Prof.Dr. YASEMİN ALANAY

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

Machado Rosa RF, Unger SL, Renella R, Bonafé L, Spranger J, Unger S, Zabel B, Superti-Furga A. Nat Genet 43(2):132-7 (2011) Lausch E, Janecke A, Bros M, Trojandt S, Alanay Y, De Laet C, Hübner CA, Meinecke P, Nishimura G, Matsuo M, Hirano Y, Tenoutasse S, Kiss A,

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. Allali S, Le Goff C, Pressac-Diebold I ,Pfennig G, Mahaut C, Dagoneau N,Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Geneviève D,Hennekam RC, Hurst J, Krakow D,

Munnich A, Cormier-Daire V. J Med Genet Mar 17. [Epub ahead of print] (2011) Le Merrer M, Lichtenbelt KD, Lynch SA, Lyonnet S,Macdermot K, Mansour S, Megarbané A, Santos HG, Splitt M, Superti-Furga A, Unger S, Williams D,

Mutations in the gene encoding the RER proteinFKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 86(4):551-9 (2010).

Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D. Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A,