Prof. Dr. ERGÜL TUNÇBİLEK

Makaleler 39

1. Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry

ÜTİNE G. E., Simsek-Kiper P. O., Akgun-Dogan O., Urel-Demir G., Alanay Y., AKTAŞ D., et al.

European Journal of Obstetrics and Gynecology and Reproductive Biology , cilt.221, ss.76-80, 2018 (SCI-Expanded, Scopus)

2. Gorlin Syndrome in Eleven Patients

ÜTİNE G. E., ALANAY Y., Aktas D., BODUROĞLU O. K., ALİKAŞİFOĞLU M., TUNÇBİLEK E.

JOURNAL OF PEDIATRIC RESEARCH , cilt.4, sa.2, ss.63-67, 2017 (ESCI, TRDizin)

3. Methylene tetrahydrofolate reductase polymorphisms and homocysteine level in heart defects

ŞAHİNER Ü. M., ALANAY Y., ALEHAN D., TUNÇBİLEK E., ALİKAŞİFOĞLU M.

PEDIATRICS INTERNATIONAL , cilt.56, sa.2, ss.167-172, 2014 (SCI-Expanded, Scopus)

4. PARENTAL FACTORS IN PRENATAL DECISION MAKING AND THE IMPACT OF PRENATAL GENETIC COUNSELING: A STUDY ON TURKISH FAMILIES

Simsek-Kiper P. O., ÜTİNE G. E., Volkan-Salanci B., Alanay Y., Aktas D., ALİKAŞİFOĞLU M., et al.

GENETIC COUNSELING , cilt.25, sa.1, ss.53-62, 2014 (SCI-Expanded, Scopus)

5. OPINIONS OF TURKISH PHYSICIANS TOWARDS TERMINATION OF PREGNANCY FOR FETAL DISORDERS

Utine G. E., Kiper P. O., Salanci B. V., ALANAY Y., Aktas D., Alikasifoglu M., et al.

GENETIC COUNSELING , cilt.22, sa.4, ss.401-409, 2011 (SCI-Expanded, Scopus)

6. Identification of point mutations and large rearrangements in the BRCA1 gene in 667 Turkish unselected ovarian cancer patients

Aktas D., GÜLTEKİN M., Kabacam S., Alikasifoglu M., Turan A. T., Tulunay G., et al.

GYNECOLOGIC ONCOLOGY , cilt.119, sa.1, ss.131-135, 2010 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

7. Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

Alanay Y., Avaygan H., Camacho N., ÜTİNE G. E., Boduroglu K., Aktas D., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.86, sa.4, ss.551-559, 2010 (SCI-Expanded, Scopus)

8. Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report

Aktas D., Weise A., Utine E., ALEHAN D., Mrasek K., von Eggeling F., et al.

MOLECULAR CYTOGENETICS , cilt.2, 2009 (SCI-Expanded, Scopus)

9. Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH

Utine E. G., ALANAY Y., Aktas D., ALİKAŞİFOĞLU M., BODUROĞLU O. K., Vermeesch J., et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.51, sa.4, ss.343-350, 2008 (SCI-Expanded, Scopus)

10. Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia

Tekin M., Akay H. O., Fitoz S., Birnbaum S., Cengiz F. B., Sennaroglu L., et al.

CLINICAL GENETICS , cilt.73, sa.6, ss.554-565, 2008 (SCI-Expanded, Scopus)

11. EVALUATION OF PARAOXONASE-1 GENE POLYMORPHISM AND SERUM PARAOXONASE ACTIVITY AS A CARDIOVASCULAR RISK

Bayrak T., Deniz A., Tokgozoglu L., Yavuz B., Demirpence E., Bayrak A., et al.

ATHEROSCLEROSIS SUPPLEMENTS , cilt.9, sa.1, ss.106, 2008 (SCI-Expanded, Scopus)

12. CYP1A1 gene polymorphism and polycystic ovary syndrome

ESİNLER İ., Aktas D., Otegen U., ALİKAŞİFOĞLU M., Yarali H., TUNÇBİLEK E.

REPRODUCTIVE BIOMEDICINE ONLINE , cilt.16, sa.3, ss.356-360, 2008 (SCI-Expanded, Scopus)

13. KABUKI SYNDROME AND TRISOMY 10p

Utine G. E., ALANAY Y., Aktas D., BODUROĞLU O. K., Alikasifoglu M., Tuncbilek E.

GENETIC COUNSELING , cilt.19, sa.3, ss.291-300, 2008 (SCI-Expanded, Scopus)

14. Factor V Leiden mutation and type 1 diabetes mellitus

Demirer A. N., ALİKAŞİFOĞLU M., TUNÇBİLEK E., Karakus S., Erbas T.

BLOOD COAGULATION & FIBRINOLYSIS , cilt.19, sa.1, ss.70-74, 2008 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

15. Distal partial trisomy 1q: report of two cases and a review of the literature

Utine G. E., Aktas D., ALANAY Y., Guecer S., Tuncbilek E., Mrasek K., et al.

PRENATAL DIAGNOSIS , cilt.27, sa.9, ss.865-871, 2007 (SCI-Expanded, Scopus)

16. Cavernous malformation with Poland-Möbius syndrome: Case illustration

Mut M., Palaoglu S., Alanay Y., İSMAİLOĞLU Ö., Tuncbilek E.

Journal of Neurosurgery , cilt.107, ss.79, 2007 (SCI-Expanded, Scopus)

17. A multidisciplinary approach to the management of individuals with fragile X syndrome

ALANAY Y., Unal F., Turanli G., Alikasifoglu M., Alehan D., Akyol U., et al.

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH , cilt.51, ss.151-161, 2007 (SCI-Expanded, SSCI, Scopus)

18. Coexistent mosaic monosomy 21 and fragile X syndrome in a mentally retarded male patient

Utine G. E., Aktas D., BODUROĞLU O. K., Alikasifoglu M., Tuncbilek E.

GENETIC COUNSELING , cilt.18, sa.2, ss.171-177, 2007 (SCI-Expanded, Scopus)

19. Myelodysplastic syndrome associated with monosomy 7 in childhood: a retrospective study

Aktas D., Tuncbilek E.

CANCER GENETICS AND CYTOGENETICS , cilt.171, sa.1, ss.72-75, 2006 (SCI-Expanded, Scopus)

20. Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome

ALANAY Y., Utine G. E., Lachman R. S., Krakow D., Tuncbilek E.

PEDIATRIC RADIOLOGY , cilt.36, sa.9, ss.970-973, 2006 (SCI-Expanded, Scopus)

21. CYP1A1 gene polymorphism and risk of endometrial hyperplasia and endometrial carcinoma

ESİNLER İ., Aktas D., Alikasifoglu M., Tuncbilek E., Ayhan A.

INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER , cilt.16, sa.3, ss.1407-1411, 2006 (SCI-Expanded, Scopus)

22. Spondylo-ocular syndrome: A new entity involving the eye and spine

ALANAY Y., Superti-Furga A., Karel F., Tuncbilek E.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , sa.6, ss.652-656, 2006 (SCI-Expanded, Scopus)

23. Isodicentric Y (p11.32) chromosome in an infant with mixed gonadal dysgenesis

Aktas D., Alikasifoglu M., Gonc N., Senocak M., Tuncbilek E.

EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.49, sa.2, ss.141-149, 2006 (SCI-Expanded, Scopus)

24. Central precocious puberty in a girl with Williams syndrome: the result of treatment with GnRH analogue

Utine G., Alikasifoglu A., Alikasifoglu M., Tuncbilek E.

EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.49, sa.1, ss.79-82, 2006 (SCI-Expanded, Scopus)

25. Analysis of MTHFR 1298A > C in addition to MTHFR 677C > T polymorphism as a risk factor for neural tube defects in the Turkish population

BODUROĞLU O. K., ALANAY Y., Alikasifoglu M., Aktas D., Tuncbilek E.

TURKISH JOURNAL OF PEDIATRICS , cilt.47, sa.4, ss.327-333, 2005 (SCI-Expanded, Scopus)

26. Is Dandy-Walker malformation associated with "distal 13q deletion syndrome"? Findings in a fetus supporting previous observations

ALANAY Y., Aktas D., Utine E., Talim B., Onderoglu L., Caglar M., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , sa.3, ss.265-268, 2005 (SCI-Expanded, Scopus)

27. Thermolabile methylenetetrahydrofolate reductase enzyme genotype is frequent in type 2 diabetic patients with normal fasting homocysteine levels

Tutuncu N., Erbas T., Alikasifoglu M., Tuncbilek E.

JOURNAL OF INTERNAL MEDICINE , cilt.257, sa.5, ss.446-453, 2005 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

28. Ipsilateral foot and controlateral hand anomalies in a patient with Poland-Moebius syndrome

Cetin I., Aktas D., Tuncbilek E.

EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.48, sa.2, ss.183-187, 2005 (SCI-Expanded, Scopus)

29. Celiac disease screening in 100 Turkish children with Down syndrome

ALANAY Y., BODUROĞLU O. K., Tuncbilek E.

TURKISH JOURNAL OF PEDIATRICS , cilt.47, sa.2, ss.138-140, 2005 (SCI-Expanded, Scopus)

30. Isodicentric V (p11.32) chromosome in an infant with mixed gonadal dysgenesis

Aktas D., Alkasifoglu M., Gonc N., Senocak M. E., Tuncbilek E.

CHROMOSOME RESEARCH , cilt.13, ss.49, 2005 (SCI-Expanded, Scopus)

31. Down syndrome with concomitant familial balanced translocation t(17;20) (q25;q12)

Alikasifoglu M., Aktas D., Tuncbilek E.

CHROMOSOME RESEARCH , cilt.13, ss.40, 2005 (SCI-Expanded, Scopus)

32. CYP1A1 and GSTM1 polymorphic genotypes in patients with prostate cancer in a Turkish population

Aktas D., Hascicek M., Sozen S., Ozen H., Tuncbilek E.

CANCER GENETICS AND CYTOGENETICS , cilt.154, sa.1, ss.81-85, 2004 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

33. Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women

BODUROĞLU O. K., ALANAY Y., Koldan B., Tuncbilek E.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , sa.1, ss.5-10, 2004 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

34. Acute lymphoblastic leukemia in infants

Gurgey A., Yetgin S., Cetin M., Gumruk F., Tuncer A., Tuncbilek E., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.46, sa.2, ss.115-119, 2004 (SCI-Expanded, Scopus)

35. Prenatal diagnosis of laryngeal atresia

Onderoglu L., Karamursel B., Bulun A., Kale G., Tuncbilek E.

PRENATAL DIAGNOSIS , cilt.23, sa.4, ss.277-280, 2003 (SCI-Expanded, Scopus)

36. Angiotensin-converting enzyme genotype predicts valve damage in acute rheumatic fever

Atalar E., Tokgozoglu S., Alikasifoglu M., Ovunc K., Aksoyek S., Kes S., et al.

JOURNAL OF HEART VALVE DISEASE , cilt.12, sa.1, ss.7-10, 2003 (SCI-Expanded, Scopus)

37. CYP1A1 gene polymorphism and risk of epithelial ovarian neoplasm

Aktas D., Guney I., Alikasifoglu M., Yuce K., Tuncbilek E., Ayhan A.

GYNECOLOGIC ONCOLOGY , cilt.86, sa.2, ss.124-128, 2002 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

38. Anaemia and thrombocytopenia due to haemophagocytosis in a 7-month-old boy with galactosialidosis

Olcay L., GÜMRÜK F., Boduroǧlu K., Coşkun T., TUNÇBİLEK E.

Journal of Inherited Metabolic Disease , cilt.21, sa.6, ss.679-680, 1998 (SCI-Expanded, Scopus)

39. CONSANGUINEOUS MARRIAGE IN TURKEY AND ITS IMPACT ON FERTILITY AND MORTALITY

TUNCBILEK E., KOC I.

ANNALS OF HUMAN GENETICS , cilt.58, ss.321-329, 1994 (SCI-Expanded, Scopus)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 6

1. Partial monosomy of distal 6q

Utine E., ALANAY Y., Aktas D., Boduroglu K., Alikasifoglu A., Tuncbilek E.

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.70, (Özet Bildiri)

2. Two patients with distal partial trisomy 1q

Aktas D., Utine E., ALANAY Y., Gucer S., Tuncbilek E., Mrasek K., et al.

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.70-71, (Özet Bildiri)

3. Clinical evaluation of Prader-Willi and Angelman syndrome patients with 15q11-13 deletion

Kurtul K., Boduroglu K., ALANAY Y., Utine E., Salanci B. V., Aktas D., et al.

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.96, (Özet Bildiri)

4. The detection of subtelomeric chromosomal rearrangements in 100 patients with idiopathic mental retardation: Hacettepe University Experience

Celik T., Utine E., ALANAY Y., Aktas D., Boduroglu K., Alikasifoglu M., et al.

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.70, (Özet Bildiri)

5. Unilateral peters' anomaly type I in an infant with 22q11.2 deletion syndrome

Erdogan K. M., Utine G. E., ALANAY Y., Volkan-Salanci B., Boduroglu K., Aktas D., et al.

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.100, (Özet Bildiri)

6. Bloom syndrome in a child with severe short stature and wilms tumor

Boduroglu K., ALANAY Y., Alikasifoglu M., Aktas D., Utine G. E., Tuncbilek E.

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.142-143, (Özet Bildiri)

Metrikler

Yayın

Yayın (WoS)

Yayın (Scopus)

Atıf (WoS)

701

H-İndeks (WoS)

Atıf (Scopus)

453

H-İndeks (Scopus)

Açık Erişim

BM Sürdürülebilir Kalkınma Amaçları

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