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Home - Network - Working Groups - Rare Disease Working Groups - Paediatric & Primary Lymphoedema (PPL-WG) - Research
Paediatric & Primary Lymphoedema (PPL-WG)
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Research

Year 1: Collaborative Publications 

No collaborative publications from the PPL-WG between March 2017-February 2018.

Year 2: Collaborative Publications 

No collaborative publications from the PPL-WG between March 2018-February 2019.

Year 3-4: Collaborative Publications 

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. Fotiou E, Martin-Almedina S, Simpson MA, Lin S, Gordon K, Brice G, Atton G, Jeffery I, Rees DC, Mignot C, Vogt J, Homfray T, Snyder MP, Rockson SG, Jeffery S, Mortimer PS, Mansour S, Ostergaard P. Nat Commun. 2015 Sep 3;6:8085. doi: 10.1038/ncomms9085. Erratum in: Nat Commun. 2019 Apr 26;10(1):1951. PMID: 26333996; PMCID: PMC4568316.

Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis. Gordon K, Varney R, Keeley V, Riches K, Jeffery S, Van Zanten M, Mortimer P, Ostergaard P, Mansour S. J Med Genet. 2020 May 14:jmedgenet-2019-106084. doi: 10.1136/jmedgenet-2019-106084. Online ahead of print.PMID: 32409509

Primary lymphoedema. Brouillard P, Witte MH, Erickson RP, Damstra RJ, Becker C, Quéré I, Vikkula M. Nat Rev Dis Primers. 2021 Oct 21;7(1):77. doi: 10.1038/s41572-021-00309-7. PMID: 34675250.

Year 5: Collaborative Publications 

The ICC Compression Questionnaire: A Comprehensive Tool to Evaluate Compression Materials or Devices Applied in Subjects with Lymphedema or Chronic Venous Disease. Devoogdt N, Partsch H, Heroes AK, De Vrieze T, De Groef A, Geraerts I, Damstra RJ, Hafner J, Keeley V, Becker A, Mosti G, Brouwer E, Thomis S. Lymphat Res Biol. 2022 Apr;20(2):191-202. doi: 10.1089/lrb.2020.0125. Epub 2021 Mar 30. PMID: 33781091; PMCID: PMC9081015.

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. Eur J Med Genet. 2022 Dec;65(12):104641. doi: 10.1016/j.ejmg.2022.104641. Epub 2022 Oct 13. PMID: 36243335.

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