448. [Epub ahead of print]

PMID:
31490746
5.

An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Answers.

Duong MD, Rose CM, Reidy KJ, Del Rio M.

Pediatr Nephrol. 2019 Aug 28. doi: 10.1007/s00467-019-04338-z. [Epub ahead of print] No abstract available.

PMID:
31463586
6.

An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Questions.

Duong MD, Rose CM, Reidy KJ, Del Rio M.

Pediatr Nephrol. 2019 Aug 28. doi: 10.1007/s00467-019-04336-1. [Epub ahead of print]

PMID:
31463585
7.

De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures.

Hubert L, Cannata Serio M, Villoing-Gaudé L, Boddaert N, Kaminska A, Rio M, Lyonnet S, Munnich A, Poirier K, Simons M, Besmond C.

J Med Genet. 2019 Aug 22. pii: jmedgenet-2018-105927. doi: 10.1136/jmedgenet-2018-105927. [Epub ahead of print]

PMID:
31439720
8.

Trends of maxillofacial trauma: An update from the prospective register of a multicenter study in emergency services of Chile.

Werlinger F, Villalón M, Duarte V, Acevedo R, Aguilera R, Alcocer D, Badillo O, Briones R, Condal C, Del Río M, García R, Herrera M, Jaramillo J, Merchan F, Nasi M, Osbén R, Rivera A, Riviello S, Rojas P, Vidal C, Rodríguez G, Schild S, Arroyo E, Alvarado MJ, Sepúlveda P, Cortés J.

Med Oral Patol Oral Cir Bucal. 2019 Sep 1;24(5):e588-e594. doi: 10.4317/medoral.22985.

9.

Inner-Sphere Oxygen Activation Promoting Outer-Sphere Nucleophilic Attack on Olefins.

Abril P, Del Río MP, López JA, Lledós A, Ciriano MA, Tejel C.

Chemistry. 2019 Nov 18;25(64):14546-14554. doi: 10.1002/chem.201903068. Epub 2019 Oct 1.

PMID:
31432579
10.

Percutaneous Closure of Mitral Paravalvular Leaks Generating Refractory Heart Failure in the Immediate Postoperative Period.

Unzué L, García E, Díaz-Antón B, Pinto ÁG, Teijeiro R, Del Río MR.

J Invasive Cardiol. 2019 Aug;31(8):E259-E260.

11.

Early, Non-Invasive Sensing of Sustained Hyperglycemia in Mice Using Millimeter-Wave Spectroscopy.

Moreno-Oyervides A, Martín-Mateos P, Aguilera-Morillo MC, Ulisse G, Arriba MC, Durban M, Rio MD, Larcher F, Krozer V, Acedo P.

Sensors (Basel). 2019 Jul 30;19(15). pii: E3347. doi: 10.3390/s19153347.

12.

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.

Margot H, Boursier G, Duflos C, Sanchez E, Amiel J, Andrau JC, Arpin S, Brischoux-Boucher E, Boute O, Burglen L, Caille C, Capri Y, Collignon P, Conrad S, Cormier-Daire V, Delplancq G, Dieterich K, Dollfus H, Fradin M, Faivre L, Fernandes H, Francannet C, Gatinois V, Gerard M, Goldenberg A, Ghoumid J, Grotto S, Guerrot AM, Guichet A, Isidor B, Jacquemont ML, Julia S, Khau Van Kien P, Legendre M, Le Quan Sang KH, Leheup B, Lyonnet S, Magry V, Manouvrier S, Martin D, Morel G, Munnich A, Naudion S, Odent S, Perrin L, Petit F, Philip N, Rio M, Robbe J, Rossi M, Sarrazin E, Toutain A, Van Gils J, Vera G, Verloes A, Weber S, Whalen S, Sanlaville D, Lacombe D, Aladjidi N, Geneviève D.

Genet Med. 2019 Jul 31. doi: 10.1038/s41436-019-0623-x. [Epub ahead of print]

PMID:
31363182
13.

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients.

Guerrero-Aspizua S, Conti CJ, Escamez MJ, Castiglia D, Zambruno G, Youssefian L, Vahidnezhad H, Requena L, Itin P, Tadini G, Yordanova I, Martin L, Uitto J, Has C, Del Rio M.

Orphanet J Rare Dis. 2019 Jul 24;14(1):183. doi: 10.1186/s13023-019-1158-6.

14.

CD160 serves as a negative regulator of NKT cells in acute hepatic injury.

Kim TJ, Park G, Kim J, Lim SA, Kim J, Im K, Shin MH, Fu YX, Del Rio ML, Rodriguez-Barbosa JI, Yee C, Suh KS, Kim SJ, Ha SJ, Lee KM.

Nat Commun. 2019 Jul 22;10(1):3258. doi: 10.1038/s41467-019-10320-y.

15.

Dose profile evaluation in digital breast tomosynthesis exposition using radiochromic film.

Flores MB, Mourão AP, Oliveira FA, Del Río MC.

Appl Radiat Isot. 2019 Oct;152:140-144. doi: 10.1016/j.apradiso.2019.07.002. Epub 2019 Jul 2. Review.

PMID:
31299451
16.

Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.

Lwin SM, Syed F, Di WL, Kadiyirire T, Liu L, Guy A, Petrova A, Abdul-Wahab A, Reid F, Phillips R, Elstad M, Georgiadis C, Aristodemou S, Lovell PA, McMillan JR, Mee J, Miskinyte S, Titeux M, Ozoemena L, Pramanik R, Serrano S, Rowles R, Maurin C, Orrin E, Martinez-Queipo M, Rashidghamat E, Tziotzios C, Onoufriadis A, Chen M, Chan L, Farzaneh F, Del Rio M, Tolar J, Bauer JW, Larcher F, Antoniou MN, Hovnanian A, Thrasher AJ, Mellerio JE, Qasim W, McGrath JA.

JCI Insight. 2019 Jun 6;4(11). pii: 126243. doi: 10.1172/jci.insight.126243. eCollection 2019 Jun 6.

17.

HVEM, a cosignaling molecular switch, and its interactions with BTLA, CD160 and LIGHT.

Rodriguez-Barbosa JI, Schneider P, Weigert A, Lee KM, Kim TJ, Perez-Simon JA, Del Rio ML.

Cell Mol Immunol. 2019 Jul;16(7):679-682. doi: 10.1038/s41423-019-0241-1. Epub 2019 Jun 3. No abstract available.

PMID:
31160757
18.

Differentiation of mild cognitive impairment using an entorhinal cortex-based test of virtual reality navigation.

Howett D, Castegnaro A, Krzywicka K, Hagman J, Marchment D, Henson R, Rio M, King JA, Burgess N, Chan D.

Brain. 2019 Jun 1;142(6):1751-1766. doi: 10.1093/brain/awz116.

19.

Analytical Validation of Multiplex Biomarker Assay to Stratify Colorectal Cancer into Molecular Subtypes.

Ragulan C, Eason K, Fontana E, Nyamundanda G, Tarazona N, Patil Y, Poudel P, Lawlor RT, Del Rio M, Koo SL, Tan WS, Sclafani F, Begum R, Teixeira Mendes LS, Martineau P, Scarpa A, Cervantes A, Tan IB, Cunningham D, Sadanandam A.

Sci Rep. 2019 May 21;9(1):7665. doi: 10.1038/s41598-019-43492-0.

20.

Clinical and molecular spectrum of CHOPS syndrome.

Raible SE, Mehta D, Bettale C, Fiordaliso S, Kaur M, Medne L, Rio M, Haan E, White SM, Cusmano-Ozog K, Nishi E, Guo Y, Wu H, Shi X, Zhao Q, Zhang X, Lei Q, Lu A, He X, Okamoto N, Miyake N, Piccione J, Allen J, Matsumoto N, Pipan M, Krantz ID, Izumi K.

Am J Med Genet A. 2019 Jul;179(7):1126-1138. doi: 10.1002/ajmg.a.61174. Epub 2019 May 6.

PMID:
31058441
21.

Inhibition of Ataxia-Telangiectasia Mutated and RAD3-Related (ATR) Overcomes Oxaliplatin Resistance and Promotes Antitumor Immunity in Colorectal Cancer.

Combès E, Andrade AF, Tosi D, Michaud HA, Coquel F, Garambois V, Desigaud D, Jarlier M, Coquelle A, Pasero P, Bonnefoy N, Moreaux J, Martineau P, Del Rio M, Beijersbergen RL, Vezzio-Vie N, Gongora C.

Cancer Res. 2019 Jun 1;79(11):2933-2946. doi: 10.1158/0008-5472.CAN-18-2807. Epub 2019 Apr 15.

PMID:
30987998
22.

Ofatumumab in post-transplantation recurrence of focal segmental glomerulosclerosis in a child.

Solomon S, Zolotnitskaya A, Del Rio M.

Pediatr Transplant. 2019 Jun;23(4):e13413. doi: 10.1111/petr.13413. Epub 2019 Apr 11.

PMID:
30973669
23.

Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing.

Bonafont J, Mencía Á, García M, Torres R, Rodríguez S, Carretero M, Chacón-Solano E, Modamio-Høybjør S, Marinas L, León C, Escamez MJ, Hausser I, Del Río M, Murillas R, Larcher F.

Mol Ther. 2019 May 8;27(5):986-998. doi: 10.1016/j.ymthe.2019.03.007. Epub 2019 Mar 15.

24.

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Schluth-Bolard C, Diguet F, Chatron N, Rollat-Farnier PA, Bardel C, Afenjar A, Amblard F, Amiel J, Blesson S, Callier P, Capri Y, Collignon P, Cordier MP, Coubes C, Demeer B, Chaussenot A, Demurger F, Devillard F, Doco-Fenzy M, Dupont C, Dupont JM, Dupuis-Girod S, Faivre L, Gilbert-Dussardier B, Guerrot AM, Houlier M, Isidor B, Jaillard S, Joly-Hélas G, Kremer V, Lacombe D, Le Caignec C, Lebbar A, Lebrun M, Lesca G, Lespinasse J, Levy J, Malan V, Mathieu-Dramard M, Masson J, Masurel-Paulet A, Mignot C, Missirian C, Morice-Picard F, Moutton S, Nadeau G, Pebrel-Richard C, Odent S, Paquis-Flucklinger V, Pasquier L, Philip N, Plutino M, Pons L, Portnoï MF, Prieur F, Puechberty J, Putoux A, Rio M, Rooryck-Thambo C, Rossi M, Sarret C, Satre V, Siffroi JP, Till M, Touraine R, Toutain A, Toutain J, Valence S, Verloes A, Whalen S, Edery P, Tabet AC, Sanlaville D.

J Med Genet. 2019 Aug;56(8):526-535. doi: 10.1136/jmedgenet-2018-105778. Epub 2019 Mar 28.

PMID:
30923172
25.

Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.

Russell BE, Whaley KG, Bove KE, Labilloy A, Lombardo RC, Hopkin RJ, Leslie ND, Prada C, Assouline Z, Barcia G, Bouchereau J, Chomton M, Debray D, Dorboz I, Durand P, Gaignard P, Habes D, Jardel C, Labarthe F, Lévy J, Lombès A, Mehler-Jacob C, Melki J, Menvielle L, Munnich A, Mussini C, Pichard S, Rio M, Rötig A, Sissaoui S, Slama A, Miethke AG, Schiff M.

Hepatology. 2019 Sep;70(3):1066-1070. doi: 10.1002/hep.30627. Epub 2019 May 16. No abstract available.

PMID:
30912852
26.

Effects of the binding of a Helianthus annuus lectin to Candida albicans cell wall on biofilm development and adhesion to host cells.

Del Rio M, de la Canal L, Pinedo M, Mora-Montes HM, Regente M.

Phytomedicine. 2019 May;58:152875. doi: 10.1016/j.phymed.2019.152875. Epub 2019 Feb 27.

PMID:
30884454
27.

Epidemiology and natural history of cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients: 20 years' experience of a reference centre in Spain.

Castelo B, Viñal D, Maseda R, Ostios L, Sánchez D, García-Salvatierra B, Escámez MJ, Martínez-Santamaría L, Del Río M, Mora-Rillo M, Vilches Y, Beato MJ, López Gutiérrez JC, Romero N, Santos C, Miranda J, de Lucas R.

Clin Transl Oncol. 2019 Nov;21(11):1573-1577. doi: 10.1007/s12094-019-02073-3. Epub 2019 Mar 12.

PMID:
30864020
28.

Claudin gene expression profiles and clinical value in colorectal tumors classified according to their molecular subtype.

Cherradi S, Martineau P, Gongora C, Del Rio M.

Cancer Manag Res. 2019 Feb 13;11:1337-1348. doi: 10.2147/CMAR.S188192. eCollection 2019.

29.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Amiel J, Rio M, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Schwoerer JS, Malik S, Revencu N, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ, Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O, de Vries BBA, Gordon CT, Janssens V, Vissers LELM.

Am J Hum Genet. 2019 Feb 7;104(2):357. doi: 10.1016/j.ajhg.2019.01.003. No abstract available.

30.

Malaria and acute kidney injury.

Brown DD, Solomon S, Lerner D, Del Rio M.

Pediatr Nephrol. 2019 Jan 31. doi: 10.1007/s00467-018-4191-0. [Epub ahead of print]

PMID:
30706124
31.

Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses.

Chacón-Solano E, León C, Díaz F, García-García F, García M, Escámez MJ, Guerrero-Aspizua S, Conti CJ, Mencía Á, Martínez-Santamaría L, Llames S, Pévida M, Carbonell-Caballero J, Puig-Butillé JA, Maseda R, Puig S, de Lucas R, Baselga E, Larcher F, Dopazo J, Del Río M.

Br J Dermatol. 2019 Sep;181(3):512-522. doi: 10.1111/bjd.17698. Epub 2019 Apr 15.

32.

Comparison between Vitek MS, Bruker Biotyper, Vitek2, and API20E for differentiation of species of the genus Raoultella.

de Alegría Puig CR, Torres MF, Marfil-Pérez E, Ferández MIR, Del Río MC, Balbín JA, Martínez-Martínez L.

Eur J Clin Microbiol Infect Dis. 2019 Mar;38(3):467-470. doi: 10.1007/s10096-018-03444-4. Epub 2019 Jan 25.

PMID:
30684162
33.

Recognition of species groups of Naupactus Dejean (Coleoptera: Curculionidae) from Argentina and neighboring countries.

Del Río MG, Lanteri AA.

PeerJ. 2019 Jan 16;6:e6196. doi: 10.7717/peerj.6196. eCollection 2019.

34.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S.

Am J Hum Genet. 2019 Feb 7;104(2):319-330. doi: 10.1016/j.ajhg.2018.12.007. Epub 2019 Jan 10.

35.

Correction to: T follicular helper expansion and humoral-mediated rejection are independent of the HVEM/BTLA pathway.

Rodriguez-Barbosa JI, Fernandez-Renedo C, Moral AMB, Bühler L, Del Rio ML.

Cell Mol Immunol. 2019 Mar;16(3):314. doi: 10.1038/s41423-018-0196-7.

36.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Amiel J, Rio M, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Scott Schwoerer J, Malik S, Revencu N, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ, Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O, de Vries BBA, Gordon CT, Janssens V, Vissers LELM.

Am J Hum Genet. 2019 Jan 3;104(1):139-156. doi: 10.1016/j.ajhg.2018.12.002. Epub 2018 Dec 27. Erratum in: Am J Hum Genet. 2019 Feb 7;104(2):357.

37.

Activating a Peroxo Ligand for C-O Bond Formation.

Del Río MP, Abril P, López JA, Sodupe M, Lledós A, Ciriano MA, Tejel C.

Angew Chem Int Ed Engl. 2019 Mar 4;58(10):3037-3041. doi: 10.1002/anie.201808840. Epub 2019 Jan 16.

PMID:
30589172
38.

Chilean kindergarten children's beliefs about mathematics: Family matters.

Del Río MF, Strasser K, Cvencek D, Susperreguy MI, Meltzoff AN.

Dev Psychol. 2019 Apr;55(4):687-702. doi: 10.1037/dev0000658. Epub 2018 Dec 20.

PMID:
30570298
39.

Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement.

Pulman J, Ruzzenente B, Bianchi L, Rio M, Boddaert N, Munnich A, Rötig A, Metodiev MD.

Hum Mol Genet. 2019 May 1;28(9):1445-1462. doi: 10.1093/hmg/ddy441.

PMID:
30566640
40.

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.

Hiatt SM, Neu MB, Ramaker RC, Hardigan AA, Prokop JW, Hancarova M, Prchalova D, Havlovicova M, Prchal J, Stranecky V, Yim DKC, Powis Z, Keren B, Nava C, Mignot C, Rio M, Revah-Politi A, Hemati P, Stong N, Iglesias AD, Suchy SF, Willaert R, Wentzensen IM, Wheeler PG, Brick L, Kozenko M, Hurst ACE, Wheless JW, Lacassie Y, Myers RM, Barsh GS, Sedlacek Z, Cooper GM.

PLoS Genet. 2018 Nov 30;14(11):e1007671. doi: 10.1371/journal.pgen.1007671. eCollection 2018 Nov.

41.

Anatomical and functional abnormalities on MRI in kabuki syndrome.

Boisgontier J, Tacchella JM, Lemaître H, Lehman N, Saitovitch A, Gatinois V, Boursier G, Sanchez E, Rechtman E, Fillon L, Lyonnet S, Le Quang Sang KH, Baujat G, Rio M, Boute O, Faivre L, Schaefer E, Sanlaville D, Zilbovicius M, Grévent D, Geneviève D, Boddaert N.

Neuroimage Clin. 2019;21:101610. doi: 10.1016/j.nicl.2018.11.020. Epub 2018 Nov 19.

42.

New synonymies, new combinations and lectotype designations for weevils in the tribe Naupactini (Coleoptera: Curculionidae: Entiminae).

RÍo MGD, Lanteri AA.

Zootaxa. 2018 Oct 16;4500(3):329-340. doi: 10.11646/zootaxa.4500.3.2.

PMID:
30486066
43.

[Child psychiatry interventions in patients with 22q11 deletion syndrome: From treatment to prevention].

Novo A, Woestelandt L, Rousselot-Pailley B, Leitgel M, Eutrope J, Rio M, Lyonnet S, Robel L.

Encephale. 2019 Apr;45(2):175-181. doi: 10.1016/j.encep.2018.09.011. Epub 2018 Nov 20. Review. French.

PMID:
30470499
44.

Effect of Adding a Galacto-Oligosaccharides/Fructo-Oligosaccharides (GOS/FOS®) Mixture to a Normal and Low Calcium Diet, on Calcium Absorption and Bone Health in Ovariectomy-Induced Osteopenic Rats.

Seijo M, Bryk G, Zeni Coronel M, Bonanno M, Río ME, Pita Martín de Portela ML, Zeni SN.

Calcif Tissue Int. 2019 Mar;104(3):301-312. doi: 10.1007/s00223-018-0490-5. Epub 2018 Nov 2.

PMID:
30390108
45.

Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

Gonçalves S, Patat J, Guida MC, Lachaussée N, Arrondel C, Helmstädter M, Boyer O, Gribouval O, Gubler MC, Mollet G, Rio M, Charbit M, Bole-Feysot C, Nitschke P, Huber TB, Wheeler PG, Haynes D, Juusola J, de Villemeur TB, Nava C, Afenjar A, Keren B, Bodmer R, Antignac C, Simons M.

PLoS Genet. 2018 Oct 26;14(10):e1007748. doi: 10.1371/journal.pgen.1007748. eCollection 2018 Oct.

46.

NONO Detects the Nuclear HIV Capsid to Promote cGAS-Mediated Innate Immune Activation.

Lahaye X, Gentili M, Silvin A, Conrad C, Picard L, Jouve M, Zueva E, Maurin M, Nadalin F, Knott GJ, Zhao B, Du F, Rio M, Amiel J, Fox AH, Li P, Etienne L, Bond CS, Colleaux L, Manel N.

Cell. 2018 Oct 4;175(2):488-501.e22. doi: 10.1016/j.cell.2018.08.062. Epub 2018 Sep 27.

47.

Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis.

Ruzzenente B, Assouline Z, Barcia G, Rio M, Boddaert N, Munnich A, Rötig A, Metodiev MD.

Hum Mutat. 2018 Dec;39(12):2047-2059. doi: 10.1002/humu.23657. Epub 2018 Oct 3.

PMID:
30252186
48.

CRISPR/Cas9-Mediated In Situ Correction of LAMB3 Gene in Keratinocytes Derived from a Junctional Epidermolysis Bullosa Patient.

Benati D, Miselli F, Cocchiarella F, Patrizi C, Carretero M, Baldassarri S, Ammendola V, Has C, Colloca S, Del Rio M, Larcher F, Recchia A.

Mol Ther. 2018 Nov 7;26(11):2592-2603. doi: 10.1016/j.ymthe.2018.07.024. Epub 2018 Aug 4.

49.

Rational development of synergistic combinations of chemotherapy and molecular targeted agents for colorectal cancer treatment.

Tosi D, Pérez-Gracia E, Atis S, Vié N, Combès E, Gabanou M, Larbouret C, Jarlier M, Mollevi C, Torro A, Del Rio M, Martineau P, Gongora C.

BMC Cancer. 2018 Aug 13;18(1):812. doi: 10.1186/s12885-018-4712-z.

50.

Identifying crop research priorities based on potential economic and poverty reduction impacts: The case of cassava in Africa, Asia, and Latin America.

Alene AD, Abdoulaye T, Rusike J, Labarta R, Creamer B, Del Río M, Ceballos H, Becerra LA.

PLoS One. 2018 Aug 8;13(8):e0201803. doi: 10.1371/journal.pone.0201803. eCollection 2018.

Supplemental Content

Support Center