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Results: 1 to 20 of 50

1.

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.

Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; The 16p11.2 European Consortium, Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; The EPICURE Consortium, The EuroEPINOMICS Consortium, Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA.

Hum Mol Genet. 2014 Jun 16. pii: ddu306. [Epub ahead of print]

PMID:
24939913
[PubMed - as supplied by publisher]
2.

Glucose metabolism transporters and epilepsy: only GLUT1 has an established role.

Hildebrand MS, Damiano JA, Mullen SA, Bellows ST, Oliver KL, Dahl HH, Scheffer IE, Berkovic SF.

Epilepsia. 2014 Feb;55(2):e18-21. doi: 10.1111/epi.12519. Epub 2014 Jan 31.

PMID:
24483274
[PubMed - indexed for MEDLINE]
3.

Does variation in NIPA2 contribute to genetic generalized epilepsy?

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

Hum Genet. 2014 May;133(5):673-4. doi: 10.1007/s00439-013-1414-0. Epub 2014 Jan 10. No abstract available.

PMID:
24408008
[PubMed - indexed for MEDLINE]
4.

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

Kasperaviciute D, Catarino CB, Matarin M, Leu C, Novy J, Tostevin A, Leal B, Hessel EV, Hallmann K, Hildebrand MS, Dahl HH, Ryten M, Trabzuni D, Ramasamy A, Alhusaini S, Doherty CP, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Zumsteg D, Duncan S, Kälviäinen RK, Eriksson KJ, Kantanen AM, Pandolfo M, Gruber-Sedlmayr U, Schlachter K, Reinthaler EM, Stogmann E, Zimprich F, Théâtre E, Smith C, O'Brien TJ, Meng Tan K, Petrovski S, Robbiano A, Paravidino R, Zara F, Striano P, Sperling MR, Buono RJ, Hakonarson H, Chaves J, Costa PP, Silva BM, da Silva AM, de Graan PN, Koeleman BP, Becker A, Schoch S, von Lehe M, Reif PS, Rosenow F, Becker F, Weber Y, Lerche H, Rössler K, Buchfelder M, Hamer HM, Kobow K, Coras R, Blumcke I, Scheffer IE, Berkovic SF, Weale ME; UK Brain Expression Consortium, Delanty N, Depondt C, Cavalleri GL, Kunz WS, Sisodiya SM.

Brain. 2013 Oct;136(Pt 10):3140-50. doi: 10.1093/brain/awt233. Epub 2013 Sep 6.

PMID:
24014518
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

GRIN2A mutations cause epilepsy-aphasia spectrum disorders.

Carvill GL, Regan BM, Yendle SC, O'Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai MH, Webster R, Ouvrier R, Damiano JA, Berkovic SF, Shendure J, Hildebrand MS, Szepetowski P, Scheffer IE, Mefford HC.

Nat Genet. 2013 Sep;45(9):1073-6. doi: 10.1038/ng.2727. Epub 2013 Aug 11.

PMID:
23933818
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria.

Turner SJ, Hildebrand MS, Block S, Damiano J, Fahey M, Reilly S, Bahlo M, Scheffer IE, Morgan AT.

Am J Med Genet A. 2013 Sep;161(9):2321-6. doi: 10.1002/ajmg.a.36055. Epub 2013 Aug 5.

PMID:
23918746
[PubMed - indexed for MEDLINE]
7.

Advancing genetic testing for deafness with genomic technology.

Shearer AE, Black-Ziegelbein EA, Hildebrand MS, Eppsteiner RW, Ravi H, Joshi S, Guiffre AC, Sloan CM, Happe S, Howard SD, Novak B, Deluca AP, Taylor KR, Scheetz TE, Braun TA, Casavant TL, Kimberling WJ, Leproust EM, Smith RJ.

J Med Genet. 2013 Sep;50(9):627-34. doi: 10.1136/jmedgenet-2013-101749. Epub 2013 Jun 26.

PMID:
23804846
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Recent advances in the molecular genetics of epilepsy.

Hildebrand MS, Dahl HH, Damiano JA, Smith RJ, Scheffer IE, Berkovic SF.

J Med Genet. 2013 May;50(5):271-9. doi: 10.1136/jmedgenet-2012-101448. Epub 2013 Mar 6. Review.

PMID:
23468209
[PubMed - indexed for MEDLINE]
9.

CFTR-deficient pigs display peripheral nervous system defects at birth.

Reznikov LR, Dong Q, Chen JH, Moninger TO, Park JM, Zhang Y, Du J, Hildebrand MS, Smith RJ, Randak CO, Stoltz DA, Welsh MJ.

Proc Natl Acad Sci U S A. 2013 Feb 19;110(8):3083-8. doi: 10.1073/pnas.1222729110. Epub 2013 Feb 4.

PMID:
23382208
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.

Taylor KR, Deluca AP, Shearer AE, Hildebrand MS, Black-Ziegelbein EA, Anand VN, Sloan CM, Eppsteiner RW, Scheetz TE, Huygen PL, Smith RJ, Braun TA, Casavant TL.

Hum Mutat. 2013 Apr;34(4):539-45. doi: 10.1002/humu.22268. Epub 2013 Feb 19.

PMID:
23280582
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment.

Shearer AE, Hildebrand MS, Ravi H, Joshi S, Guiffre AC, Novak B, Happe S, LeProust EM, Smith RJ.

BMC Genomics. 2012 Nov 14;13:618. doi: 10.1186/1471-2164-13-618.

PMID:
23148716
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse.

Nakano Y, Jahan I, Bonde G, Sun X, Hildebrand MS, Engelhardt JF, Smith RJ, Cornell RA, Fritzsch B, Bánfi B.

PLoS Genet. 2012;8(10):e1002966. doi: 10.1371/journal.pgen.1002966. Epub 2012 Oct 4.

PMID:
23055939
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis.

Eppsteiner RW, Shearer AE, Hildebrand MS, Deluca AP, Ji H, Dunn CC, Black-Ziegelbein EA, Casavant TL, Braun TA, Scheetz TE, Scherer SE, Hansen MR, Gantz BJ, Smith RJ.

Hear Res. 2012 Oct;292(1-2):51-8. doi: 10.1016/j.heares.2012.08.007. Epub 2012 Aug 28.

PMID:
22975204
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Using the phenome and genome to improve genetic diagnosis for deafness.

Eppsteiner RW, Shearer AE, Hildebrand MS, Taylor KR, Deluca AP, Scherer S, Huygen P, Scheetz TE, Braun TA, Casavant TL, Smith RJ.

Otolaryngol Head Neck Surg. 2012 Nov;147(5):975-7. doi: 10.1177/0194599812454271. Epub 2012 Jul 11. No abstract available.

PMID:
22785243
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Solution-based targeted genomic enrichment for precious DNA samples.

Shearer AE, Hildebrand MS, Smith RJ.

BMC Biotechnol. 2012 May 4;12:20. doi: 10.1186/1472-6750-12-20.

PMID:
22559009
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Deafness in the genomics era.

Shearer AE, Hildebrand MS, Sloan CM, Smith RJ.

Hear Res. 2011 Dec;282(1-2):1-9. doi: 10.1016/j.heares.2011.10.001. Epub 2011 Oct 8. Review.

PMID:
22016077
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.

Smith KR, Bromhead CJ, Hildebrand MS, Shearer AE, Lockhart PJ, Najmabadi H, Leventer RJ, McGillivray G, Amor DJ, Smith RJ, Bahlo M.

Genome Biol. 2011 Sep 14;12(9):R85. doi: 10.1186/gb-2011-12-9-r85.

PMID:
21917141
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Viral vector tropism for supporting cells in the developing murine cochlea.

Sheffield AM, Gubbels SP, Hildebrand MS, Newton SS, Chiorini JA, Di Pasquale G, Smith RJ.

Hear Res. 2011 Jul;277(1-2):28-36. doi: 10.1016/j.heares.2011.03.016. Epub 2011 Apr 22.

PMID:
21530627
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

Hildebrand MS, Morín M, Meyer NC, Mayo F, Modamio-Hoybjor S, Mencía A, Olavarrieta L, Morales-Angulo C, Nishimura CJ, Workman H, DeLuca AP, del Castillo I, Taylor KR, Tompkins B, Goodman CW, Schrauwen I, Wesemael MV, Lachlan K, Shearer AE, Braun TA, Huygen PL, Kremer H, Van Camp G, Moreno F, Casavant TL, Smith RJ, Moreno-Pelayo MA.

Hum Mutat. 2011 Jul;32(7):825-34. doi: 10.1002/humu.21512. Epub 2011 Jun 7.

PMID:
21520338
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).

Zheng J, Miller KK, Yang T, Hildebrand MS, Shearer AE, DeLuca AP, Scheetz TE, Drummond J, Scherer SE, Legan PK, Goodyear RJ, Richardson GP, Cheatham MA, Smith RJ, Dallos P.

Proc Natl Acad Sci U S A. 2011 Mar 8;108(10):4218-23. doi: 10.1073/pnas.1005842108. Epub 2011 Feb 22.

PMID:
21368133
[PubMed - indexed for MEDLINE]
Free PMC Article

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