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Items: 1 to 50 of 891

1.

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.

2.

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 Jun 3. doi: 10.1038/s41423-019-0241-1. [Epub ahead of print] No abstract available.

PMID:
31160757
3.

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.

4.

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.

5.

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
6.

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
7.

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
8.

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.

9.

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 Mar 28. pii: jmedgenet-2018-105778. doi: 10.1136/jmedgenet-2018-105778. [Epub ahead of print]

PMID:
30923172
10.

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 Mar 26. doi: 10.1002/hep.30627. [Epub ahead of print] No abstract available.

PMID:
30912852
11.

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
12.

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 Mar 12. doi: 10.1007/s12094-019-02073-3. [Epub ahead of print]

PMID:
30864020
13.

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.

14.

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.

15.

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
16.

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 Jan 28. doi: 10.1111/bjd.17698. [Epub ahead of print]

PMID:
30693469
17.

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
18.

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.

19.

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.

PMID:
30639322
20.

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.

PMID:
30635646
21.

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.

PMID:
30595372
22.

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
23.

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
24.

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
25.

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.

26.

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.

27.

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
28.

[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. French.

PMID:
30470499
29.

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
30.

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.

31.

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.

PMID:
30270045
32.

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
33.

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.

PMID:
30122422
34.

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.

35.

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.

36.

A Comparison of Child Blood Lead Levels in Urban and Rural Children Ages 5-12 Years Living in the Border Region of El Paso, Texas.

Alvarez J, Del Rio M, Mayorga T, Dominguez S, Flores-Montoya MG, Sobin C.

Arch Environ Contam Toxicol. 2018 Nov;75(4):503-511. doi: 10.1007/s00244-018-0549-3. Epub 2018 Jul 28.

PMID:
30056617
37.

Therapeutic implications of NK cell regulation of allogeneic CD8 T cell-mediated immune responses stimulated through the direct pathway of antigen presentation in transplantation.

Rodriguez-Barbosa JI, Ferreras MC, Buhler L, Jones ND, Schneider P, Perez-Simon JA, Del Rio ML.

MAbs. 2018 Oct;10(7):1030-1044. doi: 10.1080/19420862.2018.1502127. Epub 2018 Sep 5.

38.

Resin-tapped pine forests in Spain: Ecological diversity and economic valuation.

Soliño M, Yu T, Alía R, Auñón F, Bravo-Oviedo A, Chambel MR, de Miguel J, Del Río M, Justes A, Martínez-Jauregui M, Montero G, Mutke S, Ruiz-Peinado R, García Del Barrio JM.

Sci Total Environ. 2018 Jun 1;625:1146-1155. doi: 10.1016/j.scitotenv.2018.01.027. Epub 2018 Jan 12. No abstract available.

PMID:
29996411
39.

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.

Chemin J, Siquier-Pernet K, Nicouleau M, Barcia G, Ahmad A, Medina-Cano D, Hanein S, Altin N, Hubert L, Bole-Feysot C, Fourage C, Nitschké P, Thevenon J, Rio M, Blanc P, Vidal C, Bahi-Buisson N, Desguerre I, Munnich A, Lyonnet S, Boddaert N, Fassi E, Shinawi M, Zimmerman H, Amiel J, Faivre L, Colleaux L, Lory P, Cantagrel V.

Brain. 2018 Jul 1;141(7):1998-2013. doi: 10.1093/brain/awy145.

PMID:
29878067
40.

Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells.

Mencía Á, Chamorro C, Bonafont J, Duarte B, Holguin A, Illera N, Llames SG, Escámez MJ, Hausser I, Del Río M, Larcher F, Murillas R.

Mol Ther Nucleic Acids. 2018 Jun 1;11:68-78. doi: 10.1016/j.omtn.2018.01.009. Epub 2018 Jan 31.

41.

Transcriptome analysis in Hevea brasiliensis latex revealed changes in hormone signalling pathways during ethephon stimulation and consequent Tapping Panel Dryness.

Montoro P, Wu S, Favreau B, Herlinawati E, Labrune C, Martin-Magniette ML, Pointet S, Rio M, Leclercq J, Ismawanto S, Kuswanhadi.

Sci Rep. 2018 May 31;8(1):8483. doi: 10.1038/s41598-018-26854-y.

42.

Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.

Barny I, Perrault I, Michel C, Soussan M, Goudin N, Rio M, Thomas S, Attié-Bitach T, Hamel C, Dollfus H, Kaplan J, Rozet JM, Gerard X.

Hum Mol Genet. 2018 May 16. doi: 10.1093/hmg/ddy179. [Epub ahead of print]

PMID:
29771326
43.

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, Billette de Villemeur T, Nava C, Afenjar A, Keren B, Bodmer R, Antignac C, Simons M.

PLoS Genet. 2018 May 16;14(5):e1007386. doi: 10.1371/journal.pgen.1007386. eCollection 2018 May. Erratum in: PLoS Genet. 2018 Oct 26;14(10):e1007748.

44.

CCDC115-CDG: A new rare and misleading inherited cause of liver disease.

Girard M, Poujois A, Fabre M, Lacaille F, Debray D, Rio M, Fenaille F, Cholet S, Ruel C, Caussé E, Selves J, Bridoux-Henno L, Woimant F, Dupré T, Vuillaumier-Barrot S, Seta N, Alric L, de Lonlay P, Bruneel A.

Mol Genet Metab. 2018 Jul;124(3):228-235. doi: 10.1016/j.ymgme.2018.05.002. Epub 2018 May 9.

PMID:
29759592
45.

Primary Subcutaneous Synovial Sarcoma: First Reported Subcutaneous Case Showing TLE1 Immunoreactivity.

Alegría-Landa V, Nájera L, Massa DS, Roustan G, Río MD, Kutzner H, Requena L.

Am J Dermatopathol. 2018 Oct;40(10):772-777. doi: 10.1097/DAD.0000000000001172.

PMID:
29742555
46.

Neural dynamics of breaking continuous flash suppression.

Del Río M, Greenlee MW, Volberg G.

Neuroimage. 2018 Aug 1;176:277-289. doi: 10.1016/j.neuroimage.2018.04.041. Epub 2018 Apr 21.

PMID:
29684643
47.

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.

Alby C, Boutaud L, Bessières B, Serre V, Rio M, Cormier-Daire V, de Oliveira J, Ichkou A, Mouthon L, Gordon CT, Bonnière M, Mechler C, Nitschke P, Bole C, Lyonnet S, Bahi-Buisson N, Boddaert N, Colleaux L, Roth P, Ville Y, Vekemans M, Encha-Razavi F, Attié-Bitach T, Thomas S.

Am J Med Genet A. 2018 May;176(5):1091-1098. doi: 10.1002/ajmg.a.38684.

PMID:
29681083
48.

Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.

Geoffron S, Abi Habib W, Chantot-Bastaraud S, Dubern B, Steunou V, Azzi S, Afenjar A, Busa T, Pinheiro Canton A, Chalouhi C, Dufourg MN, Esteva B, Fradin M, Geneviève D, Heide S, Isidor B, Linglart A, Morice Picard F, Naud-Saudreau C, Oliver Petit I, Philip N, Pienkowski C, Rio M, Rossignol S, Tauber M, Thevenon J, Vu-Hong TA, Harbison MD, Salem J, Brioude F, Netchine I, Giabicani E.

J Clin Endocrinol Metab. 2018 Jul 1;103(7):2436-2446. doi: 10.1210/jc.2017-02152.

PMID:
29659920
49.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR.

Am J Hum Genet. 2018 Apr 5;102(4):713. doi: 10.1016/j.ajhg.2018.03.015. No abstract available.

50.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Lefebvre M, Thevenon J, Dubourg C, Julia S, Sarret C, Remerand G, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Vigneron J, Leheup B, Lambert L, Philippe C, Béri-Dexheimer M, Cuisset JM, Andrieux J, Plessis G, Toutain A, Guibaud L, Cormier-Daire V, Rio M, Bonnefont JP, Echenne B, Journel H, Burglen L, Chantot-Bastaraud S, Bienvenu T, Baumann C, Perrin L, Drunat S, Jouk PS, Dieterich K, Devillard F, Lacombe D, Philip N, Sigaudy S, Moncla A, Missirian C, Badens C, Perreton N, Thauvin-Robinet C, AChro-Puce R, Pedespan JM, Rooryck C, Goizet C, Vincent-Delorme C, Duban-Bedu B, Bahi-Buisson N, Afenjar A, Maincent K, Héron D, Alessandri JL, Martin-Coignard D, Lesca G, Rossi M, Raynaud M, Callier P, Mosca-Boidron AL, Marle N, Coutton C, Satre V, Caignec CL, Malan V, Romana S, Keren B, Tabet AC, Kremer V, Scheidecker S, Vigouroux A, Lackmy-Port-Lis M, Sanlaville D, Till M, Carneiro M, Gilbert-Dussardier B, Willems M, Van Esch H, Portes VD, El Chehadeh S.

J Med Genet. 2018 Jun;55(6):359-371. doi: 10.1136/jmedgenet-2017-104956. Epub 2018 Apr 4.

PMID:
29618507

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