ÖZGEÇMİŞ 1. Adı Soyadı: YASEMİN ALANAY (DEĞERTEKİN) 2. Doğum Tarihi: 23.05.1972 3. Unvanı: PROFESÖR DOKTOR 4. Öğrenim Durumu: Derece Alan Üniversite Yıl Tıp Fakültesi Hacettepe Üniversitesi (İNG) 1996 Çocuk Sağlığı ve Hastalıkları Uzmanlığı Hacettepe Üniversitesi 2002 Genetik Bilim Doktorası Hacettepe Ünivesitesi, Sağlık Bilimleri Enstitüsü 2009 Çocuk Genetik Hastalıkları Uzmanlığı Hacettepe Üniversitesi, Sağlık Bakanlığı Yeni Tahsis Edilen Yan Dal 2011 5. Akademik Unvanlar a. Yardımcı Doçent (12.3.2007), Hacettepe Üniversitesi Tıp Fakültesi b. Doçent (14.1.2008), Hacettepe Üniversitesi Tıp Fakültesi c. Bilim Doktoru (28.12.2009) Hacettepe Üniversitesi Tıp Fakültesi d. Profesör (2013) Acıbadem Üniversitesi 6. Yayınlar 6.1 Uluslararası hakemli dergilerde yayınlanan makaleler 6.1A Orijinal Makale ve Derlemeler 1. Perinatal Mortality Study Group: Durukan T, Önderoğlu L, Deren Ö, Saygan- Karamürsel B, Erdem G, Oran O, Yurdakök M, Tekinalp G, Yiğit Ş, Korkmaz A, Tekşam Ö, Özkutlu S, Çeliker A, Kale G, Çağlar M, Güçer Ş, Bulun A, Talim B, Büyükpamukçu A, Çiftçi A, Tunçbilek E, Balcı S, Alanay Y. Perinatal mortality rate-hospital based study during 1998-2001 at Hacettepe University, J Perinat Med; 31, 435-440 (2003). 2. Ha-Vinh R, Alanay Y, Bank RA, Campos-Xavier AB, Zankl A, Superti-Furga A, Bonafe L. Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2, Am J Med Genet A, 131, 115-120 (2004). 3. Boduroğlu K, Alanay Y, Koldan B, Tunçbilek E. Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women, Am J Med Genet, 127, 5-10 (2004). 4. Alanay Y, Balci S, Ozen S. Noonan syndrome and systemic lupus erythematosus: presentation in childhood, Clin Dysmorphol, 13, 161-163 (2004). 5. Acaroglu G, Alanay Y, Reynier P, Amati-Bonneau P, Men G. Clinical Heterogeneity of Hereditary Optic Atrophy in a Turkish Family, Neuro-ophthalmology, 29, 9-15 (2004). 6. Alanay Y, Boduroğlu K, Tunçbilek E. Celiac disease screening in Down syndrome, Turk J Pediatr, 47, 138-140 (2005). 7. Boduroglu K, Alanay Y, Alikasifoglu M, Aktas D, Tuncbilek E. Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population, Turk J Pediatr, 47, 327-332, (2005). 8. Renella R, Schaefer E, LeMerrer M, Alanay Y, Kandemir N, Eich G, Costa T, Ballhausen D, Boltshauser E, Bonafe L, Giedion A, Unger S, Superti-Furga A. Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder, Am J Med Genet,140, 541-550, (2006).
9. Tuncbilek E, Alanay Y. Congenital contractural arachnodactyly (Beals syndrome), Orphanet J Rare Dis,1, 1-20, (2006). 10. Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Hassan Karimi-Nejad M, Ae Kim C, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP. A molecular and clinical study of Larsen Syndrome caused by mutations in FLNB, J Med Genet, 44, 89-98, (2007). 11. Alanay Y, Ünal F, Turanlı G, Alikaşifoğlu M, Alehan D, Akyol U, Belgin E, Şener C, Aktaş D, Boduroğlu K, Utine E, Volkan-Salancı B, Özusta Ş, Genç A, Başar F, Sevinç Ş, Tunçbilek E. A Multidisciplinary Approach to the Management of Individuals with Fragile X Syndrome, J Intel Dis Res, 51, 151-161, (2007) 12. Alanay Y, Krakow D, Rimoin D, Lachman R. Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988-2006), Am J Med Genet, 143, 1159-1168 (2007). 13. Rimoin DL, Cohn D, Krakow D, Wilcox W, Lachman RS, Alanay Y. The skeletal dysplasias: clinical-molecular correlations.ann N Y Acad Sci, 1117:302-309 (2007). 14. Krakow D, Alanay Y, Rimoin LP, Lin V, Wilcox WR, Lachman RS, Rimoin DL. Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A 1;146:1917-1924 (2008). 15. Berker N, Alanay Y, Elgin U, Volkan-Salanci B, Simsek T, Akarsu N, Alikasifoglu M. A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum. Acta Ophthalmol 87:52-57 (2009). 16. Utine GE, Alanay Y, Atkaş D, Boduroğlu K, Alikaşifoğlu M, Tunçbilek E. Kabuki syndrome and trisomy 10p. Genet Couns 19:291-300 (2008). 17. Andiran N, Alikasifoglu A, Alanay Y, Yordam N. Cyclic pamidronate treatment in Bruck syndrome: proposal of a new modality of treatment. Pediatr Int 50:836-838 (2008). 18. Bornholdt D, Oeffner F, König A, Happle R, Alanay Y, Ascherman J, Benke PJ, Boente Mdel C, van der Burgt I, Chassaing N, Ellis I, Francisco CR, Della Giovanna P, Hamel B, Has C, Heinelt K, Janecke A, Kastrup W, Loeys B, Lohrisch I, Marcelis C, Mehraein Y, Nicolas ME, Pagliarini D, Paradisi M, Patrizi A, Piccione M, Piza-Katzer H, Prager B, Prescott K, Strien J, Utine GE, Zeller MS, Grzeschik KH. PORCN mutations in focal dermal hypoplasia: coping with lethality. Hum Mutat 30:E618-628 (2009). 19. Furuichi T, Kayserili H, Hiraoka S, Nishimura G, Ohashi H, Alanay Y, Lerena JC, Aslanger AD, Koseki H, Cohn DH, Superti-Furga A, Unger S, Ikegawa S. Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. J Med Genet 46:562-568 (2009). 20. Tunçbilek G, Alanay Y, Kayikçioğlu A. Le Fort III bipartition osteotomy to treat a rare craniofacial anomaly: frontofacionasal dysostosis. J Craniofac Surg 20:1056-1058 (2009). 21. Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA. ALX4 dysfunction disrupts craniofacial and epidermal development. Human Molecular Genetics 15;18(22):4357-66 (2009). 22. Utine GE, Celik T, Alanay Y, Alikaşifoğlu M, Boduroğlu K, Tunçbilek E, Aktaş D. Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients. Turk J Pediatr 51(3):199-206 (2009). 23. Huber C, Oulès B, Bertoli M, Chami M, Fradin M, Alanay Y, Al-Gazali LI, Ausems MG, Bitoun P, Cavalcanti DP, Krebs A, Le Merrer M, Mortier G, Shafeghati Y, Superti-Furga A, Robertson SP, Le Goff C, Muda AO, Paterlini-Bréchot P, Munnich A, Cormier-Daire V. Identification of CANT1 mutations in Desbuquois dysplasia. Am J Hum Genet. 85(5):706-10 (2009). 24. Hellemans J, Simon M, Dheedene A, Alanay Y, Mihci E, Rifai L, Sefiani A, van Bever Y, Meradji M, Superti-Furga A, Mortier G. Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia. Am J Hum Genet 85(6):916-22 (2009). 25. Huber C, Fradin M, Edouard T, Le Merrer M, Alanay Y, Da Silva DB, David A, Hamamy H, van Hest L, Lund AM, Michaud J, Oley C, Patel C, Rajab A, Skidmore DL, Stewart H, Tauber M, Munnich A, Cormier-Daire V. OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels. Hum Mutat 31(1):20-6 (2010). 26. Boybeyi O, Alanay Y, Kayikçioğlu A, Karnak I. Hemihyperplasia-multiple lipomatosis syndrome: an underdiagnosed entity in children with asymmetric overgrowth. J Pediatr Surg 45(1):E19-23 (2010). 27. Iqbal Z, Cejudo-Martin P, de Brouwer A, van der Zwaag B, Ruiz-Lozano P, Scimia MC, Lindsey JD, Weinreb R, Albrecht B, Megarbane A, Alanay Y, Ben-Neriah Z, Amenduni M, Artuso R, Veltman JA, van Beusekom E, Oudakker A, Millán JL, Hennekam R, Hamel B, Courtneidge SA, van Bokhoven H. Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome. Am J Hum Genet 86(2):254-61 (2010).
28. Kim OH, Nishimura G, Song HR, Matsui Y, Sakazume S, Yamada M, Narumi Y, Alanay Y, Unger S, Cho TJ, Park SS, Ikegawa S, Meinecke P, Superti-Furga A. A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases. Am J Med Genet A Apr;152A(4):875-85 (2010). 29. 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, 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. Mutations in the gene encoding the RER proteinfkbp65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 86(4):551-9 (2010). 30. 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, Alikasifoglu M, Wollnik B, Akarsu NA. Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. Am J Hum Genet 86(5):789-96 (2010). 31. Tunçbilek G, Alanay Y, Uzun H, Kayikçioğlu A, Akarsu NA, Benli K. Intracranial and extracranial malformations in patients with craniofacial anomalies. J Craniofac Surg 21(5):1460-4 (2010). 32. 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, Machado Rosa RF, Unger SL, Renella R, Bonafé L, Spranger J, Unger S, Zabel B, Superti-Furga A. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet 43(2):132-7 (2011). 33. 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, 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, Munnich A, Cormier-Daire V. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. J Med Genet Mar 17. [Epub ahead of print] (2011) 34. Utine GE, Kiper PO, Salanci BV, Alanay Y, Aktaş D, Alikaşifoğlu M, Boduroğlu K, Tunçbilek E. Opinions of Turkish physicians towards termination of pregnancy for fetal disorders. Genet Couns. 22 (4):401-9 (2011) 35. Li Y, Bögershausen N, Alanay Y, Simsek Kiper PO, Plume N, Keupp K, Pohl E,Pawlik B, Rachwalski M, Milz E, Thoenes M, Albrecht B, Prott EC, Lehmkühler M, Demuth S, Utine GE, Boduroglu K, Frankenbusch K, Borck G, Gillessen-Kaesbach G, Yigit G, Wieczorek D, Wollnik B. A mutation screen in patients with Kabuki syndrome. Hum Genet 130(6):715-24 (2011). 36. Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PÖ, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Mégarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A,Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V. Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet 15;89(1):7-14 (2011). 37. Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joyé N, Pruvost S, Utine GE, Boduroglu K, Nitschke P, Fertitta L, Thauvin-Robinet C, Munnich A, Cormier-Daire V, Hennekam R, Colin E, Akarsu NA, Bole-Feysot C, Cagnard N, Schmitt A, Goudin N, Lyonnet S, Encha-Razavi F, Siffroi JP, Winey M, Katsanis N, Gonzales M, Vekemans M, Beales PL, Attié- Bitach T. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet 43(6):601-6 (2011). 38. Laue K, Pogoda HM, Daniel PB, van Haeringen A, Alanay Y, von Ameln S, Rachwalski M, Morgan T, Gray MJ, Breuning MH, Sawyer GM, Sutherland-Smith AJ, Nikkels PG, Kubisch C, Bloch W, Wollnik B, Hammerschmidt M, Robertson SP. Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. Am J Hum Genet 89(5):595-606 (2011). 39. Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C,Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Böhm D; FORGE Canada Consortium, Majewski J, Bulman DE, Wieczorek D, Boycott KM. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet 10;90(2):369-77 (2012). 40. Simon M, Campos-Xavier AB, Mittaz-Crettol L, Valadares ER, Carvalho D, Speck-Martins CE, Nampoothiri S, Alanay Y, Mihci E, van Bever Y, Garcia-Segarra N, Cavalcanti D, Mortier G, Bonafé L, Superti-Furga A. Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia. Am J Med Genet C Semin Med Genet 15;160C(3):230-7 (2012). 41. Fischer B, Dimopoulou A, Egerer J, Gardeitchik T, Kidd A, Jost D, Kayserili H, Alanay Y, Tantcheva-Poor I, Mangold E, Daumer-Haas C, Phadke S, Peirano RI, Heusel J, Desphande C,
Gupta N, Nanda A, Felix E, Berry-Kravis E, Kabra M, Wevers RA, van Maldergem L, Mundlos S, Morava E, Kornak U. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum Genet 131(11):1761-73 (2012). 42. Garcia Segarra N, Mittaz L, Campos-Xavier AB, Bartels CF, Tuysuz B, Alanay Y, Cimaz R, Cormier-Daire V, Di Rocco M, Duba HC, Elcioglu NH, Forzano F, Hospach T, Kilic E, Kuemmerle-Deschner JB, Mortier G, Mrusek S, Nampoothiri S, Obersztyn E, Pauli RM, Selicorni A, Tenconi R, Unger S, Utine GE, Wright M, Zabel B, Warman ML, Superti-Furga A, Bonafé L. The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. Am J Med Genet C Semin Med Genet.160C(3):217-29 (2012). 43. Daniel PB, Morgan T, Alanay Y, Bijlsma E, Cho TJ, Cole T, Collins F, David A, Devriendt K, Faivre L, Ikegawa S, Jacquemont S, Jesic M, Krakow D, Liebrecht D, Maitz S, Marlin S, Morin G, Nishikubo T, Nishimura G, Prescott T, Scarano G, Shafeghati Y, Skovby F, Tsutsumi S, Whiteford M, Zenker M, Robertson SP. Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity. Hum Mutat 33(4):665-73 (2012). 44. Nizon M, Huber C, De Leonardis F, Merrina R, Forlino A, Fradin M, Tuysuz B, Abu-Libdeh BY, Alanay Y, Albrecht B, Al-Gazali L, Basaran SY, Clayton-Smith J, Désir J, Gill H, Greally MT, Koparir E, van Maarle MC, MacKay S, Mortier G, Morton J, Sillence D, Vilain C, Young I, Zerres K, Le Merrer M, Munnich A, L Goff C, Rossi A, Cormier-Daire V. Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. Hum Mutat 33(8):1261-6 (2012). 45. Utine GE, Kiper PO, Alanay Y, Haliloğlu G, Aktaş D, Boduroğlu K, Tunçbilek E, Alikaşifoğlu M. Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability. Mol Syndromol 2(2):64-71(2012). 46. Nizon M, Alanay Y, Tuysuz B, Kiper PO, Geneviève D, Sillence D, Huber C, Munnich A, Cormier-Daire V. IMPAD1 mutations in two Catel-Manzke like patients. Am J Med Genet A 158A(9):2183-7 (2012). 47. Simşek-Kiper P, Alanay Y, Gülhan B, Lissewski C, Türkyılmaz D, Alehan D, Cetin M, Utine G, Zenker M, Boduroğlu K. Clinical and molecular analysis of RASopathies in a group of Turkish patients. Clin Genet 83(2):181-186 (2013). 48. Lorenz S, Lissewski C, Simsek-Kiper PO, Alanay Y, Boduroglu K, Zenker M, Rosenberger G. Functional analysis of a duplication (p.e63_d69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome. Hum Mol Genet. 2013 Jan 31. 49. Czeschik JC, Voigt C, Alanay Y, Albrecht B, Avci S, Fitzpatrick D, Goudie DR, Hehr U, Hoogeboom AJ, Kayserili H, Simsek-Kiper PO, Klein-Hitpass L, Kuechler A, López-González V, Martin M, Rahmann S, Schweiger B, Splitt M, Wollnik B, Lüdecke HJ, Zeschnigk M, Wieczorek D. Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. Hum Genet. 2013 Apr 9. [Epub ahead of print] 50. Utine GE, Haliloğlu G, Salanci B, Çetinkaya A, Kiper PÖ, Alanay Y, Aktas D, Boduroğlu Alikaşifoğlu M. A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy. J Child Neurol. 28(7):926-32 (2013). 51. Iida A, Simsek-Kiper PÖ, Mizumoto S, Hoshino T, Elcioglu N, Horemuzova E, Geiberger S, Yesil G, Kayserili H, Utine GE, Boduroglu K, Watanabe S, Ohashi H, Alanay Y, Sugahara K, Nishimura G, Ikegawa S. Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. HumMutat. 34(10):1381-6 (2013). 52. Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guillén- Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PÖ, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A,Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nürnberg P, Rahmann S,Vermeesch J, Lüdecke HJ, Zeschnigk M, Wollnik B. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet. 22(25):5121-35 (2013). 53. Cogulu O, Alanay Y, Toruner GA. Laboratory genetic testing in clinical practice. Biomed Res Int. 2013; 2013:532897. doi: 10.1155/2013/532897. Epub 2013 Jul 14. 54. Unal S, Alanay Y, Cetin M, Boduroglu K, Utine E, Cormier-Daire V, Huber C, Ozsurekci Y, Kilic E, Simsek Kiper OP, Gumruk F. Striking hematological abnormalities in patients with
microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis. Pediatr Blood Cancer. 61(2):302-5 (2014). 55. Sahiner UM, Alanay Y, Alehan D, Tuncbilek E, Alikasifoglu M. Methylene tetrahydrofolate reductase polymorphisms and homocysteine level in heart defects. Pediatr Int. 2013 Sep 24 56. Keupp K, Li Y, Vargel I, Hoischen A, Richardson R, Neveling K, Alanay Y, Uz E, Elcioğlu N, Rachwalski M, Kamaci S, Tunçbilek G, Akin B, Grötzinger J, Konas E, Mavili E, Müller-Newen G, Collmann H, Roscioli T, Buckley MF, Yigit G, Gilissen C, Kress W, Veltman J, Hammerschmidt M, Akarsu NA, Wollnik B. Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis. Mol Genet Genomic Med. 1(4):223-37 (2013). 57. Alanay Y, Ergüner B, Utine E, Haçarız O, Kiper PO, Taşkıran EZ, Perçin F, Uz E, Sağıroğlu MŞ, Yuksel B, Boduroglu K, Akarsu NA. TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia. Am J Med Genet A. 164(2):291-304 (2014). 58. Utine GE, Akpınar B, Arslan U, Kiper PÖ, Volkan-Salancı B, Alanay Y, Aktaş D, Haliloğlu G, Oğuz KK, Boduroğlu K, Alikaşifoğlu M. Neurochemical evaluation of brain function with 1H magnetic resonance spectroscopy in patients with fragile X syndrome. Am J Med Genet A. 164A(1):99-105 (2014). 59. Utine GE, Haliloğlu G, Volkan-Salancı B, Cetinkaya A, Kiper PO, Alanay Y, Aktaş D, Anlar B, Topçu M, Boduroğlu K, Alikaşifoğlu M. Etiological yield of SNP microarrays in idiopathic intellectual disability. Eur J Paediatr Neurol. 2014 Jan 25. 6.1.B Vaka Takdimi, Klinik Raporlar 1. Alanay Y, Boduroğlu K, Sönmez B, Orhan M. Oculo-palato-cerebral syndrome: a third case supporting autosomal recessive inheritance, Am J Med Genet, 130, 92-95 (2004) 2. Alanay Y, Aktas D, Utine E, Talim B, Onderoglu L, Caglar M, Tuncbilek E. Is Dandy-Walker malformation associated with "distal 13q deletion syndrome"? Findings in a fetus supporting previous observations, Am J Med Genet, 136, 265-268, (2005). 3. Boduroğlu K, Alanay Y, Koldan B, Tunçbilek E. Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women Response to Letter, Am J Med Genet,134, 462, (2005). 4. Alanay Y, Superti-Furga A, Karel F, Tuncbilek E. Spondylo-ocular syndrome: a new entity involving the eye and spine, Am J Med Genet,140, 652, (2006). 5. Alanay Y, Utine GE, Lachman RS, Krakow D, Tuncbilek E. Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome, Pediatr Radiol, 36, 970-973, (2006). 6. Cilliers D, Alanay Y, Boduroğlu K, Utine E, Tunçbilek E, Clayton-Smith. Cerebro-Facio- Thoracic dysplasia: expanding the phenotype, Clin Dysmorphol, 16, 121-125, (2007). 7. Mut M, Palaoglu S, Alanay Y, Ismailoglu O, Tuncbilek E. Cavernous malformation with Poland-Möbius syndrome. Case illustration. J Neurosurg. 107(1 Suppl):79 (2007). 8. Danielpour M, Wilcox WR, Alanay Y, Pressman BD, Rimoin DL. Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases.j Neurosurg. 107(6 Suppl):504-7 (2007). 9. Utine GE, Aktas D, Alanay Y, Gücer S, Tuncbilek E, Mrasek K, Liehr T. Distal partial trisomy 1q: report of two cases and a review of the literature. Prenat Diagn, 27:865-71 (2007). 10. Unger S, Antoniazzi F, Brugnara M, Alanay Y, Caglayan A, Lachlan K, Ikegawa S, Nishimura G, Zabel B, Spranger J, Superti-Furga A. Clinical and radiographic delineation of odontochondrodysplasia. Am J Med Genet A 15;146A:770-778 (2008). 11. Utine EG, Alanay Y, Aktas D, Alikasifoglu M, Boduroglu K, Vermeesch J, Tuncbilek E, Fryns JP. Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH. Eur J Med Genet. 51:343-350 (2008). 12. Utine GE, Alanay Y, Aktaş D, Talim B, Kale G, Tunçbilek E. Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance. Turk J Pediatr 50:287-290 (2008). 13. Erdoğan MK, Utine GE, Alanay Y, Aktaş D. Unilateral Peters' anomaly in an infant with 22q11.2 deletion syndrome. Clin Dysmorphol 17:289-290 (2008). 14. Lausch E, Hermanns P, Farin HF, Alanay Y, Unger S, Nikkel S, Steinwender C, Scherer G, Spranger J, Zabel B, Kispert A, Superti-Furga A. TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. Am J Hum Genet 83:649-655 (2008). 15. Sari N, Akyuz C, Aktas D, Gumruk F, Orhan D, Alikasifoglu M, Aydin B, Alanay Y, Buyukpamukcu M. Wilms tumor, AML and medulloblastoma in a child with cancer prone
syndrome of total premature chromatid separation and Fanconi anemia. Pediatr Blood Cancer. 53:208-210 (2009). 16. Utine GE, Alanay Y, Aktaş D, Alikaşifoğlu M, Boduroğlu K. Partial distal aphalangia, duplication of metatarsal IV, microcephaly and borderline intelligence: a third patient suggesting autosomal recessive inheritance. Am J Med Genet A 149A:1317-1318 (2009). 17. Simşek PO, Utine GE, Alikaşifoğlu A, Alanay Y, Boduroğlu K, Kandemir N. Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes. Turk J Pediatr. 51(3):294-7 (2009). 18. Türkkani-Asal G, Alanay Y, Turul-Ozgür T, Zenker M, Thiel C, Rauch A, Unal S, Gürgey A, Tezcan I. Mild clinical phenotype and subtle radiographic findings in an infant with cartilagehair hypoplasia. Turk J Pediatr 51(5):493-6 (2009). 19. Utine GE, Breckpot J, Thienpont B, Alanay Y, Aksoy C, Boduroğlu K, Devriendt K. A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis. Am J Med Genet A 152A(4):947-9 (2010). 20. Gok F, Crettol LM, Alanay Y, Hacıhamdioglu B, Kocaoglu M, Bonafe L, Ozen S. 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). 21. Ozsürekci Y, Yavuz ST, Alanay Y, Utine GE, Kalayci O. Cowden syndrome with bronchial asthma. Turk J Pediatr 52(3):330-2 (2010). 22. Kiper PÖ, Utine GE, Boduroğlu K, Alanay Y. Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance. Am J Med Genet A155A(9):2288-92 (2011). 23. Simşek-Kiper PO, Utine GE, Alanay Y, Aktaş D, Alikaşifoğlu M, Boduroğlu K. A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype. Turk J Pediatr. 53(5):558-60 (2011). 24. Yeşiltepe-Mutlu G, Ozsu E, Cizmecioğlu FM, Alanay Y, Hatun S. Spondyloenchondrodysplasia: a rare cause of short stature. Turk J Pediatr 53(4):464-6 (2011). 25. Yesilkaya Y, Hizal M, Karli Oguz K, Alanay Y. MRI findings of intracranial malformations in a case with Fraser syndrome. Clin Dysmorphol 21(4):234-6 (2012). 26. Kiliç E, Alanay Y, Utine E, Ozgen-Mocan B, Robinson PN, Boduroğlu K. Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.r537p in the TGFBR2 gene. Turk J Pediatr 54(2):198-202 (2012). 27. Kiraz A, Ozen S, Tubas F, Usta Y, Aldemir O, Alanay Y. Wiedemann-Rautenstrauch syndrome: report of a variant case. Am J Med Genet A 158A(6):1434-6 (2012). 28. Kılıç E, Utine E, Unal S, Haliloğlu G, Oğuz KK, Cetin M, Boduroğlu K, Alanay Y. Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II). Eur J Pediatr 171(10):1567-71 (2012). 29. Aldemir O, Ozen S, Erdem S, Kiraz A, Akarsu N, Alanay Y. Three patients resembling Teebi- Shaltout syndrome. Am J Med Genet A. 161(10):2570-5 (2013). 30. Yesil G, Guler S, Yuksel A, Alanay Y. Report of a patient with Temple-Baraitser syndrome. Am J Med Genet A. 2013 Dec 19. 6.2 Uluslararası bilimsel toplantılarda sunulan ve bildiri kitabında (Proceedings) basılan bildiriler 1. Boduroğlu K, Alanay Y, Alikaşifoğlu M, Aktaş D, Koldan B, Tunçbilek E. Methylenetetrahydrofolate reductase gene polymorphism: a maternal risk factor for Down syndrome? HGM 2002 Human Genome Meeting, Shangai, 186, 2002. (poster sunumu) 2. Alanay Y, Tunçbilek E. Celiac disease screening in children with Down syndrome: the first prevalence study from Turkey, European Human Genetics Conference, Birmingham, Eur J Hum Genet, 11(suppl 1):136, 2003. 3. Boduroğlu K, Alanay Y, Koldan B, Tunçbilek E. Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women, European Human Genetics Conference, Birmingham, Eur J Hum Genet, 11(suppl 1):137, 2003. 4. Boduroğlu K, Aktaş D, Alanay Y, Tunçbilek E. Two cases of Cri du Chat syndrome in the same family without a familial translocation or inversion, European Human Genetics Conference, Munich, Eur J Hum Genet; 12(suppl 1):143, 2004. 5. Alanay Y, Aktaş D, Talim B, Çağlar M, Tunçbilek E. Acrofacial dysostosis-nager type and alobar holoprosencephaly in a case with a previously undefined chromosomal abnormality, European Human Genetics Conference, Munich, Eur J Hum Genet, 12(suppl 1):120, 2004. 6. Boduroğlu K, Alanay Y, Tunçbilek E. A case of ring 18 with mild phenotypic features, 5th European Cytogenetics Conference, Madrid, Chromosome Research 2005; 13(suppl 1):66 7. Boduroğlu K, Alanay Y, Tunçbilek E. Cerebrofaciothoracic syndrome, European Human Genetics Conference, Prague, Eur J Hum Genet, 3(suppl 1): 81, 2005
8. Alanay Y, Superti-Furga A, Karel F, Tunçbilek E. Spondylo-ocular syndrome: a new entity involving the eye and spine, 7th Meeting of the International Skeletal Dysplasia Society, Martigny, Switzerland, 6, 2005 (poster sunumu) 9. Tunçbilek E, Alanay Y, Aktaş D, Boduroğlu K, Utine E, Volkan-Salancı B, Alikaşifoğlu M and Hacettepe FXS Study Group. Re-evaluation of individuals with FXS after 10 years(1995-2004) of molecular diagnostic experience in a tertiary Turkish center, The American Society of Human Genetics, 55th Annual Meeting, Salt Lake City, Utah, 719/W, 2005. (poster sunumu) 10. Alanay Y,Berker N, Elgin U, Volkan-Salancı B, Akarsu NA, Tunçbilek E. Autosomal dominant Peters anomaly in a large family without causative mutations in PAX6 and CYP1B1 genes, The American Society of Human Genetics, 55th Annual Meeting, Salt Lake City, Utah, 711/T, 2005. (poster sunumu) 11. Alanay Y, Balcı S, Costa T, Hamamy H, Russo A, Hilbert K, Wildhardt G, Brezinska R, Schumaher R, Superti-Furga A, Spranger J, Zabel B. Acromesomelic dysplasia type Maroteaux-Clinical spectrum and NPR2 mutations, 7th Meeting of the International Skeletal Dysplasia Society, Martigny, Switzerland, 50, 2005 (sözlü sunum) 12. Utine GE, Alanay Y, Aktaş D, Vermeesch JR, Tunçbilek E, Fryns JP. Detection of a complex chromosomal aberration in a dysmorphic patient by multicolor FISH and microarray CGH, Sixteenth European Meeting on Dysmorphology, Strausburg, France 2005 (sözlü sunum) 13. Boduroglu K, Cinel G, Alanay Y, Devrim İ, Karagöz T, Seçmeer G. Fibrodysplasia ossificans progressiva: a case with calcification of papillary muscle of left ventricle, European Human Genetics Conference, Amsterdam, Eur J Hum Genet ; 14(suppl 1): PO115, 2006 14. Rimoin D, Krakow D, Wilcox W, Ghizzoni L, Braddock S, Unger S, Superti-Furga A, Mortier G, Hall J, Alanay Y, Lachman R. Acrolaryngeal dysplasia:a distinct autosomal dominant acromelic syndrome. European Human Genetics Conference, Amsterdam, Eur J Hum Genet, 14(suppl 1): C10, 2006. (sözlü sunum) 15. Alanay Y, Alikaşifoğlu M, Aktaş D, Boduroğlu K, Utine E, Volkan-Salancı B, Tunçbilek E and Hacettepe FXS Study Group. A multidisciplinary approach to the management of individuals with fragile X syndrome. 10th International Fragile X Conference, Atlanta, Georgia, USA 2006 (sözlü sunum) 16. Utine GE, Erdogan K, Alanay Y, Aktaş DS, Boduroğlu K, Alikaşifoğlu M, Tunçbilek E. Radial hypoplasia in an infant with Trisomy 18. Eur J Hum Genet ; 15(suppl 1): PO229, 2007 17. Tunçbilek E, Utine GE, Taşar F, Alanay y, Tümer C, Çetin H, Saysel M, Balcı S, Aktaş D, Boduroğlu K, Alikaşifoğlu M. Gorlin syndrome in seven patients. Eur J Hum Genet ; 15(suppl 1): PO128, 2007 18. Alikaşifoğlu M, Alanay Y, Alehan D, Utine GE, Volkan-Salancı B, Boduroğlu K, Aktaş D, Tunçbilek E. Cardiac evaluation of 34 individuals with Fragile X syndrome. Eur J Hum Genet ; 15(suppl 1): PO116, 2007 19. Aktaş D, Alanay Y, Utine GE, Volkan-Salancı B, Genç A, Başer F, Sevinç Ş, Akyol U, Boduroğlu K, Alikaşifoğlu M, Belgin E, Tunçbilek E. Audiological evaluation of 36 males with Fragile X syndrome. Eur J Hum Genet ; 15(suppl 1): PO117, 2007 20. Utine E, Alanay Y, Aktas D,Boduroglu K,Alikasifoglu A,Tuncbilek E. Partial monosomy of distal 6q. CHROMOSOME RESEARCH;15: 70-70 (Suppl 1), 2007 21. Celik T, Utine E, Alanay Y, Aktas D, Boduroglu K, Alikasifoglu M, Tuncbilek E. The detection of subtelomeric chromosomal rearrangements in 100 patients with idiopathic mental retardation: Hacettepe University Experience. CHROMOSOME RESEARCH, 15: 70-70 (Suppl 1),2007 22. Aktas D, Utine E, Alanay Y, Gucer S, Tuncbilek E, Mrasek K, Liehr T. Two patients with distal partial trisomy 1q. CHROMOSOME RESEARCH, 15: 70-71 (Suppl 1), 2007 23. Volkan-Salanci B, Utine GE, Alanay Y, Aktas D, Boduroglu K, Alikasifoglu M, Tuncbilek E. Chromosomal abnormalities presented with seizures. CHROMOSOME RESEARCH, 15: 84 (Suppl 1), 2007 24. Kurtul T, Boduroglu K, Alanay Y, Utine E, Salancı BV, Aktas D, Alikasifoglu M, Tuncbilek E. Clinical evaluation of Prader-Willi and Angelman syndrome patients with 15q11-13 deletion. CHROMOSOME RESEARCH, 15: 96-96 (Suppl 1), 2007 25. Boduroglu K, Alanay Y, Alikasifoglu M, Aktas D, Utine GE, Tuncbilek E. Bloom syndrome in a child with severe short stature and wilms tumor. CHROMOSOME RESEARCH, 15: 142-143 (Suppl 1), 2007 26. Alanay Y, Alikasifoglu M, Aktas D, Boduroglu K, Utine GE, Tuncbilek E. Neutropenia and positive chromosomal breakage test in a mosaic Turner case. CHROMOSOME RESEARCH, 15: 89 (Suppl 1), 2007 27. Erdogan MK, Utine GE, Alanay Y, Volkan-Salancı B, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E. Unilateral Peter s anomaly type I in an infant with 22q11.2 deletion syndrome.chromosome RESEARCH, 15: 100 (Suppl 1), 2007
28. Alanay Y, Krakow D, Rimoin D, Lachman R. Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988-2006) Eur J Hum Genet ; 15(suppl 1): PO243, 2007 29. Superti-Furga A, Antoniazzi F, Brugnara M, Alanay Y, Lachlan K, Caglayan AO, Ikegawa S, Nishimura G, Zabel B, Spranger J, Unger S. Towards a better delineation of odontochondrodysplasia. 8th Meeting of the International Skeletal Dysplasia Society, Albi, France S:15 (2007) (sözlü sunum) 30. Simon M, Nampoothiri S, Alanay Y, van Bever Y, Meradji M, Mortier G, Superti-Furga A. Spondylo-megaepiphyseal-metaphyseal dysplasia: three cases of a rare but distinct entity. 8th Meeting of the International Skeletal Dysplasia Society, Albi, France S:18 (2007) (sözlü sunum) 31. Danielpour M, Wilcox B, Alanay Y, Pressman B, Rimoin D. Dynamic cervicomedullary compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. 8th Meeting of the International Skeletal Dysplasia Society, Albi, France S:47 (2007) (sözlü sunum) 32. Alanay Y, Krakow D, Rimoin D, Lachman R. Angulated femurs and skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988-2006). 8th Meeting of the International Skeletal Dysplasia Society, Albi, France S:52 (2007) 33. Akarsu NA, Kayserili H, Vargel I, Alanay Y, Candan S, Tuncbilek G, Uyguner O, Balci S. An undescribed phenotype associated with cranio-fronto-facio-nasal malformations, total alopecia and genital abnormalities. Eur J Hum Genet ; 16(suppl 2): CO1.6, 2008 34. Akcoren Z, Utine E, Korkmaz A, Talim B, Gucer S, Orhan D, Tekinalp G, Yigit S, Onderoglu L, Yurdakok M, Alanay Y, Boduroglu K, Ozkutlu S, Ciftci A, Durukan T, Kale G. Perinatal Mortality Analaysis in a University Hospital in Turkey.Paediatric Pathology Society 54th Annual Scientific Meeting, 4-6th September 2008, Helsinki, Finland (sözlü sunum) 35. Alanay Y, Utine GE, Boduroglu K, Robertson S. Cerebro-fronto-facial syndrome / Winter type 3: FLNA is not the causative gene.13th Manchester Dysmorphology Conference, 28-31 October 2008, Manchester, UK, 2008 (poster sunumu) 36. Utine GE, Alanay Y, Aksoy C, Aktas D, Alikaşifoglu M, Boduroglu K. A second patient with Tsukahara syndrome: Type A1 brachydactyly, short stature, microcephaly, mental retardation and ptosis. Nineteenth European Meeting on Dysmorphology, 4-5 September 2008, Le Bischenberg, Belgium (sözlü sunum) 37. Hellemans J, Simon M, Alanay Y, van Bever Y, Meradji M, Superti-Furga A, Mortier G. Spondylo-megaepiphyseal dysplasia: a rare but distinct skeletal disorder. 13th Manchester Dysmorphology Conference, 28-31 October 2008, Manchester, UK (sözlü sunum) 38. Utine GE, Alanay Y, Aktaş D, Alikaşifoğlu M, Boduroğlu K. Partial distal aphalangia, duplication of metatarsal IV, microcephaly and borderline intelligence: a third patient suggesting autosomal recessive inheritance. Eur J Hum Genet; 17(suppl 2): PO2.033, May 2009 39. Akarsu NA, Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit O, Uyguner O, Candan S, Okur H, Kaygın S, Balci S, Mavili E, Alikasifoglu M, Wollnik B. ALX4 dysfunction distrupts craniofrontonasal and hair follicle development. Eur J Hum Genet; 17(suppl 2): CO4.3, May 2009 40. Distruption in ALX1 (CART1) causes anophthalmia and severe facial clefting. Eur J Hum Genet; 18(suppl 1): C14.5, June 2010 41. Bayram Y, Alanay Y, Utine GE, Talim B,Önderoğlu L, Huber C, Aktaş D, Alikaşifoğlu M, Cormier-Daire V, Boduroğlu K. 3M Syndrome Fetus: Diagnosed At Autopsy Confirmed With Molecular Analysis. Mediterranean Medical Genetics Meeting, 28 June-1 July 2009, Ankara (poster sunumu) 42. Kutukcu B, Aktaş D, Alikaşifoğlu M, Alanay Y, Utine GE, Boduroğlu K. Ullrich-Turner Syndrome with Poland Anomaly. Mediterranean Medical Genetics Meeting, 28 June-1 July 2009, Ankara (poster sunumu) 43. Alanay Y, Mittaz Crettol L, Utine GE, Ozen S, Mihci E, Superti-Furga A, Bonafe L. Progressive Pseudorheumatoid Dysplasia in Mediterranean/Middle Eastern families: further evidence supporting a common ancestor mutation.9th Bienneal Meeting International Skeletal Dysplasia Society, July 16-19, 2009, Boston, USA (poster sunumu) 44. Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Alanay A, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Byers P, Eyre D, Merrill AE, Cohn DH, Akarsu NA, Krakow D. Mutations in a gene encoding a rough endoplasmic reticulum protein causes autosomal recessive progressive deforming osteogenesis imperfect. 9th Bienneal Meeting International Skeletal Dysplasia Society, July 16-19, 2009, Boston, USA (sözlü sunum) 45. Hellemans J, Simon M, Alanay Y, Mihci E, Rafai L, Dheedene A, van Bever Y, Meradji M, Superti-Furga A, Mortier G. Homozygous inactivating mutations in the NKX3-2 gene result in
spondylo-megaepiphyseal-metaphyseal dysplasia. 9th Bienneal Meeting International Skeletal Dysplasia Society, July 16-19, 2009, Boston, USA (sözlü sunum) 46. Kim OK, Song HR, Nishimura G, Superti-Furga A, Unger S, Alanay Y, Park SS. Distinct radiological findings of Desbuquois dysplasia in seven new cases. 9th Bienneal Meeting International Skeletal Dysplasia Society, July 16-19, 2009, Boston, USA (sözlü sunum) 47. Lausch E, Hermanns P, Farin HF, Alanay Y, Unger S, Nikkel S, Steinwender C, Scherer G, Spranger J, Zabel B, Kispert A, Superti-Furga A. TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. 9th Bienneal Meeting International Skeletal Dysplasia Society, July 16-19, 2009, Boston, USA (sözlü sunum) 48. Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Alanay A, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Byers P, Eyre D, Merrill AE, Cohn DH, Akarsu NA, Krakow D. Mutations in a gene encoding a rough endoplasmic reticulum protein causes autosomal recessive progressive deforming osteogenesis imperfecta. 59 th Annual Meeting of the American Society of Human Genetics, October 20-24,2009, Honolulu, Hawaii, ABD (sözlü sunum) 49. Uz E, Alanay Y, Aktaş D, Vargel İ, Güçer Ş, Tunçbilek G, von Eggeling F, Yılmaz E, Deren Ö, Posorski N, Ozdag H, Liehr T, Balcı S, Alikaşifoğlu M, Wollnick B, Akarsu NA. Another gene for autosomal recessive ALX-related frontonasal dysplasias: 6.3 Yazılan uluslararası kitaplar veya kitaplarda bölümler Alanay Y, Rimoin DL. Chapter 90: Chondrodysplasias p428-429. Seventh Edition, Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism. Publisher: American Society for Bone and Mineral Research (2008) Alanay Y, Rimoin DL. Chapter 95: Chondrodysplasias p794-804. Eigth Edition, Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism. Publisher: American Society for Bone and Mineral Research (2013) Krakow D, Alanay Y. FKBP10 (FKBP65 Protein), Osteogenesis Imperfecta and Bruck Syndrome Osteogenesis Imperfecta, 1st Edition A Translational Approach to Brittle Bone DiseaseShapiro, Byers, Glorieux, Sponseller (2013) 6.4 Ulusal hakemli dergilerde yayınlanan makaleler 1. Yurdakök K, Alanay Y. Dünyada ve Türkiye de Çocukların Durumu. Hacettepe Üniversitesi Katkı Pediatri Dergisi, 25:13-26 (2003). 2. Korkmaz A, Çınar A, Tekşam Ö, Yurdakök M, Alanay Y, Balcı. Femoral hipoplazi ve değişik yüz görünümü sendromu: Bir vaka takdimi, Çocuk Sağlığı ve Hastalıkları Dergisi, 47:205-208 (2004). 3. Alanay Y, Gümüş E, Sekkin M, Güler S, Çakar N. Asymmetry inside the symmetry:mechanisms and disorders of laterality, Gynecol Obstet Reprod Med, 12, 70-78 (2006). 4. Alanay Y. Genodermatozlar ve Kalıtımla İlgili Temel Genetik Kavramlar, Türkiye Klinikleri J Pediatr Sci, 3(8):10-13 (2007). 5. Korkmaz A, Akçören Z, Alanay Y, Özyüncü Ö, Yiğit Ş, Deren Ö, Talim B, Orhan D, Güçer Ş, Yurdakök M, Önderoğlu L, Kale G, Tekinalp G, Özkutlu S, Çiftçi AÖ, Şimşek PÖ, Ütine GE, Durukan T, Tunçbilek E. Hacettepe Üniversitesi Hastanesi 2001-2006 dönemi perinatal mortalite analizi, Çocuk Sağlığı ve Hastalıkları Dergisi, 53:175-188 (2010). 6. Alanay Y. İskelet Displazileri, Türkiye Klinikleri Çocuk Genetik Hastalıkları Özel Sayısı (basımda) (2011). 6.5 Ulusal bilimsel toplantılarda sunulan ve bildiri kitabında basılan bildiriler 1. Genç A, Alanay Y, Başar F. Down sendromlu çocuklarda odyolojik bulgular. 26. Türk Otorinolarengoloji ve Baş-Boyun Cerrahisi Kongresi, 2001 (sözlü sunum) 2. Alanay Y, Tunçbilek E. Down sendromlu 100 çocukta çölyak hastalığı taraması. 46. Milli Pediatri Kongresi, 2002 (sözlü sunum) 3. Balcı S, Güçer Ş, Orhan D, Alanay Y, Karagöz T. One-day-old male patient with trisomy 13 presenting with unusual malformations; skull and scalp defects, a complex cardiac anomaly and aplasia of 5 th nails. VI. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, 2004 (sözlü sunum) 4. Canpolat FE, Armangil D, Sül D, Alanay Y, Tekinalp G. Popliteal pterygium sendromu ve hipotiroidi birlikteliği. 15. Ulusal Neonatoloji Kongresi (UNEKO-15), Antalya, 2007 (poster sunumu)
5. Gündüz Ö, Ersoy Evans S, Boduroğlu K, Alanay Y, Özkaya Ö. İnfantil sistemik hyalinozis, bir olgu sunumu, Dermatoloji-2007 Bahar Simpozyumu, İstanbul, 2007 (poster sunumu) 6. Kütükcü B, Alanay Y, Utine GE, Alikasifoglu M. Malpuech Syndrome: Caudal Appendage as Clue in Facial Clefting Syndromes. IVth Dysmorphology Days / Cranirare Educational Contribution, April 24-25,2009, Istanbul, Turkey (sözlü sunum) 7. Utine GE, Alanay Y, Boduroglu K. Overlapping Findings Of Goldenhar, Treacher Collins And Nager Acrofacial Syndromes In A Patient With Sensorineural Hearing Loss. IVth Dysmorphology Days / Cranirare Educational Contribution, April 24-25,2009, Istanbul, Turkey (sözlü sunum) 8. Aldemir O, Alanay Y, Utine GE, Aktas D, Alikasifoglu M, Boduroglu K. Further Delineation Of Teebi-Shaltout Syndrome. IVth Dysmorphology Days / Cranirare Educational Contribution, April 24-25,2009, Istanbul, Turkey (sözlü sunum) 9. Bayram Y, Alanay Y, Utine GE, Aktas D, Alikasifoglu M, Boduroglu K. Nager Acrofacial Dysostoses Syndrome. IVth Dysmorphology Days / Cranirare Educational Contribution, April 24-25,2009, Istanbul, Turkey (sözlü sunum) 10. Alanay Y, Mittaz Crettol L, Utine GE, Ozen S, Mihci E, Superti-Furga A, Bonafe L. Progressive Pseudorheumatoid Dysplasia in Mediterranean/Middle Eastern families: further evidence supporting a common ancestor mutation.9th Bienneal Meeting International Skeletal Dysplasia Society, July 16-19, 2009, Boston, USA (poster sunumu) 11. Kılıç E, Utine GE, Alanay Y, Boduroğlu K. Cockayne Sendromun Tanılı Dört Hastanın Klinik Bulguları. 54. Türkiye Milli Pediatri Kongresi, 20-24 Ekim 2010, Antalya (poster sunumu) 12. Kılıç E, Utine GE, Alanay Y, Korkmaz A, Boduroğlu K. Olgu Sunumu:Cantrell Pentalojisi. 54. Türkiye Milli Pediatri Kongresi, 20-24 Ekim 2010, Antalya (poster sunumu) 13. Kılıç E, Utine GE, Kılıç M, Alanay Y, Ezgü FS, Boduroğlu K. Nadir görülen bir hastalık: tümöral kalsinozis. 54. Türkiye Milli Pediatri Kongresi, 20-24 Ekim 2010, Antalya (poster sunumu) 14. Kılıç E, Utine GE, Alanay Y, Boduroğlu K. Tip I Triko-rino-falageal sendrom tanısı alan bir adölesan vaka. 3. Adolesan Sağlığı Kongresi, 26-28 Kasım 2010, İstanbul (poster sunumu) 15. Şimşek Kiper PÖ, Alanay Y, Gülhan B, Lissewski C, Türkyılmaz D, Alehan D, Çetin M, Utine GE, Zenker M, Boduroğlu K. Neuro-Cardio-Facio-Cutaneous syndrome: Clinical and Molecular Analysis of Patients from Hacettepe. Vth Dysmorphology Days, April 29-30 2011, İstanbul (sözlü sunum) 16. Yeşil Sensoy G, Güran T, Sayar C, Alanay Y. OFD Spectrum Disorders; A case report and review. Vth Dysmorphology Days, April 29-30 2011, İstanbul (sözlü sunum) 6.6 Diğer yayınlar (Kitap bölümü çevirmenliği) 1. Alanay Y. Rudolf s Fundamentals of Pediatrics Türkçe Baskı. 2003. Bölüm:5. Klinik Genetiğe Yaklaşım (An Approach to Clinical Genetics), sayfa: 182-220. 2. Alanay Y, Boduroğlu K. Thompson & Thompson, Genetics in Medicine Türkçe Baskı. 2004. Bölüm: 10. Clinical Cytogenetics: Disorders of the Autosomes and the Sex Chromosomes, pages: 157-179. 3. Alanay Y, Alikasifoglu M. Thompson & Thompson, Genetics in Medicine Türkçe Baskı. 2004. Bölüm: 17. Genetic aspects of Development, pages: 335-358. 7. Projeler Yürütücülüğü yapılan tamamlanmış TUBİTAK PROJESİ SBAG-2893 (104S428) 7. İdari Görevler a. ACU Çocuk Sağlığı ve Hastalıkları AD, Çocuk Genetik Hastalıkları BD Başkanı (2014-) b. ACU Tıp Fakültesi DIV Koordinatörlüğü (2013-2014) 9. Bilimsel Kuruluşlara Üyelikler a. International Skeletal Dysplasia Society b. European Society of Human Genetics (Board Üyesi) c. Milli Pediatri Derneği d. Çocuk Genetik Hastalıkları Derneği (Kurucu Üye) e. Türk Pediatri Kurumu f. Türk Tabipleri Birliği 10. Ödüller a. Hacettepe Üniversitesi 2002-2003 Akademik Yılı Araştırma Grubu Başarı Ödülü Perinatal Mortalite Çalışma Grubu (2003) b. TUBİTAK Yurt Dışı Doktora Sonrası Araştırma Burs Programı Kodu: 2219 c. Türkiye Plastik ve Rekonstrüktif Estetik Cerrahi Derneği 2010 Doğsan Bilim Ödülü Birincilik ALX e Bağlı Otozomal Resesif Frontonazal Displazi Spektrumunun Yeni Genetik Temelli Sınıflaması ve Cerrahi Tedavi Yaklaşımları (2010) d. Hacettepe Üniversitesi 2009-2010 Akademik Yılı Bilimde Teşvik Ödülü (2010)