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Items: 1 to 50 of 305

1.

Ammonia, thiocyanate, and cyanate removal in an aerobic up-flow submerged attached growth reactor treating gold mine wastewater.

di Biase A, Wei V, Kowalski MS, Bratty M, Hildebrand M, Jabari P, Devlin TR, Oleszkiewicz JA.

Chemosphere. 2019 Nov 18;243:125395. doi: 10.1016/j.chemosphere.2019.125395. [Epub ahead of print]

PMID:
31765897
2.

SCN1A Variants in vaccine-related febrile seizures: A prospective study.

Damiano JA, Deng L, Li W, Burgess R, Schneider AL, Crawford NW, Buttery J, Gold M, Richmond P, Macartney KK, Hildebrand MS, Scheffer IE, Wood N, Berkovic SF.

Ann Neurol. 2019 Nov 22. doi: 10.1002/ana.25650. [Epub ahead of print]

PMID:
31755124
3.

Dynamic subcellular translocation of V-type H+ -ATPase is essential for biomineralization of the diatom silica cell wall.

Yee DP, Hildebrand M, Tresguerres M.

New Phytol. 2019 Nov 20. doi: 10.1111/nph.16329. [Epub ahead of print]

PMID:
31746463
4.

Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response.

Johnson JL, Stoica L, Liu Y, Zhu PJ, Bhattacharya A, Buffington SA, Huq R, Eissa NT, Larsson O, Porse BT, Domingo D, Nawaz U, Carroll R, Jolly L, Scerri TS, Kim HG, Brignell A, Coleman MJ, Braden R, Kini U, Jackson V, Baxter A, Bahlo M, Scheffer IE, Amor DJ, Hildebrand MS, Bonnen PE, Beeton C, Gecz J, Morgan AT, Costa-Mattioli M.

Neuron. 2019 Nov 20;104(4):665-679.e8. doi: 10.1016/j.neuron.2019.08.027. Epub 2019 Oct 1.

PMID:
31585809
5.

Exploring emergency contraception prescribing by pharmacists in California.

Mody SK, Rafie S, Hildebrand M, Oakley LP.

Contraception. 2019 Dec;100(6):464-467. doi: 10.1016/j.contraception.2019.08.012. Epub 2019 Sep 4.

PMID:
31493380
6.

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.

Ware TL, Huskins SR, Grinton BE, Liu YC, Bennett MF, Harvey M, McMahon J, Andreopoulos-Malikotsinas D, Bahlo M, Howell KB, Hildebrand MS, Damiano JA, Rosenfeld A, Mackay MT, Mandelstam S, Leventer RJ, Harvey AS, Freeman JL, Scheffer IE, Jones DL, Berkovic SF.

Epilepsia Open. 2019 Jul 22;4(3):504-510. doi: 10.1002/epi4.12350. eCollection 2019 Sep.

7.

Semi-Autonomous Tongue Control of an Assistive Robotic Arm for Individuals with Quadriplegia.

Hildebrand M, Bonde F, Kobborg RVN, Andersen C, Norman AF, Thogersen M, Bengtson SH, Dosen S, Struijk NSLA.

IEEE Int Conf Rehabil Robot. 2019 Jun;2019:157-162. doi: 10.1109/ICORR.2019.8779457.

PMID:
31374623
8.

Phenotypic Characterization of Bone Marrow Mononuclear Cells and Derived Stromal Cell Populations from Human Iliac Crest, Vertebral Body and Femoral Head.

Herrmann M, Hildebrand M, Menzel U, Fahy N, Alini M, Lang S, Benneker L, Verrier S, Stoddart MJ, Bara JJ.

Int J Mol Sci. 2019 Jul 14;20(14). pii: E3454. doi: 10.3390/ijms20143454.

9.

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.

Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan De Crescenzo A, Kotzaeridou U, Syrbe S, Anagnostou E, Azage M, Bend R, Begtrup A, Brown NJ, Büttner B, Cho MT, Cooper GM, Doering JH, Dubourg C, Everman DB, Hildebrand MS, Santos FJR, Kellam B, Keller-Ramey J, Lemke JR, Liu S, Niyazov D, Payne K, Person R, Quélin C, Schnur RE, Smith BT, Strober J, Walker S, Wallis M, Walsh L, Yang S, Yuen RKC, Ziegler A, Sticht H, Pride MC, Orosco L, Martínez-Cerdeño V, Silverman JL, Crawley JN, Scherer SW, Zarbalis KS, Jamra R.

Brain. 2019 Sep 1;142(9):2617-2630. doi: 10.1093/brain/awz198. Erratum in: Brain. 2019 Nov 1;142(11):e63.

PMID:
31327001
10.

Somatic mutation: The hidden genetics of brain malformations and focal epilepsies.

Ye Z, McQuillan L, Poduri A, Green TE, Matsumoto N, Mefford HC, Scheffer IE, Berkovic SF, Hildebrand MS.

Epilepsy Res. 2019 Sep;155:106161. doi: 10.1016/j.eplepsyres.2019.106161. Epub 2019 Jul 2. Review.

PMID:
31295639
11.

Expansion of phenotype of DDX3X syndrome: six new cases.

Beal B, Hayes I, McGaughran J, Amor DJ, Miteff C, Jackson V, van Reyk O, Subramanian G, Hildebrand MS, Morgan AT, Goel H.

Clin Dysmorphol. 2019 Oct;28(4):169-174. doi: 10.1097/MCD.0000000000000289.

PMID:
31274575
12.

Loss of STEP61 couples disinhibition to N-methyl-d-aspartate receptor potentiation in rodent and human spinal pain processing.

Dedek A, Xu J, Kandegedara CM, Lorenzo LÉ, Godin AG, De Koninck Y, Lombroso PJ, Tsai EC, Hildebrand ME.

Brain. 2019 Jun 1;142(6):1535-1546. doi: 10.1093/brain/awz105.

13.

In vitro simulation of the early proinflammatory phase in fracture healing reveals strong immunomodulatory effects of CD146-positive mesenchymal stromal cells.

Herrmann M, Stanić B, Hildebrand M, Alini M, Verrier S.

J Tissue Eng Regen Med. 2019 Aug;13(8):1466-1481. doi: 10.1002/term.2902. Epub 2019 Jun 25.

PMID:
31132812
14.

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.

Khan K, Zech M, Morgan AT, Amor DJ, Skorvanek M, Khan TN, Hildebrand MS, Jackson VE, Scerri TS, Coleman M, Rigbye KA, Scheffer IE, Bahlo M, Wagner M, Lam DD, Berutti R, Havránková P, Fečíková A, Strom TM, Han V, Dosekova P, Gdovinova Z, Laccone F, Jameel M, Mooney MR, Baig SM, Jech R, Davis EE, Katsanis N, Winkelmann J.

Genet Med. 2019 Nov;21(11):2532-2542. doi: 10.1038/s41436-019-0523-0. Epub 2019 Apr 30.

15.

Cell-Type-Specific Regulation of Nucleus Accumbens Synaptic Plasticity and Cocaine Reward Sensitivity by the Circadian Protein, NPAS2.

Parekh PK, Logan RW, Ketchesin KD, Becker-Krail D, Shelton MA, Hildebrand MA, Barko K, Huang YH, McClung CA.

J Neurosci. 2019 Jun 12;39(24):4657-4667. doi: 10.1523/JNEUROSCI.2233-18.2019. Epub 2019 Apr 8.

16.

Dorsal language stream anomalies in an inherited speech disorder.

Liégeois FJ, Turner SJ, Mayes A, Bonthrone AF, Boys A, Smith L, Parry-Fielder B, Mandelstam S, Spencer-Smith M, Bahlo M, Scerri TS, Hildebrand MS, Scheffer IE, Connelly A, Morgan AT.

Brain. 2019 Apr 1;142(4):966-977. doi: 10.1093/brain/awz018.

PMID:
30796815
17.

Development of a rapid functional assay that predicts GLUT1 disease severity.

Zaman SM, Mullen SA, Petrovski S, Maljevic S, Gazina EV, Phillips AM, Jones GD, Hildebrand MS, Damiano J, Auvin S, Lerche H, Weber YG, Berkovic SF, Scheffer IE, Reid CA, Petrou S.

Neurol Genet. 2018 Dec 6;4(6):e297. doi: 10.1212/NXG.0000000000000297. eCollection 2018 Dec.

18.

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.

Berkovic SF, Oliver KL, Canafoglia L, Krieger P, Damiano JA, Hildebrand MS, Morbin M, Vears DF, Sofia V, Giuliano L, Garavaglia B, Simonati A, Santorelli FM, Gambardella A, Labate A, Belcastro V, Castellotti B, Ozkara C, Zeman A, Rankin J, Mole SE, Aguglia U, Farrell M, Rajagopalan S, McDougall A, Brammah S, Andermann F, Andermann E, Dahl HM, Franceschetti S, Carpenter S.

Brain. 2019 Jan 1;142(1):59-69. doi: 10.1093/brain/awy297.

PMID:
30561534
19.

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE.

Neurology. 2019 Jan 8;92(2):e96-e107. doi: 10.1212/WNL.0000000000006729. Epub 2018 Dec 12. Erratum in: Neurology. 2019 Nov 12;93(20):908.

20.

Characterization of speech and language phenotype in children with NRXN1 deletions.

Brignell A, St John M, Boys A, Bruce A, Dinale C, Pigdon L, Hildebrand MS, Amor DJ, Morgan AT.

Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):700-708. doi: 10.1002/ajmg.b.32664. Epub 2018 Oct 25.

PMID:
30358070
21.

What occupational and physical therapists know about farmers' health.

Hildebrand MW, Brinkley J, Timmons S, Mendez F.

J Agromedicine. 2019 Jan;24(1):64-73. doi: 10.1080/1059924X.2018.1538917. Epub 2018 Nov 8.

PMID:
30350749
22.

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.

Booth KT, Askew JW, Talebizadeh Z, Huygen PLM, Eudy J, Kenyon J, Hoover D, Hildebrand MS, Smith KR, Bahlo M, Kimberling WJ, Smith RJH, Azaiez H, Smith SD.

Genet Med. 2019 Apr;21(4):948-954. doi: 10.1038/s41436-018-0285-0. Epub 2018 Sep 24.

23.

Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy.

Kinay D, Oliver KL, Tüzün E, Damiano JA, Ulusoy C, Andermann E, Hildebrand MS, Bahlo M, Berkovic SF.

Epilepsia. 2018 Aug;59(8):e125-e129. doi: 10.1111/epi.14506. Epub 2018 Jul 4.

24.

Do impression management and self-deception distort self-report measures with content of dynamic risk factors in offender samples? A meta-analytic review.

Hildebrand M, Wibbelink CJM, Verschuere B.

Int J Law Psychiatry. 2018 May - Jun;58:157-170. doi: 10.1016/j.ijlp.2018.02.013. Epub 2018 Apr 27. Review.

PMID:
29853006
25.

DFNA2 Nonsyndromic Hearing Loss.

Smith RJH, Hildebrand M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2008 Apr 4 [updated 2018 May 10].

26.

Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome.

Hildebrand MS, Harvey AS, Malone S, Damiano JA, Do H, Ye Z, McQuillan L, Maixner W, Kalnins R, Nolan B, Wood M, Ozturk E, Jones NC, Gillies G, Pope K, Lockhart PJ, Dobrovic A, Leventer RJ, Scheffer IE, Berkovic SF.

Neurol Genet. 2018 May 1;4(3):e236. doi: 10.1212/NXG.0000000000000236. eCollection 2018 Jun.

27.

Cross-Sectional Associations of Reallocating Time Between Sedentary and Active Behaviours on Cardiometabolic Risk Factors in Young People: An International Children's Accelerometry Database (ICAD) Analysis.

Hansen BH, Anderssen SA, Andersen LB, Hildebrand M, Kolle E, Steene-Johannessen J, Kriemler S, Page AS, Puder JJ, Reilly JJ, Sardinha LB, van Sluijs EMF, Wedderkopp N, Ekelund U; International Children’s Accelerometry Database (ICAD) Collaborators.

Sports Med. 2018 Oct;48(10):2401-2412. doi: 10.1007/s40279-018-0909-1.

28.

Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing.

Lopez JA, Noori T, Minson A, Li Jovanoska L, Thia K, Hildebrand MS, Akhlaghi H, Darcy PK, Kershaw MH, Brown NJ, Grigg A, Trapani JA, Voskoboinik I.

Front Immunol. 2018 Mar 15;9:529. doi: 10.3389/fimmu.2018.00529. eCollection 2018.

29.

Five Days Granulocyte Colony-Stimulating Factor Treatment Increases Bone Formation and Reduces Gap Size of a Rat Segmental Bone Defect: A Pilot Study.

Herrmann M, Zeiter S, Eberli U, Hildebrand M, Camenisch K, Menzel U, Alini M, Verrier S, Stadelmann VA.

Front Bioeng Biotechnol. 2018 Feb 12;6:5. doi: 10.3389/fbioe.2018.00005. eCollection 2018.

30.

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.

Eising E, Carrion-Castillo A, Vino A, Strand EA, Jakielski KJ, Scerri TS, Hildebrand MS, Webster R, Ma A, Mazoyer B, Francks C, Bahlo M, Scheffer IE, Morgan AT, Shriberg LD, Fisher SE.

Mol Psychiatry. 2019 Jul;24(7):1065-1078. doi: 10.1038/s41380-018-0020-x. Epub 2018 Feb 20.

31.

KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.

Myers KA, McGlade A, Neubauer BA, Lal D, Berkovic SF, Scheffer IE, Hildebrand MS.

PLoS One. 2018 Jan 19;13(1):e0191546. doi: 10.1371/journal.pone.0191546. eCollection 2018.

32.

Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome.

Damiano JA, Do H, Ozturk E, Burgess R, Kalnins R, Jones NC, Dobrovic A, Berkovic SF, Hildebrand MS.

Epileptic Disord. 2017 Dec 1;19(4):450-455. doi: 10.1684/epd.2017.0944.

33.

Gain-of-function HCN2 variants in genetic epilepsy.

Li M, Maljevic S, Phillips AM, Petrovski S, Hildebrand MS, Burgess R, Mount T, Zara F, Striano P, Schubert J, Thiele H, Nürnberg P, Wong M, Weisenberg JL, Thio LL, Lerche H, Scheffer IE, Berkovic SF, Petrou S, Reid CA.

Hum Mutat. 2018 Feb;39(2):202-209. doi: 10.1002/humu.23357. Epub 2017 Nov 13.

PMID:
29064616
34.
35.

Genetic epilepsy with febrile seizures plus: Refining the spectrum.

Zhang YH, Burgess R, Malone JP, Glubb GC, Helbig KL, Vadlamudi L, Kivity S, Afawi Z, Bleasel A, Grattan-Smith P, Grinton BE, Bellows ST, Vears DF, Damiano JA, Goldberg-Stern H, Korczyn AD, Dibbens LM, Ruzzo EK, Hildebrand MS, Berkovic SF, Scheffer IE.

Neurology. 2017 Sep 19;89(12):1210-1219. doi: 10.1212/WNL.0000000000004384. Epub 2017 Aug 25.

PMID:
28842445
36.
37.

Hereditary Hearing Loss and Deafness Overview.

Shearer AE, Hildebrand MS, Smith RJH.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
1999 Feb 14 [updated 2017 Jul 27].

38.

Evaluation of GLUT1 variation in non-acquired focal epilepsy.

Peeraer A, Damiano JA, Bellows ST, Scheffer IE, Berkovic SF, Mullen SA, Hildebrand MS.

Epilepsy Res. 2017 Jul;133:54-57. doi: 10.1016/j.eplepsyres.2017.04.007. Epub 2017 Apr 10.

PMID:
28419980
39.

Expression of Histophilus somni IbpA DR2 protective antigen in the diatom Thalassiosira pseudonana.

Davis A, Crum LT, Corbeil LB, Hildebrand M.

Appl Microbiol Biotechnol. 2017 Jul;101(13):5313-5324. doi: 10.1007/s00253-017-8267-8. Epub 2017 Apr 12.

40.

Is a microRNA-328 binding site in PAX6 associated with Rolandic epilepsy?

McGlade A, Myers KA, Berkovic SF, Scheffer IE, Petrovski S, Hildebrand MS.

Ann Clin Transl Neurol. 2017 Mar 23;4(4):276-277. doi: 10.1002/acn3.401. eCollection 2017 Apr. No abstract available.

41.

CATSPER-Related Male Infertility.

Hildebrand MS, Avenarius MR, Smith RJH.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2009 Dec 3 [updated 2017 Mar 23].

42.

Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.

Perucca P, Scheffer IE, Harvey AS, James PA, Lunke S, Thorne N, Gaff C, Regan BM, Damiano JA, Hildebrand MS, Berkovic SF, O'Brien TJ, Kwan P.

Epilepsy Res. 2017 Mar;131:1-8. doi: 10.1016/j.eplepsyres.2017.02.001. Epub 2017 Feb 7.

PMID:
28199897
43.

FOXP2-Related Speech and Language Disorders.

Morgan A, Fisher SE, Scheffer I, Hildebrand M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2016 Jun 23 [updated 2017 Feb 2].

44.

Clarification of Photorespiratory Processes and the Role of Malic Enzyme in Diatoms.

Davis A, Abbriano R, Smith SR, Hildebrand M.

Protist. 2017 Feb;168(1):134-153. doi: 10.1016/j.protis.2016.10.005. Epub 2016 Oct 21.

PMID:
28104538
45.

Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum.

Damiano JA, Burgess R, Kivity S, Lerman-Sagie T, Afawi Z, Scheffer IE, Berkovic SF, Hildebrand MS.

Epilepsia. 2017 Mar;58(3):e40-e43. doi: 10.1111/epi.13666. Epub 2017 Jan 18.

46.

De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome.

Myers KA, Burgess R, Afawi Z, Damiano JA, Berkovic SF, Hildebrand MS, Scheffer IE.

Epilepsia. 2017 Feb;58(2):e26-e30. doi: 10.1111/epi.13649. Epub 2017 Jan 13.

47.

Abstinence in HIV prevention: science and sophistry - Authors' reply.

Buse K, Hawkes S, Hildebrand M.

Lancet Glob Health. 2017 Jan;5(1):e31. doi: 10.1016/S2214-109X(16)30294-7. No abstract available.

48.

Genome and methylome of the oleaginous diatom Cyclotella cryptica reveal genetic flexibility toward a high lipid phenotype.

Traller JC, Cokus SJ, Lopez DA, Gaidarenko O, Smith SR, McCrow JP, Gallaher SD, Podell S, Thompson M, Cook O, Morselli M, Jaroszewicz A, Allen EE, Allen AE, Merchant SS, Pellegrini M, Hildebrand M.

Biotechnol Biofuels. 2016 Nov 25;9:258. eCollection 2016.

49.

Potentiation of Synaptic GluN2B NMDAR Currents by Fyn Kinase Is Gated through BDNF-Mediated Disinhibition in Spinal Pain Processing.

Hildebrand ME, Xu J, Dedek A, Li Y, Sengar AS, Beggs S, Lombroso PJ, Salter MW.

Cell Rep. 2016 Dec 6;17(10):2753-2765. doi: 10.1016/j.celrep.2016.11.024.

50.

Reflections on the national patient-reported outcome measures (PROMs) programme: Where do we go from here?

Kyte D, Cockwell P, Lencioni M, Skrybant M, Hildebrand MV, Price G, Squire K, Webb S, Brookes O, Fanning H, Jones T, Calvert M.

J R Soc Med. 2016 Dec;109(12):441-445. No abstract available.

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