Metrikler
Yayın
45
Açık Erişim
3
BM Sürdürülebilir Kalkınma Amaçları
Makaleler
Tümü (39)
SCI-E, SSCI, AHCI (38)
SCI-E, SSCI, AHCI, ESCI (39)
ESCI (1)
Scopus (38)
TRDizin (1)
2018
20181. 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)
2017
20172. 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)
2014
20143. 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)
2014
20144. 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)
2011
20115. 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)
2010
20106. 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)
2010
20107. 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)
2009
20098. 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)
2008
20089. 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)
2008
200810. 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)
2008
200811. 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)
2008
200812. 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)
2008
200813. 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)
2008
200814. 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)
2007
200715. 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)
2007
200716. 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)
2007
200717. 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)
2007
200718. 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)
2006
200619. 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)
2006
200620. 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)
2006
200621. 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)
2006
200622. 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)
2006
200623. 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)
2006
200624. 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)
2005
200525. 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)
2005
200526. 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)
2005
200527. 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)
2005
200528. 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)
2005
200529. 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)
2005
200530. 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)
2005
200531. 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)
2004
200432. 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)
2004
200433. 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)
2004
200434. 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)
2003
200335. 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)
2003
200336. 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)
2002
200237. 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)
1998
199838. 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)
1994
199439. 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
2007
20071. 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)
2007
20072. 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)
2007
20073. 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)
2007
20074. 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)
2007
20075. 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)
2007
20076. 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)