Yayınlar & Eserler

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Loss of mechanosensitivity causes skeletal muscle degeneration in LGMD2R

FEBS OPEN BIO, cilt.9, ss.199-200, 2019 (SCI İndekslerine Giren Dergi) identifier

Proinflammatory effect of AbetaPP induced ST6GAL1 secretion from C2C12 myogenic cell line

TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI, cilt.40, sa.1, ss.31-36, 2015 (SCI İndekslerine Giren Dergi) identifier identifier

Response (to Sewry and Goebel).

Neuromuscular disorders : NMD, cilt.24, ss.1122, 2014 (SCI Expanded İndekslerine Giren Dergi) identifier identifier

An efficient method for stable transfection of mouse myogenic C2C12 cell line using a nonviral transfection approach

TURKISH JOURNAL OF MEDICAL SCIENCES, cilt.41, sa.5, ss.821-825, 2011 (SCI İndekslerine Giren Dergi) identifier identifier

BRIEF REPORT A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy

NEW ENGLAND JOURNAL OF MEDICINE, cilt.364, sa.10, ss.939-946, 2011 (SCI İndekslerine Giren Dergi) identifier identifier

Efficient transfection of mouse-derived C2C12 myoblasts using a matrigel basement membrane matrix.

Biotechnology journal, cilt.4, ss.1042-5, 2009 (SCI Expanded İndekslerine Giren Dergi) identifier identifier

Linkage Analysis in a Large Primary Osteoporosis Family

TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI, cilt.33, sa.4, ss.215-222, 2008 (SCI İndekslerine Giren Dergi) identifier

Prenatal diagnosis of muscle-eye-brain disease

PRENATAL DIAGNOSIS, cilt.27, sa.1, ss.51-54, 2007 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Calpain-3 mutations in Turkey

EUROPEAN JOURNAL OF PEDIATRICS, cilt.165, sa.5, ss.293-298, 2006 (SCI İndekslerine Giren Dergi) identifier identifier identifier

A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F

NEUROMUSCULAR DISORDERS, cilt.10, ss.247-250, 2000 (SCI İndekslerine Giren Dergi) identifier

A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families

JOURNAL OF MEDICAL GENETICS, cilt.37, sa.5, ss.361-367, 2000 (SCI İndekslerine Giren Dergi) identifier

Heterogeneity within subgroups of the autosomal recessive limb girdle muscular dystrophy in Turkey.

AMERICAN JOURNAL OF HUMAN GENETICS, cilt.65, sa.4, 1999 (SCI İndekslerine Giren Dergi) identifier

Prenatal diagnosis of limb-girdle muscular dystrophy type 2C.

Prenatal diagnosis, cilt.18, ss.1300-3, 1998 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

DNA diagnostic tests in Xp21 dystrophy families for prenatal diagnosis.

The Turkish journal of pediatrics, cilt.40, ss.347-55, 1998 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

Calpain-3 deficiency causes a mild muscular dystrophy in childhood

NEUROPEDIATRICS, cilt.28, sa.4, ss.212-216, 1997 (SCI İndekslerine Giren Dergi) identifier identifier identifier

GOOD CLINICAL OBSERVATION IS ESSENTIAL BEFORE MOLECULAR STUDIES

LANCET, cilt.346, sa.8988, ss.1490, 1995 (SCI İndekslerine Giren Dergi) identifier identifier identifier

An unusual case of Duchenne muscular dystrophy.

Brain & development, cilt.15, ss.313-5, 1993 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Diğer Dergilerde Yayınlanan Makaleler

Could autosomal dominant TGFBI-related corneal dystrophies be modelled in zebrafish by using CRISPR/Cas9: Challenges and Possibilities

World Journal of Ophthalmology and Vision Research, cilt.1, sa.3, ss.1-13, 2019 (Diğer Kurumların Hakemli Dergileri) Creative Commons License

Genome Editing Technologies: From Bench Side to Bedside

Acta Medica, cilt.49, sa.3, ss.30-40, 2018 (Hakemli Üniversite Dergisi)

KAZANILMIŞ EPİGENETİK DEĞİŞİKLİKLERİN KALITIMI VE HASTALIKLARA YATKINLIKTAKİ ROLÜ

İstanbul Tıp Fakültesi Dergisi, cilt.80, sa.1, ss.45-53, 2017 (Hakemli Üniversite Dergisi)

INHERITANCE OF ACQUIRED EPIGENETIC MODIFICATIONS AND ITS ROLE IN DISEASE SUSCEPTIBILITY

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, cilt.80, sa.1, ss.45-53, 2017 (ESCI İndekslerine Giren Dergi) identifier

Exome Sequencing for The Identification of Mendelian Disease Genes

ERCIYES MEDICAL JOURNAL, cilt.36, sa.4, ss.139-143, 2014 (ESCI İndekslerine Giren Dergi) identifier identifier

Next-Generation DNA Sequencing Technologies

ERCIYES MEDICAL JOURNAL, cilt.36, sa.3, ss.99-103, 2014 (ESCI İndekslerine Giren Dergi) identifier identifier

The new era in therapeutic approaches: Non-coding RNAs and diseases

MARMARA MEDICAL JOURNAL, cilt.26, sa.1, ss.5-10, 2013 (ESCI İndekslerine Giren Dergi) identifier identifier

Pitfall of identifying a disease locus by using low-resolution SNP arrays.

Journal of molecular and genetic medicine : an international journal of biomedical research, cilt.5, ss.264-5, 2010 (Diğer Kurumların Hakemli Dergileri) identifier

Beta-sarcoglycan gene mutations in Turkey.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, cilt.23, ss.154-8, 2004 (Diğer Kurumların Hakemli Dergileri) identifier identifier

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Defining the role of mechanotransduction in limb-girdle muscular dystrophy type 2R

Mechanical Forces in Biology (EMBO-EMBL Symposia), Heidelberg, Almanya, 12 - 15 Temmuz 2017

LGMD2R fenotipine MST1/2 kinaz inhibitörünün etkisi

14. Ulusal Tıbbi Genetik Kongresi, Ankara, Türkiye, 20 - 22 Kasım 2020, ss.56

Cells lacking LAP1B are defective in withdrawal from the cell cycle during myogenic differentiation.

XVI. Congress of the Medical Biology and Genetics Society of Turkey, Muğla, Türkiye, 27 Ekim 2019, ss.5

Intramuscular drug application in zebrafish

Moleküler Biyoloji Derneği 7.Uluslararası Kongresi, İstanbul, Türkiye, 27 Eylül 2019

Hacettepe University Zebrafish Research Laboratory: Rare diseases modeling in zebrafish by using genome editing tools

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.987 identifier

Analysing the expression profiles of human DES orthologous desma and desmb by using knockout zebrafish models

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.618 identifier

Modeling of a unique desmin mutation in zebrafish by using genome editing brings new insights into desmin function

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.427 identifier

Myogenic Differentiation and Fusion Defects in Myoblasts Lacking LAP1B

6th International Congress of the Molecular Biology Association of Turkey, İzmir, Türkiye, 05 Eylül 2018, cilt.1, ss.162

Disease Modeling in Zebrafish: Limb-Girdle MuscularDystrophy 2R

6th International Congress of the Molecular Biology Association of Turkey, Türkiye, 5 - 08 Eylül 2018, ss.5-6

LGMD2R disease modeling in zebrafish by genome editing tools

Mammalian Genetics and Genomics: From Molecular Mechanisms to Translational Applications, Heidelberg, Almanya, 24 - 27 Ekim 2017

In vivo targeted mutagenesis via CRISPR/Cas9 and TALEN in zebrafish enables rapid screening of candidate rare diseases genes

42nd Congress of the Federation-of-European-Biochemical-Societies (FEBS) on From Molecules to Cells and Back, Jerusalem, İsrail, 10 - 14 Eylül 2017, cilt.284, ss.171 identifier

Desmin Mutation with an ultra rare and unique phenotype: Genome editing for a patient specific zebrafish model

keystone symposia Rare and Undiagnosed Diseases, Massachusetts, Amerika Birleşik Devletleri, 3 - 05 Ağustos 2017

Co-expression Network of a Rare Disease: Significant Genes in Dysferlinopathy and Functional Prediction of TOR1AIP1

Rare and Undiagnosed Diseases: Discovery and Models of Precision Therapy (Keystone Symposia), Massachusetts, Amerika Birleşik Devletleri, 3 - 08 Mayıs 2017

Hacettepe University Zebrafish Research Laboratory: zebrafish disease modeling by genome editing tools

41st FEBS Congress on Molecular and Systems Biology for a Better Life, Kusadasi, Türkiye, 3 - 08 Eylül 2016, cilt.283, ss.116 identifier

Çekirdek zarfı hastalıkları ile ilişkili yeni bir gen: TOR1AIP1 ve kas distrofisi

14. Ulusal Tıbbi Biyoloji ve Genetik Kongresi, Muğla, Türkiye, 27 Ekim 2015, ss.23

Histopathological characteristics of muscular dystrophy caused by mutation in the nuclear envelope protein LAP1B

7th UK Conference on the Nuclear Envelope in Disease and Chromatin Organization, Sheffield, İngiltere, 22 Haziran 2015

A Novel Nuclear Envelopathy-Related Gene: Mutation İn Tor1aip1 Encoding Lap1b Causes Muscular Dystrophy

Türkiye Moleküler Biyoloji Derneği 3. Uluslararasi Kongresi, İzmir, Türkiye, 11 Eylül 2014, ss.15

Reduction of LARGE expression in different types of muscular dystrophies other than dystroglycanopathy

18th International Congress of the World-Muscle-Society (WMS), California, Amerika Birleşik Devletleri, 1 - 05 Ekim 2013, cilt.23, ss.780 identifier

A novel desmin mutation causes autosomal recessive limb girdle muscular dystrophy without features of myofibrillar myopathy

18th International Congress of the World-Muscle-Society (WMS), California, Amerika Birleşik Devletleri, 1 - 05 Ekim 2013, cilt.23, ss.851-852 identifier

Inflammatory effect of AbetaPP induced ST6Gal1 secretion from myogenic cell line

16th International Congress of the World-Muscle-Society, Algarve, Portekiz, 18 - 22 Ekim 2011, cilt.21, ss.746 identifier

Mutation screening of CAPN3 gene in 13 Turkish LGMD2A patients

12th International Congress of the World-Muscle-Society, Giardini Naxos, İtalya, 17 - 20 Ekim 2007, cilt.17, ss.791 identifier

Limb-girdle muscular dystrophy and mental retardation (LGMD2M) has a heterogeneous background

11th International Congress of the World-Muscle-Society, Bruges, Belçika, 4 - 07 Ekim 2006, cilt.16, ss.679-680 identifier

The first successful prenatal diagnosis in two different forms of muscular dystrophies: MEB and LGMD2M

11th International Congress of the World-Muscle-Society, Bruges, Belçika, 4 - 07 Ekim 2006, cilt.16, ss.678-679 identifier

Autosomal recessive limb-girdle muscular dystrophies (LGMD2s) in Turkey

11th International Congress on Neuromuscular Diseases, İstanbul, Türkiye, 2 - 07 Temmuz 2006, cilt.16 identifier

Consanguinity and neuromuscular disorders in Turkey

11th International Congress on Neuromuscular Diseases, İstanbul, Türkiye, 2 - 07 Temmuz 2006, cilt.16 identifier

The first prenatal diagnosis in Muscle-Eye-Brain Disease

11th International Congress on Neuromuscular Diseases, İstanbul, Türkiye, 2 - 07 Temmuz 2006, cilt.16 identifier

Muscle pathology in childhood cases of calpainopathy

9th International Congress of the World-Muscle-Society, Goteborg, İsveç, 1 - 04 Eylül 2004, cilt.14, ss.605 identifier

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