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American Journal of Medical Genetics. Part A|May 26, 2017
Renal anomalies and lymphedema distichiasis syndrome. A rare association?Gabriela E Jones, Anna K Richmond, Osric Navti, et al.
European Journal of Medical Genetics|April 3, 2020
Mosaicism in ASXL3-related syndrome: Description of five patients from three familiesSchaida Schirwani, Natalie Hauser, Anna Platt, et al.
Frontiers in Immunology|November 29, 2023
Profound and selective lymphopaenia in primary lymphatic anomaly patients demonstrates the significance of lymphatic-lymphocyte interactionsJulian Pearce, Linda Hadcocks, Sahar Mansour, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 30, 2018
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy managementNatalie Chandler, Sunayna Best, Jane Hayward, et al.
Lymphatic Research and Biology|November 14, 2019
Lymphoscintigraphic Abnormalities Associated with Milroy Disease and Lymphedema-Distichiasis SyndromeMuberra Sarica, Kristiana Gordon, Malou van Zanten, et al.
European Journal of Human Genetics : EJHG|January 6, 2011
An atypical case of hypomethylation at multiple imprinted lociEmma L Baple, Rebecca L Poole, Sahar Mansour, et al.
Frontiers in Genetics|October 14, 2022
Case Report: Progressive central conducting lymphatic abnormalities in the RASopathies. Two case reports, including successful treatment by MEK inhibitionKristiana Gordon, Matthew Moore, Malou Van Zanten, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23Helen L Hanson, Meredith J Wilson, John P Short, et al.
The Journal of Urology|March 23, 2013
Is solitary kidney really more resistant to ischemia? An experimental canine studyYasser Osman, Sahar M Hamed, Fatma E Moustafa, et al.
Human Genetics|November 14, 2009
Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasiaFiona Connell, Kamini Kalidas, Pia Ostergaard, et al.
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