Prof. M.D. YASEMİN ALANAY

Education

• 2011 Hacettepe University Faculty of Medicine Çocuk Genetik Hastalıkları
• 2008 Hacettepe University Faculty of Medicine / Associate Professor
• 2002 Hacettepe University Faculty of Medicine Çocuk Sağlığı ve Hastalıkları
• 1996 Hacettepe University Faculty of Medicine

Experience

• 2011 Acıbadem Healthcare Services
• 2008 - 2011 Hacettepe University Faculty of Medicine , Çocuk Sağlığı ve Hastalıkları, Çocuk Genetik Ünitesi, Associate Professor
• 2004 - 2009 Hacettepe University Health Sciences Institute, Pediatrik Temel Bilimler Bilim Dalı, Genetik Doktora Programı
• 2007 - 2008 Hacettepe University Faculty of Medicine , Çocuk Sağlığı ve Hastalıkları, Çocuk Genetik Ünitesi, Yardımcı Associate Professor
• 2002 - 2007 Hacettepe University Faculty of Medicine Çocuk Sağlığı ve Hastalıkları Department, Çocuk Genetik Ünitesi
• 2005 - 2006 Cedars-Sinai Medical Center-UCLA Intercampus Program, Research Fellowship in Skeletal Dysplasias
• 1997 - 2002 Hacettepe University Faculty of Medicine Çocuk Sağlığı ve Hastalıkları Department, Uzmanlık Eğitimi
• 1996 - 1997 Marmara University Faculty of Medicine Çocuk Sağlığı ve Hastalıkları Department, Uzmanlık Eğitimi

Memberships

• International Skeletal Dysplasia Society
• European Society of Human Genetics
• Milli Pediatri Association
• Türk Tabipleri Birliği
• American Society of Human Genetics (ASHG)
• Türk Pediatri Kurumu

PUBLICATIONS

• 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,
• Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene. Eur J Pediatr 169(3):363-7 (2010) Gok F, Crettol LM, Alanay Y, Hacıhamdioglu B, Kocaoglu M, Bonafe L, Ozen S.
• Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. Alikasifoglu M, Wollnik B, Akarsu NA. Am J Hum Genet 86(5):789-96 (2010) Uz E, Alanay Y, Aktas D, Vargel I, Gucer S, Tuncbilek G, von Eggeling F, Yilmaz E,Deren O, Posorski N, Ozdag H, Liehr T, Balci S,
• Hemihyperplasia-multiple lipomatosis syndrome: an underdiagnosed entity in children with asymmetric overgrowth J Pediatr Surg 45(1):E19-23 (2010) Boybeyi O, Alanay Y, Kayikçioğlu A, Karnak I.
• Intracranial and extracranial malformations in patients with craniofacial anomalies. J Craniofac Surg 21(5):1460-4 (2010) Tunçbilek G, Alanay Y, Uzun H, Kayikçioğlu A, Akarsu NA, Benli K.
• Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia. Am J Hum Genet 85(6):916-22 (2009) Hellemans J, Simon M, Dheedene A, Alanay Y, Mihci E, Rifai L, Sefiani A, Van Bever Y, Meradji M, Superti-Furga A, Mortier G
• Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A 1;146:1917-1924 (2008) Krakow D, Alanay Y, Rimoin LP, Lin V, Wilcox WR, Lachman RS, Rimoin DL.
• The skeletal dysplasias: clinical-molecular correlations. Ann N Y Acad Sci, 1117:302-309 (2007) Rimoin DL, Cohn D, Krakow D, Wilcox W, Lachman RS, Alanay Y.

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