Prof. Dr. Yasemin Alanay
Pediatric Genetic Diseases
Prof. Dr. Yasemin Alanay
Quick answer
Prof. Dr. Yasemin Alanay is a Pediatric Genetic Diseases specialist at Acibadem Maslak Hospital in İstanbul with more than 30 years of experience. She focuses on skeletal dysplasias, pediatric genetic disorders, congenital hereditary conditions in children, osteogenesis imperfecta, osteochondrodysplasias, craniofacial anomalies, and related rare conditions, and provides clinical genetic evaluation and pediatric genetic counseling. She consults in Turkish and English and offers online video consultation.
Prof. Yasemin Alanay is a pediatric geneticist with a strong clinical and academic background. She graduated from Hacettepe University Faculty of Medicine and completed specialized training in Pediatric Genetic Diseases in 2011. Since 2011 she has been affiliated with Acıbadem Health Group, where she combines patient care, diagnostic genetics, and multidisciplinary collaboration to manage congenital and hereditary conditions in children. Her work focuses on skeletal dysplasias and a broad range of genetic disorders in pediatrics, emphasizing accurate diagnosis, family counseling, and tailored management plans. She is active in the professional community and holds memberships in the International Skeletal Dysplasia Society, European Society of Human Genetics, American Society of Human Genetics (ASHG), Turkish Pediatric Association, National Pediatric Association, and the Turkish Medical Association. Known for a thoughtful, evidence-based approach and clear communication with families and colleagues, Prof. Alanay contributes to improving outcomes for children with genetic conditions through clinical excellence and ongoing engagement with international research and professional networks.
Areas of Expertise
Conditions treated and procedures performed by this specialist.
Education
- 2011 Hacettepe University Faculty of Medicine Pediatric Genetic Diseases
- 2008 Hacettepe University Faculty of Medicine / Associate Professor
- 2002 Hacettepe University Faculty of Medicine Pediatrics
- 1996 Hacettepe University Faculty of Medicine
Experience
- 2011 Acibadem Health Group
- 2008 – 2011 Hacettepe University Faculty of Medicine, Pediatrics, Pediatric Genetics Unit, Associate Professor
- 2004 – 2009 Hacettepe University Institute of Health Sciences, Department of Pediatric Basic Sciences, PhD Program in Genetics
- 2007 – 2008 Hacettepe University Faculty of Medicine, Pediatrics, Pediatric Genetics Unit, Assistant Professor
- 2002 – 2007 Hacettepe University Faculty of Medicine, Department of Pediatrics, Pediatric Genetics Unit
- 2005 – 2006 Cedars-Sinai Medical Center-UCLA Intercampus Program, Research Fellowship in Skeletal Dysplasias
- 1997 – 2002 Department of Pediatrics, Hacettepe University Faculty of Medicine, Residency
- 1996 – 1997 Marmara University Faculty of Medicine, Department of Pediatrics, Residency
Professional Memberships
- International Skeletal Dysplasia Society
- European Society of Human Genetics
- National Pediatric Association
- Turkish Medical Association
- American Society of Human Genetics (ASHG)
- Turkish Pediatric Association
Selected 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, Kayikcioglu 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, Kayikcioglu 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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