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Quoted phrase not found in phrase index: "Hennekam lymphangiectasia-lymphedema syndrome 2"
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In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function.
Shinwari K, Wu Y, Rehman HM, Xiao N, Bolkov M, Tuzankina I, Chereshnev V. Shinwari K, et al. BMC Bioinformatics. 2023 Jun 15;24(1):251. doi: 10.1186/s12859-023-05361-6. BMC Bioinformatics. 2023. PMID: 37322437 Free PMC article.
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 (HKLLS3) is a rare genetical disorder caused by mutations in a few genes including ADAMTS3. ...With prediction tools and molecular dynamics simulation, some SNPs were found to significantly destabi …
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 (HKLLS3) is a rare genetical disorder caused by mutations in a f …
CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.
Shah S, Conlin LK, Gomez L, Aagenaes Ø, Eiklid K, Knisely AS, Mennuti MT, Matthews RP, Spinner NB, Bull LN. Shah S, et al. PLoS One. 2013 Sep 26;8(9):e75770. doi: 10.1371/journal.pone.0075770. eCollection 2013. PLoS One. 2013. PMID: 24086631 Free PMC article.
BACKGROUND: Lymphedema-cholestasis syndrome (LCS; Aagenaes syndrome) is a rare autosomal recessive disorder, characterized by 1) neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and 2) severe chronic lymphedema, mainly lower limb. LCS …
BACKGROUND: Lymphedema-cholestasis syndrome (LCS; Aagenaes syndrome) is a rare autosomal recessive disorder, characterized by 1) neonatal in …
Indocyanine green lymphography and lymphaticovenous anastomosis for generalized lymphatic dysplasia with pleural effusion and ascites in neonates.
Mihara M, Hara H, Shibasaki J, Seki Y, Hayashi A, Iida T, Adachi S, Uchida Y, Kaneko H, Haragi M, Murakami A. Mihara M, et al. Ann Vasc Surg. 2015 Aug;29(6):1111-22. doi: 10.1016/j.avsg.2015.02.013. Epub 2015 May 27. Ann Vasc Surg. 2015. PMID: 26025477
RESULTS: In all cases, ICG lymphography showed varying degrees of dermal backflow in the limbs with lymphostasis. After LVA surgery, effusion stopped in 2 cases and decreased in 1 case. In the cases where effusion stopped, backflow as observed with ICG lymphography …
RESULTS: In all cases, ICG lymphography showed varying degrees of dermal backflow in the limbs with lymphostasis. After LVA surgery, effusio …