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Journal Abstract Search

121 related items for PubMed ID: 38441203

  • 1. 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
    [No Abstract] [Full Text] [Related]

  • 2. [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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  • 5. 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 10; 170(10):2694-7. PubMed ID: 27345729
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  • 7. Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
    Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, Salehi F, Haagmans MA, Mook OR, Majoie CB, Mannens MM, Hennekam RC.
    Hum Genet; 2014 Sep 10; 133(9):1161-7. PubMed ID: 24913602
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  • 8. 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. Exploration of Potential Immunodeficiency Unveils Hennekam Lymphangiectasia-Lymphedema Syndrome.
    Kaut S, Bucciol G, Moens L, Meyts I.
    J Clin Immunol; 2021 Oct 08; 41(7):1674-1676. PubMed ID: 34176065
    [No Abstract] [Full Text] [Related]

  • 11. 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 08; 176(12):2858-2861. PubMed ID: 30450763
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  • 12. 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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  • 13. [Hennekam syndrome: a case report and review of literature].
    Zhang N, Shen WB, Cai HC, Yan XM, Liu SL, Wu D, Sun G, Qian JM, Dun ZN, Zhao YQ.
    Zhonghua Nei Ke Za Zhi; 2013 Mar 02; 52(3):192-6. PubMed ID: 23856108
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  • 15. 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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  • 16. 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.
    Am J Med Genet A; 2020 Jan 01; 182(1):189-194. PubMed ID: 31633297
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  • 17. 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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  • 19. Intestinal lymphangiectasia-A novel finding in Van Maldergem syndrome challenging the role of lymphedema for the distinction from Hennekam syndrome.
    de Meij TGJ, Zwijnenburg PJG, Broers CJM, Bökenkamp A.
    Am J Med Genet A; 2019 Jul 17; 179(7):1398-1399. PubMed ID: 31063239
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