Prof. Dr. Adnan YÜKSEL | AVESİS

Akademik Veri Yönetim Sistemi

Yayınlar & Eserler

Makaleler 23

1. Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome

Lee B., Duz M. B., Sagong B., Koparir A., Lee K., Choi J. Y., et al.

GENE , cilt.576, sa.2, ss.776-781, 2016 (SCI-Expanded)

2. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

Karaca E., Karaca E., Harel T., Harel T., Pehlivan D., Pehlivan D., et al.

NEURON , cilt.88, sa.3, ss.499-513, 2015 (SCI-Expanded) Sürdürülebilir Kalkınma

Sürdürülebilir Kalkınma

3. Keutel Syndrome: Report of Two Novel MGP Mutations and Discussion of Clinical Overlap With Arylsulfatase E Deficiency and Relapsing Polychondritis

Weaver K. N., El Hallek M., Hopkin R. J., Sund K. L., Henrickson M., del Gaudio D., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.164, sa.4, ss.1062-1068, 2014 (SCI-Expanded)

4. Melatonin attenuates phenytoin sodium-induced DNA damage

ERENBERK U., Dundaroz R., Gok O., UYSAL Ö., Agus S., Yuksel A., et al.

DRUG AND CHEMICAL TOXICOLOGY , cilt.37, sa.2, ss.233-239, 2014 (SCI-Expanded)

5. A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasia

Gezdirici A., YENİGÜN A., Koparir E., Yosunkaya E., Ulucan H., Seven M., et al.

CLINICAL DYSMORPHOLOGY , cilt.22, sa.1, ss.33-35, 2013 (SCI-Expanded)

6. Genetics Of Cardiomyopathies

ÖZEN M., Karaca E., YÜKSEL A.

Turkiye Klinikleri J Cardiol-Special Topics , cilt.4, ss.5-12, 2011 (Hakemli Dergi)

7. Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, and Facial Dysmorphism in a Case of Lowe Syndrome With Novel OCRL1 Gene Mutation

Yuksel A., Karaca E., Albayram M. S.

JOURNAL OF CHILD NEUROLOGY , cilt.24, sa.1, ss.93-96, 2009 (SCI-Expanded)

8. Spontaneous intracranial hypotension syndrome in a patient with Marfan syndrome and autosomal dominant polycystic kidney disease

Albayram S., Bas A., Ozer H., Dikici S., Gulertan S. Y., Yuksel A.

HEADACHE , cilt.48, sa.4, ss.632-636, 2008 (SCI-Expanded)

9. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Brancati F., Barrano G., Silhavy J. L., Marsh S. E., Travaglini L., Bielas S. L., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.81, sa.1, ss.104-113, 2007 (SCI-Expanded)

10. Evaluation of mental retardation - Part 1: Etiologic classification of 4659 patients with mental retardation or multiple congenital abnormality and mental retardation

Yüksel A., Yüksel A., Kayserili H., Kayserili H., Yeşil G., Yeşil G., et al.

Journal of Pediatric Neurosciences , cilt.2, sa.2, ss.45-52, 2007 (ESCI)

11. Evaluation of mental retardation - Part 2: The factors that elucidate the etiologic diagnosis of the patients with mental retardation or multiple congenital abnormality and mental retardation

Yüksel A., Yüksel A., Kayserili H., Kayserili H., Yeşil G., Yeşil G., et al.

Journal of Pediatric Neurosciences , cilt.2, sa.2, ss.53-57, 2007 (ESCI)

12. Facial Dysmorphism in Leigh Syndrome With SURF-1 Mutation and COX Deficiency

Yuksel A., Yuksel A., Seven M., Seven M., Cetincelik U., Cetincelik Ü., et al.

Pediatric Neurology , cilt.34, sa.6, ss.486-489, 2006 (SCI-Expanded)

13. The effects of vigabatrin on rat liver antioxidant status

Cengiz M., Yüksel A., Özaydin A., Özkiliç A., Çetinel Ü., Seven M.

Drug Metabolism and Drug Interactions , cilt.21, sa.2, ss.109-115, 2005 (Scopus)

14. Clinicohistopathologic features of sarcoglycanopathy in four siblings Sarkoglikanopatili dört kardeşin klinikohistopatolojik özellikleri

EMIROGLU H. H., Yüksel A., SERDAROGLU P., Topaloǧlu H., Erginel-Ünaltuna N., ATAOGLU E., et al.

Cocuk Sagligi ve Hastaliklari Dergisi , cilt.47, sa.1, ss.30-33, 2004 (Scopus)

15. Neuroblastoma in a dysmorphic girl with a partial duplication of 2p caused by an unbalanced translocation.

Seven M., Karaman B., Hacihanefioglu S., Deviren A., Yuksel A., Basaran S.

Clinical dysmorphology , cilt.11, sa.1, ss.39-42, 2002 (SCI-Expanded)

16. Trisomy 9p syndrome in two brothers: with new clinical findings and review of the literature

HACIHANEFIOGLU S., GUVEN G., Deviren A., Silahtaroğlu A., FENERCI E., OZKILIC A., et al.

GENETIC COUNSELING , cilt.13, sa.1, ss.41-48, 2002 (SCI-Expanded)

17. A case of acampomelic campomelic dysplasia

Ozkilic A. Ç., Seven M., Yuksel A.

GENETIC COUNSELING , cilt.13, sa.1, ss.23-28, 2002 (SCI-Expanded)

18. Changes in the antioxidant system in epileptic children receiving antiepileptic drugs: Two-year prospective studies

Yuksel A., Cengiz M., Seven M., Ulutin T.

JOURNAL OF CHILD NEUROLOGY , cilt.16, sa.8, ss.603-606, 2001 (SCI-Expanded)

19. A case of symbrachydactyly with oligodactyly

Seven M., Yuksel A., Ozkilic A. Ç.

GENETIC COUNSELING , cilt.12, sa.1, ss.77-83, 2001 (SCI-Expanded)

20. The effects of carbamazepine and valproic acid on the erythrocyte glutathione, glutathione peroxidase, superoxide dismutase and serum lipid peroxidation in epileptic children

Cengiz M., Yuksel A., Seven M.

PHARMACOLOGICAL RESEARCH , cilt.41, sa.4, ss.423-425, 2000 (SCI-Expanded) Sürdürülebilir Kalkınma

Sürdürülebilir Kalkınma

21. N-acetyl-beta-glucosaminidase and beta-galactosidase activity in children receiving antiepileptic drugs

Yuksel A., Cengiz M., Seven M., Cengiz S., Cenani A.

PEDIATRIC NEUROLOGY , cilt.20, sa.1, ss.24-26, 1999 (SCI-Expanded)

22. b-Galactosidase and b-Glicosidase Enzyme Levels in healthy Turkish Children

SEVEN M., Yüksel A., Cengiz M., Elçioğlu n., Cenani A.

Türk Biyokimya Dergisi , cilt.22, sa.2, ss.21-24, 1996 (Hakemli Dergi)

23. otozomal Resesif Kolobomatöz Mikroftalmi

SEVEN M., Suyugül Z., Yüksel A., Cenani A.

MN OFTALMOLOJİ , cilt.1, sa.3, ss.99-102, 1996 (Hakemli Dergi)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 8

1. Monoorşizm ve hipospadyası olan mos45,X karyotipine sahip bir erkek olgu sunumu

YILMAZ Ş., TARKAN ARGÜDEN Y., KURU R. D., ÇIRAKOĞLU A., YOSUNKAYA E., DEVİREN A., et al.

XI. Ulusal Tıbbi Biyoloji ve Genetik Kongresi, Bildiri Kitabı, Muğla, Türkiye, ss.179

2. Derivatif 22 [der(22)t(11;22)(q23;q11)] Sendrom’lu Bir vaka Sunumu.

SAĞCI GÜVEN G., KURU R. D., YOSUNKAYA E., YILMAZ Ş., TARKAN ARGÜDEN Y., ÇIRAKOĞLU A., et al.

VII.Ulusal Prenatal Tanı Ve Tıbbi Genetik Kongresi,, Kayseri, Türkiye, ss.158, (Tam Metin Bildiri)

3. Russel-Silver Syndrome, A Follow Up Study

Elçioğlu N., Tüysüz B., Seven M., YÜKSEL A., CENGİZ M., Cenani A.

5 th Regional Congress of pediatric societies of Turkish Speaking Countries With International Participation, Biskek, Kırgızistan, 25 - 28 Eylül 1999, ss.103, (Tam Metin Bildiri)

4. Lysosomal Enzymes in Children Receiving Antiepileptic Drugs

YÜKSEL A., CENGİZ M., Seven M., Elçioğlu N., Cengiz S., Ulutin T.

6 th Asian Oceanian Congress of Child Neurology, Penang, Malezya, 5 - 08 Eylül 1999, ss.1, (Tam Metin Bildiri)

5. Antiepileptik ilaç kullanımının Glutatyon, Glutatyon peroksidaz, Süperoksit dismutaz ve Lipid peroksidasyonuna etkisi

YÜKSEL A., CENGİZ M., Seven M., ULUTİN T., Cenani A.

4. Çocuk Nörolojisi Günleri Program Kitabı, İstanbul, Türkiye, 11 - 14 Kasım 1998, ss.17

6. Epileptik çocuklarda Antiepileptik ilaçların N-Asetil ? glukozaminidaz ve ? galaktozidaz aktivitelerine etkisi

YÜKSEL A., CENGİZ M., Seven M., Cengiz S., Cenani A.

1. Ulusal Epilepsi Kongresi Kitapçoğı, İstanbul, Türkiye, 11 - 13 Haziran 1998, ss.16

7. A. ß- Galactosidase and ß-Glucosidase Enzyme Levels in Healty Turkish Children.

CENGİZ M., YÜKSEL A., Seven M., Cenani A.

2nd Balkan Meeting on Genetics, İstanbul, Türkiye, 4 - 06 Kasım 1996, cilt.3, ss.60

8. Two Brothers with Ataxia Telengiectasia, One with A t(14;14) Findings

HACIHANEFİOĞLU S., DEVİREN A., ÇIRAKOĞLU A., SUYUGÜL Z., SEVEN M., YÜKSEL A., et al.

2nd Balkan Meeting on Human Genetics, Türkiye, (Tam Metin Bildiri)

Diğer Yayınlar 2

1. The Effects of Vigabatrin on Rat Liver Antioxidant Status

SEVEN M., Cengiz m., yüksel a., Özaydın A., özkılıç a.

Diğer, ss.109-115, 2005

2. Erythrocyte Glutathione, Glutathione Peroxidase, Superoxidase Dismutase and Serum Lipid Peroxidation in Epileptic Children with Valproate and Carbamazepine Menotherapy

SEVEN M., yüksel a., Cengiz M., Ulutin T.

Diğer, ss.73-81, 2000

Metrikler

Yayın

33

Yayın (WoS)

18

Yayın (Scopus)

20

Atıf (WoS)

510

H-İndeks (WoS)

9

Atıf (Scopus)

578

H-İndeks (Scopus)

10

Proje

4

BM Sürdürülebilir Kalkınma Amaçları