A Novel LEMD3 Mutation Common to Patients with Osteopoikilosis With and Without Melorheostosis

[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.