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Paediatric & Primary Lymphoedema (PPL-WG)
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Research Publications

Our publications cover a wide range of topics, including the latest research on diagnostic tools, innovative therapies, and management strategies for rare vascular diseases. This page provides a list of publications from the Pediatric and Primary Lymphedema Working Group (PPL-WG) to help researchers and healthcare professionals stay up-to-date on the latest developments in the field.

Results (7)
The VASCERN PPL working group patient pathway for primary and paediatric lymphoedema
December 23 2023

Devoogdt N, Thomis S, Belva F, Dickinson-Blok J, Fourgeaud C, Giacalone G, Karlsmark T, Kavola H, Keeley V, Marques ML, Mansour S, Nissen CV, Nørregaard S, Oberlin M, Ručigaj TP, Somalo-Barranco G, Suominen S, Van Duinen K, Vignes S, Damstra R. The VASCERN PPL working group patient pathway for primary and paediatric lymphoedema. Eur J Med Genet. 2024 Dec 23;67:104905. doi: 10.1016/j.ejmg.2023.104905. Epub ahead of print. PMID: 38143023.

Consensus recommendations on lymphedema in Phelan-McDermid syndrome
April 17 2023

Damstra RJ, Vignes S; European Phelan-McDermid syndrome consortium; Mansour S. Consensus recommendations on lymphedema in Phelan-McDermid syndrome. Eur J Med Genet. 2023 Jun;66(6):104767. doi: 10.1016/j.ejmg.2023.104767. Epub 2023 Apr 17. PMID: 37075886.

Paediatric lymphoedema: An audit of patients seen by the paediatric and primary lymphoedema group of vascular European Reference Network (VASCERN)
October 13 2022

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. Paediatric lymphoedema: An audit of patients seen by the paediatric and primary lymphoedema group of vascular European Reference Network (VASCERN). Eur J Med Genet. 2022 Dec;65(12):104641. doi: 10.1016/j.ejmg.2022.104641. Epub 2022 Oct 13. PMID: 36243335.

The ICC Compression Questionnaire: A Comprehensive Tool to Evaluate Compression Materials or Devices Applied in Subjects with Lymphedema or Chronic Venous Disease
April 20 2022

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. The ICC Compression Questionnaire: A Comprehensive Tool to Evaluate Compression Materials or Devices Applied in Subjects with Lymphedema or Chronic Venous Disease. Lymphat Res Biol. 2022 Apr;20(2):191-202. doi: 10.1089/lrb.2020.0125. Epub 2021 Mar 30. PMID: 33781091; PMCID: PMC9081015.

Primary lymphoedema
October 21 2021

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

Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis
May 14 2020

Gordon K, Varney R, Keeley V, Riches K, Jeffery S, Van Zanten M, Mortimer P, Ostergaard P, Mansour S. Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis. J Med Genet. 2020 Oct;57(10):653-659. doi: 10.1136/jmedgenet-2019-106084. Epub 2020 May 14. PMID: 32409509; PMCID: PMC7525776.

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis
September 03 2015

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. Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. 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.

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