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78 results

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Page 1
Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta.
Batkovskyte D, Swolin-Eide D, Hammarsjö A, Sæther KB, Thunström S, Lundin J, Eisfeldt J, Lindstrand A, Nordgren A, Åström E, Grigelioniene G. Batkovskyte D, et al. Among authors: grigelioniene g. Am J Med Genet A. 2024 Nov 8:e63935. doi: 10.1002/ajmg.a.63935. Online ahead of print. Am J Med Genet A. 2024. PMID: 39513464
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Delgado-Vega AM, Cederroth H, Taylan F, Ekholm K, Ek M, Thonberg H, Jemt A, Nilsson D, Eisfeldt J, Bilgrav Saether K, Höijer I, Akgun-Dogan O, Asano Y, Barakat TS, Batkovskyte D, Baynam G, Bodamer O, Chetruengchai W, Corcoran P, Couse M, Danis D, Demidov G, Dohi E, Erhardsson M, Fernandez-Luna L, Fujiwara T, Garg N, Giugliani R, Gonzaga-Jauregui C, Grigelioniene G, Groza T, Gunnarsson C, Hammarsjö A, Hammond CK, Hatirnaz Ng Ö, Hesketh S, Hettiarachchi D, Johansson Soller M, Kirmani UA, Kjellberg M, Kvarnung M, Kvlividze O, Lagerstedt-Robinson K, Lasko P, Lassmann T, Lau LYS, Laurie S, Lim WK, Liu Z, Lysenkova Wiklander M, Makay P, Maiga AB, Maya-González C, Meyn MS, Neethiraj R, Nigro V, Nordgren F, Nordlund J, Orrsjö S, Ottosson J, Ozbek U, Özdemir Ö, Partin C, Pearce DA, Peck R, Pedersen A, Pettersson M, Pongpanich M, Posada de la Paz M, Ramani A, Romero JA, Romero VI, Rosenquist R, Saw AM, Spencer M, Stattin EL, Srichomthong C, Tapia-Paez I, Taruscio D, Taylor JP, Tkemaladze T, Tully I, Tümer Z, van Zelst-Stams WAG, Verloes A, Västerviga E, Wang S, Yang R, Yamamoto S, Yépez VA, Zhang Q, Shotelersuk V, Wiafe SA, Alanay Y, Botto LD, Kirmani S, Lumaka A, Palmer EE, Puri RD,… See abstract for full author list ➔ Delgado-Vega AM, et al. Among authors: grigelioniene g. Nat Genet. 2024 Nov;56(11):2287-2294. doi: 10.1038/s41588-024-01941-1. Nat Genet. 2024. PMID: 39433890 No abstract available.
Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect.
Gregersen PA, Hammarsjö A, Graversen L, Brix N, Lindelöf H, Jensen UB, Farholt S, Rubak S, Bjerre J, Piticchio SG, Terkelsen T, Nishimura G, Hellfritzsch MB, Grigelioniene G. Gregersen PA, et al. Among authors: grigelioniene g. Clin Genet. 2025 Jan;107(1):78-82. doi: 10.1111/cge.14616. Epub 2024 Sep 6. Clin Genet. 2025. PMID: 39239663 Free PMC article.
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.
Jacob P, Lindelöf H, Rustad CF, Sutton VR, Moosa S, Udupa P, Hammarsjö A, Bhavani GS, Batkovskyte D, Tveten K, Dalal A, Horemuzova E, Nordgren A, Tham E, Shah H, Merckoll E, Orellana L, Nishimura G, Girisha KM, Grigelioniene G. Jacob P, et al. Among authors: grigelioniene g. NPJ Genom Med. 2023 Nov 22;8(1):39. doi: 10.1038/s41525-023-00380-x. NPJ Genom Med. 2023. PMID: 37993442 Free PMC article.
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.
Garza Flores A, Nordgren I, Pettersson M, Dias-Santagata D, Nilsson D, Hammarsjö A, Lindstrand A, Batkovskyte D, Wiggs J, Walton DS, Goldenberg P, Eisfeldt J, Lin AE, Lachman RS, Nishimura G, Grigelioniene G. Garza Flores A, et al. Among authors: grigelioniene g. Front Genet. 2023 Jun 23;14:1174046. doi: 10.3389/fgene.2023.1174046. eCollection 2023. Front Genet. 2023. PMID: 37424725 Free PMC article.
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
Batkovskyte D, McKenzie F, Taylan F, Simsek-Kiper PO, Nikkel SM, Ohashi H, Stevenson RE, Ha T, Cavalcanti DP, Miyahara H, Skinner SA, Aguirre MA, Akçören Z, Utine GE, Chiu T, Shimizu K, Hammarsjö A, Boduroglu K, Moore HW, Louie RJ, Arts P, Merrihew AN, Babic M, Jackson MR, Papadogiannakis N, Lindstrand A, Nordgren A, Barnett CP, Scott HS, Chagin AS, Nishimura G, Grigelioniene G. Batkovskyte D, et al. Among authors: grigelioniene g. J Bone Miner Res. 2023 May;38(5):692-706. doi: 10.1002/jbmr.4799. Epub 2023 Mar 27. J Bone Miner Res. 2023. PMID: 36896612 Free article.
78 results