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Arteriovenous malformation Map2k1 mutation affects vasculogenesis.
Sudduth CL, Smits PJ, Vivero MP, Cheng YS, Ad M, Konczyk DJ, Bischoff J, Warman ML, Greene AK. Sudduth CL, et al. Among authors: smits pj. Sci Rep. 2023 Jul 8;13(1):11074. doi: 10.1038/s41598-023-35301-6. Sci Rep. 2023. PMID: 37422456 Free PMC article.
Bockenheimer disease is associated with a TEK variant.
Sudduth CL, Konczyk DJ, Smits PJ, Eng W, Al-Ibraheemi A, Upton J, Greene AK. Sudduth CL, et al. Among authors: smits pj. Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006119. doi: 10.1101/mcs.a006119. Print 2021 Dec. Cold Spring Harb Mol Case Stud. 2021. PMID: 34649969 Free PMC article.
Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant.
Eng W, Sudduth CL, Konczyk DJ, Smits PJ, Taghinia AH, Fishman SJ, Alomari A, Adams DM, Greene AK. Eng W, et al. Among authors: smits pj. Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006118. doi: 10.1101/mcs.a006118. Print 2021 Dec. Cold Spring Harb Mol Case Stud. 2021. PMID: 34607843 Free PMC article.
EPHB4 mutation causes adult and adolescent-onset primary lymphedema.
Greene AK, Brouillard P, Sudduth CL, Smits PJ, Konczyk DJ, Vikkula M. Greene AK, et al. Among authors: smits pj. Am J Med Genet A. 2021 Dec;185(12):3810-3813. doi: 10.1002/ajmg.a.62416. Epub 2021 Jul 7. Am J Med Genet A. 2021. PMID: 34231312
Lipoblastoma phenotype contains a somatic PIK3CA mutation.
Sudduth CL, Konczyk DJ, Al-Ibraheemi A, Smits PJ, Greene AK. Sudduth CL, et al. Among authors: smits pj. Pediatr Dermatol. 2021 Jan;38(1):299-300. doi: 10.1111/pde.14406. Epub 2020 Oct 9. Pediatr Dermatol. 2021. PMID: 33034408
Somatic mutations in intracranial arteriovenous malformations.
Goss JA, Huang AY, Smith E, Konczyk DJ, Smits PJ, Sudduth CL, Stapleton C, Patel A, Alexandrescu S, Warman ML, Greene AK. Goss JA, et al. Among authors: smits pj. PLoS One. 2019 Dec 31;14(12):e0226852. doi: 10.1371/journal.pone.0226852. eCollection 2019. PLoS One. 2019. PMID: 31891627 Free PMC article.
20 results