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Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.
Abdollahi MR, Morrison E, Sirey T, Molnar Z, Hayward BE, Carr IM, Springell K, Woods CG, Ahmed M, Hattingh L, Corry P, Pilz DT, Stoodley N, Crow Y, Taylor GR, Bonthron DT, Sheridan E. Abdollahi MR, et al. Among authors: hattingh l. Am J Hum Genet. 2009 Nov;85(5):737-44. doi: 10.1016/j.ajhg.2009.10.007. Epub 2009 Nov 5. Am J Hum Genet. 2009. PMID: 19896110 Free PMC article.
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.
Hartill VL, van de Hoek G, Patel MP, Little R, Watson CM, Berry IR, Shoemark A, Abdelmottaleb D, Parkes E, Bacchelli C, Szymanska K, Knoers NV, Scambler PJ, Ueffing M, Boldt K, Yates R, Winyard PJ, Adler B, Moya E, Hattingh L, Shenoy A, Hogg C, Sheridan E, Roepman R, Norris D, Mitchison HM, Giles RH, Johnson CA. Hartill VL, et al. Among authors: hattingh l. Hum Mol Genet. 2018 Feb 1;27(3):529-545. doi: 10.1093/hmg/ddx422. Hum Mol Genet. 2018. PMID: 29228333 Free PMC article.
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
Nguyen TTM, Murakami Y, Sheridan E, Ehresmann S, Rousseau J, St-Denis A, Chai G, Ajeawung NF, Fairbrother L, Reimschisel T, Bateman A, Berry-Kravis E, Xia F, Tardif J, Parry DA, Logan CV, Diggle C, Bennett CP, Hattingh L, Rosenfeld JA, Perry MS, Parker MJ, Le Deist F, Zaki MS, Ignatius E, Isohanni P, Lönnqvist T, Carroll CJ, Johnson CA, Gleeson JG, Kinoshita T, Campeau PM. Nguyen TTM, et al. Among authors: hattingh l. Am J Hum Genet. 2017 Nov 2;101(5):856-865. doi: 10.1016/j.ajhg.2017.09.020. Am J Hum Genet. 2017. PMID: 29100095 Free PMC article.
Long lines and atypical anatomy.
Pettinger KJ, Wordie AIC, Vas CJ, Hattingh L, Vasudevan C. Pettinger KJ, et al. Among authors: hattingh l. Arch Dis Child Educ Pract Ed. 2020 Dec;105(6):364-366. doi: 10.1136/archdischild-2018-316612. Epub 2019 Apr 4. Arch Dis Child Educ Pract Ed. 2020. PMID: 30948481 No abstract available.
Bilateral giant adrenal myelolipomas.
Kalidindi RS, Hattingh L. Kalidindi RS, et al. Among authors: hattingh l. Abdom Imaging. 2006 Jan-Feb;31(1):125-7. doi: 10.1007/s00261-005-0014-4. Abdom Imaging. 2006. PMID: 16245020
Don't forget the fornix.
Sidra M, Hattingh L, Ramadan H. Sidra M, et al. Among authors: hattingh l. Pract Neurol. 2021 Aug;21(4):336-337. doi: 10.1136/practneurol-2020-002802. Epub 2021 Mar 30. Pract Neurol. 2021. PMID: 33785563 No abstract available.
59 results