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Page 1
A mild form of Stickler syndrome type II caused by mosaicism of COL11A1.
Lauritsen KF, Lildballe DL, Coucke PJ, Monrad R, Larsen DA, Gregersen PA. Lauritsen KF, et al. Among authors: gregersen pa. Eur J Med Genet. 2017 May;60(5):275-278. doi: 10.1016/j.ejmg.2017.03.005. Epub 2017 Mar 14. Eur J Med Genet. 2017. PMID: 28315471
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. Among authors: gregersen pa. 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.
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
Jønch AE, Douard E, Moreau C, Van Dijck A, Passeggeri M, Kooy F, Puechberty J, Campbell C, Sanlaville D, Lefroy H, Richetin S, Pain A, Geneviève D, Kini U, Le Caignec C, Lespinasse J, Skytte AB, Isidor B, Zweier C, Caberg JH, Delrue MA, Møller RS, Bojesen A, Hjalgrim H, Brasch-Andersen C, Lemyre E, Ousager LB, Jacquemont S; 15q11.2 Working Group. Jønch AE, et al. J Med Genet. 2019 Oct;56(10):701-710. doi: 10.1136/jmedgenet-2018-105879. Epub 2019 Aug 26. J Med Genet. 2019. PMID: 31451536 Free PMC article.
Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
Faergeman SL, Bojesen AB, Rasmussen M, Becher N, Andreasen L, Andersen BN, Erbs E, Lildballe DL, Nielsen JEK, Zilmer M, Hammer TB, Andersen MØ, Brasch-Andersen C, Fagerberg CR, Illum NO, Thorup MB, Gregersen PA. Faergeman SL, et al. Among authors: gregersen pa. Eur J Med Genet. 2021 Sep;64(9):104280. doi: 10.1016/j.ejmg.2021.104280. Epub 2021 Jul 3. Eur J Med Genet. 2021. PMID: 34229113
B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient.
Bolund ACS, Langdahl B, Laurberg TB, Hellfritzsch MB, Gjørup H, Møller-Madsen B, Nielsen TØ, Farholt S, Gregersen PA. Bolund ACS, et al. Among authors: gregersen pa. Eur J Med Genet. 2021 Dec;64(12):104342. doi: 10.1016/j.ejmg.2021.104342. Epub 2021 Sep 16. Eur J Med Genet. 2021. PMID: 34537402 Free article. Review.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE. van der Sluijs PJ, et al. Among authors: gregersen pa. Genet Med. 2022 Aug;24(8):1753-1760. doi: 10.1016/j.gim.2022.04.010. Epub 2022 May 18. Genet Med. 2022. PMID: 35579625 Free PMC article.
54 results