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Journal Abstract Search

124 related items for PubMed ID: 11857750

  • 21. Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding.
    Marcelino J, Sciortino CM, Romero MF, Ulatowski LM, Ballock RT, Economides AN, Eimon PM, Harland RM, Warman ML.
    Proc Natl Acad Sci U S A; 2001 Sep 25; 98(20):11353-8. PubMed ID: 11562478
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  • 22. Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism.
    Yuan ZZ, Yu F, Jin JY, Jiao ZJ, Tang JY, Xiang R.
    Biosci Rep; 2020 Jun 26; 40(6):. PubMed ID: 32478388
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  • 25. A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.
    Ma X, Li FF, Wang SZ, Gao C, Zhang M, Zhu SQ.
    Mol Vis; 2008 Jun 26; 14():1906-11. PubMed ID: 18958306
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  • 29. Novel mutations in the GALK1 gene in patients with galactokinase deficiency.
    Hunter M, Angelicheva D, Levy HL, Pueschel SM, Kalaydjieva L.
    Hum Mutat; 2001 Jun 26; 17(1):77-8. PubMed ID: 11139256
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  • 35. Identification of two novel mutations of IRF6 in Korean families affected with Van der Woude syndrome.
    Kim Y, Park JY, Lee TJ, Yoo HW.
    Int J Mol Med; 2003 Oct 26; 12(4):465-8. PubMed ID: 12964020
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  • 37. [Symphalangism].
    Okuyama T.
    Ryoikibetsu Shokogun Shirizu; 2001 Oct 26; (34 Pt 2):703-4. PubMed ID: 11528976
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  • 38. Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.
    Laradi S, Tukel T, Khediri S, Shabbeer J, Erazo M, Chkioua L, Chaabouni M, Ferchichi S, Miled A, Desnick RJ.
    Mol Genet Metab; 2006 Mar 26; 87(3):213-8. PubMed ID: 16378744
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  • 39. Identification of a Novel NOG Missense Mutation in a Chinese Family With Symphalangism and Tarsal Coalitions.
    Xiong J, Tu W, Yan Y, Xiao K, Yao Y, Li S, Yang L, Zhou M, Liu Y, Hu J, Zhu F.
    Front Genet; 2019 Mar 26; 10():353. PubMed ID: 31105738
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  • 40. T>C transition in codon 72 (TCG-->CCG), S72P, a putative hotspot in PMP22.
    Ekici AB, Park O, Korinthenberg R, Grehl H, Rautenstrauss B.
    Hum Mutat; 2001 Mar 26; 17(1):81. PubMed ID: 11139264
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