Araştırmacı Volkan KARAMAN

Yayın Ağı

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

A Rare Inherited Bone Marrow Failure Syndrome Disclosed by Reanalysis of the Exome Data of a Patient Evaluated for Cytopenia and Dysmorphic Features.

Durmaz D., Aslanger A. D., Yavas Abali Z., Yilmaz Y., Karaman V., Yesil Sayin G., et al.

Journal of pediatric hematology/oncology , cilt.46, sa.3, 2024 (SCI-Expanded)

Novel variants ensued genomic imprinting in familial central precocious puberty.

Karaman V., Karakilic-Ozturan E., Poyrazoglu Ş., Gelmez M. Y., Bas F., Darendeliler F., et al.

Journal of endocrinological investigation , 2024 (SCI-Expanded)

Phenotype-genotype correlations of GH1 gene variants in patients with isolated growth hormone deficiency (IGHD) or multiple pituitary hormone deficiency (MPHD)

Öztürk A. P., Abali Z. Y., Aslanger A. D., Baş F., Toksoy G., Karaman V., et al.

HORMONE RESEARCH IN PAEDIATRICS , 2023 (SCI-Expanded) Sürdürülebilir Kalkınma

Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of du Pan Syndrome

Turgut G. T., Kalelioglu I. H., Karaman V., Sivrikoz T. S., Karaman B., Uyguner Z. O., et al.

Molecular Syndromology , cilt.14, sa.2, ss.152-157, 2023 (SCI-Expanded)

Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis

Saraç Sivrikoz T., Kalayci T., Senturk L., Karaman V., Kalelioglu I. H., Has R., et al.

PRENATAL DIAGNOSIS , cilt.42, sa.12, ss.1503-1510, 2022 (SCI-Expanded)

Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.

Yılmaz Gulec E., Turgut G. T., Gezdırıcı A., Karaman V., Ozturk F. N., Avcı S., et al.

Clinical genetics , cilt.102, sa.3, ss.201-217, 2022 (SCI-Expanded)

Investigation of Genes Associated with Multiple Pituitary Hormone Deficiencies <i>via</i> Next Generation Sequencing Technology

ÖZTÜRK A. P., TOKSOY G., BAŞ F., Abali Z. Y., Bagirova G., KARAMAN V., et al.

HORMONE RESEARCH IN PAEDIATRICS , sa.SUPPL 2, ss.91-92, 2022 (SCI-Expanded)

Evaluation of Genetic Etiology in Children Born Small for Gestational Age with Persistent Short Stature: Preliminary Results

Ozturk A. P., Aslanger A., Ozturan E. K., Konur E. N., Gulec C., Karaman V., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.95, sa.SUPPL 2, ss.313, 2022 (SCI-Expanded)

A cause of familial central precocious puberty: A Novel variant in the DLK1 gene and low serum DLK1 levels

Ozturan E. K., Karaman V., Gelmez M. Y., Yildiz M., Poyrazoglu S., Bas F., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.95, sa.SUPPL 2, ss.351, 2022 (SCI-Expanded)

Evaluation of Early Puberty in Patients with MC2R Deficiency

Ozturan E. K., Bas F., Abali Z. Y., Karaman V., Poyrazoglu S., Uyguner Z. O., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.95, sa.SUPPL 2, ss.354, 2022 (SCI-Expanded)

Ovarian and paraovarian adrenal rest tumors are not uncommon in gonadectomy materials of historical congenital adrenal hyperplasia cases in childhood

Yildiz M., Bayram A., BAŞ F., Karaman V., TOKSOY G., Poyrazoglu Ş., et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY , cilt.187, sa.1, 2022 (SCI-Expanded)

Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD.

Akcan N., Uyguner Z. O., Bas F., Altunoglu U., Toksoy G., Karaman B., et al.

Journal of clinical research in pediatric endocrinology , cilt.14, sa.2, ss.153-171, 2022 (SCI-Expanded)

Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD

Akcan N., Uyguner O., Bas F., Altunoglu U., Toksoy G., Karaman B., et al.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , cilt.14, sa.2, ss.153-171, 2022 (SCI-Expanded)

Sequence of MKRN3 and DLK1 genes in cases with familial central precocious puberty

Karaman V., Karakilic-Ozturan E., Bas F., Poyrazoglu S., Basaran S., Darendeliler F., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.94, sa.SUPPL 1, ss.167-168, 2021 (SCI-Expanded)

Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey

Berkay E. G., Elkanova L., Kalayci T., ULUDAĞ ALKAYA D., Altunoglu U., Cefle K., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.185, sa.8, ss.2488-2495, 2021 (SCI-Expanded)

Two cases with central precocious puberty caused by paternally inherited novel variants in DLK1gene

Karaman V., Ozturan E. K., Bas F., Başaran S., Uyguner Z. O.

EUROPEAN JOURNAL OF HUMAN GENETICS , sa.SUPPL 1, ss.213, 2020 (SCI-Expanded)

Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.

Baş F., Toksoy G., Ergun-Longmire B., Uyguner Z. O., Abalı Z., Poyrazoğlu Ş., et al.

The Journal of steroid biochemistry and molecular biology , cilt.181, ss.88-97, 2018 (SCI-Expanded)

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

Gelincik A., Demir S., Olgac M., Karaman V., Toksoy G., Colakoglu B., et al.

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology , cilt.114, sa.2, ss.154-6, 2015 (SCI-Expanded)

NOVEL NLRP7 MUTATIONS IN FAMILIAL RECURRENT HYDATIDIFORM MOLES: ARE NLRP7 MUTATIONS AT THE SAME TIME A RISK FOR RECURRENT REPRODUCTIVE WASTAGE?

Ulker V., Gurkan H., Tozkir H., Karaman V., Ozgur H., Numanoglu C., et al.

INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER , sa.8, 2013 (SCI-Expanded)

Novel NLRP7 mutations in familial recurrent hydatidiform mole: are NLRP7 mutations a risk for recurrent reproductive wastage?

Ülker V., Gurkan H., Tozkir H., Karaman V., Ozgur H., Numanoğlu C., et al.

EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY , cilt.170, sa.1, ss.188-192, 2013 (SCI-Expanded) Sürdürülebilir Kalkınma

Diğer Dergilerde Yayınlanan Makaleler

JAG1 MUTATION SPECTRUM IN CASES WITH ALAGILLE SYNDROME FROM TURKIYE

Aslanger A. D., Yildirim B. T., Kalayci T., Şentürk L., Avci Ş., Altunoğlu U., et al.

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI , cilt.86, sa.4, ss.327-335, 2023 (ESCI)

Clinical and Molecular Findings of Nine Cases with Tay- Sachs Disease From Turkiye

ASLANGER A. D., GÜLEÇ Ç., KALAYCI T., Sengenc E., Avci S., Altunoglu U., et al.

MEDICAL JOURNAL OF BAKIRKOY , cilt.19, sa.2, ss.222-228, 2023 (ESCI)

CLINICAL AND MOLECULAR RESULTS OF SIX CASES WITH ROBERTS SYNDROME: REVIEW OF CASES FROM TURKIYE

Aslanger A. D., Kalaycı T., Konur E. N., Güleç Ç., Avcı Ş., Altunoğlu U., et al.

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI , cilt.85, sa.4, ss.501-510, 2022 (Scopus)

GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS' SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION

Gulec C., Aslanger A. D., Karaman V., Wollnik B., Tepgec F., Karabey H. K., et al.

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI , cilt.85, ss.162-169, 2022 (ESCI)

Association between HBA locus copy number gains and pathogenic HBB gene variants

Toksoy G., Akay N., Aghayev A., Karaman V., Avcı Ş., Kalaycı T., et al.

INTERNATIONAL JOURNAL OF MEDICAL BIOCHEMISTRY , cilt.4, sa.2, ss.91-95, 2021 (Hakemli Dergi)

Association of HBA gene copy number gains with pathogenic HBB gene variants

Toksoy G., Akay N., Aghayev A., Karaman V., Avcı Ş., Kalaycı T., et al.

International Journal of Medical Biochemistry , cilt.4, sa.2, ss.91-96, 2021 (Hakemli Dergi)

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

Karaman V., Toksoy G., Karaman B., Kayserili Karabey H., Basaran S., Altunoglu U., et al.

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI , cilt.82, sa.2, ss.116-122, 2019 (ESCI)

SENDROMİK VE NON-SENDROMİK KRANİYOSİNOSTOZ OLGULARINDA FGFR1-3, TWIST1, MSX2, POR, FREM1 VE RAB23 GENLERİNİN MOLEKÜLER ANALİZİ

Karaman V., TOKSOY G., KARAMAN B., KAYSERİLİ KARABEY H., BAŞARAN S., ALTUNOĞLU U., et al.

İSTANBUL TIP FAKÜLTESİ DERGİSİ , cilt.82, sa.2, ss.9-10, 2019 (Hakemli Dergi)

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

PIEZO1 İlişkili Dehidrate Herediter Stomasitoz-Herediter Kserositoz: Olgu Sunumu

Konur E. N., Aslanger A. D., Ocak S., Karaman V., Uyguner Z. O., Yeşil Sayın G.

2. Ulusal HematoOnkoGenetik Kongresi , Gazimagusa, Kıbrıs (Kktc), 4 - 07 Mayıs 2023, ss.90 Sürdürülebilir Kalkınma

Lenfoproliferatif Hastalıklarda Ayırıcı Tanıda Düşünülmesi Gereken Nadir Bir Sendrom: RAS İlişkili Otoimmün Lökoproliferatif Hastalık

Yıldırım B. T., Akbaş S., Aslanger A. D., Karaman V., Yılmaz Y., Karaman S., et al.

2. Uluslararası Katılımlı Ulusal HematoOnkoGenetik Kongresi, Gazimagusa, Kıbrıs (Kktc), 4 - 07 Mayıs 2023, ss.111

Osteogenezis Imperfekta Tanılı 15 Olgunun Moleküler Sonuçları

Hacer Ö., Aslanger A. D., Kalaycı T., Güleç Ç., Demir K., Toksoy G., et al.

15. Ulusal Tıbbi Genetik Kongresi, Muğla, Türkiye, 09 Kasım 2022, ss.149

Frank-Ter Haar Sendromu Tanili 3 Olgu ve Literatür Derlemesi

Konur E. N., Aslanger A. D., Kalaycı T., Altunoğlu U., Karaman V., Yeşil Sayın G., et al.

15. Ulusal Tıbbi Genetik Kongresi, Muğla, Türkiye, 09 Kasım 2022, ss.91

Gebelik Haftasına Göre Küçük Doğan (Sga) Çocuklarda Sebat Eden Boy Kısalığının Etiyolojisinin Genetik Analizler Ile Değerlendirilmesi

Karaman V., Aslanger A. D., Konur E. N., Öztürk A. P., Toksoy G., Özsait Selçuk B. Ş., et al.

15.ULUSLARARASI KATILIMLI, ULUSAL TIBBİ GENETİK KONGRESİ, Muğla, Türkiye, 9 - 13 Kasım 2022, ss.189

Investigation of Genes Associated with Multiple Pituitary Hormone Deficiencies via Next Generation Sequencing Technology

ÖZTÜRK A. P., TOKSOY G., BAŞ F., YAVAŞ ABALI Z., Bagirova G., KARAMAN V., et al.

60th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Roma, İtalya, 15 Eylül 2022

Çoğul Hipofiz Hormon Eksikliklerinde İlişkili Genlerin Yeni Nesil Dizileme Teknolojisi İle Araştırılması

ÖZTÜRK A. P., TOKSOY G., BAŞ F., YAVAŞ ABALI Z., KARAMAN V., YILDIZ M., et al.

XXV. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Türkiye, 06 Ekim 2021

MECP2 Spektrumundan Etkilenmiş 27 Olgunun Klinik ve Moleküler Bulguları

Kalaycı T., Aslanger A. D., Altunoğlu U., Toksoy G., Konur E. N., Avcı Ş., et al.

14. TIBBİ GENETİK KONGRESİ, 20 - 22 Aralık 2020, cilt.31, sa.4, ss.53

Alport sendromlu 15 olgunun klinik ve moleküler bulguları

Aslanger A. D., Yürük Yıldırım Z. N., Toksoy G., Aksu B., Durmaz D., Göksu Çetinkaya A. P., et al.

14. TIBBİ GENETİK KONGRESİ, İstanbul, Türkiye, 20 - 22 Aralık 2020, cilt.31, sa.4, ss.49

Ailevi Erken Puberte Olgularında MKRN3 ve DLK1 Genlerinin Dizilenmesi

Karaman V., Karakılıç Özturan E., Baş F., Poyrazoğlu Ş., Başaran S., Darendeliler F. F., et al.

XXIV. Ulusal Pediatrik Endokrinoloji ve Diyabet Çevrimiçi Kongresi , 30 Ekim - 01 Kasım 2020, ss.12

Analysis ofRUNX2mutations in four Turkish patients with Cleidocranial Dysplasia

Mihci E., Guzel B. N., Toylu A., Karaman V., Aghayev A. R., Uyguner Z. O.

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, ss.350-351

Spectrum of Skeletal Abnormalities and Pathogenic RUNX2 Variants in 50 CleidocranialPatients from Turkey

Berkay E. G., Elkanova L., Kalaycı T., Karaman V., GÜNEŞ N., Toksoy G., et al.

13th Balkan Congress of Human Genetics, 17 - 20 Nisan 2019

S-29 - Spectrum of Skeletal Abnormalities and Pathogenic RUNX2 Variants in 50 CleidocranialPatients from Turkey

BERKAY E. G., ELKANOVA L., KALAYCI T., KARAMAN V., GÜNEŞ N., TOKSOY G., et al.

13TH BALKAN CONGRESS OF HUMAN GENETICS, 17 - 20 Nisan 2019

Novel FGFR2 variant in a Case with Crouzon Syndrome

Karaman V., Kalaycı T., Başaran S., Pempegül Yıldız E., Altunoğlu U., Uyguner Z. O.

Balkan Congress of Human Genetics, Edirne, Türkiye, 17 - 20 Nisan 2019, cilt.22, ss.209

Clinical features and genetic analyses of type III hereditary angioedema patients

Gelincik A., Unal D., Demirturk M., Olgac M., Demir S., Toksoy G., et al.

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

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

Toksoy G., Karakaş Z., Kayserili Karabay H., Karaman V., Başaran S., Uyguner Z. O.

European Human Genetics Conference 2014, Milan, İtalya, 31 Mayıs - 03 Haziran 2014, cilt.22, sa.1, ss.140

Molecular Diagnostic Algorithm of Syndromic Craniosynostosis

Karaman V., Toksoy G., Avcı Ş., Karaman B., Altunoğlu U., Başaran S., et al.

European Human Genetics. Conference 2014, Milan, İtalya, 31 Mayıs - 03 Haziran 2014, cilt.22, sa.1, ss.215

Tip III Herediter Anjiödem Hastalarının Klinik ve Genetik Özelliklerinin Analizi

GELİNCİK A., ÜNAL D., DEMİRTÜRK M., OLGAÇ M., DEMİR S., TOKSOY G., et al.

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

The first case diagnosed as both type III hereditary angioedema and familial Mediterranean fever

Buyukozturk S., Gelincik a., Demirturk M., Unal D., Colakoglu B., Uyguner Z., et al.

World Allergy and Asthma Congress of the European-Academy-of-Allergy-and-Clinical-Immunology and World-Allergy-Organization, Milan, İtalya, 22 - 26 Haziran 2013, cilt.68, ss.250