Lillis S - Search Results

1

Post-mortem Characterisation of a Case With an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia.

Vontell R, Supramaniam VG, Davidson A, Thornton C, Marnerides A, Holder-Espinasse M, Lillis S, Yau S, Jansson M, Hagberg HE, Rutherford MA. Vontell R, et al. Among authors: lillis s. Front Physiol. 2019 May 24;10:623. doi: 10.3389/fphys.2019.00623. eCollection 2019. Front Physiol. 2019. PMID: 31231230 Free PMC article.

2

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.

Hamilton MJ, Newbury-Ecob R, Holder-Espinasse M, Yau S, Lillis S, Hurst JA, Clement E, Reardon W, Joss S, Hobson E, Blyth M, Al-Shehhi M, Lynch SA, Suri M; DDD Study. Hamilton MJ, et al. Among authors: lillis s. Clin Dysmorphol. 2016 Oct;25(4):135-45. doi: 10.1097/MCD.0000000000000143. Clin Dysmorphol. 2016. PMID: 27465822

3

Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.

Sabir AH, Morley E, Sheikh J, Calder AD, Beleza-Meireles A, Cheung MS, Cocca A, Jansson M, Lillis S, Patel Y, Yau S, Hall CM, Offiah AC, Irving M. Sabir AH, et al. Among authors: lillis s. BMC Med Genomics. 2021 Jun 6;14(1):148. doi: 10.1186/s12920-021-00993-0. BMC Med Genomics. 2021. PMID: 34092239 Free PMC article.

4

Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations.

Klein A, Jungbluth H, Clement E, Lillis S, Abbs S, Munot P, Pane M, Wraige E, Schara U, Straub V, Mercuri E, Muntoni F. Klein A, et al. Among authors: lillis s. Arch Neurol. 2011 Sep;68(9):1171-9. doi: 10.1001/archneurol.2011.188. Arch Neurol. 2011. PMID: 21911697

5

Study of Acute Liver Failure in Children Using Next Generation Sequencing Technology.

Hegarty R, Gibson P, Sambrotta M, Strautnieks S, Foskett P, Ellard S, Baptista J, Lillis S, Bansal S, Vara R, Dhawan A, Grammatikopoulos T, Thompson RJ. Hegarty R, et al. Among authors: lillis s. J Pediatr. 2021 Sep;236:124-130. doi: 10.1016/j.jpeds.2021.05.041. Epub 2021 May 21. J Pediatr. 2021. PMID: 34023347

6

King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Dowling JJ, Lillis S, Amburgey K, Zhou H, Al-Sarraj S, Buk SJ, Wraige E, Chow G, Abbs S, Leber S, Lachlan K, Baralle D, Taylor A, Sewry C, Muntoni F, Jungbluth H. Dowling JJ, et al. Among authors: lillis s. Neuromuscul Disord. 2011 Jun;21(6):420-7. doi: 10.1016/j.nmd.2011.03.006. Epub 2011 Apr 22. Neuromuscul Disord. 2011. PMID: 21514828

7

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.

Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet PY, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F. Klein A, et al. Among authors: lillis s. Hum Mutat. 2012 Jun;33(6):981-8. doi: 10.1002/humu.22056. Epub 2012 Apr 4. Hum Mutat. 2012. PMID: 22473935

8

A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance.

Astrea G, Munteanu I, Cassandrini D, Lillis S, Trovato R, Pegoraro E, Cioni G, Mercuri E, Muntoni F, Battini R. Astrea G, et al. Among authors: lillis s. Pediatr Neurol. 2015 May;52(5):548-51. doi: 10.1016/j.pediatrneurol.2015.01.018. Epub 2015 Feb 7. Pediatr Neurol. 2015. PMID: 25882082

9

Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.

Jungbluth H, Lillis S, Zhou H, Abbs S, Sewry C, Swash M, Muntoni F. Jungbluth H, et al. Among authors: lillis s. Neuromuscul Disord. 2009 May;19(5):344-7. doi: 10.1016/j.nmd.2009.02.005. Epub 2009 Mar 19. Neuromuscul Disord. 2009. PMID: 19303294

10

Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation.

Jungbluth H, Cullup T, Lillis S, Zhou H, Abbs S, Sewry C, Muntoni F. Jungbluth H, et al. Among authors: lillis s. Neuromuscul Disord. 2010 Jan;20(1):49-52. doi: 10.1016/j.nmd.2009.10.005. Epub 2009 Nov 22. Neuromuscul Disord. 2010. PMID: 19932620

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