Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

198 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.
Hildebrand JM, Kauppi M, Majewski IJ, Liu Z, Cox AJ, Miyake S, Petrie EJ, Silk MA, Li Z, Tanzer MC, Brumatti G, Young SN, Hall C, Garnish SE, Corbin J, Stutz MD, Di Rago L, Gangatirkar P, Josefsson EC, Rigbye K, Anderton H, Rickard JA, Tripaydonis A, Sheridan J, Scerri TS, Jackson VE, Czabotar PE, Zhang JG, Varghese L, Allison CC, Pellegrini M, Tannahill GM, Hatchell EC, Willson TA, Stockwell D, de Graaf CA, Collinge J, Hilton A, Silke N, Spall SK, Chau D, Athanasopoulos V, Metcalf D, Laxer RM, Bassuk AG, Darbro BW, Fiatarone Singh MA, Vlahovich N, Hughes D, Kozlovskaia M, Ascher DB, Warnatz K, Venhoff N, Thiel J, Biben C, Blum S, Reveille J, Hildebrand MS, Vinuesa CG, McCombe P, Brown MA, Kile BT, McLean C, Bahlo M, Masters SL, Nakano H, Ferguson PJ, Murphy JM, Alexander WS, Silke J. Hildebrand JM, et al. Among authors: hildebrand ms. Nat Commun. 2020 Jun 19;11(1):3150. doi: 10.1038/s41467-020-16819-z. Nat Commun. 2020. PMID: 32561755 Free PMC article.
Cochlear implants for DFNA17 deafness.
Hildebrand MS, de Silva MG, Gardner RJ, Rose E, de Graaf CA, Bahlo M, Dahl HH. Hildebrand MS, et al. Laryngoscope. 2006 Dec;116(12):2211-5. doi: 10.1097/01.mlg.0000242089.72880.f8. Laryngoscope. 2006. PMID: 17146397
Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.
Hildebrand MS, Thorne NP, Bromhead CJ, Kahrizi K, Webster JA, Fattahi Z, Bataejad M, Kimberling WJ, Stephan D, Najmabadi H, Bahlo M, Smith RJ. Hildebrand MS, et al. Clin Genet. 2010 Jun;77(6):563-71. doi: 10.1111/j.1399-0004.2009.01344.x. Epub 2010 Feb 4. Clin Genet. 2010. PMID: 20132242 Free PMC article.
Evaluation of non-coding variation in GLUT1 deficiency.
Liu YC, Lee JW, Bellows ST, Damiano JA, Mullen SA, Berkovic SF, Bahlo M, Scheffer IE, Hildebrand MS; Clinical Group. Liu YC, et al. Among authors: hildebrand ms. Dev Med Child Neurol. 2016 Dec;58(12):1295-1302. doi: 10.1111/dmcn.13163. Epub 2016 Jun 6. Dev Med Child Neurol. 2016. PMID: 27265003 Free article.
Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.
Hildebrand MS, Griffin NG, Damiano JA, Cops EJ, Burgess R, Ozturk E, Jones NC, Leventer RJ, Freeman JL, Harvey AS, Sadleir LG, Scheffer IE, Major H, Darbro BW, Allen AS, Goldstein DB, Kerrigan JF, Berkovic SF, Heinzen EL. Hildebrand MS, et al. Am J Hum Genet. 2016 Aug 4;99(2):423-9. doi: 10.1016/j.ajhg.2016.05.031. Epub 2016 Jul 21. Am J Hum Genet. 2016. PMID: 27453577 Free PMC article.
Early neuroimaging markers of FOXP2 intragenic deletion.
Liégeois FJ, Hildebrand MS, Bonthrone A, Turner SJ, Scheffer IE, Bahlo M, Connelly A, Morgan AT. Liégeois FJ, et al. Among authors: hildebrand ms. Sci Rep. 2016 Oct 13;6:35192. doi: 10.1038/srep35192. Sci Rep. 2016. PMID: 27734906 Free PMC article.
Synaptic Zn2+ and febrile seizure susceptibility.
Reid CA, Hildebrand MS, Mullen SA, Hildebrand JM, Berkovic SF, Petrou S. Reid CA, et al. Among authors: hildebrand ms, hildebrand jm. Br J Pharmacol. 2017 Jan;174(2):119-125. doi: 10.1111/bph.13658. Epub 2016 Nov 28. Br J Pharmacol. 2017. PMID: 27771943 Free PMC article. Review.
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. Eising E, et al. Among authors: hildebrand ms. Mol Psychiatry. 2019 Jul;24(7):1065-1078. doi: 10.1038/s41380-018-0020-x. Epub 2018 Feb 20. Mol Psychiatry. 2019. PMID: 29463886 Free PMC article.
198 results