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2012 1
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Page 1
An approach to familial lymphoedema.
Jones GE, Mansour S. Jones GE, et al. Clin Med (Lond). 2017 Dec;17(6):552-557. doi: 10.7861/clinmedicine.17-6-552. Clin Med (Lond). 2017. PMID: 29196357 Free PMC article. Review.
An additional case of Hennekam lymphangiectasia-lymphedema syndrome caused by loss-of-function mutation in ADAMTS3.
Scheuerle AE, Sweed NT, Timmons CF, Smith ED, Alcaraz WA, Shinde DN. Scheuerle AE, et al. Am J Med Genet A. 2018 Dec;176(12):2858-2861. doi: 10.1002/ajmg.a.40633. Epub 2018 Nov 18. Am J Med Genet A. 2018. PMID: 30450763
Hennekam lymphangiectasia-lymphedema syndrome (HKLLS) is a genetically heterogeneous lymphatic dysplasia with characteristic of facial dysmorphism, neurocognitive impairments, and abnormalities of the pericardium, intestinal tract, and extremities. ...
Hennekam lymphangiectasia-lymphedema syndrome (HKLLS) is a genetically heterogeneous lymphatic dysplasia with ch …
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. ...
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 (HKLLS3) is a rare genetical disorder caused by mutations in a f …
Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis.
Shinwari K, Guojun L, Deryabina SS, Bolkov MA, Tuzankina IA, Chereshnev VA. Shinwari K, et al. ScientificWorldJournal. 2021 Jun 10;2021:6642626. doi: 10.1155/2021/6642626. eCollection 2021. ScientificWorldJournal. 2021. PMID: 34234628 Free PMC article.
Hennekam lymphangiectasia-lymphedema syndrome has been linked to single-nucleotide polymorphisms in the CCBE1 (collagen and calcium-binding EGF domains 1) gene. ...
Hennekam lymphangiectasia-lymphedema syndrome has been linked to single-nucleotide polymorphisms in the CCBE1 (c …
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.
Boone PM, Paterson S, Mohajeri K, Zhu W, Genetti CA, Tai DJC, Nori N, Agrawal PB, Bacino CA, Bi W, Talkowski ME, Hogan BM, Rodan LH. Boone PM, et al. Am J Med Genet A. 2020 Jan;182(1):189-194. doi: 10.1002/ajmg.a.61392. Epub 2019 Oct 21. Am J Med Genet A. 2020. PMID: 31633297 Free PMC article.
Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by congenital lymphedema, intestinal lymphangiectasia, facial dysmorphism, and variable intellectual disability. ...
Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by congenital lym …
17 results