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21 results

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Page 1
Prevalence and Patient Characteristics of Ectodermal Dysplasias in Denmark.
Herlin LK, Schmidt SAJ, Hermann XB, Rønholt K, Bygum A, Schuster A, Lei U, Mogensen M, Vinding GR, Djursby M, Hove H, Blechingberg J, Graversen L, Mogensen TH, Gjørup H, Langan SM, Sommerlund M. Herlin LK, et al. Among authors: graversen l. JAMA Dermatol. 2024 May 1;160(5):502-510. doi: 10.1001/jamadermatol.2024.0036. JAMA Dermatol. 2024. PMID: 38477886
Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers.
Joo JE, Mahmood K, Walker R, Georgeson P, Candiloro I, Clendenning M, Como J, Joseland S, Preston S, Graversen L, Wilding M, Field M, Lemon M, Wakeling J, Marfan H, Susman R, Isbister J, Edwards E, Bowman M, Kirk J, Ip E, McKay L, Antill Y, Hopper JL, Boussioutas A, Macrae FA, Dobrovic A, Jenkins MA, Rosty C, Winship IM, Buchanan DD. Joo JE, et al. Among authors: graversen l. Clin Epigenetics. 2023 Jun 3;15(1):95. doi: 10.1186/s13148-023-01511-y. Clin Epigenetics. 2023. PMID: 37270516 Free PMC article.
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.
Herlin LK, Herlin MK, Blechingberg J, Rønholt K, Graversen L, Schmidt SAJ, Jørgensen MW, Hellfritzsch MB, Hald JD, Beck-Nielsen SS, Gjørup H, Andersen BN, Gregersen PA, Sommerlund M. Herlin LK, et al. Among authors: graversen l. Eur J Med Genet. 2024 Jun;69:104937. doi: 10.1016/j.ejmg.2024.104937. Epub 2024 Apr 2. Eur J Med Genet. 2024. PMID: 38574886 Free article.
Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data.
Frederiksen JH, Birkedal U, Bachmann S, Eliesen EV, Rasmussen LJ, Pedersen KV, Al-Zehhawi L, Boonen SE, Krogh L, Rønlund K, Graversen L, Assenholt J, Schmiegelow K, Wadt K, Gerdes AM, Hansen TVO. Frederiksen JH, et al. Among authors: graversen l. Mol Genet Genomic Med. 2024 Nov;12(11):e70026. doi: 10.1002/mgg3.70026. Mol Genet Genomic Med. 2024. PMID: 39548353 Free PMC article.
Novel TRPV4 variant causes a severe form of metatropic dysplasia.
Graversen L, Haagerup A, Andersen BN, Petersen KK, Gjørup V, Gudmundsdottir G, Vogel I, Gregersen PA. Graversen L, et al. Clin Case Rep. 2018 Jul 20;6(9):1774-1778. doi: 10.1002/ccr3.1598. eCollection 2018 Sep. Clin Case Rep. 2018. PMID: 30214761 Free PMC article.
Hailey-Hailey Disease Caused by a Novel Deep Intronic Variant in ATP2C1.
Blechingberg J, Terkelsen T, Jensen UB, Rønholt K, Sommerlund M, Vinter H, Graversen L. Blechingberg J, et al. Among authors: graversen l. Am J Med Genet A. 2024 Nov 10:e63933. doi: 10.1002/ajmg.a.63933. Online ahead of print. Am J Med Genet A. 2024. PMID: 39523677
21 results