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Page 1
Rare germline variants in childhood cancer patients suspected of genetic predisposition to cancer.
Sylvester DE, Chen Y, Grima N, Saletta F, Padhye B, Bennetts B, Wright D, Krivanek M, Graf N, Zhou L, Catchpoole D, Kirk J, Latchoumanin O, Qiao L, Ballinger M, Thomas D, Jamieson R, Dalla-Pozza L, Byrne JA. Sylvester DE, et al. Among authors: krivanek m. Genes Chromosomes Cancer. 2022 Feb;61(2):81-93. doi: 10.1002/gcc.23006. Epub 2021 Oct 30. Genes Chromosomes Cancer. 2022. PMID: 34687117
Aneurysmal Bone Cyst of the Orbit With USP6 Gene Rearrangement.
Phan T, Tong J, Krivanek M, Graf N, Dexter M, Tumuluri K. Phan T, et al. Among authors: krivanek m. Ophthalmic Plast Reconstr Surg. 2023 May-Jun 01;39(3):206-210. doi: 10.1097/IOP.0000000000002287. Epub 2022 Oct 20. Ophthalmic Plast Reconstr Surg. 2023. PMID: 36356178 Review.
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics; Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H; Genomic Autopsy Study Research Network; McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS. Byrne AB, et al. Nat Med. 2023 Jan;29(1):180-189. doi: 10.1038/s41591-022-02142-1. Epub 2023 Jan 19. Nat Med. 2023. PMID: 36658419 Free PMC article.
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics; Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H; Genomic Autopsy Study Research Network; McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS. Byrne AB, et al. Nat Med. 2024 Jan;30(1):302. doi: 10.1038/s41591-023-02487-1. Nat Med. 2024. PMID: 37429925 No abstract available.
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.
Ravenscroft G, Nolent F, Rajagopalan S, Meireles AM, Paavola KJ, Gaillard D, Alanio E, Buckland M, Arbuckle S, Krivanek M, Maluenda J, Pannell S, Gooding R, Ong RW, Allcock RJ, Carvalho ED, Carvalho MD, Kok F, Talbot WS, Melki J, Laing NG. Ravenscroft G, et al. Among authors: krivanek m. Am J Hum Genet. 2015 Jun 4;96(6):955-61. doi: 10.1016/j.ajhg.2015.04.014. Epub 2015 May 21. Am J Hum Genet. 2015. PMID: 26004201 Free PMC article.
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy.
Bennett MF, Hildebrand MS, Kayumi S, Corbett MA, Gupta S, Ye Z, Krivanek M, Burgess R, Henry OJ, Damiano JA, Boys A, Gécz J, Bahlo M, Scheffer IE, Berkovic SF. Bennett MF, et al. Among authors: krivanek m. Neurol Genet. 2022 Jan 25;8(1):e652. doi: 10.1212/NXG.0000000000000652. eCollection 2022 Feb. Neurol Genet. 2022. PMID: 35097204 Free PMC article.
Pediatric Subcutaneous Panniculitis-like T-cell Lymphoma of the Orbit.
Tong JY, Powys M, Phan T, Krivanek M, Kellie SJ, Tumuluri K. Tong JY, et al. Among authors: krivanek m. Ophthalmic Plast Reconstr Surg. 2022 Mar-Apr 01;38(2):e38-e41. doi: 10.1097/IOP.0000000000002075. Ophthalmic Plast Reconstr Surg. 2022. PMID: 34652312
28 results