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Journal Abstract Search

130 related items for PubMed ID: 27345729

  • 1. Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.
    Crawford J, Bower NI, Hogan BM, Taft RJ, Gabbett MT, McGaughran J, Simons C.
    Am J Med Genet A; 2016 Oct; 170(10):2694-7. PubMed ID: 27345729
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  • 2. 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; 36(1):19-27. PubMed ID: 26686525
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  • 6. 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 Jan; 2021():6642626. PubMed ID: 34234628
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  • 7. Functional Dissection of the CCBE1 Protein: A Crucial Requirement for the Collagen Repeat Domain.
    Roukens MG, Peterson-Maduro J, Padberg Y, Jeltsch M, Leppänen VM, Bos FL, Alitalo K, Schulte-Merker S, Schulte D.
    Circ Res; 2015 May 08; 116(10):1660-9. PubMed ID: 25814692
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  • 10. 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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  • 11. 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.
    PLoS One; 2013 Nov 01; 8(9):e75770. PubMed ID: 24086631
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  • 12. Exploration of Potential Immunodeficiency Unveils Hennekam Lymphangiectasia-Lymphedema Syndrome.
    Kaut S, Bucciol G, Moens L, Meyts I.
    J Clin Immunol; 2021 Oct 01; 41(7):1674-1676. PubMed ID: 34176065
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  • 13. [Variant analysis of CCBE1 gene in a case of Hennekam lymphangiectasia-lymphedema syndrome type 1].
    Ren Y, Liu Y, Lyu Y, Gao M, Wang D, Wan Y, Ma J, Shen N, Gai Z.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jun 10; 37(6):669-672. PubMed ID: 32472549
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  • 15. Hennekam Syndrome due to a Novel Homozygous CCBE1 Mutation Presenting as Pediatric-Onset Common Variable Immune Deficiency.
    Tessarin G, Baronio M, Gazzurelli L, Rossi S, Chiarini M, Moratto D, Badolato R, Lougaris V.
    J Investig Allergol Clin Immunol; 2023 Dec 14; 33(6):488-490. PubMed ID: 36748365
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  • 16. Hennekam syndrome: a rare cause of primary lymphedema.
    Elmansour I, Chiheb S, Benchikhi H.
    Dermatol Online J; 2014 Aug 17; 20(8):. PubMed ID: 25148287
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  • 18. A case report of Hennekam syndrome with a mutation in the CCBE1 gene.
    Durak T, Karaer D, Karaer K.
    Clin Dysmorphol; 2024 Apr 01; 33(2):87-89. PubMed ID: 38441203
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  • 20. 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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