A Novel LEMD3 Mutation Common to Patients with Osteopoikilosis With and Without Melorheostosis
暂无分享,去创建一个
M. Brown | B. P. Wordsworth | C. Peach | A. Couto | B. Wordsworth | J. Bruges-Armas | Yun Zhang | K. Chapman | Matthew A. Brown
[1] D. Wenkert,et al. Deactivating Germline Mutations in LEMD3 Cause Osteopoikilosis and Buschke‐Ollendorff Syndrome, but Not Sporadic Melorheostosis , 2006, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[2] D. Middleton,et al. HLA genes in Madeira Island (Portugal) inferred from sequence-based typing: footprints from different origins. , 2006, Molecular immunology.
[3] G. Mortier,et al. Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis , 2006, Human mutation.
[4] D. Middleton,et al. HLA class I and II polymorphisms in Azores show different settlements in Oriental and Central islands. , 2005, Tissue antigens.
[5] Hiroyuki Suzuki,et al. Buschke–Ollendorff Syndrome: Three Generations in a Japanese Family , 2005, Pediatric dermatology.
[6] Wei Wu,et al. MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling. , 2005, Human molecular genetics.
[7] Philippe Debeer,et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis , 2004, Nature Genetics.
[8] R. Happle. Melorheostosis may originate as a type 2 segmental manifestation of osteopoikilosis , 2004, American journal of medical genetics. Part A.
[9] T. Ehrig,et al. Buschke-Ollendorff syndrome: report of a case and interpretation of the clinical phenotype as a type 2 segmental manifestation of an autosomal dominant skin disease. , 2003, Journal of the American Academy of Dermatology.
[10] R. Montiel,et al. Genetic Structure and Origin of Peopling in The Azores Islands (Portugal): The View from mtDNA , 2003, Annals of human genetics.
[11] K. Devriendt,et al. Melorheostosis in a family with autosomal dominant osteopoikilosis: Report of a third family , 2003, American journal of medical genetics. Part A.
[12] Raju Sharma,et al. Mixed sclerosing bone dysplasia--a case report with literature review. , 2003, Clinical imaging.
[13] M. Paulin-Levasseur,et al. MAN1, an Inner Nuclear Membrane Protein That Shares the LEM Domain with Lamina-associated Polypeptide 2 and Emerin* , 2000, The Journal of Biological Chemistry.
[14] N. Nevin,et al. Melorheostosis in a family with autosomal dominant osteopoikilosis. , 1999, American journal of medical genetics.
[15] N J Cox,et al. Allele-sharing models: LOD scores and accurate linkage tests. , 1997, American journal of human genetics.
[16] W. Cooney,et al. Melorheostosis in a patient with familial osteopoikilosis. , 1997, American journal of medical genetics.
[17] L Kruglyak,et al. Parametric and nonparametric linkage analysis: a unified multipoint approach. , 1996, American journal of human genetics.
[18] T. Shinozaki,et al. Symmetry of bone lesions in osteopoikilosis. Report of 4 cases. , 1991, Acta orthopaedica Scandinavica.
[19] R. Lagier,et al. Osteopoikilosis: A radiological and pathological study , 2004, Skeletal Radiology.
[20] J. Freyschmidt. Melorheostosis: a review of 23 cases , 2001, European Radiology.