Prof.

OSMAN KORAY BODUROĞLU


Tıp Fakültesi (Türkçe)

Dahili Tıp Bilimleri Bölümü

Çocuk Sağlığı ve Hastalıkları A.B.D. (Türkçe)

Education Information

2008 - 2013

2008 - 2013

Post Doctorate of Medicine

Hacettepe University, Tıp Fakültesi (İngilizce), Dahili Tıp Bilimleri Bölümü, Turkey

1998 - 2002

1998 - 2002

Doctorate

Hacettepe Üniversitesi, Sağlık Bilimleri Enstitüsü, Genetik, Turkey

1988 - 1993

1988 - 1993

Expertise In Medicine

Hacettepe Üniversitesi, Tıp Fakültesi, Pediatri, Turkey

1982 - 1988

1982 - 1988

Undergraduate

Hacettepe Üniversitesi, Tıp Fakültesi, Turkey

Dissertations

2002

2002

Doctorate

Nöral tüp defektlerinin etiyolojisinde 5, 10 metilentetrahidrofolat redüktaz gen polimorfizmlerinin rolü

Hacettepe Üniversitesi, Sağlık Bilimleri Fakültesi

Foreign Languages

C1 Advanced

C1 Advanced

English

Research Areas

Medicine, Health Sciences, Internal Medicine Sciences, Child Health and Diseases, Medical Genetics

Academic Titles / Tasks

1995 - Continues

1995 - Continues

Professor

Hacettepe Üniversitesi, Tıp Fakültesi (ingilizce), Dahili Tıp Bilimleri Bölümü

Articles Published in Journals That Entered SCI, SSCI and AHCI Indexes

2020

2020

Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.

Guleray N. , Kosukcu C. , Taskiran Z., Simsek K., Utine G., Gucer S., et al.

Fetal and pediatric pathology, vol.39, no.2, pp.163-171, 2020 (Journal Indexed in SCI Expanded) identifier identifier identifier

2019

2019

Chromosome Analysis in the Assessment for Gender Affirmation Process: A Retrospective Study

Bagcaz A., BODUROĞLU O. K. , BAŞAR K.

TURK PSIKIYATRI DERGISI, vol.30, no.3, pp.157-162, 2019 (Journal Indexed in SSCI) identifier identifier identifier

2019

2019

An eight-case 1q21 region series: novel aberrations and clinical variability with new features

CEYLAN A., ŞAHİN İ. F. , Erdem H., Kayhan G., Simsek-Kiper P., ÜTİNE G. E. , et al.

Journal of Intellectual Disability Research, vol.63, no.6, pp.548-557, 2019 (Journal Indexed in SSCI) identifier identifier identifier

2018

2018

Non-immune hydrops fetalis: A retrospective analysis of 151 autopsies performed at a single center

KAYKI G. , Gucer S., AKÇÖREN Z. , ORHAN D. , TALİM B. , YURDAKÖK M. , et al.

TURKISH JOURNAL OF PEDIATRICS, vol.60, no.5, pp.471-477, 2018 (Journal Indexed in SCI) identifier identifier identifier

2018

2018

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, vol.221, pp.76-80, 2018 (Journal Indexed in SCI Expanded) identifier identifier identifier

2018

2018

Anauxetic dysplasia: A rare clinical entity

Akgün-Doğan Ö. , Şimsek-Kiper P. Ö. , ÜTİNE G. E. , Boduroğlu K.

Turkish Journal of Pediatrics, vol.60, no.1, pp.89-93, 2018 (Journal Indexed in SCI) identifier identifier identifier

2018

2018

Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome

Bilgin B., Kabaçam S., Taşkıran E., Şimşek-Kiper P. Ö. , Alanay Y. , Boduroğlu K. , et al.

Turkish Journal of Pediatrics, vol.60, no.5, pp.506-513, 2018 (Journal Indexed in SCI) identifier identifier identifier

2018

2018

Clinical and molecular evaluation of 16 patients with rett syndrome

Zengin-Akkuş P. , Taşkıran E. Z. , Kabaçam S., Şimşek-Kiper P. Ö. , Haliloğlu G., Boduroğlu K. , et al.

Turkish Journal of Pediatrics, vol.60, no.1, pp.1-9, 2018 (Journal Indexed in SCI Expanded) identifier identifier

2018

2018

A Rare Cause of Hyperinsulinemic Hypoglycemia: Costello Syndrome

VURALLI KARAOĞLAN D. , KOŞUKCU C. , Taskiran E. , Simsek P. O. , ÜTİNE G. E. , BODUROĞLU O. K. , et al.

HORMONE RESEARCH IN PAEDIATRICS, vol.90, pp.363, 2018 (Journal Indexed in SCI) identifier

2017

2017

Coexistence of Trisomy 13 and SRY (−) XX Ovotesticular Disorder of Sex Development

Demir G. U. , Dogan O. A. , Kiper P. O. S. , ÜTİNE G. E. , Boduroglu K. , Gucer S., et al.

Fetal and Pediatric Pathology, vol.36, no.6, pp.445-451, 2017 (Journal Indexed in SCI Expanded) identifier identifier identifier

2017

2017

HERC1 mutations in idiopathic intellectual disability

ÜTİNE G. E. , Taskiran E. Z. , KOŞUKCU C. , KARAOSMANOĞLU B. , GÜLERAY N. , Dogan O. A. , et al.

European Journal of Medical Genetics, vol.60, no.5, pp.279-283, 2017 (Journal Indexed in SCI Expanded) identifier identifier identifier

2016

2016

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

Angius A., Uva P., Buers I., Oppo M., Puddu A., Onano S., et al.

American Journal of Human Genetics, vol.99, no.1, pp.236-245, 2016 (Journal Indexed in SCI) identifier identifier identifier

2016

2016

Cortical-bone fragility - Insights from sFRP4 deficiency in Pyle's disease

Kiper P. Ö. , Saito H., Gori F., Unger S., Hesse E., Yamana K., et al.

New England Journal of Medicine, vol.374, no.26, pp.2553-2562, 2016 (Journal Indexed in SCI Expanded) identifier identifier identifier

2016

2016

A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome

Kılıç E. , Cetinkaya A. , Ütine G. E. , Boduroǧlu K.

Journal of Child Neurology, vol.31, no.7, pp.913-917, 2016 (Journal Indexed in SCI) Creative Commons License identifier identifier identifier

2015

2015

Experience of a skeletal dysplasia registry in Turkey: A five-years retrospective analysis

Kurt-Sukur E. D. , Simsek-Kiper P. O. , ÜTİNE G. E. , Boduroglu K. , Alanay Y.

American Journal of Medical Genetics, Part A, vol.167, no.9, pp.2065-2074, 2015 (Journal Indexed in SCI Expanded) identifier identifier identifier

2015

2015

A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I

Kılıç E. , Yigit G., ÜTİNE G. E. , Wollnik B., MIHÇI E., Nur B. G. , et al.

American Journal of Medical Genetics, Part A, vol.167, no.4, pp.919-921, 2015 (Journal Indexed in SCI Expanded) identifier identifier identifier

2015

2015

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

Bögershausen N., Tsai I., Pohl E., Kiper P. O. S. , Beleggia F., Ferda Percin E., et al.

Journal of Clinical Investigation, vol.125, no.9, pp.3585-3599, 2015 (Journal Indexed in SCI) identifier identifier identifier

2014

2014

Jervell and Lange-Nielsen syndrome with homozygous missense mutation of the KCNQ1 gene

KILIÇ E. , ERTUĞRUL İ. , Ozer S., ALİKAŞİFOĞLU M. , Aktas D., Boduroglu K. , et al.

TURKISH JOURNAL OF PEDIATRICS, vol.56, no.5, pp.542-545, 2014 (Journal Indexed in SCI) identifier identifier identifier

2014

2014

Etiological yield of SNP microarrays in idiopathic intellectual disability

Ütine G. E. , Halıloglu G., Volkan-Salancı B. , Cetinkaya A. , Kıper P. O. , Alanay Y. , et al.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, vol.18, no.3, pp.327-337, 2014 (Journal Indexed in SCI) Creative Commons License identifier identifier identifier

2014

2014

Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome

Piras R., Chiappe F., La Torraca I., Buers I., Usala G., Angius A., et al.

HUMAN MUTATION, vol.35, no.4, pp.424-433, 2014 (Journal Indexed in SCI) identifier identifier identifier

2014

2014

Celiac disease in Williams-Beuren syndrome

Simsek-Kiper P. O. , Sahin Y. , Arslan U., Alanay Y. , Boduroglu K. , ORHAN D. , et al.

TURKISH JOURNAL OF PEDIATRICS, vol.56, no.2, pp.154-159, 2014 (Journal Indexed in SCI) identifier identifier identifier

2014

2014

TMCO1 Deficiency Causes Autosomal Recessive Cerebrofaciothoracic Dysplasia

ALANAY Y., BEKİR E., ÜTİNE G. E. , ORÇUN H., ŞİMŞEK KİPER P. Ö. , TAŞKIRAN E. Z. , et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.164, no.2, pp.291-304, 2014 (Journal Indexed in SCI) identifier identifier identifier

2014

2014

Barraquer-Simons syndrome: A rare clinical entity

Simsek-Kiper P. O. , Roach E., ÜTİNE G. E. , Boduroglu K.

American Journal of Medical Genetics, Part A, vol.164, no.7, pp.1756-1760, 2014 (Journal Indexed in SCI Expanded) identifier identifier identifier

2014

2014

Vesiculopustular eruption in neonatal transient myeloproliferative disorder

Nar I., Surmeli-Onay O., Aytac Ş. S. , TALİM B. , Kiper P. O. , Boduroglu K. , et al.

Indian Journal of Pediatrics, vol.81, no.4, pp.391-393, 2014 (Journal Indexed in SCI Expanded) identifier identifier identifier

2014

2014

Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: A single case observation

Simsek-Kiper P. O. , Dikoglu E., Campos-Xavier B., ÜTİNE G. E. , Bonafe L., Unger S., et al.

American Journal of Medical Genetics, Part A, vol.164, no.10, pp.2667-2671, 2014 (Journal Indexed in SCI Expanded) identifier identifier identifier

2013

2013

A Case of 13q22. 2 q33. 3 Deletion

KILIÇ E. , ÜTİNE G. E. , Alikagsifoglu M., BODUROĞLU O. K.

CHROMOSOME RESEARCH, vol.21, 2013 (Journal Indexed in SCI) identifier

2013

2013

A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings

KILIÇ E. , ÜTİNE G. E. , Boduroglu K.

TURKISH JOURNAL OF PEDIATRICS, vol.55, no.2, pp.207-209, 2013 (Journal Indexed in SCI) identifier identifier identifier

2012

2012

PRRX1 is mutated in an otocephalic newborn infant conceived by consanguineous parents

Celik T., Simsek P. O. , Sozen T., Ozyuncu O., Utine G. E. , Talim B., et al.

CLINICAL GENETICS, vol.81, no.3, pp.294-297, 2012 (Journal Indexed in SCI) identifier identifier identifier

2011

2011

A mutation screen in patients with Kabuki syndrome

Li Y., Boegershausen N., ALANAY Y., ŞİMŞEK KİPER P. Ö. , Plume N., Keupp K., et al.

HUMAN GENETICS, vol.130, no.6, pp.715-724, 2011 (Journal Indexed in SCI) identifier identifier identifier

2011

2011

Catel-Manzke Syndrome: A Clinical Report Suggesting Autosomal Recessive Inheritance

ŞİMŞEK KİPER P. Ö. , ÜTİNE G. E. , BODUROĞLU O. K. , ALANAY Y.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no.9, pp.2288-2292, 2011 (Journal Indexed in SCI) identifier identifier identifier

2009

2009

Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes

Simsek P. O. , ÜTİNE G. E. , ALİKAŞİFOĞLU A. , ALANAY Y., BODUROĞLU O. K. , Kandemir N.

TURKISH JOURNAL OF PEDIATRICS, vol.51, no.3, pp.294-297, 2009 (Journal Indexed in SCI) identifier identifier identifier

2008

2008

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, vol.51, no.4, pp.343-350, 2008 (Journal Indexed in SCI) identifier identifier identifier

2008

2008

KABUKI SYNDROME AND TRISOMY 10p

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

GENETIC COUNSELING, vol.19, no.3, pp.291-300, 2008 (Journal Indexed in SCI) identifier identifier identifier

2007

2007

Cerebro-facio-thoracic dysplasia: expanding the phenotype

Cilliers D., ALANAY Y., BODUROĞLU O. K. , Utine E. , Tuncbilek E., Clayton-Smith J.

CLINICAL DYSMORPHOLOGY, vol.16, no.2, pp.121-125, 2007 (Journal Indexed in SCI) identifier identifier identifier

2007

2007

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, vol.51, pp.151-161, 2007 (Journal Indexed in SCI) identifier identifier identifier

2007

2007

Neocentric small supernumerary marker chromosomes (sSMC) - three more cases and review of the literature

Liehr T., Utine G. E. , Trautmann U., Rauch A., Kuechler A., Pietracz J., et al.

CYTOGENETIC AND GENOME RESEARCH, vol.118, no.1, pp.31-37, 2007 (Journal Indexed in SCI) identifier identifier identifier

2005

2005

Celiac disease screening in 100 Turkish children with Down syndrome

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

TURKISH JOURNAL OF PEDIATRICS, vol.47, no.2, pp.138-140, 2005 (Journal Indexed in SCI) identifier identifier identifier

2005

2005

A case of ring chromosome 18 with mild phenotypic features

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

CHROMOSOME RESEARCH, vol.13, pp.66, 2005 (Journal Indexed in SCI) identifier

2004

2004

Oculo-palato-cerebral syndrome: A third case supporting autosomal recessive inheritance

ALANAY Y., BODUROĞLU O. K. , Sonmez B., Orhan M.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no.1, pp.92-95, 2004 (Journal Indexed in SCI) identifier identifier identifier

2002

2002

Cervical diastematomyelia in cervico-oculo-acoustic (Wildervanck) syndrome: MRI findings

Balci S., Oguz K., Firat M., BODUROĞLU O. K.

CLINICAL DYSMORPHOLOGY, vol.11, no.2, pp.125-128, 2002 (Journal Indexed in SCI) identifier identifier identifier

Articles Published in Other Journals

2020

2020

Achondroplasiaand Down SyndromeIn An Infant: A RareCo-Occurrence

ÜREL DEMİR G. , ŞİMŞEK KİPER P. Ö. , GÖÇMEN R. , ÜTİNE G. E. , BODUROĞLU O. K.

Asia Pacific Journal of Pediatric and Child Health, 2020 (Refereed Journals of Other Institutions)

2019

2019

Akondroplazide baba yaşı: İleri baba yaşı kaçtır?

ATAR S. , ÜREL DEMİR G. , ŞİMŞEK KİPER P. Ö. , ÜTİNE G. E. , BODUROĞLU O. K.

Çocuk Sağlığı ve Hastalıkları, vol.62, no.62, pp.7-9, 2019 (National Non-Refereed Journal) identifier

2017

2017

3M Sendromu

ŞİMŞEK KİPER P. Ö. , ÜTİNE G. E. , BODUROĞLU O. K.

Çocuk Sağlığı ve Hastalıkları Dergisi, 2017 (Other Refereed National Journals)

2017

2017

Gorlin Syndrome in Eleven Patients

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

JOURNAL OF PEDIATRIC RESEARCH, vol.4, no.2, pp.63-67, 2017 (Journal Indexed in ESCI) identifier

2017

2017

3M syndrome 3M sendromu

Kiper P. Ö. Ş. , ÜTİNE G. E. , Boduroǧlu K.

Cocuk Sagligi ve Hastaliklari Dergisi, vol.60, no.2, pp.56-63, 2017 (Refereed Journals of Other Institutions) identifier

2016

2016

An Adult Patient with Monosomy 18p Growth Hormone Deficiency and Selective IgA Deficiency

ZENGİN AKKUŞ P. , çetinkaya a., ÇAĞDAŞ AYVAZ D. N. , ALİKAŞİFOĞLU M. , ALİKAŞİFOĞLU A. , KANDEMİR N. , et al.

Journal of Genetic Syndromes & Gene Therapy, vol.7, no.2, 2016 (Refereed Journals of Other Institutions)

2014

2014

1p36 Microdeletion Syndrome: A Case Report

ZENGİN AKKUŞ P. , ŞAHİN Y., UTİNE G. E. , BODUROĞLU O. K.

Acta Medica, vol.45, no.1, pp.26-28, 2014 (Other Refereed National Journals)

Refereed Congress / Symposium Publications in Proceedings

2019

2019

Çocuklarda romatizmal bulgularla gelen genetik hastalıklar

KAYA AKCA Ü. , Bilginer Y., Özen S., Sag E., UTİNE G. E. , BODUROĞLU O. K. , et al.

20. ULUSAL ROMATOLOJİ KONGRESİ, Turkey, 16 - 20 October 2019

2019

2019

The Skeletal Dysplasia Registry: Hacettepe Experience

ŞİMŞEK KİPER P. Ö. , TAŞKIRAN Z. E. , KOŞUKCU C. , ARSLAN U. E. , ÜTİNE G. E. , ALANAY Y., et al.

The 14th biannual International Skeletal Dysplasia Society Meeting, Oslo, Norway, 11 - 14 September 2019

2018

2018

Expanding the clinical and mutational spectrum of Roberts Syndrome with previously unreported endocrine findings

Guleray N., Kiper P. O. S. , Utine G. E. , BODUROĞLU O. K. , Alikasifoglu M.

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, 16 - 19 June 2018, vol.27, pp.127 identifier

2018

2018

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome in a large family: A clinical condition with a diagnostic challange

Oguz S., Kiper P. O. S. , Utine G. E. , ALANAY Y., Ozen S., BODUROĞLU O. K. , et al.

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, 16 - 19 June 2018, vol.27, pp.97 identifier

2018

2018

Clinical, demographic and nosologic characterisation of the genetic disorders of the skeleton in Turkey: The skeletal dysplasia registry

Simsek-Kiper P. O. , Utine G. E. , Taskiran E. Z. , Kosukcu C., Arslan U., ALANAY Y., et al.

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, 16 - 19 June 2018, vol.27, pp.130 identifier

2017

2017

17q24.3 Duplication In A Patient Presenting With SRY-Negative 46,XX Disorders of Sex Development

Kiper P. O. S. , Ozon A., Gonc N., Alikasifoglu A., Utine G. E. , BODUROĞLU O. K. , et al.

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.196 identifier

2017

2017

A novel homozygous ROGD1 mutation in two siblings with kohlschutter-tonz syndrome: a rare entity

Kiper P. O. S. , Utine G. E. , Zschocke J., BODUROĞLU O. K.

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.346 identifier

2018

2018

A Rare Cause of Hyperinsulinemic Hypoglycemia: Costello Syndrome

VURALLI KARAOĞLAN D. , KOŞUKCU C. , TAŞKIRAN Z. E. , ŞİMŞEK KİPER P. Ö. , UTİNE G. E. , BODUROĞLU O. K. , et al.

57th Annual ESPE European Society for Paediatric Endocrinology, Atina, Greece, 27 - 29 September 2018, vol.90, pp.351-352

2017

2017

Oftalmo-akromelik sendrom

ÜREL DEMİR G. , TAŞKIRAN Z. E. , AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö. , ÜTİNE G. E. , BODUROĞLU O. K.

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

2017

2017

Juvenil Paget Hastalığı

OĞUZ S. , ÜREL DEMİR G. , AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö. , ÜTİNE G. E. , ALİKAŞİFOĞLU M. , et al.

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

2017

2017

KID Sendromu: Nadir bir klinik antite

AKGÜN DOĞAN Ö., OĞUZ S. , MENTEŞOĞLU D. , ÜREL DEMİR G. , ŞİMŞEK KİPER P. Ö. , ÜTİNE G. E. , et al.

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

2017

2017

Oküloaurikülovertebral spektrumda 5p delesyonu

ÜREL DEMİR G. , OĞUZ S. , GÜLERAY N. , AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö. , ÜTİNE G. E. , et al.

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

2017

2017

Peters Plus Sendromu

ÜREL DEMİR G. , AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö. , ÜTİNE G. E. , BODUROĞLU O. K.

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

2017

2017

Woodhouse-Sakati sendromunda iki yeni mutasyon

OĞUZ S. , AKGÜN DOĞAN Ö., ÜREL DEMİR G. , ŞİMŞEK KİPER P. Ö. , ÜTİNE G. E. , BODUROĞLU O. K. , et al.

3.Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

2017

2017

6p25.3 delesyonu

AKGÜN DOĞAN Ö., ÜREL DEMİR G. , GÜLERAY N. , ŞİMŞEK KİPER P. Ö. , ÜTİNE G. E. , KUTLUK M. T. , et al.

3.Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

2017

2017

Teebi hipertelorizm sendromu

ÜREL DEMİR G. , AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö. , ÜTİNE G. E. , BODUROĞLU O. K.

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

2017

2017

Tüberoskleroz hemihiperplazi birlikteliği

AKGÜN DOĞAN Ö., ÜREL DEMİR G. , ŞİMŞEK KİPER P. Ö. , ÜTİNE G. E. , BODUROĞLU O. K.

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

2017

2017

Camurati-Engelmann hastalığı

OĞUZ S. , ÜREL DEMİR G. , ŞİMŞEK KİPER P. Ö. , ÜTİNE G. E. , ALİKAŞİFOĞLU M. , BODUROĞLU O. K.

3.Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

2017

2017

Cinsiyetinden hoşnutsuzluk ve 46,XX gonadal disgenezi birlikteliği

KAMIŞ G. Z. , BODUROĞLU O. K. , BAYRAKTAR M. , BAŞAR K.

21. TPD Yıllık Toplantı ve Klinik Eğitim Sempozyumu, Turkey, 19 - 22 April 2017, vol.28, pp.72-73

2015

2015

Nadir görülen bir iskelet displazisi Stüve Wiedemann sendromu

AKGÜN DOĞAN Ö. , ŞİMŞEK KİPER P. Ö. , ÜTİNE G. E. , BODUROĞLU O. K.

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Sempozyum Kitabı Sayfa 72., Turkey, 22 - 24 October 2015

2015

2015

Erişkin dönemde tanı alan Williams sendromu vakası

AKGÜN DOĞAN Ö. , ŞİMŞEK KİPER P. Ö. , ÜTİNE G. E. , ALİKAŞİFOĞLU M. , BODUROĞLU O. K.

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Turkey, 22 - 24 October 2015

2015

2015

WAGR Sendromu Aniriden daha fazlası

PINAR Z. A. , AKGÜN DOĞAN Ö. , TAYLAN ŞEKEROĞLU H. , ŞİMŞEK KİPER P. Ö. , ÜTİNE G. E. , BODUROĞLU O. K.

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Turkey, 22 - 24 October 2015

2015

2015

Hennekam sendromu Otozomal resesif geçişli bir konjenital lenfödem

GÜLERAY N. , ÖZER M., AKGÜN DOĞAN Ö. , ŞİMŞEK KİPER P. Ö. , ÜTİNE G. E. , BODUROĞLU O. K.

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Turkey, 22 - 24 October 2015

2015

2015

3M Sendromlu Bir Grup Hastada Klinik Ve Moleküler Bulguların Analizi

ŞİMŞEK KİPER P. Ö. , EKİM ZİHNİ T., ÜTİNE G. E. , ALİKAŞİFOĞLU A. , KANDEMİR N. , VALERİE C. D. , et al.

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Turkey, 22 - 24 October 2015

2015

2015

Bir vaka nedeniyle Goltz sendromu

TAŞTEMEL T. , AKGÜN DOĞAN Ö. , ŞİMŞEK KİPER P. Ö. , ÜTİNE G. E. , BODUROĞLU O. K.

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Turkey, 22 - 24 October 2015

2015

2015

Skeletal Dysplasia With Intellectual Disability Dyggve Melchior Clausen Dysplasia

ÜTİNE G. E. , ŞİMŞEK KİPER P. Ö. , BODUROĞLU O. K. , SHİRO İ., GEN N.

International Skeletal Dysplasia Society 12th Biennial Meeting, 29 July - 01 August 2015

2015

2015

Roberts SC Phocomelia Syndrome A Rare Clinical Entity

GÜLERAY N. , ŞİMŞEK KİPER P. Ö. , DEMİREL M. , ÇETİNKAYA A., ÜTİNE G. E. , ALİKAŞİFOĞLU M. , et al.

International Skeletal Dysplasia Society 12th Biennial Meeting, 29 July - 01 August 2015

2015

2015

Keutel Syndrome A Rare Clinical Entity

DEMİREL M. , ŞİMŞEK KİPER P. Ö. , ÜTİNE G. E. , BODUROĞLU O. K.

International Skeletal Dysplasia Society 12th Biennial Meeting, July 29th-August 1, 2015-Istanbul, Turkey, Abstract Book p.109., İstanbul, Turkey, 29 July - 01 August 2015

2015

2015

Many faces of Rett syndrome: Is there still a diagnostic delay?

UTİNE G. E. , ZENGİN AKKUŞ P. , BODUROĞLU O. K. , HALİLOĞLU V. G.

11th European Paediatric Neurology Society (EPNS) Congress, Viyana, Austria, 27 - 30 May 2015, vol.19, pp.148

2014

2014

Novel Mutations in the Osteoprotegerin Gene TNFRSF11B in Two Patients with Juvenile Paget's Disease.

Naot D., Choi A., Musson D., ŞİMŞEK KİPER P. Ö. , ÜTİNE G. E. , BODUROĞLU O. K. , et al.

Annual Meeting of the American-Society-for-Bone-and-Mineral-Research, Texas, United States Of America, 12 - 15 September 2014, vol.29 identifier

2009

2009

Rapid prenatal diagnosis of common aneuploidies by QF-PCR, four years experience of Hacettepe University

Aktas D., Kutukcu B., Utine G., ALANAY Y., Deren O., BODUROĞLU O. K. , et al.

7th European Cytogenetics Conference, Stockholm, Sweden, 4 - 07 July 2009, vol.17, pp.209 identifier

2008

2008

Prospective analysis of a second-trimester biochemical screening test for trisomy 21

Portakal O., Deren O., BODUROĞLU O. K. , Hascelik G.

60th Annual Meeting of the American-Association-for-Clinical-Chemistry, Washington, Kiribati, 27 - 31 July 2008, vol.54 identifier

2007

2007

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, Turkey, 7 - 10 July 2007, vol.15, pp.100 identifier

2007

2007

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, Turkey, 7 - 10 July 2007, vol.15, pp.96 identifier

2007

2007

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, Turkey, 7 - 10 July 2007, vol.15, pp.142-143 identifier

2007

2007

Partial monosomy of distal 6q

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

6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.70 identifier

Supported Projects

2016 - 2016

2016 - 2016

Genetikte Teknolojik İlerlemeler

Project Supported by Higher Education Institutions

ALİKAŞİFOĞLU M. (Executive) , BODUROĞLU O. K. , ÜTİNE G. E.

2016 - 2016

2016 - 2016

Klinik Genetikte Tanı ve Tedavi Alanlarında İlerlemeler

Project Supported by Higher Education Institutions

ÜTİNE G. E. (Executive) , BODUROĞLU O. K.

2015 - 2016

2015 - 2016

1q211 Mikrodelesyon Sendromu

Project Supported by Higher Education Institutions

ÜTİNE G. E. (Executive) , BODUROĞLU O. K. , ALİKAŞİFOĞLU M.

2015 - 2016

2015 - 2016

1q211 Mikrodelesyon ve Mikroduplikasyon Sendromları

Project Supported by Higher Education Institutions

BODUROĞLU O. K. (Executive) , ÜTİNE G. E. , ALİKAŞİFOĞLU M.


Citations

Total Citations (WOS): 808

h-index (WOS): 16