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Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.
Alpaslan M, Fastré E, Mestre S, van Haeringen A, Repetto GM, Keymolen K, Boon LM, Belva F, Giacalone G, Revencu N, Sznajer Y, Riches K, Keeley V, Mansour S, Gordon K, Martin-Almedina S, Dobbins S, Ostergaard P, Quere I, Brouillard P, Vikkula M. Alpaslan M, et al. Among authors: riches k. Hum Mol Genet. 2024 Jul 6;33(14):1250-1261. doi: 10.1093/hmg/ddae060. Hum Mol Genet. 2024. PMID: 38676400
Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts.
Mansour S, Josephs KS, Ostergaard P, Gordon K, Van Zanten M, Pearce J, Jeffery S, Keeley V, Riches K, Kreuter A, Wieland U, Hägerling R, Ratnam L, Sackey E, Grigoriadis D, Ho B, Smith F, Rauter E, Mortimer P, Macallan D. Mansour S, et al. Among authors: riches k. J Med Genet. 2023 Jan;60(1):84-90. doi: 10.1136/jmedgenet-2021-107820. Epub 2021 Dec 16. J Med Genet. 2023. PMID: 34916230 Free PMC article.
Paediatric lymphoedema: An audit of patients seen by the paediatric and primary lymphoedema group of vascular European Reference Network (VASCERN).
Devoogdt N, Van Zanten M, Damstra R, Van Duinen K, Dickinson-Blok JL, Thomis S, Giacalone G, Belva F, Suominen S, Kavola H, Oberlin M, Rossler J, Rucigaj TP, Riches K, Mansour S, Gordon K, Vignes S, Keeley V. Devoogdt N, et al. Among authors: riches k. Eur J Med Genet. 2022 Dec;65(12):104641. doi: 10.1016/j.ejmg.2022.104641. Epub 2022 Oct 13. Eur J Med Genet. 2022. PMID: 36243335 Free article.
Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort.
Grigoriadis D, Sackey E, Riches K, van Zanten M, Brice G, England R, Mills M, Dobbins SE, Lee LL; Lipoedema Consortium; Genomics England Research Consortium; Jeffery S, Dong L, Savage DB, Mortimer PS, Keeley V, Pittman A, Gordon K, Ostergaard P. Grigoriadis D, et al. Among authors: riches k. PLoS One. 2022 Oct 13;17(10):e0274867. doi: 10.1371/journal.pone.0274867. eCollection 2022. PLoS One. 2022. PMID: 36227936 Free PMC article.
Erythematous capillary-lymphatic malformations mimicking blood vascular anomalies.
Hägerling R, Van Zanten M, Behncke RY, Ulferts S, Hansmeier NR, Märkl B, Witzel C, Ho B, Keeley V, Riches K, Mansour S, Gordon K, Ostergaard P, Mortimer PS. Hägerling R, et al. Among authors: riches k. JCI Insight. 2023 Oct 23;8(20):e172179. doi: 10.1172/jci.insight.172179. JCI Insight. 2023. PMID: 37698920 Free PMC article.
82 results