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Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome.
Han JC, Thurm A, Golden Williams C, Joseph LA, Zein WM, Brooks BP, Butman JA, Brady SM, Fuhr SR, Hicks MD, Huey AE, Hanish AE, Danley KM, Raygada MJ, Rennert OM, Martinowich K, Sharp SJ, Tsao JW, Swedo SE. Han JC, et al. Among authors: butman ja. Cortex. 2013 Nov-Dec;49(10):2700-10. doi: 10.1016/j.cortex.2013.02.009. Epub 2013 Feb 19. Cortex. 2013. PMID: 23517654 Free PMC article.
Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry.
Sadeghi N, Hutchinson E, Van Ryzin C, FitzGibbon EJ, Butman JA, Webb BD, Facio F, Brooks BP, Collins FS, Jabs EW, Engle EC, Manoli I, Pierpaoli C; Moebius Syndrome Research Consortium. Sadeghi N, et al. Among authors: butman ja. Brain Commun. 2020;2(1):fcaa014. doi: 10.1093/braincomms/fcaa014. Epub 2020 Feb 14. Brain Commun. 2020. PMID: 32328577 Free PMC article.
Otolaryngologic markers for the early diagnosis of Turner syndrome.
Makishima T, King K, Brewer CC, Zalewski CK, Butman J, Bakalov VK, Bondy C, Griffith AJ. Makishima T, et al. Int J Pediatr Otorhinolaryngol. 2009 Nov;73(11):1564-7. doi: 10.1016/j.ijporl.2009.08.005. Epub 2009 Sep 3. Int J Pediatr Otorhinolaryngol. 2009. PMID: 19732968 Free PMC article.
SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct.
Ito T, Choi BY, King KA, Zalewski CK, Muskett J, Chattaraj P, Shawker T, Reynolds JC, Butman JA, Brewer CC, Wangemann P, Alper SL, Griffith AJ. Ito T, et al. Among authors: butman ja. Cell Physiol Biochem. 2011;28(3):545-52. doi: 10.1159/000335119. Epub 2011 Nov 18. Cell Physiol Biochem. 2011. PMID: 22116369 Free PMC article. Review.
Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: a cohort study to determine three- and five-year outcomes.
Sibley CH, Plass N, Snow J, Wiggs EA, Brewer CC, King KA, Zalewski C, Kim HJ, Bishop R, Hill S, Paul SM, Kicker P, Phillips Z, Dolan JG, Widemann B, Jayaprakash N, Pucino F, Stone DL, Chapelle D, Snyder C, Butman JA, Wesley R, Goldbach-Mansky R. Sibley CH, et al. Among authors: butman ja. Arthritis Rheum. 2012 Jul;64(7):2375-86. doi: 10.1002/art.34409. Arthritis Rheum. 2012. PMID: 22294344 Free PMC article. Clinical Trial.
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, Kittles R, Eisenman D, Kim HJ, Niparko J, Thomsen J, Arnos KS, Nance WE, King KA, Zalewski CK, Brewer CC, Shawker T, Reynolds JC, Butman JA, Karniski LP, Alper SL, Griffith AJ. Choi BY, et al. Among authors: butman ja. Hum Mutat. 2009 Apr;30(4):599-608. doi: 10.1002/humu.20884. Hum Mutat. 2009. PMID: 19204907 Free PMC article.
185 results