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DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Lavillaureix A, Rollier P, Kim A, Panasenkava V, De Tayrac M, Carré W, Guyodo H, Faoucher M, Poirel E, Akloul L, Quélin C, Whalen S, Bos J, Broekema M, van Hagen JM, Grand K, Allen-Sharpley M, Magness E, McLean SD, Kayserili H, Altunoglu U, En Qi Chong A, Xue S, Jeanne M, Almontashiri N, Habhab W, Vanlerberghe C, Faivre L, Viora-Dupont E, Philippe C, Safraou H, Laffargue F, Mittendorf L, Abou Jamra R, Patil SJ, Dalal A, Sarma AS, Keren B, Reversade B, Dubourg C, Odent S, Dupé V. Lavillaureix A, et al. Among authors: broekema m. Genet Med. 2024 Jul;26(7):101126. doi: 10.1016/j.gim.2024.101126. Epub 2024 Mar 24. Genet Med. 2024. PMID: 38529886 Free article.
Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families.
Schreurs MAC, Schmidt MK, Hollestelle A, Schaapveld M, van Asperen CJ, Ausems MGEM, van de Beek I, Broekema MF, Margriet Collée J, van der Hout AH, van Kaam KJAF, Komdeur FL, Mensenkamp AR, Adank MA, Hooning MJ; Hereditary Breast and Ovarian Cancer Research Group Netherlands. Schreurs MAC, et al. Among authors: broekema mf. Genet Med. 2024 Sep;26(9):101171. doi: 10.1016/j.gim.2024.101171. Epub 2024 May 31. Genet Med. 2024. PMID: 38828701 Free article.
A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia.
Dannenberg F, Von Moers A, Bittigau P, Lange J, Wiegand S, Török F, Stölting G, Striessnig J, Motazacker MM, Broekema MF, Schuelke M, Kaindl AM, Scholl UI, Ortner NJ. Dannenberg F, et al. Among authors: broekema mf. Neurol Genet. 2024 Sep 6;10(5):e200186. doi: 10.1212/NXG.0000000000200186. eCollection 2024 Oct. Neurol Genet. 2024. PMID: 39246741 Free PMC article.
Discovery of Novel TLR7 Agonists as Systemic Agent for Combination With aPD1 for Use in Immuno-oncology.
Poudel YB, He L, Cox M, Zhang Q, Johnson WL, Cong Q, Cheng H, Chowdari NS, Tarby C, Donnell AF, Broekema M, O'Malley DP, Zhang Y, A M Subbaiah M, Kumar BV, Subramani L, Wang B, Li YX, Sivaprakasam P, Critton D, Mulligan D, Sandhu B, Xie C, Ramakrishnan R, Nagar J, Dudhgaonkar S, Oderinde MS, Murtaza A, Schieven GL, Mathur A, Gavai AV, Vite G, Gangwar S. Poudel YB, et al. Among authors: broekema m. ACS Med Chem Lett. 2024 Jan 8;15(2):181-188. doi: 10.1021/acsmedchemlett.3c00455. eCollection 2024 Feb 8. ACS Med Chem Lett. 2024. PMID: 38352830
PPARγ lipodystrophy mutants reveal intermolecular interactions required for enhancer activation.
Madsen MS, Broekema MF, Madsen MR, Koppen A, Borgman A, Gräwe C, Thomsen EGK, Westland D, Kranendonk MEG, Koerkamp MG, Hamers N, Bonvin AMJJ, Pittol JMR, Natarajan KN, Kersten S, Holstege FCP, Monajemi H, van Mil SWC, Vermeulen M, Kragelund BB, Cassiman D, Mandrup S, Kalkhoven E. Madsen MS, et al. Among authors: broekema mf. Nat Commun. 2022 Nov 19;13(1):7090. doi: 10.1038/s41467-022-34766-9. Nat Commun. 2022. PMID: 36402763 Free PMC article.
Natural helix 9 mutants of PPARγ differently affect its transcriptional activity.
Broekema MF, Massink MPG, Donato C, de Ligt J, Schaarschmidt J, Borgman A, Schooneman MG, Melchers D, Gerding MN, Houtman R, Bonvin AMJJ, Majithia AR, Monajemi H, van Haaften GW, Soeters MR, Kalkhoven E. Broekema MF, et al. Mol Metab. 2019 Feb;20:115-127. doi: 10.1016/j.molmet.2018.12.005. Epub 2018 Dec 16. Mol Metab. 2019. PMID: 30595551 Free PMC article.
A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy.
Broekema MF, Massink MPG, De Ligt J, Stigter ECA, Monajemi H, De Ridder J, Burgering BMT, van Haaften GW, Kalkhoven E. Broekema MF, et al. Front Physiol. 2018 Sep 26;9:1363. doi: 10.3389/fphys.2018.01363. eCollection 2018. Front Physiol. 2018. PMID: 30319454 Free PMC article.
35 results