Yayınlar & Eserler

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Clinical and Genetic Investigation of Premature Ovarian Insufficiency Cases from Turkey

JOURNAL OF GYNECOLOGY OBSTETRICS AND HUMAN REPRODUCTION, cilt.48, ss.817-823, 2019 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Utilization of neurosonography for evaluation of the corpus callosum malformations in the era of fetal magnetic resonance imaging.

The journal of obstetrics and gynaecology research, cilt.45, ss.1472-1478, 2019 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

PRIMARY COENZYME Q10 DEFICIENCY-6 (COQ10D6): CASE REPORT

PEDIATRIC NEPHROLOGY, cilt.32, ss.1763, 2017 (SCI İndekslerine Giren Dergi) identifier

Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C.

Clinical dysmorphology, cilt.25, ss.192-4, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Idiopathic angioedema with F12 mutation: is it a new entity?

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology, cilt.114, ss.154-6, 2015 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

Skull Defects, Alopecia, Hypertelorism, and Notched Alae Nasi Caused by Homozygous ALX4 Gene Mutation

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.164, ss.1322-1327, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Second trimester choroid plexus cysts and trisomy 18

INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS, cilt.85, ss.24-29, 2004 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Diğer Dergilerde Yayınlanan Makaleler

Array-CGH Analizlerinde Saptanan De Novo Değişimlere Klinik Genetik Yaklaşım

Gazi Medical Journal, cilt.30, ss.361-364, 2019 (Hakemli Üniversite Dergisi)

MOLECULAR ANALYSIS OF FGFR1-3, TWIST1, MSX2, POR, FREM1 AND RAB23 GENES IN SYNDROMIC AND NON-SYNDROMIC CRANIOSYNOSTOSIS CASES

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, cilt.82, ss.116-122, 2019 (ESCI İndekslerine Giren Dergi) identifier

APPLICATION OF MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION) IN FETUSES WITH AN ABNORMAL SONOGRAM AND NORMAL KARYOTYPE

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, cilt.82, ss.5-11, 2019 (ESCI İndekslerine Giren Dergi) identifier

Clinical Genetic Approach to De Novo Changes Identified in Array-CGH Analysis

GAZI MEDICAL JOURNAL, cilt.30, ss.361-364, 2019 (ESCI İndekslerine Giren Dergi) identifier identifier

CLINICAL CLASSIFICATION OF RADIAL RAY DEFECTS AND RESEARCH INTO ETIOPATHOGENESIS

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, cilt.81, ss.127-138, 2018 (ESCI İndekslerine Giren Dergi) identifier

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Genetic Evaluation of Idiopathic Short Stature

European Society for Paediatric Endocrinology (ESPE), Vienna, Avusturya, 19 - 21 Eylül 2019, ss.323

Clinical phenotype and genotype association in patients with 21-hydroxylase deficiency

58th Annuel Meeting of the European Society for Paediatric Endocrinology /ESPE), Vienna, Avusturya, 19 - 21 Eylül 2019, cilt.1, no.1, ss.361

Genotype-Phenotype Correlation and Clinical Findings in 145 Patients with Congenital Adrenal Hyperplasia: Single Centre Experience

58 th Annual Meeting European Society for Paediatric Endocrinology (ESPE), Vienna, Avusturya, 20 - 22 Eylül 2019, cilt.1, no.1, ss.282

Targeted Panel Gene Sequencing for Identification of Genetic Etiology of 46,XY Disorders of Sex Development.

58th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Vienna, Avusturya, 19 - 21 Eylül 2019, cilt.91, no.1, ss.361

Novel variants in DHH gene identified with 46,XY gonadal dysgenesis

52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, İsveç, 15 - 18 Haziran 2019, cilt.27, ss.1250-1251 identifier

The Clinical Features and Effect of Growth Hormone Treatment in 3-M Syndrome Cases with Severe Growth Retardation

58th Annual Meeting of European Society for Paediatric Endocrinology (ESPE), Vienna, Avusturya, 19 - 21 Eylül 2019, cilt.1, no.1, ss.452

Diagnostic contribution of in house designed next generation sequencing panel gene test for Disorders of Sexual Development from Turkey

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, İtalya, 16 - 19 Haziran 2018, cilt.27, ss.79-80 identifier

Assesment of candidate genes in patients with frontotemporal lobar degeneration spectrum: preliminary findings

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, İtalya, 16 - 19 Haziran 2018, cilt.27, ss.277-278 identifier

Nephrotic Syndrome and Genetics

Erciyes Medical Genetics Days 2019, Kayseri, Türkiye, 21 - 23 Şubat 2019, cilt.41, no.1, ss.5

Tüm Ekzom Dizilemenin Zayıf Noktaları

13. “Uluslararası Katılımlı” Ulusal Tıbbi Genetik Kongresi. , Antalya, Türkiye, 7 - 11 Kasım 2018, cilt.1, no.1, ss.31

3M Sendromlu iki oılguda CUL7 geninde saptanan üç yeni varyant

13. “Uluslararası Katılımlı” Ulusal Tıbbi Genetik Kongresi., Antalya, Türkiye, 7 - 11 Kasım 2018, cilt.1, no.1, ss.272

Patolojik ultrason bulgulu fetuslarda PTPN11 gen analiz sonuçları

Türkiye Maternal Tıp ve Perinatoloji Derneği XI. Ulusal Kongresi., İstanbul, Türkiye, 31 Ekim - 03 Kasım 2018, cilt.1, no.1, ss.1

Clinical and molecular findings in Turkish patients with MPS IV

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.300 identifier

Mutation spectrum of Fanconi anemia associated genes in eleven patients from Turkey

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.468-469 identifier

32 novel pathogenic sequence variants in 253 DMD/BMD patients from Turkey

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.428-429 identifier

Evaluation of Three Patients with 46,XY Gonadal Dysgenesis due to Desert Hedgehog Gene Mutations

57th Annual Meeting of the European Society for Paediatric Endocrinology, Atina, Yunanistan, 27 - 29 Eylül 2018, ss.558

Moleküler sitogenetik tanı deneyimleri

Kişiselleştirilmiş Tıp ve Moleküler Tanı Sempozyumu ve Biyoinformatik Analizlerin Simülasyon Kursu, İstanbul, Türkiye, 31 Ekim - 03 Kasım 2018, cilt.1, no.1, ss.18

GALT mutation spectrum including four novel alterations in Turkish Cases With Galactosemia

Erciyes Medical Genetics Days 2018, Kayseri, Türkiye, 7 - 10 Mart 2018, cilt.1, no.1, ss.46

Genetic Investigation in Parkinson Disease.

Erciyes Medical Genetics Days 2018, Kayseri, Türkiye, 7 - 10 Mart 2018, cilt.1, no.1, ss.52

PrimerKoenzim Q10 eksikliği-6 (COQ10D6), Olgu Sunumu

4. Çocuk Nefroloji Olgu Panayırı, İzmir, Türkiye, 3 - 04 Kasım 2017, ss.4

Nadir görülen konjenital adrenal hiperplazi nedeni: 17-hidroksilaz eksikliği tanılı vakalarımızın klinik ve genetik bulguları, izlem özellikleri.

XXI. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, 2017, Antalya, Türkiye, 26 - 30 April 2017, cilt.1, no.1, ss.61

Klinik NGS Uygulamalarında Ion Torrent

5. Next Generation Sequencing Hibrid Kurs , İstanbul, Türkiye, 4 - 07 Mayıs 2016, cilt.1, no.1, ss.1

. Nonklasik konjenital adrenal hiperplazi hastalarının genotip ve fenotip özellikleri

38. Pediatri Günleri ve 17. Pediatri Hemşireliği Günleri, İstanbul, Türkiye, 3 - 06 Nisan 2016, cilt.1, no.1, ss.95

Fanconi Anemisi olgularda ilişkili genlerin yeni nesil dizileme teknolojisi ile araştırılması

3. Metabolik Dismorfolojiş Sempozyumu, İstanbul, Türkiye, 10 - 12 Mart 2016, cilt.1, no.1, ss.65

Erken Başalayan Alzheimer Hastalığında PSEN1 ve APP Gen Mutasyonlarının Araştırılması

Uluslararası katkılı ‘Gevher Nesibe Günleri' 2016, Kayseri, Türkiye, 11 - 13 Şubat 2016, cilt.38, no.1, ss.36

The evaluation of AR and SRD5A2 gene mutations in 87 patients with 46, XY DSD children in Turkey

54th Annual Meeting of the ESPE, Barcelona, İspanya, 01 Ekim 2015 - 03 Ekim 2019, cilt.84, no.1, ss.203

CYP11B1 gene mutations in patients congenital adrenal hyperplasia in Turkey

54th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Barcelona, İspanya, 30 Eylül - 03 Ekim 2015, cilt.84, no.1, ss.315

Homozygous and Compound Hetrozygous Mutation in 3 Turkish Family with Jervell and Lange-Nielsen Syndrome

European Human Genetics Conference 2015, Glasgow, İngiltere, 6 - 09 Haziran 2015, cilt.1, no.1, ss.122-123

CYP21A2 gene aberrations in patients with non classical congenital adrenal hyperplasia

Endocrine Society’s 97th Annual Meeting and Expo, California, Amerika Birleşik Devletleri, 5 - 08 Mart 2015, cilt.36, no.1, ss.1

Genotype and phenotype charasterictics of patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

53 rd Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Dublin, İrlanda, 18 - 20 Eylül 2014, cilt.82, no.1, ss.176-177

Clinical features and genetic analyses of type III hereditary angioedema patients

European-Academy-of-Allergy-and-Clinical-Immunology Congress, Copenhagen, Danimarka, 7 - 11 Haziran 2014, cilt.69, ss.483-484 identifier

HBB gene mutation spectrum of beta-thalasemia patients from Turkey.

European Human Genetics Conference 2014, Milan, İtalya, 31 Mayıs - 03 Haziran 2014, cilt.22, no.1, ss.140

Molecular Diagnostic Algorithm of Syndromic Craniosynostosis

European Human Genetics. Conference 2014, Milan, İtalya, 31 Mayıs - 03 Haziran 2014, cilt.22, no.1, ss.215

Homozygous SHOX gene deletion detected by array CGH in a girl with langer mesomelic dysplasia

European Human Genetics Conference 2014, Milan, İtalya, 31 May - 03 June 2014, cilt.22, no.1, ss.404

Joubert sendromu tanılı olguda çoğul hipofiz hormon eksikliği

Çocuk Endokrinolojisi Olgu Sunumları-6, , 2014, İzmir, Türkiye, 18 - 19 Nisan 2014, cilt.1, no.1, ss.6

Prematür Ovarian Yetmezliği olan kadında sitogenetik analiz sonuçları

Erişkin Yaşta Görülen Genetik Hastalıklar Sempozyumu, 2013, İstanbul, Türkiye, 6 - 07 Aralık 2013, cilt.1, no.1, ss.30

Tip III Herediter Anjiödem Hastalarının Klinik ve Genetik Özelliklerinin Analizi

XX. Ulusal Allerji ve Klinik immunoloji Kongresi, Antalya, Türkiye, 2 - 06 November 2013, ss.51

Microcephaly and Blepharophimosis in a girl with 46,XX,ins(6;3)(q23;q27q21)

European Human Genetics Conference 2012, Nuremberg, Almanya, 23 - 26 Haziran 2012, cilt.20, no.1, ss.121

A Case With Terminal Deletion On Long Arm Of Chromosome 1

9th National Medical Genetics Congress of Turkish Medical Society with international Participation, 2010, İstanbul, Türkiye, 1 - 05 Aralık 2010, cilt.78, no.1, ss.36-37

A Case With Duplication 2q

. 9th National Medical Genetics Congress of Turkish Medical Society with international Participation, 2010, İstanbul, Türkiye, 1 - 05 Aralık 2010, cilt.78, no.1, ss.37

Molecular analysis of the PROP1 gene in the cohort of Turkish patients with Combined Pituitary Hormone Deficiency

9th National Medical Genetics Congress of Turkish Medical Society with international Participation, 2010, İstanbul, Türkiye, 1 - 05 Aralık 2010, cilt.78, no.1, ss.96

A Identification Of 18q12.2-q21.1 Deletion : A case Report

9th National Medical Genetics Congress of Turkish Medical Society with international Participation, 2010, İstanbul, Türkiye, 1 - 05 Aralık 2010, cilt.78, no.1, ss.37

Novel De Novo Splice Site Mutation İn EFNB1 Gene Cause Craniofrontonasal Syndrome

9th National Medical Genetics Congress of Turkish Medical Society with international Participation, 2010, İstanbul, Türkiye, 1 - 05 Aralık 2010, cilt.78, no.1, ss.25

How toapproach lissencephaly/subcortical band heterotopia spectrum.

9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, İstanbul, Türkiye, 1 - 05 Aralık 2010, cilt.78, ss.13

A Case Report With A Rare 8p Duplication

9th National Medical Genetics Congress of Turkish Medical Society with international Participation, 2010, İstanbul, Türkiye, 1 - 05 December 2010, cilt.78, no.1, ss.37

Moebius sendromu ile 13q11.2-q13.3 kromozomal bölgesi ilişkisinin delesyon haritalaması yöntemi ile incelenmesi

8. uluslararası katılımlı Ulusal Genetik Kongresi, 2008, Çanakkale, Türkiye, 6 - 09 Mayıs 2008, cilt.1, no.1, ss.198

Unusual prenatal case with multiple marker chromosomes

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.127 identifier

Case presentation: the pregnancy of a Down syndrome mother

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.126 identifier

Doğal ve ICSIgebelik kayıplarında kromozom anomalileri

VIl. Ulusal Tıbbi Genetik Kongresi, Kayseri, Türkiye, 17 - 20 Mayıs 2006, ss.77

Biyokimyasal Tarama Testlerinde Amniyotik Sıvıda Saptanan Kromozom Anomalileri

VIl. Ulusal Tıbbi Genetik Kongresi. 2006, Kayseri, Türkiye, 17 - 20 Mayıs 2006, cilt.1, no.1, ss.134

45,X[9]/46,X,idic(Y)(q11.2)[36] Karyotipine Sahip Bir Olgu

VIl. Ulusal Tıbbi Genetik Kongresi, Kayseri, Türkiye, 17 - 20 Mayıs 2006, ss.72

A new syndrome? A case report with short broad terminal phalanges

European Human Genetics Conference, 2006, Amsterdam, Hollanda, 6 - 09 Mayıs 2006, cilt.14, no.1, ss.156

A case of intrachromosomal ınsertıon on chromosome 7 involvıng fıve breakpoınts.

European Human Genetics Conference, 2006, Amsterdam, Hollanda, 6 - 09 Mayıs 2006, cilt.14, no.1, ss.179

Fetal kromozom analizlerinde saptanan marker kromozomlar

Fetal Tıp Prenatal Tanı Kongresi Maternal Fetal Tıp ve Perinatoloji Derneği Fetal tıp Prenatal Çalışma Grubu, Fetal Tıp Prenatal Tanı 2005 Kongresi , Antalya, Türkiye, 30 Nisan - 02 Mayıs 2005, cilt.1, no.1, ss.109

Fetal Kromozom Anomalilerinin Sınıflandırılması;6926 Amniyotik Sıvı Örneği Sonuçları

VI. Ulusal prenatal Tanı ve Tıbbi Genetik Kongresi- 2004, Antalya, Türkiye, 21 - 24 Nisan 2004, cilt.1, no.1, ss.74

6926 Amniyotik Sıvı Örneği Sitogenetik Sonuçları

. VI. Ulusal Tıbbi Genetik Kongresi, Antalya, Türkiye, 21 - 24 Nisan 2004, ss.25

“Fetal Karyotip analizinde saptanan marker kromozomların aydınlatılması: 20 olgunluk seri sonuçları”

V. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, 2002 , Konya, Türkiye, 9 - 12 Ekim 2002, cilt.1, no.1, ss.3

A case report: Amyoplasia ”Classical artrogryposis”

V. Ulusal Tıbbi Genetik Kongresi, Konya, Türkiye, 9 - 12 Ekim 2002, cilt.1, no.1, ss.9

Okulo-Aurikulo-Vertebral Spektrum’ a Uyan Bir Olgu

IV.Ulusal Prenatal Tanı ve Genetik Kongresi, 2000, İzmir, Türkiye, 3 - 06 Mayıs 2000, cilt.1, no.1, ss.145

Zeynep Kamil Hastanesi İlk Yıl Kromozom Analiz Sonuçları

3. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi- 1998 , Muğla, Türkiye, 26 - 30 Nisan 1998, cilt.1, no.1, ss.111

De Novo Kromozom Anomalilerinin Tanısında Yeni Bir Sistem “Chromoprobe Multiprobe”

3. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, 1998, Muğla, Türkiye, 26 - 30 Nisan 1998, cilt.1, no.1, ss.116

Kitap & Kitap Bölümleri

Genetik ve Multidisipliner Yaklaşımlar

Nefrotik sendromda genetik, Semerci Gündüz CN, Editör, Türkiye Klinikleri Yayınevi, Ankara, ss.8-21, 2019