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Journal Abstract Search

148 related items for PubMed ID: 31633297

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  • 2. 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.
    Am J Med Genet A; 2018 Dec; 176(12):2858-2861. PubMed ID: 30450763
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  • 3. Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.
    Brouillard P, Dupont L, Helaers R, Coulie R, Tiller GE, Peeden J, Colige A, Vikkula M.
    Hum Mol Genet; 2017 Nov 01; 26(21):4095-4104. PubMed ID: 28985353
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  • 6. A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression.
    Jackson CC, Best L, Lorenzo L, Casanova JL, Wacker J, Bertz S, Agaimy A, Harrer T.
    J Clin Immunol; 2016 Jan 01; 36(1):19-27. PubMed ID: 26686525
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  • 8. Expansion of the phenotype in Hennekam syndrome: a case with new manifestations.
    Angle B, Hersh JH.
    Am J Med Genet; 1997 Aug 08; 71(2):211-4. PubMed ID: 9217224
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  • 11. 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.
    ScientificWorldJournal; 2021 Aug 08; 2021():6642626. PubMed ID: 34234628
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  • 17. Intestinal lymphangiectasia in a 3-month-old girl: A case report of Hennekam syndrome caused by CCBE1 mutation.
    Fattorusso A, Pieri ES, Dell'Isola GB, Prontera P, Mencaroni E, Stangoni G, Esposito S.
    Medicine (Baltimore); 2020 Jul 02; 99(27):e20995. PubMed ID: 32629717
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  • 19. Octreotide in Hennekam syndrome-associated intestinal lymphangiectasia.
    Al Sinani S, Rawahi YA, Abdoon H.
    World J Gastroenterol; 2012 Nov 21; 18(43):6333-7. PubMed ID: 23180957
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