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Journal Abstract Search
134 related items for PubMed ID: 10894430
21. Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait. Houdayer C, Soupre V, Rosenberg-Bourgin M, Martinez H, Tredano M, Feldmann D, Feingold J, Aymard P, Munnich A, Le Bouc Y, Vazquez MP, Bahuau M. Ann Genet; 1999; 42(2):69-74. PubMed ID: 10434119 [Abstract] [Full Text] [Related]
26. Confirmation of linkage of Van der Woude syndrome to chromosome 1q32: evidence of association with STR alleles suggests possible unique origin of the disease mutation. Beiraghi S, Miller-Chisholm A, Kimberling WJ, Sun CE, Wang YF, Russell LJ, Khoshnevisan M, Storm AL, Long RE, Witt PD, Mazaheri M, Diehl SR. J Craniofac Genet Dev Biol; 1999; 19(3):128-34. PubMed ID: 10589394 [Abstract] [Full Text] [Related]
27. Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome. Peyrard-Janvid M, Pegelow M, Koillinen H, Larsson C, Fransson I, Rautio J, Hukki J, Larson O, Karsten AL, Kere J. Eur J Hum Genet; 2005 Dec; 13(12):1261-7. PubMed ID: 16160700 [Abstract] [Full Text] [Related]
28. De novo interstitial deletion of 1q32.2-q32.3 including the entire IRF6 gene in a patient with oral cleft and other dysmorphic features. Salahshourifar I, Halim AS, Sulaiman WA, Ariffin R, Naili Muhamad Nor N, Zilfalil BA. Cytogenet Genome Res; 2011 Dec; 134(2):83-7. PubMed ID: 21447942 [Abstract] [Full Text] [Related]
29. Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41. Makita Y, Yamada K, Miyamoto A, Okuno A, Niikawa N. Am J Med Genet; 1999 Sep 17; 86(3):285-8. PubMed ID: 10482882 [Abstract] [Full Text] [Related]
31. Report of two cases with Van der Woude syndrome: a child and her mother. Koçer U, Aksoy HM, Tiftikcioğlu YO, Cöloğlu H, Karaaslan O. Genet Couns; 2001 Sep 17; 12(4):341-6. PubMed ID: 11837602 [Abstract] [Full Text] [Related]
33. Variable expression of the popliteal pterygium syndrome in two 3-generation families. Soekarman D, Cobben JM, Vogels A, Spauwen PH, Fryns JP. Clin Genet; 1995 Apr 17; 47(4):169-74. PubMed ID: 7628117 [Abstract] [Full Text] [Related]
34. Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene. Ghassibé M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M. J Med Genet; 2004 Feb 17; 41(2):e15. PubMed ID: 14757865 [No Abstract] [Full Text] [Related]
35. [Popliteal pterygium syndrome. A exceptional case]. Brun MF, Delcampe P, Retout A, Bachy B, Peron JM. Rev Stomatol Chir Maxillofac; 1994 Feb 17; 95(5):343-7. PubMed ID: 7984954 [Abstract] [Full Text] [Related]
36. A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis. Matsuzawa N, Shimozato K, Natsume N, Niikawa N, Yoshiura K. J Dent Res; 2006 Dec 17; 85(12):1143-6. PubMed ID: 17122170 [Abstract] [Full Text] [Related]
38. A case of facio-genito-popliteal syndrome. Hamamoto J, Matsumoto T. Ann Plast Surg; 1984 Sep 17; 13(3):224-9. PubMed ID: 6093671 [Abstract] [Full Text] [Related]