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ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.
Lemire G, Ito YA, Marshall AE, Chrestian N, Stanley V, Brady L, Tarnopolsky M, Curry CJ, Hartley T, Mears W, Derksen A, Rioux N, Laflamme N, Hutchison HT, Pais LS, Zaki MS, Sultan T, Dane AD; Care4Rare Canada Consortium; Gleeson JG, Vaz FM, Kernohan KD, Bernard G, Boycott KM. Lemire G, et al. Among authors: hutchison ht. Am J Hum Genet. 2021 Oct 7;108(10):2017-2023. doi: 10.1016/j.ajhg.2021.09.005. Epub 2021 Sep 28. Am J Hum Genet. 2021. PMID: 34587489 Free PMC article.
Skill mix alive and well.
Hutchison H. Hutchison H. Br Dent J. 2020 Jun;228(11):813. doi: 10.1038/s41415-020-1731-3. Br Dent J. 2020. PMID: 32541707 Free PMC article. No abstract available.
Assessment of local tissue water in the arms and trunk of breast cancer survivors with and without upper extremity lymphoedema.
Mazor M, Smoot BJ, Mastick J, Mausisa G, Paul SM, Kober KM, Elboim C, Singh K, Conley YP, Mickevicius G, Field J, Hutchison H, Miaskowski C. Mazor M, et al. Among authors: hutchison h. Clin Physiol Funct Imaging. 2019 Jan;39(1):57-64. doi: 10.1111/cpf.12541. Epub 2018 Sep 12. Clin Physiol Funct Imaging. 2019. PMID: 30207039 Free PMC article.
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ; DDD Study; Raymond LF, Rideout AL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, Stavropoulos DJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT. Chaudhry A, et al. Among authors: hutchison ht. Clin Genet. 2015 Sep;88(3):224-33. doi: 10.1111/cge.12482. Epub 2014 Oct 14. Clin Genet. 2015. PMID: 25131214
86 results