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211 results

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Page 1
Nosology of genetic skeletal disorders: 2023 revision.
Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A. Unger S, et al. Among authors: sillence d. Am J Med Genet A. 2023 May;191(5):1164-1209. doi: 10.1002/ajmg.a.63132. Epub 2023 Feb 13. Am J Med Genet A. 2023. PMID: 36779427 Free PMC article.
Kazimierz Stanislaw Kozlowski (1928‑2022).
Sillence DO. Sillence DO. Pediatr Radiol. 2023 Jul;53(8):1728-1729. doi: 10.1007/s00247-023-05677-8. Epub 2023 May 3. Pediatr Radiol. 2023. PMID: 37133534 No abstract available.
Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features.
Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Kegler MS, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Haußer I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U. Reversade B, et al. Among authors: sillence d. Nat Genet. 2022 Feb;54(2):213. doi: 10.1038/s41588-022-01013-2. Nat Genet. 2022. PMID: 35064218 Free article. No abstract available.
Effect of antidepressant drugs on the brain sphingolipid system.
Jaddoa E, Masania J, Masiero E, Sgamma T, Arroo R, Sillence D, Zetterström T. Jaddoa E, et al. Among authors: sillence d. J Psychopharmacol. 2020 Jul;34(7):716-725. doi: 10.1177/0269881120915412. Epub 2020 May 14. J Psychopharmacol. 2020. PMID: 32403969
Intellectual functioning in alpha-mannosidosis.
Cathey SS, Sarasua SM, Simensen R, Pietris K, Kimbrell G, Sillence D, Wilson C, Horowitz L. Cathey SS, et al. Among authors: sillence d. JIMD Rep. 2019 Sep 21;50(1):44-49. doi: 10.1002/jmd2.12073. eCollection 2019 Nov. JIMD Rep. 2019. PMID: 31741826 Free PMC article.
Nosology and classification of genetic skeletal disorders: 2019 revision.
Mortier GR, Cohn DH, Cormier-Daire V, Hall C, Krakow D, Mundlos S, Nishimura G, Robertson S, Sangiorgi L, Savarirayan R, Sillence D, Superti-Furga A, Unger S, Warman ML. Mortier GR, et al. Among authors: sillence d. Am J Med Genet A. 2019 Dec;179(12):2393-2419. doi: 10.1002/ajmg.a.61366. Epub 2019 Oct 21. Am J Med Genet A. 2019. PMID: 31633310
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
Cameron-Christie SR, Wells CF, Simon M, Wessels M, Tang CZN, Wei W, Takei R, Aarts-Tesselaar C, Sandaradura S, Sillence DO, Cordier MP, Veenstra-Knol HE, Cassina M, Ludwig K, Trevisson E, Bahlo M, Markie DM, Jenkins ZA, Robertson SP. Cameron-Christie SR, et al. Among authors: sillence do. Am J Hum Genet. 2019 Sep 5;105(3):669. doi: 10.1016/j.ajhg.2019.08.007. Am J Hum Genet. 2019. PMID: 31491409 Free PMC article. No abstract available.
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.
Ewans LJ, Colley A, Gaston-Massuet C, Gualtieri A, Cowley MJ, McCabe MJ, Anand D, Lachke SA, Scietti L, Forneris F, Zhu Y, Ying K, Walsh C, Kirk EP, Miller D, Giunta C, Sillence D, Dinger M, Buckley M, Roscioli T. Ewans LJ, et al. Among authors: sillence d. J Med Genet. 2019 Sep;56(9):629-638. doi: 10.1136/jmedgenet-2019-106019. Epub 2019 May 25. J Med Genet. 2019. PMID: 31129566 Review.
211 results