Pediatric Genetic Diseases · Acibadem Maslak Hospital, İstanbul Prof. Dr. Yasemin Alanay
✓ Medically verified profileProf. Dr. Yasemin Alanay
Prof. Dr. Yasemin Alanay is a specialist in Pediatric Genetic Diseases at Acibadem Maslak Hospital in İstanbul. Her practice covers rare diseases, achondroplasia, osteogenesis imperfecta, Ehlers-Danlos syndrome, Down syndrome, Hirschsprung disease, Harlequin fetus syndrome and Carney complex, along with DNA testing, fetal DNA testing and the quadruple screening test. She consults in Turkish and English.
Accepting international patientsAbout Prof. Dr. Yasemin Alanay
Prof. Dr. Yasemin Alanay is a specialist in Pediatric Genetic Diseases at Acibadem Maslak Hospital in İstanbul, where she provides care within the Pediatric Genetic Diseases Unit. She has more than 30 years in medicine. Dr. Alanay graduated from Hacettepe University Faculty of Medicine in 1996 and completed her specialty training in pediatrics at Marmara University Faculty of Medicine Pediatrics Department (1996–1997) and Hacettepe University Faculty of Medicine Pediatrics Department (1997–2002). She received the Medical Specialization Board qualification in Pediatric Genetic Diseases in 2011.
From 2002 to 2007 she worked in the Pediatric Genetics Unit of the Hacettepe University Faculty of Medicine Pediatrics Department, and between 2004 and 2009 she followed the Genetics Doctoral Program at Hacettepe University Health Sciences Institute, Department of Basic Pediatric Sciences. In 2005–2006 she completed a Research Fellowship in Skeletal Dysplasias at the Cedars-Sinai Medical Center-UCLA Intercampus Program. She then served in the Pediatric Genetics Unit at Hacettepe University Faculty of Medicine as Assistant Associate Professor (2007–2008) and Associate Professor (2008–2011), before joining Acıbadem Healthcare Services in 2011. Dr. Alanay is a member of the International Skeletal Dysplasia Society, the European Society of Human Genetics, the American Society of Human Genetics (ASHG), the Milli Pediatri Association, the Turkish Medical Association and Türk Pediatri Kurumu. She has co-authored publications in journals including Nature Genetics, American Journal of Human Genetics and Journal of Medical Genetics on topics such as skeletal dysplasias, autosomal-recessive osteogenesis imperfecta, frontonasal dysplasia and craniofacial anomalies.
Clinical focus
Dr. Alanay evaluates children with rare and inherited disorders. Her areas of expertise include skeletal dysplasias such as achondroplasia and osteogenesis imperfecta, as well as Ehlers-Danlos syndrome, Down syndrome, Hirschsprung disease, Harlequin fetus syndrome and Carney complex. Her clinical work also covers the broader group of rare diseases in which a genetic cause is suspected.
Genetic testing is a further part of her practice. This includes DNA testing, fetal DNA testing and the quadruple screening test. The choice of test, and whether testing is appropriate, depends on the individual clinical picture and family history and is discussed with the family during the evaluation.
How Dr. Alanay works with international patients
Dr. Alanay consults in Turkish and English, and interpreters can be arranged for other languages. Before a visit, the Acibadem international patient team coordinates the collection of prior reports and imaging, such as X-ray or ultrasound reports, laboratory and pathology results, previous genetic test results, operative notes and discharge summaries, and arranges appointments and the hospital visit. A first consultation typically covers the child’s history and symptoms, the family history, a review of existing imaging and previous treatments, a clinical examination and a discussion of the options, including whether further genetic testing may be helpful. Video consultation is available for international patients who wish to discuss their situation before traveling.
What Dr. Alanay treats and performs
Each item opens the condition or treatment page with the care pathway for international patients.
Conditions treated
- Rare diseases
- Hirschsprung disease
- Harlequin fetus syndrome
- Fetal DNA testing
- Ehlers-danlos syndrome
- Down syndrome
- DNA testing
- Carney complex
Procedures performed
- Quadruple screening test
- ROP treatment
Education, career and memberships
Education & training
Education
- 2011Medical Specialization Board Pediatric Genetic Diseases
- 2008Hacettepe University Faculty of Medicine / Associate Professor
- 2002Hacettepe University Faculty of Medicine Pediatrics
- 1996Hacettepe University Faculty of Medicine
Career
Professional Experience
- 2011Acıbadem Healthcare Services
- 2008–2011Hacettepe University Faculty of Medicine, Pediatrics, Pediatric Genetics Unit, Associate Professor
- 2007–2008Hacettepe University Faculty of Medicine, Pediatrics, Pediatric Genetics Unit, Assistant Associate Professor
- 2005–2006Cedars-Sinai Medical Center-UCLA Intercampus Program, Research Fellowship in Skeletal Dysplasias
- 2004–2009Hacettepe University Health Sciences Institute, Department of Basic Pediatric Sciences, Genetics Doctoral Program
- 2002–2007Hacettepe University Faculty of Medicine Pediatrics Department, Pediatric Genetics Unit
- 1997–2002Hacettepe University Faculty of Medicine Pediatrics Department, Specialty Training
- 1996–1997Marmara University Faculty of Medicine Pediatrics Department, Specialty Training
Memberships
Professional Memberships
- International Skeletal Dysplasia Society
- European Society of Human Genetics
- Milli Pediatri Association
- Turkish Medical Association
- American Society of Human Genetics (ASHG)
- Türk Pediatri Kurumu
Selected publications
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.
