Research & Literature
Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.
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Boston Children's Hospital
Boston, United States
Cincinnati Children's Hospital Medical Center
Cincinnati, United States
Children's Hospital of Philadelphia
Philadelphia, United States
Broad Institute
Cambridge, United States
Harvard University
Cambridge, United States
National Institutes of Health
Bethesda, United States
Hospital Universitario La Paz
Madrid, Spain
Wellcome Sanger Institute
Cambridge, United Kingdom
BGI Group (China)
Shenzhen, China
Yale University
New Haven, United States
References
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Contemporary Management of Vascular Anomalies of the Head and Neck-Part 1: Vascular Malformations: A Review.
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Characterization and Childhood Tumor Risk Assessment of Genetic and Epigenetic Syndromes Associated With Lateralized Overgrowth.
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Management of lymphatic vascular malformations: A systematic review of the literature.
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Efficacy of Initial Sirolimus Therapy for 27 Patients with Intractable Lymphatic Malformations.
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Lymphatic malformations: a 20-year single institution experience.
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Development and Preliminary Validation of the Patient-Reported Outcome Measure for Vascular Malformation Questionnaire: A Prospective Cohort Study.
England RW, Motaghi M, Kohler B, et al.
Journal of vascular and interventional radiology : JVIR 2021; (32(5)):683-690.e4 doi:10.1016/j.jvir.2021.01.263.
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A novel machine learning approach (svmSomatic) to distinguish somatic and germline mutations using next-generation sequencing data.
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Bleomycin for Percutaneous Sclerotherapy of Venous and Lymphatic Malformations: A Retrospective Study of Safety, Efficacy and Mid-Term Outcomes in 26 Patients.
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Journal of clinical medicine 2021; (10(6)) doi:10.3390/jcm10061302.
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How we approach the diagnosis and management of complex lymphatic anomalies.
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Pediatric blood & cancer 2022; (69 Suppl 3()):e28985 doi:10.1002/pbc.28985.
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Contribution of magnetic resonance imaging to the prenatal diagnosis of common congenital vascular anomalies.
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Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.
Brouillard P, Schlögel MJ, Homayun Sepehr N, et al.
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Journal of clinical medicine 2021; (10(13)) doi:10.3390/jcm10132950.
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Results of Injection Sclerotherapy with Bleomycin in Pediatric Lymphatic Malformations.
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Vascular anomalies: clinical perspectives.
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Pediatric radiology 2022; (52(2)):249-261 doi:10.1007/s00247-021-05260-z.
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Modeling Somatic Mutations Associated With Neurodevelopmental Disorders in Human Brain Organoids.
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Alpelisib to treat CLOVES syndrome, a member of the PIK3CA-related overgrowth syndrome spectrum.
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Sclerosing agents in the management of lymphatic malformations in children: A systematic review.
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Complex lymphatic malformations in pediatrics: a review of treatment options.
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Efficacy of sirolimus in children with lymphatic malformations of the head and neck.
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Splenic cystic lymphangioma in adults: A rare case report from Syria.
Hussein Al-Janabi M, Abodest R, Adnan Alshabab M, et al.
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The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations.
Ghaffarpour N, Baselga E, Boon LM, et al.
European journal of medical genetics 2022; (65(12)):104637 doi:10.1016/j.ejmg.2022.104637.
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De novo mutations, genetic mosaicism and human disease.
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Frontiers in genetics 2022; (13()):983668 doi:10.3389/fgene.2022.983668.
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Vascular Malformations: A Histopathologic and Conceptual Appraisal.
Fernandez-Flores A, Cassarino D, Colmenero I
Actas dermo-sifiliograficas 2023; (114(3)):213-228 doi:10.1016/j.ad.2022.10.035.
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Percutaneous sclerotherapy for head and neck lymphatic malformations in neonates and infants ≤12 months of age.
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Journal of neurointerventional surgery 2023; (15(12)):1242-1246 doi:10.1136/jnis-2022-019516.
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Sudden Appearance of a Palpable Chest Wall Mass Secondary to Macrocystic Lymphatic Malformation: A Case Report.
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Children (Basel, Switzerland) 2023; (10(2)) doi:10.3390/children10020235.
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A case of high-risk neuroblastoma in a child with CLOVES syndrome.
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Pediatric blood & cancer 2023; e30393 doi:10.1002/pbc.30393.
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Magnitude and relevance of change in health-related quality of life in patients with vascular malformations treated with sirolimus.
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[Lymphangioma of the scrotum].
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Rapid lymphatic malformation expansion: Imaging, association with asymptomatic Streptococcus infection, multidisciplinary management, and therapeutic approach.
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Patient characteristics and disease spectrum in a German vascular anomalies center.
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Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations.
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JCI insight 2023; (8(21)).
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Anticancer effects of alpelisib on PIK3CA-mutated canine mammary tumor cell lines.
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Frontiers in veterinary science 2023; (10()):1279535 doi:10.3389/fvets.2023.1279535.
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Double somatic mosaicism in Cornelia de Lange syndrome.
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American journal of medical genetics. Part A 2024; (194(5)):e63512 doi:10.1002/ajmg.a.63512.
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Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants.
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Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine.
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Anesthetic Management of a Massive Cystic Hygroma of the Neck in a Neonate.
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