Lymphangioleiomyomatosis - HLBS-PopOmics -

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Lymphangioleiomyomatosis

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Last Posted: Mar 02, 2018

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• Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis.  
  Suspitsin Evgeny N, et al. Journal of human genetics 2018 2
• Testing for Hereditary Predisposition in Patients with Gynecologic Cancers, Quo Vadis?  
  Mitchell Gillian et al. Surgical pathology clinics 2016 Jun 9(2) 301-6
• TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.  
  Kingswood John C et al. Orphanet journal of rare diseases 2017 Jan 12(1) 2
• Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.  
  Giannikou Krinio, et al. PLoS genetics 2016 8 (8) e1006242
• Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis.  
  Di Marco Fabiano, et al. PloS one 2016 0 (5) e0155331
• Chemokine-enhanced chemotaxis of lymphangioleiomyomatosis cells with mutations in the tumor suppressor TSC2 gene.  
  Pacheco-Rodriguez Gustavo, et al. Journal of immunology (Baltimore, Md. : 1950) 2009 2 (3) 1270-7