Yayınlar & Eserler

Yayın Ağı
Makaleler 31
Tümü (31)
SCI-E, SSCI, AHCI (30)
SCI-E, SSCI, AHCI, ESCI (31)
ESCI (1)
Scopus (31)
TRDizin (2)

1. Extracellular chaperones in lysosomal storage diseases

İNCİ A., DÖKMECİ S.
MOLECULAR GENETICS AND METABOLISM , sa.1, 2025 (SCI-Expanded, Scopus) identifier identifier

2. Variant-specific effects of GBA1 mutations on dopaminergic neuron proteostasis

Onal G., YALÇIN ÇAKMAKLI G., Özçelik C., Boussaad I., Şeker U., Fernandes H. J. R., et al.
Journal of Neurochemistry , 2024 (SCI-Expanded, Scopus) identifier identifier identifier

3. Splenic Gaucheroma Leading to Incidental Diagnosis of Gaucher Disease in a 46-Year-Old Man with a Rare GBA Mutation: A Case Report

Erdal İ., YILDIZ Y., ÖNAL G., AKTEPE O. H., Düzgün S. A., Sağlam A., et al.
Endocrine, Metabolic and Immune Disorders - Drug Targets , cilt.23, sa.2, ss.230-234, 2023 (SCI-Expanded, Scopus) identifier identifier identifier

4. A living material platform for the biomineralization of biosilica

Kırpat Konak B. M., Bakar M. E., Ahan R. E., Özyürek E., DÖKMECİ S., Şafak Şeker U. Ö.
Materials Today Bio , cilt.17, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma identifier identifier identifier

5. Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience

GÜMÜŞ E., KARHAN A. N., HIZARCIOĞLU GÜLŞEN H., DEMİR H., ÖZEN H., SALTIK TEMİZEL İ. N., et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.64, sa.11, 2021 (SCI-Expanded, Scopus) identifier identifier identifier

6. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)

Klionsky D. J., Abdel-Aziz A. K., Abdelfatah S., Abdellatif M., Abdoli A., Abel S., et al.
AUTOPHAGY , cilt.17, sa.1, ss.1-382, 2021 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

7. Molecular genetic analysis of Turkish Gaucher's disease patients reveals three novel variants in Glucocerebrosidase (GBA) gene

ÖNAL G., Gumus E., DEMİR H., YÜCE A., DÖKMECİ S.
META GENE , cilt.25, 2020 (ESCI, Scopus) identifier identifier

8. Impairment of lipophagy by PNPLA1 mutations causes lipid droplet accumulation in primary fibroblasts of Autosomal Recessive Congenital Ichthyosis patients

ÖNAL G., KUTLU Ö., Ozer E., GÖZÜAÇIK D., KARADUMAN A., Emre S.
JOURNAL OF DERMATOLOGICAL SCIENCE , cilt.93, sa.1, ss.50-57, 2019 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier

9. Application of Fourier transform infrared spectroscopy to biomolecular profiling of cultured fibroblast cells from Gaucher disease patients: A preliminary investigation

İĞCİ N., Sharafi P., Demiralp D. O., Demiralp C. O., YÜCE A., DÖKMECİ S.
ADVANCES IN CLINICAL AND EXPERIMENTAL MEDICINE , cilt.26, sa.7, ss.1053-1061, 2017 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier

10. Lipid Droplets in Health and Disease

Onal G., Kutlu O., Gozuacik D., EMRE S.
LIPIDS IN HEALTH AND DISEASE , cilt.16, 2017 (SCI-Expanded, Scopus) identifier identifier identifier

11. Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis.

Dökmeci-Emre S., TAŞKıRAN Z. E., YÜZBAŞıOĞLU A., ÖNAL G., AKARSU A. N., KARADUMAN A., et al.
The Turkish journal of pediatrics , cilt.59, ss.475-482, 2017 (SCI-Expanded, Scopus, TRDizin) Creative Commons License identifier identifier identifier

12. Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation

NUR B., Gencpinar P., YÜZBAŞIOĞLU A., Emre S., MIHÇI E.
EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.58, sa.4, ss.238-242, 2015 (SCI-Expanded, Scopus) identifier identifier identifier

13. Chanarin-Dorfman Syndrome with Multi-System Involvement in Two Siblings

Camlar S. A., Gencpinar P., MAKAY B., YÜZBAŞIOĞLU A., ARSLAN N., DÖKMECİ S., et al.
TURKISH JOURNAL OF HEMATOLOGY , cilt.30, sa.1, ss.72-75, 2013 (SCI-Expanded, Scopus, TRDizin) Creative Commons License identifier identifier

14. Outcome of enzyme replacement therapy in Turkish patients with Gaucher disease: does late intervention affect the response?

Arikan-Ayyildiz Z., YÜCE A., Emre S., Baysoy G., Saltik-Temizel I. N., Gurakan F.
TURKISH JOURNAL OF PEDIATRICS , cilt.53, sa.5, ss.499-507, 2011 (SCI-Expanded, Scopus) identifier identifier identifier

15. Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene

EMRE S., Unver N., EVANS S., YÜZBAŞIOĞLU A., GÜRAKAN F., GÜMRÜK F., et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.53, sa.3, ss.141-144, 2010 (SCI-Expanded, Scopus) identifier identifier identifier

16. Molecular analysis of Turkish Gaucher disease patients: Identification of novel mutations in glucocerebrosidase (GBA) gene

Emre S., Gurakan F., YÜCE A., Rolf A., Scott R., ÖZEN H.
EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.51, sa.4, ss.315-321, 2008 (SCI-Expanded, Scopus) identifier identifier identifier

17. Multiple endocrine neoplasia type 2b associated with lichen nitidus

Altaykan A., Ersoy-Evans S., Emre S., Orhan D., Guecer S., Erkin G.
EUROPEAN JOURNAL OF DERMATOLOGY , cilt.17, sa.4, ss.292-294, 2007 (SCI-Expanded, Scopus) identifier identifier identifier

18. Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13

Lesueur F., Bouadjar B., Lefevre C., Jobard F., Audebert S., Lakhdar H., et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY , cilt.127, sa.4, ss.829-834, 2007 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier

19. Molecular Analysis of Turkish Mucopolysaccharidosis IVA (Morquio A) Patients: Identification of Novel Mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) Gene

Terzioglu M., TOKATLI A., COŞKUN T., Emre S.
HUMAN MUTATION , cilt.20, sa.6, 2002 (SCI-Expanded, Scopus) identifier identifier identifier

20. Flegel's disease: treatment with topical calcipotriol

BAYRAMGÜRLER D., Apaydin R., Dokmeci S., Ustun M.
CLINICAL AND EXPERIMENTAL DERMATOLOGY , cilt.27, sa.2, ss.161-162, 2002 (SCI-Expanded, Scopus) identifier identifier identifier

21. Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.

Emre S., Terzioglu M., Tokatli A., Coskun T., Ozalp I., Weber B., et al.
Human mutation , cilt.19, sa.2, ss.184-5, 2002 (SCI-Expanded, Scopus) identifier identifier

22. Biochemical and molecular analysis of mucopolysaccharidoses in Turkey

Emre S., Terzioglu M., Coskun T., Tokatli A., Ozalp I., Muller V., et al.
TURKISH JOURNAL OF PEDIATRICS , cilt.44, sa.1, ss.13-17, 2002 (SCI-Expanded, Scopus) identifier identifier identifier

23. Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1

Jobard F., Lefevre C., Karaduman A., Blanchet-Bardon C., Emre S., Weissenbach J., et al.
HUMAN MOLECULAR GENETICS , cilt.11, sa.1, ss.107-113, 2002 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier

24. Drug eruptions: a study including all inpatients and outpatients at a dermatology clinic of a university hospital

Apaydin R., Bilen N., Dokmeci S., BAYRAMGÜRLER D., Yildirim G.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY , cilt.14, sa.6, ss.518-520, 2000 (SCI-Expanded, Scopus) identifier identifier identifier

25. Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity

Fischer J., Faure A., Bouadjar B., Blanchet-Bardon C., Karaduman A., Thomas I., et al.
AMERICAN JOURNAL OF HUMAN GENETICS , cilt.66, sa.3, ss.904-913, 2000 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier

26. Effects of acrivastine, loratadine and cetirizine on histamine-induced wheal and flare responses.

Bayramgürler D., Bilen N., Apaydýn R., Altintaş L., Sal G., Dökmeci S., et al.
Clinical and experimental dermatology , cilt.24, sa.5, ss.407-11, 1999 (SCI-Expanded, Scopus) identifier identifier

27. The effect of zinc-supplemented bread consumption on school children with asymptomatic zinc deficiency

Kilic L., Ozalp I., Coskun T., Tokatli A., Emre S., Saldamli I., et al.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION , cilt.26, sa.2, ss.167-171, 1998 (SCI-Expanded, Scopus) identifier identifier identifier

28. A linkage analysis in two families with bilateral retinoblastoma

Emre S., Sungur A., Hazar V., Bilgic S., Buyukpamukcu M., Gunalp I.
TURKISH JOURNAL OF PEDIATRICS , cilt.38, sa.4, ss.413-417, 1996 (SCI-Expanded, Scopus) identifier identifier identifier

29. Loss of heterozygosity in the VNTR region of intron 1 of p53 in two retinoblastoma cases

Emre S., Sungur A., Bilgic S., Buyukpamukcu M., Gunalp I., Ozguc M.
PEDIATRIC HEMATOLOGY AND ONCOLOGY , cilt.13, sa.3, ss.253-256, 1996 (SCI-Expanded, Scopus) identifier identifier identifier

30. A STUDY ON ENZYME-ACTIVITIES OF SOME SPHINGOLIPIDOSES

OZKARA H. A., ARIKAN M., TOPCU M., EMRE S., RENDA Y.
TURKISH JOURNAL OF PEDIATRICS , cilt.36, sa.3, ss.215-221, 1994 (SCI-Expanded, Scopus) identifier identifier

31. SCE FREQUENCY OF HERPES-SIMPLEX VIRUS TYPE-I INFECTED-CELLS

TEZEL A., ATABEY N., EMRE S., SAKIZLI M.
MUTATION RESEARCH , cilt.306, sa.1, ss.81-83, 1994 (SCI-Expanded, Scopus) identifier identifier identifier
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 14

1. Glukozilseramidaz-Beta Gen Mutasyonlarının indüklenmiş Pluripotent Kök Hücre Kaynaklı Dopaminerjik Nöronlarda α-sinüklein Birikimi ve Salınımına Etkisi

Dökmeci S., Elibol B., Yalçın Çakmaklı G., Yüce A., Demir H., Şeker U. Ö. Ş.
Ulusal Tıbbi Biyoloji ve Genetik Kongresi, Ankara, Türkiye, 28 - 31 Ekim 2021, (Yayınlanmadı) Sürdürülebilir Kalkınma

2. Nörolojik Hastalıklarda Hücre Ölümünün Moleküler Mekanizmaları

Dökmeci S.
Ulusal Tıbbi Biyoloji ve Genetik Kongresi, 28 - 31 Ekim 2021, (Yayınlanmadı) Sürdürülebilir Kalkınma

3. Nörodejeneratif hastalıkların seyrinde oral kavite kaynaklı kök hücrelerin etkileri: sistematik bir derleme.

UZUNOĞLU ÖZYÜREK E., ÖNAL G., DÖKMECİ S.
XVI. TIBBİ BİYOLOJİ ve GENETİK KONGRESİ, BODRUM MUĞLA, Türkiye, 27 - 30 Ekim 2019, (Özet Bildiri)

4. Generation and characterization of iPSC lines derived from patients with GBA mutations

ÖNAL G., YALÇIN ÇAKMAKLI G., ELİBOL B., Yüce A., Krüger R., DÖKMECİ S.
13th European Working Group on Gaucher Disease Meeting, Clermont-Ferrand, Fransa, 4 - 06 Temmuz 2019, ss.50, (Özet Bildiri)

5. Long-term visceral and hematologic outcomes of enzyme replacement therapy in a pediatric cohort of type 1 and type 3 Gaucher disease: A single center experience

Gumus E., Karhan A. N., DEMİR H., ÖZEN H., Temizel İ. N., Emre S., et al.
15th Annual Research Meeting of the WORLDSymposium(TM), Florida, Amerika Birleşik Devletleri, 4 - 07 Şubat 2019, cilt.126, (Özet Bildiri) identifier

6. Analysis of genetic background in Turkish early onset Parkinson’s disease patients

AKBABA T. H., ÖNAL G., YÜZBAŞIOĞLU A., YALÇIN ÇAKMAKLI G., PEYNİRCİOĞLU B., ÖZGÜÇ M., et al.
6th International Congress of the Molecular Biology Association of Turkey, İzmir, Türkiye, 05 Eylül 2018, ss.46, (Tam Metin Bildiri)

7. Analysis of genomic rearrangements in aTurkish cohort of early onset Parkinson’sdisease

ÖNAL G., YÜZBAŞIOĞLU A., YALÇIN ÇAKMAKLI G., PEYNİRCİOĞLU B., DÖKMECİ S., ÖZGÜÇ M., et al.
42nd FEBS Congress, 10 - 14 Eylül 2017, (Özet Bildiri)

8. How common are the genomic rearrangements among possiblyautosomal recessive PD cases in Turkey?

YALÇIN ÇAKMAKLI G., YÜZBAŞIOĞLU A., ÖNAL G., PEYNİRCİOĞLU B., ÖZGÜÇ M., DÖKMECİ S., et al.
International Congress of Parkinson’xxs Disease and Movement Disorders, 4 - 08 Haziran 2017, (Özet Bildiri)

9. Analysis of Genomic Rearrangements in a Turkish cohort of early onset Pwarkinso s Disease

YÜZBAŞIOĞLU A., ÖNAL G., YALÇIN ÇAKMAKLI G., PEYNİRCİOĞLU B., ÖZGÜÇ M., ELİBOL B., et al.
^rd International Parkinson Disease Symposium, 6 - 08 Ekim 2016, (Özet Bildiri)

10. The role of PNPLA1 protein in lipophagy mediated regulation of lipid droplets

Onal G., Oral O., TASKIRAN E. Z., YÜZBAŞIOĞLU A., KARADUMAN A., Gozuacik D., et al.
41st FEBS Congress on Molecular and Systems Biology for a Better Life, Kusadasi, Türkiye, 3 - 08 Eylül 2016, cilt.283, ss.31, (Özet Bildiri) identifier

11. Yağ Damlacıklarının Lipofaji Aracılı Regülasyonunda PNPLA1 Proteininin Rolü

ÖNAL G., ORAL Ö., TAŞKIRAN Z. E., YÜZBAŞIOĞLU A., KARADUMAN A., GÖZÜAÇIK D., et al.
XIV. Ulusal Tıbbi Biyoloji ve Genetik Kongresi, Muğla, Türkiye, 27 - 30 Ekim 2015, (Tam Metin Bildiri)

12. Molecular Mechanism of Autophagic Degradation Pathway in Gacucher s Disease

ORAL Ö., sharafi p., YÜCE A., GÖZÜAÇIK D., DÖKMECİ S.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Lyon, Fransa, 1 - 04 Eylül 2015

13. Skeletal manifestations of children with Gaucher disease type I and type III

YÜCE A., HIZARCIOĞLU GÜLŞEN H., DEMİR H., Emre S., Gurakan F.
11th Annual WORLD Symposium of the Lysosomal-Disease-Network, Florida, Amerika Birleşik Devletleri, 9 - 13 Şubat 2015, cilt.114, (Özet Bildiri) identifier

14. The identification of relationship between GC genotype and Gaucher disease with proteomic analysis

Emre S., Demiralp D. O., Gurakan F., Gumustekin C., Altuner M., YÜCE A.
4th Annual World Symposium of the Lysosomal-Disease-Network, Nevada, Amerika Birleşik Devletleri, 13 - 15 Şubat 2009, cilt.96, (Özet Bildiri) identifier
Metrikler

Yayın

46

Yayın (WoS)

35

Yayın (Scopus)

31

Atıf (WoS)

750

H-İndeks (WoS)

11

Atıf (Scopus)

991

H-İndeks (Scopus)

13

Atıf (Scholar)

8

H-İndeks (Scholar)

1

Proje

19

Tez Danışmanlığı

5

Açık Erişim

7
BM Sürdürülebilir Kalkınma Amaçları