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Items: 1 to 50 of 464

1.

Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A.

Mealy MA, Nam TS, Pardo SJ, Pardo CA, Sobreira NL, Avramopoulos D, Valle D, Burns KH, Levy M.

Neurol Genet. 2018 Jan 30;4(1):e213. doi: 10.1212/NXG.0000000000000213. eCollection 2018 Feb.

PMID:
29473047
2.

The impact of insecticide applications on the dynamics of resistance: The case of four Aedes aegypti populations from different Brazilian regions.

Garcia GA, David MR, Martins AJ, de Freitas RM, Linss JGB, Araújo SC, Lima JBP, Valle D.

PLoS Negl Trop Dis. 2018 Feb 12;12(2):e0006227. doi: 10.1371/journal.pntd.0006227. [Epub ahead of print]

3.

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.

Sobreira N, Brucato M, Zhang L, Ladd-Acosta C, Ongaco C, Romm J, Doheny KF, Mingroni-Netto RC, Bertola D, Kim CA, Perez AB, Melaragno MI, Valle D, Meloni VA, Bjornsson HT.

Eur J Hum Genet. 2017 Dec;25(12):1335-1344. doi: 10.1038/s41431-017-0023-0. Epub 2017 Nov 7.

PMID:
29255178
4.

Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel.

Umanah GKE, Pignatelli M, Yin X, Chen R, Crawford J, Neifert S, Scarffe L, Behensky AA, Guiberson N, Chang M, Ma E, Kim JW, Castro CC, Mao X, Chen L, Andrabi SA, Pletnikov MV, Pulver AE, Avramopoulos D, Bonci A, Valle D, Dawson TM, Dawson VL.

Sci Transl Med. 2017 Dec 13;9(420). pii: eaah4985. doi: 10.1126/scitranslmed.aah4985.

PMID:
29237760
5.

Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.

Ben-Salem S, Robbins SM, Lm Sobreira N, Lyon A, Al-Shamsi AM, Islam BK, Akawi NA, John A, Thachillath P, Al Hamed S, Valle D, Ali BR, Al-Gazali L.

J Med Genet. 2018 Feb;55(2):122-130. doi: 10.1136/jmedgenet-2017-104827. Epub 2017 Nov 9.

PMID:
29122926
6.

Darker eggs of mosquitoes resist more to dry conditions: Melanin enhances serosal cuticle contribution in egg resistance to desiccation in Aedes, Anopheles and Culex vectors.

Farnesi LC, Vargas HCM, Valle D, Rezende GL.

PLoS Negl Trop Dis. 2017 Oct 30;11(10):e0006063. doi: 10.1371/journal.pntd.0006063. eCollection 2017 Oct.

7.

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

Telegrafi A, Webb BD, Robbins SM, Speck-Martins CE, FitzPatrick D, Fleming L, Redett R, Dufke A, Houge G, van Harssel JJT, Verloes A, Robles A, Manoli I, Engle EC; Moebius Syndrome Research Consortium, Jabs EW, Valle D, Carey J, Hoover-Fong JE, Sobreira NLM.

Am J Med Genet A. 2017 Oct;173(10):2763-2771. doi: 10.1002/ajmg.a.38375. Epub 2017 Aug 4.

PMID:
28777491
8.

Insecticide resistance, associated mechanisms and fitness aspects in two Brazilian Stegomyia aegypti (= Aedes aegypti) populations.

Viana-Medeiros PF, Bellinato DF, Martins AJ, Valle D.

Med Vet Entomol. 2017 Dec;31(4):340-350. doi: 10.1111/mve.12241. Epub 2017 Jul 28.

PMID:
28752548
9.

LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.

Florwick A, Dharmaraj T, Jurgens J, Valle D, Wilson KL.

Front Genet. 2017 Jun 15;8:79. doi: 10.3389/fgene.2017.00079. eCollection 2017.

10.

Polygenic risk score and heritability estimates reveals a genetic relationship between ASD and OCD.

Guo W, Samuels JF, Wang Y, Cao H, Ritter M, Nestadt PS, Krasnow J, Greenberg BD, Fyer AJ, McCracken JT, Geller DA, Murphy DL, Knowles JA, Grados MA, Riddle MA, Rasmussen SA, McLaughlin NC, Nurmi EL, Askland KD, Cullen BA, Piacentini J, Pauls DL, Bienvenu OJ, Stewart SE, Goes FS, Maher B, Pulver AE, Valle D, Mattheisen M, Qian J, Nestadt G, Shugart YY.

Eur Neuropsychopharmacol. 2017 Jul;27(7):657-666. doi: 10.1016/j.euroneuro.2017.03.011.

PMID:
28641744
11.

Does deforestation promote or inhibit malaria transmission in the Amazon? A systematic literature review and critical appraisal of current evidence.

Tucker Lima JM, Vittor A, Rifai S, Valle D.

Philos Trans R Soc Lond B Biol Sci. 2017 Jun 5;372(1722). pii: 20160125. doi: 10.1098/rstb.2016.0125. Review.

12.

Adverse systemic reaction to benznidazole.

Coronel MV, Frutos LO, Muñoz EC, Valle DK, Rojas DH.

Rev Soc Bras Med Trop. 2017 Jan-Feb;50(1):145-147. doi: 10.1590/0037-8682-0071-2016.

13.

Skeletal Dysplasias: Growing Therapy for Growing Bones.

Jelin AC, O'Hare E, Blakemore K, Jelin EB, Valle D, Hoover-Fong J.

Front Pharmacol. 2017 Mar 6;8:79. doi: 10.3389/fphar.2017.00079. eCollection 2017. Review.

14.

Individual Movement Strategies Revealed through Novel Clustering of Emergent Movement Patterns.

Valle D, Cvetojevic S, Robertson EP, Reichert BE, Hochmair HH, Fletcher RJ.

Sci Rep. 2017 Mar 8;7:44052. doi: 10.1038/srep44052.

15.

Risk analysis and prediction of visceral leishmaniasis dispersion in São Paulo State, Brazil.

Sevá AD, Mao L, Galvis-Ovallos F, Tucker Lima JM, Valle D.

PLoS Negl Trop Dis. 2017 Feb 6;11(2):e0005353. doi: 10.1371/journal.pntd.0005353. eCollection 2017 Feb.

16.

Delayed cardiac tamponade: A rare but life-threatening complication of catheter ablation.

Yetter E, Brazg J, Del Valle D, Mulvey L, Dickman E.

Am J Emerg Med. 2017 May;35(5):803.e1-803.e3. doi: 10.1016/j.ajem.2016.11.041. Epub 2016 Nov 17. Review.

PMID:
27989537
17.

[Zika, dengue and chikungunya: challenges and issues].

Valle D, Pimenta DN, Aguiar R.

Epidemiol Serv Saude. 2016 Apr-Jun;25(2):419-422. doi: 10.5123/S1679-49742016000200020. Portuguese. No abstract available.

18.

No magic bullet: citizenship and social participation in the control of Aedes aegypti.

Valle D.

Epidemiol Serv Saude. 2016 Jul-Sep;25(3):629-632. doi: 10.5123/S1679-49742016000300018. Portuguese, English. No abstract available.

19.

Stroke-like encephalopathy following high-dose intravenous methotrexate in an adolescent with osteosarcoma: a case report.

Valle DA, Kakehasi FM, Melo RM, Siqueira CM, Soares TF, Rodrigues KE.

Rev Bras Hematol Hemoter. 2016 Oct - Dec;38(4):364-367. doi: 10.1016/j.bjhh.2016.09.005. Epub 2016 Oct 11. No abstract available.

20.

Triflumuron Effects on the Physiology and Reproduction of Rhodnius prolixus Adult Females.

Henriques BS, Genta FA, Mello CB, Silva LR, Codogno TF, Oliveira AF, Marinho LP, Valle D, Lima JB, Feder D, Gonzalez MS, Azambuja P.

Biomed Res Int. 2016;2016:8603140. Epub 2016 Oct 16.

21.

A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia.

Braunstein EM, Li R, Sobreira N, Marosy B, Hetrick K, Doheny K, Gocke CD, Valle D, Brodsky RA, Cheng L.

Leukemia. 2016 Nov;30(11):2242-2245. doi: 10.1038/leu.2016.173. Epub 2016 Jun 15. No abstract available.

22.

The DPYSL2 gene connects mTOR and schizophrenia.

Pham X, Song G, Lao S, Goff L, Zhu H, Valle D, Avramopoulos D.

Transl Psychiatry. 2016 Nov 1;6(11):e933. doi: 10.1038/tp.2016.204.

24.

Neuregulin 3 Knockout Mice Exhibit Behaviors Consistent with Psychotic Disorders.

Hayes LN, Shevelkin A, Zeledon M, Steel G, Chen PL, Obie C, Pulver A, Avramopoulos D, Valle D, Sawa A, Pletnikov MV.

Mol Neuropsychiatry. 2016 Jul;2(2):79-87. doi: 10.1159/000445836. Epub 2016 May 20.

25.

A social-ecological database to advance research on infrastructure development impacts in the Brazilian Amazon.

Tucker Lima JM, Valle D, Moretto EM, Pulice SM, Zuca NL, Roquetti DR, Beduschi LE, Praia AS, Okamoto CP, da Silva Carvalhaes VL, Branco EA, Barbezani B, Labandera E, Timpe K, Kaplan D.

Sci Data. 2016 Aug 30;3:160071. doi: 10.1038/sdata.2016.71.

26.

Thin Layer Chromatography-Bioautography and Gas Chromatography-Mass Spectrometry of Antimicrobial Leaf Extracts from Philippine Piper betle L. against Multidrug-Resistant Bacteria.

Valle DL Jr, Puzon JJ, Cabrera EC, Rivera WL.

Evid Based Complement Alternat Med. 2016;2016:4976791. doi: 10.1155/2016/4976791. Epub 2016 Jul 10.

27.

Lessons learned from the search for genes responsible for rare Mendelian disorders.

Sobreira NL, Valle D.

Mol Genet Genomic Med. 2016 Jul 18;4(4):371-5. doi: 10.1002/mgg3.233. eCollection 2016 Jul. No abstract available.

28.

Resistance Status to the Insecticides Temephos, Deltamethrin, and Diflubenzuron in Brazilian Aedes aegypti Populations.

Bellinato DF, Viana-Medeiros PF, Araújo SC, Martins AJ, Lima JB, Valle D.

Biomed Res Int. 2016;2016:8603263. doi: 10.1155/2016/8603263. Epub 2016 Jun 21.

29.

Molecular and phenotypic characterization of methicillin-resistant Staphylococcus aureus isolates from a tertiary hospital in the Philippines.

Valle DL Jr, Paclibare PA, Cabrera EC, Rivera WL.

Trop Med Health. 2016 Mar 14;44:3. doi: 10.1186/s41182-016-0003-z. eCollection 2016.

30.

Denise Valle--On Bugs, Dengue, and Swimming.

Valle D.

Trends Parasitol. 2016 Mar;32(3):172-4. No abstract available.

PMID:
27336096
31.

Marine debris: Implications for conservation of rocky reefs in Manabi, Ecuador (Se Pacific Coast).

Figueroa-Pico J, Valle DM, Castillo-Ruperti R, Macías-Mayorga D.

Mar Pollut Bull. 2016 Aug 15;109(1):7-13. doi: 10.1016/j.marpolbul.2016.05.070. Epub 2016 Jun 2. Review.

PMID:
27263979
32.

GENOME ENGINEERING. The Genome Project-Write.

Boeke JD, Church G, Hessel A, Kelley NJ, Arkin A, Cai Y, Carlson R, Chakravarti A, Cornish VW, Holt L, Isaacs FJ, Kuiken T, Lajoie M, Lessor T, Lunshof J, Maurano MT, Mitchell LA, Rine J, Rosser S, Sanjana NE, Silver PA, Valle D, Wang H, Way JC, Yang L.

Science. 2016 Jul 8;353(6295):126-7. doi: 10.1126/science.aaf6850. Epub 2016 Jun 2. No abstract available.

PMID:
27256881
33.

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.

You J, Sobreira NL, Gable DL, Jurgens J, Grange DK, Belnap N, Siniard A, Szelinger S, Schrauwen I, Richholt RF, Vallee SE, Dinulos MBP, Valle D, Armanios M, Hoover-Fong J.

Am J Hum Genet. 2016 May 5;98(5):909-918. doi: 10.1016/j.ajhg.2016.03.014. Epub 2016 Apr 28.

34.

The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Pipitone A, Raval DB, Duis J, Vernon H, Martin R, Hamosh A, Valle D, Gunay-Aygun M.

Am J Med Genet A. 2016 Jun;170(6):1600-2. doi: 10.1002/ajmg.a.37620. Epub 2016 Mar 21.

35.

The role of human adenoviruses type 41 in acute diarrheal disease in Minas Gerais after rotavirus vaccination.

Reis TA, Assis AS, do Valle DA, Barletta VH, de Carvalho IP, Rose TL, Portes SA, Leite JP, da Rosa e Silva ML.

Braz J Microbiol. 2016 Jan-Mar;47(1):243-50. doi: 10.1016/j.bjm.2015.11.011. Epub 2016 Jan 27.

36.
37.

Neurophysiological correlates in Mild Cognitive Impairment detected using group Independent Component Analysis.

Ochoa JF, Ruiz M, Valle D, Duque J, Tobon C, Alonso JF, Hernandez AM, Mananas MA.

Conf Proc IEEE Eng Med Biol Soc. 2015;2015:7442-5. doi: 10.1109/EMBC.2015.7320112.

PMID:
26738012
38.

Bias in logistic regression due to imperfect diagnostic test results and practical correction approaches.

Valle D, Lima JM, Millar J, Amratia P, Haque U.

Malar J. 2015 Nov 4;14:434. doi: 10.1186/s12936-015-0966-y. Review.

39.

Identification and functional studies of regulatory variants responsible for the association of NRG3 with a delusion phenotype in schizophrenia.

Zeledón M, Eckart N, Taub M, Vernon H, Szymanksi M, Wang R, Chen PL, Nestadt G, McGrath JA, Sawa A, Pulver AE, Avramopoulos D, Valle D.

Mol Neuropsychiatry. 2015 May;1(1):36-46. Epub 2015 Feb 27.

40.

Physical features and chitin content of eggs from the mosquito vectors Aedes aegypti, Anopheles aquasalis and Culex quinquefasciatus: Connection with distinct levels of resistance to desiccation.

Farnesi LC, Menna-Barreto RF, Martins AJ, Valle D, Rezende GL.

J Insect Physiol. 2015 Dec;83:43-52. doi: 10.1016/j.jinsphys.2015.10.006. Epub 2015 Oct 26.

41.

Reduced PLP2 expression increases ER-stress-induced neuronal apoptosis and risk for adverse neurological outcomes after hypoxia ischemia injury.

Zhang L, Wang T, Valle D.

Hum Mol Genet. 2015 Dec 20;24(25):7221-6. doi: 10.1093/hmg/ddv422. Epub 2015 Oct 28.

42.

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.

Ben-Salem S, Sobreira N, Akawi NA, Al-Shamsi AM, John A, Pramathan T, Valle D, Ali BR, Al-Gazali L.

Am J Med Genet A. 2016 Jan;170A(1):156-61. doi: 10.1002/ajmg.a.37405. Epub 2015 Sep 23.

43.

Enhanced conversion of induced neuronal cells (iN cells) from human fibroblasts: Utility in uncovering cellular deficits in mental illness-associated chromosomal abnormalities.

Passeri E, Wilson AM, Primerano A, Kondo MA, Sengupta S, Srivastava R, Koga M, Obie C, Zandi PP, Goes FS, Valle D, Rapoport JL, Sawa A, Kano S, Ishizuka K.

Neurosci Res. 2015 Dec;101:57-61. doi: 10.1016/j.neures.2015.07.011. Epub 2015 Aug 7.

44.

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.

Sobreira N, Schiettecatte F, Valle D, Hamosh A.

Hum Mutat. 2015 Oct;36(10):928-30. doi: 10.1002/humu.22844. Epub 2015 Aug 13.

45.

GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

Au PYB, You J, Caluseriu O, Schwartzentruber J, Majewski J, Bernier FP, Ferguson M; Care for Rare Canada Consortium, Valle D, Parboosingh JS, Sobreira N, Innes AM, Kline AD.

Hum Mutat. 2015 Oct;36(10):1009-1014. doi: 10.1002/humu.22837. Epub 2015 Aug 6.

46.

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.

Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, López-Giráldez F, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA; Centers for Mendelian Genomics, Bamshad MJ.

Am J Hum Genet. 2015 Aug 6;97(2):199-215. doi: 10.1016/j.ajhg.2015.06.009. Epub 2015 Jul 9. Review.

47.

Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome).

Gniadek TJ, Singer N, Barker NJ, Spevak PJ, Crain BJ, Valle D, Halushka MK.

Cardiovasc Pathol. 2015 Sep-Oct;24(5):322-6. doi: 10.1016/j.carpath.2015.06.001. Epub 2015 Jun 19.

PMID:
26141114
48.

The Impact of Selection with Diflubenzuron, a Chitin Synthesis Inhibitor, on the Fitness of Two Brazilian Aedes aegypti Field Populations.

Belinato TA, Valle D.

PLoS One. 2015 Jun 24;10(6):e0130719. doi: 10.1371/journal.pone.0130719. eCollection 2015.

49.

Rhodnius prolixus supergene families of enzymes potentially associated with insecticide resistance.

Schama R, Pedrini N, Juárez MP, Nelson DR, Torres AQ, Valle D, Mesquita RD.

Insect Biochem Mol Biol. 2016 Feb;69:91-104. doi: 10.1016/j.ibmb.2015.06.005. Epub 2015 Jun 12.

PMID:
26079630
50.

New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation.

Ben-Salem S, Nara S, Al-Shamsi AM, Valle D, Ali BR, Al-Gazali L.

J Dermatol. 2015 Aug;42(8):821-2. doi: 10.1111/1346-8138.12917. Epub 2015 May 11. No abstract available.

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