1. Topaloglu R, Aktas D, Bakkaloglu A, Balcı S, Dogru D, Oztürk R. Diploid-triploid and tetraploid mosaicism in a child with cryptogenic cirrhosis and membranous  glomerulonephritis a causal relationship or coincidental association. Turk J Pediatr. 1998; 40(1): 139-143.
2. Aktas D, Ayhan A, Tuncbilek E, Ozdemir A, Uzunalimoglu B. No evidence for overexpression of the p53 protein and mutations in exons 4-9 of the p53 gene in a large family with adenomatous polyposis.  Am J Gastro. 1998; 93(9): 1524-1526
3. Tucbilek E, Alikasifoglu M, Boduroglu K, Aktas D, Anar B. Frequency of fragile X syndrome among the Turkish mental retardation patients of unknown etiology.   Am J Med Genet 1999; 84 (3): 202-203.
4. Balcı S, Aktas D. Mucinous carcinoma of the colon in a 16-year-old Turkish boy with Bloom syndrome. Cytogenetic, histopathologic, p53 gene and protein expression studies. Cancer Genet Cytogenet, 1999; 111 (1): 45-48
5. Balcı S, Altınok G, Ozaltın F, Aktas D, Niron EA, Onol B. Laryngeal atresia presenting as fetal ascites, olygohydramnios and lung appearance mimicking cystic adenomatoid malformation of lung in a 25-week-old fetus with Fraser syndrome. Prenatal Diagnosis 1999; 29: 856-858.
6. Aktas D, Yenicesu I, Hıcsonmez G, Tuncbilek E. Loss of maternal allele in a child with myelodysplastic syndrome and monosomy 7. Am J Hematol 1999; 62: 49-51
7. Koc A, Oner R, Oner C, Aktas D, Sozen M, Tuncbilek E, Altay C. Myelodysplastic syndrome (MDS) associated with increased hemoglobin F and Trisomy 8: Presentation of a patient. Hematol Cell Ther 1999; 41: 187-189.
8. Akbıyık F, Balcı S, Akkoyun I, Aktas D, Cakmak O. Type 1 sirenomelia in one of male twins, with imperforate anus in the other male twin. Clin Dysmorphol 2000; 9(3): 227-229.
9. Aktas D, Koc A, Boduroglu K, Hicsonmez G, Tuncbilek E. Myelodysplastic syndrome associated with monosomy 7 in a child with Bloom’s syndrome. Cancer Genet Cytogenet 2000; 116: 44-46.
10. Tuncbilek E, Alikasifoglu M, Aktas D, Duman F, Yanık H, Anar B, Oostra B, Willemsen R. Screening for the Fragile X syndrome among mentally retarded males by hair root analysis. Am J Med Genet 2000; 95: 105-107.
11. Aktas D, Ozen H, Atsu N, Tekin A, Sozen S, Tuncbilek E. Glutathione S-transferase (GSTM1) gene polymorphism in bladder cancer patients: a marker for invasive bladder cancer? Cancer Genet Cytogenet 2001;125: 1-4.
12. Aktas D, Cetin M, Hıcsonmez G, Tuncbilek E. Tetrasomy 8 as a primary chromosomal abnormality in a child with acute megakaryoblastic leukemia: A case report and review of the literature. Cancer Genet Cytogenet. 2001; 26: 166-168.
13. Hıcsonmez G, Cetin M, Yenicesu I, Olcay L, Koc A, Aktas D, Tuncbilek E, Tuncer M. Evaluation of 33 children with myelodysplastic syndrome: importance of extramedullary disease as a presenting symptom. Leukemia and Lymphoma. 2001:42(4): 665-674
14.  Aktas D, Tuncbilek E, Onderoglu L. Chromosomal mosaicism in a pregnant woman treated with acyclovir for herpes simplex encephalitis. Am J Perinatol. 2001;18(4): 179-183.
15.   Aktas D, Inci Guney, Mehmet Alikasifoglu, Kunter Yuce, Ergül Tunçbilek. CYP1A1 gene polymorphism and risk of epithelial ovarian neoplasm. Gynecologic Oncology 2002; 86: 124-128.
16.  Aktas D, Arno MJ, Rassool F, Mufti GJ. Analysis of Chk2 in patients with myelodysplas-tic syndromes. Leukemia Research, 2002; 26: 985-987
17.  Aktas D, Hascicek M, Sozen S, Ozen H, Tuncbilek E. CYP1A1 and GSTM1 polymorphic genotypes in patients with prostate cancer in a Turkish population. Cancer Genet Cytogenet. 2004 Oct 1;154(1):81-5.
18.  Cetin II, Aktas D, Tuncbilek E. Ipsilateral foot and controlateral hand anomalies in a patient with Poland-Moebius syndrome. Eur J Med Genet 2005:48;183-187.
19. 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 A. 2005 Jul 30;136(3):265-8.
20. Tozum TF, Berker E, Akincibay H, Ozer O, Aktas D, Tezcan I, Sekerci SC, El H, Eratalay K, Tuncbilek E. Tetraploid/diploid mosaicism with generalized aggressive periodontitis.  J Periodontol 2005; 76(9): 1567-1571.
21. 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. Tr J Pediatr 2005:47:327-333
22. Taskıran C, Aktas D, Yigit-Celik N, Alikasifoglu M, Tunçbilek E, Ayhan A.                                                      CYP1A1 gene polymorphism as a risk factor for cervical intraepithelial neoplasia and invasive cervical cancer. Gynecol Oncol, 2006, Jan 3
23.  Balcı S, Engiz O, Aktas D, Vargel I, Beksac S, Mrasek K, Vermeesch J, Liehr T. Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies. AJMG, 2006; 140A: 628-632
24.  Aktas D, Alikasifoglu M, Gonc N, Senocak ME,Tuncbilek E. Isodicentric Y (p11.32) Chromosome In An Infant With Mixed Gonadal Dysgenesis. Eur J Med Genet. 2006; 49: 141-149.
25. Lale Olcay, Sevgi Yetgin, Esra Erdemli, Manuela Germeshausen, Dilek Aktaş, Yahya Büyükaşık,  Hamza Okur. Observations on Congenital Dysgranulopoietic Neutropenia: A Neutropenic Girl and her Non-neutropenic mother with Recurrent Aphtous Stomatitis. Pediatric Blood & Cancer  2006 May 1; [Epub ahead of print]
26. Koc E, Bayrak G, Suher M, Ensari C, Aktas D, Ensari A. Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood (Case Report). Nephrology (Carlton). 2006 Apr;11(2):81-4.
27.  Utine GE, Aktas D. Mosaicism for terminal deletion of 4q. Genet Counsel 2006; 17:205-209
28. Esinler I, Aktas D, Alikasifoglu M, Tuncbilek E, Ayhan A. CYP1A1 Gene Polymorphism and Risk of Endometrial Hyperplasia and Endometrial Carcinoma. Int J Gynecol Cancer. 2006 May-Jun;16(3):1407-11
29.  Tefs K, Gueorguieva M, Klammt J, Allen CM, Aktas D, Anlar FY, Aydogdu SD, Brown D, Ciftci E, Contarini P, Dempfle CE, Dostalek M, Eisert S, Gokbuget A, Gunhan O, Hidayat AA, Hugle B, Isikoglu M, Irkec M, Joss SK, Klebe S, Kneppo C, Kurtulus I, Mehta RP, Ornek K, Schneppenheim R, Seregard S, Sweeney E, Turtschi S, Veres G, Zeitler P, Ziegler M, Schuster V. Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients. Blood. 2006;108(9):3021-6.
30. Aktas D, Tuncbilek E. Myelodysplastic syndrome associated with monosomy 7 in childhood: a retrospective study. Cancer Genet Cytogenet: 2006;171(1):72-75.
31. Alanay Y, Unal F, Turanlı G, Alikasifoglu M, Alehan D, Akyol U, Belgin E, Sener C, Aktas D, Boduroglu K, Utine E, Volkan-Salancı B, Ozusta S, Genc A, Basar F, Sevinc S, Tuncbilek E. A multidisciplinary approach to the management of individuals with fragile X syndrome. J Int Dis Res. 2007; 51:151-161
32. Balcı S, Unal A, Aktas D, Liehr T, Gross M, Mrasek K, Saygı S. Bilateral periventricular nodular heterotopia, severe learning disability and epilepsy in a male patient with 46,XY,der(19)t(X;19)(q11.1-11.2;p13.3). Dev Med Child Neurol 2007;49:219-224.
33. 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. 2007 Sep;27(9):865-71
34. Taylan H, Kiratli H, Aktas D Monosomy 7 mosaicism in metastatic choroidal melanoma. Cancer Genet Cytogenet. 2007 Aug;177(1):70-2.
 35. Utine GE, Aktas D, Boduroglu M, Alikasifoglu M, Tuncbilek E. Coexistent mosaic monosomy 21 and fragile X syndrome. Genet Couns. 2007;18(2):171-7.
    36.  Liehr T, Utine GE, Trautmann U, Rauch A, Kuechler A, Pietrzak J, Bocian E, Kosyakova N, Mrasek K, Boduroglu K, Weise A, Aktas D. Neocentric small supernumerary marker chromosomes (sSMC)--three more cases and review of the literature. Cytogenet Genome Res. 2007;118(1):31-7
36. Engiz O, Balci S, Unsal M, Ozer S, Oguz KK, Aktas D. 31 cases with oculoauriculovertebral dysplasia (Goldenhar syndrome): clinical, neuroradiologic, audiologic and cytogenetic findings. Genet Couns. 2007;18(3):277-88.
38. Esinler I, Aktas D, Otegen U, Alikasifoglu M, Yarali H, Tuncbilek E. CYP1A1 gene polymorphism and polycystic ovary syndrome. Reprod Biomed Online. 2008 Mar;16(3):356-60
39. 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. 2008 Mar 27
40. Manvelyan M, Riegel M, Santos M, Fuster C, Pellestor F, Mazaurik ML, Schulze B, Polityko A, Tittelbach H, Reising-Ackermann G, Belitz B, Hehr U, Kelbova C, Volleth M, Gödde E, Anderson J, Küpferling P, Köhler S, Duba HC, Dufke A, Aktas D, Martin T, Schreyer I, Ewers E, Reich D, Mrasek K, Weise A, Liehr T. Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature. Int J Mol Med. 2008 Jun;21(6):705-12.
41.  Utine GE, Alanay Y, Aktaş D, Talim B, Kale G, Tunçbilek EPseudo-trisomy 13 in   a fetus: further support for autosomal recessive inheritance. Turk J Pediatr. 2008 May-Jun;50(3):287-90.
42. Erdoğan MK, Utine GE, Alanay Y, Aktaş D.Unilateral Peters' anomaly in an infant        with 22q11.2 deletion syndrome. Clin Dysmorphol. 2008 Oct;17(4):289-90.
43. 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. 2009 Jun;149A(6):1317-8.
44. Aktas D, Weise A, Utine E, Alehan D, Mrasek K, von Eggeling F, Thieme H, Tuncbilek E, Liehr T. Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report. Mol Cyto Genet. 2009 Jun 30;2:14.
45. Utine E, Celik T, Alanay Y, Koduroglu K, Alikasifoğlu M, Tuncbilek E, Aktas D. Subtelomeric rearrengements in mental retardation: Hacettepe University experience in 130 patients. Turk J Pediatr. 2009; 52; 199-206.
46. 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 protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 2010 Apr 9;86(4):551-9. Epub 2010 Apr 1.
47. 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. 2010 May 14;86(5):789-96. Epub 2010 May 6.
48. Aktas D, Utine EG, Mrasek K, Weise A, von Eggeling F, Yalaz K, Posorski N, Akarsu N, Alikasifoglu M, Liehr T, Tuncbilek E. Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair. Mol Cytogenet. 2010 May 28;3(1):10.
49. Aktas D, Gultekin M, Kabacam S, Alikasifoglu M, Turan AT, Tulunay G, Kose MF, Ortac F, Yüce K, Tunçbilek E, Ayhan A. dentification of point mutations and large rearrangements in the BRCA1 gene in 667 Turkish unselected ovarian cancer patients. Gynecol Oncol. 2010 Oct;119(1):131-5. Epub 2010 Jul 16.
50. 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 Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta. Am J Hum Genet. 2010 Oct 8;87(4):572-3.
51. Klammt J, Kobelt L, Aktas D, Durak I, Gokbuget A, Hughes Q, Irkec M, Kurtulus I, Lapi E, Mechoulam H, Mendoza-Londono R, Palumbo JS, Steitzer H, Tabbara KF, Ozbek Z, Pucci N, Sotomayor T, Sturm M, Drogies T, Ziegler M, Schuster V. Identification of three novel plasminogen (PLG) gene mutations in a series of 23 patients with low PLG activity. Thromb Haemost. 2010 Dec 21;105(4). [Epub ahead of print].
52. Akgül S, Derman O, Alikaşifoğlu M, Aktaş D. CYP1A1 polymorphism in adolescents with polycystic ovary syndrome. Int J Gynaecol Obstet. 2011 Jan;112(1):8-10. Epub 2010 Oct 20.
53. Demir HA, Varan A, Utine EG, Aktaş D, Oğuz B, Rama D, Büyükpamukçu M. WAGR Syndrome With Tetralogy of Fallot and Hydrocephalus. J Pediatr Hematol Oncol. 2011 Feb 28. [Epub ahead of print]

1. Balcı S, Aktas D, Onol B. A case of triploid syndrome with postmortem findings. European Society of Human Genetics 24th Annual Meeting. Denmark, Elsinore, 27-31 May, 1992.
2. S Balcı, Aktas D, Onol B, Onderoğlu L, Bostanoglu S, Güngör N, Koparal S, Eryılmaz M, Gokoz O, Altınok G.  Two cases of prenatally diagnosed early amnion rupture sequence with postmortem examination. “The fetus is a patient" VIth International Post Graduate Course with Scientific  Participation. 3-5 May, 1993.
3. Balcı S, Onol B, Aktas D, Niron EA, Altonok G, Delibas M. Prenatal  diagnosis of a Fraser Syndrome with ultrasound and postmortem examination : Hellenic Association of Medical Genetics And Aristatle University of Thessaloniki. 1st Balkan Meeting on Human Genetics. Greece, Thessaloniki,. August 31- September 3, 1994.
4. Alikasifoglu M, Tunçbilek E, Aktas D. Detection of aneuploidy by flouresence in situ hybridization to interphase and metaphase amniocytes. 2th Balkan Meeting on Human Genetics, Turkey, Istanbul, 3-6 September, 1996.
5. Balcı S, Aktas D, Enünlü T, Güler Ç, Alikasifoglu M. Chromosomal abnormalities in 189 couples with recurrent abortions. 2th Balkan Meeting on Human Genetics, Turkey, İstanbul, September, 1996.
6. Aktas D, Balcı S, Ayhan A, Küçükali T. Cytogenetic abnormalities in undifferantiated of the bilateral ovary. 2th Balkan Meeting on Human Genetics, Turkey, Istanbul, September , 1996.
7. Aktas D, Ayhan A, Balcı S, Ayhan A, Tuncer S, Erhan Y. p53 gene and protein abnormalities in familial ovarian cancers. 2th Balkan Meeting on Human Genetics, Turkey, Istanbul, September, 1996.
8.  Balcı S,  Aktas D, Caglar M, Akcören Z, Kutluk T, Tanyel C, Ayhan A, Tınaztepe K. Mucinous carcinoma of  the colon in a 16 yr old Turkish boy with Bloom’s syndrome: ccytogenetic, histopathologic, p53 gene and protein expression studies. Eur J Hum Genet. 1996; 4 (Supp 1): 56. 
9. Aktas D, Ayhan A,  Ozdemir A,  Uzunalimoglu B, Rasa K. No evidence of the p53 protein and mutations in exons 4-9 of the p53 gene in a large family with adenomatous poyposis. Eur J Hum Genet. 1996; 4 (Supp1): 55.
10. Balcı S, Beksac S, Aktas D, Boduroğlu K, Kale G, Ercal D, Onol B. An unusual familial chromosomal translocation in both parents: Mother 45,XX, t(14q;21q), father 46,XY,t(1;4)(p36.1;p14): Results of ten consecutive pregnancies with clinical, cytogenetic and postmortem findings. Cytogenetics and Cell Genetics. 1997; 77(1-2): 87 .
11. Alikasifoglu M, Tuncbilek E, Aktas D. Prenatal detection of aneuploidies by flourescence in situ hybridization and maternal cell contamination in uncultured amniotic fluid. Cytogenetics and Cell Genetics. 1997: 77(1-2); 86.
12. Aktas D, Balcı S, Oruckaptan H, Akalın N, Erbengi A, Söylemez F. Cytogenetic evolution of a meningothelial meningioma with rapid re-growing features. Cytogenetics and Cell Genetics. 1997; 77(1-2): 140 .
13. Aktas D, Balcı S.  A familial translocation involving chromosome 5 and 13.  Medizinische Genetik 1997: 9(2); 63.
14. Tuncbilek E, Alikasifoglu M, Boduroglu K, Aktas D, Anar B. Molecular diagnosis and clinical findings of Turkish patient with Fragile X syndrome. 8th International Workshop on Fragile X syndrome & X-linked Mental Retardation, Ontario, 1998.
15. Alikasifoglu M, Tuncbilek E, Aktas D. Screening for the Fragile X syndrome among mentally retarded males by hair root analysis. 9th International Workshop on Fragile X Syndrome and X linked Mental Retardation, Strasbourg, 23-25 August, 1999.
16. Hicsönmez G, Cetin M, Yenicesu I, Koc A, Tuncer MA, Aktas D, Tuncbilek E. Evaluation of 40 children with myelodysplastic syndrome in Turkey. Leukemia Research 1999, 23 (Suppl 1);53
17. Aktas D, Tekin A, Ozen H, Atsu N, Simsek H, Usal O, Tunçbilek E. Glutathione S-transferase M1 (GSTM1) gene polymorphism in patients with bladder cancer: statistically significant difference between invasive and superficial bladder cancer.  J Urol.  1999; 161: 123.
18. Alikasifoglu M, Tuncbilek E, Aktas D, Duman F, Yanık H, Anar B, Oostra B, Willemsen R. Screening for the Fragile X syndrome among mentally retarded males by hair root analysis. The 7th International Fragile X Conference, USA, Los Angeles, July 19-23, 2000.
19. Balcı S, Altınok D, Kucukali T, Akbıyık F, Aktas D. 5 cases of sirenomelia sequence with radiological, postmortem and prenatal ultrasonographic findings. 11th International Clinical Genetics Seminar, Crete, June 9-14, 2001.
20. Boduroglu K, Aktas D. Prenatal diagnosis of two cases of trisomy 13 with cyclops and holoprosencephaly. Annales de Genetique. 2001; 44 (Supp 1): 149.
21. Aktas D, Hascicek M, Sozen S, Ozen H, Tuncbilek E. CYP1A1 and GSTM1 polymorphic genotypes in benign prostatic hyperplasia and prostate cancer patients. Euro J Hum Genet 2001; 9 (Supp 1): 111.
22. Aktas D, Inci Guney, Mehmet Alikasifoglu, Kunter Yuce, Ergül Tunçbilek. CYP1A1 gene polymorphism and risk of epithelial ovarian neoplasm.  33rd Annual Meeting Society of Gynecologic Oncologists, Miami, March 16-20, 2002.
23. Cagatay Taskıran, Dilek Aktas, Mehmet Alikasifoglu, Nilufer Yigit, Kunter Yuce, Ergul Tuncbilek. CYP1A1 gene polymorphism in preinvasive and invasive cervical cancer in Turkish population. Int J Gynecol Cancer. 2002; 12 (5): 622.
24.  Ibrahim Esinler, Dilek Aktas, Mehmet Alikasifoglu, Kunter Yuce, Ergul Tuncbilek, Ali Ayhan. CYP1A1 polymorphic genotypes in endometrial hyperplasia and endometrial carcinoma patients. Int J Gynecol Cancer. 2002; 12 (5): 646.
25.  Alikasifoglu M, Guney I, Aktas D, Yuce K, Ayhan A, Tuncbilek E. CYP1A1 gene polymorphism and risk of epithelial ovarian neoplasm. Human Genom Meeting.2002, 14-17. P. 398
26. Aktas D, Alikasifoglu M, Taskıran C, Esinler I, Yuce K, Ayhan A, Tuncbilek E. CYP1A1 gene polymorphism and risk of gynaecological neoplasm in Turkish population. Eur J Hum Genet 2003; 11: 1: 61.
27. Aktas D, Alikasifoglu M, Yaralı H, Aksu T, Halıcıgil C, Tuncbilek E. Combined cytogenetic and Y Chromosome microdeletion screening of Turkish males with severe male factor infertility. Annales de Genetique 2003;46: 179.
28. Alanay Y, Aktas D, Talım B, Caglar M, Tuncbilek E. Acrofacial dysostosis-Nager type and alobar holoprosencephaly in a case with a previously undefined chromosomal abnormality. Euro J Hum Genet 2004; 12 (Supp 1): 120.
29. Boduroglu K, Aktas D, Tuncbilek E. Two cases of Cri Du Chat syndrome in the same family without a familial translocation or inversion. Euro J Hum Genet 2004; 12 (Supp 1): 143.
30. Aktas D, Alanay Y, Saygan-Karamursel B, Talım B, Deren O, Caglar M, Tuncbilek E. Partial deletion of the long arm of chromosome 13 in a fetus with Dandy-Walker malformation supporting previous observations of a candidate gene loci. Euro J Hum Genet 2004; 12 (Supp 1): 129.
31.   Aktas D, Akan O, Ozates M, Akarsu M, Zankl A, Superti-Furga A, Tuncbilek E. Severe and progressive osteolysis of the toes, feet and legs (“acrotarsotibial osteolysis”). A novel disorder or a variant of Torg syndrome. Am J Hum Genet 2004, Oct 26-30. P 635

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