Dr. Öğr. Üyesi ŞULE ALTINER

Yayın Ağı

Makaleler 34

1. TAP1 Deficiency Masquerading as Granulomatosis With Polyangiitis: A Case Report Highlighting the Importance of Genetic Evaluation in Atypical Presentations

AKAY B. N., GÜRPINAR KILIÇ S., ALTINER Ş., HEPER A., KUNDAKCI N.

INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES , cilt.29, sa.3, 2026 (SCI-Expanded, Scopus)

2. Delayed diagnosis of Townes-Brocks syndrome accompanied with kidney failure.

Ürkmez M. F., Kumru G., Mutlu Ş. Ş., Sarıtaş H., Şengül Ş., Keven K., et al.

CEN case reports , cilt.15, sa.1, ss.15, 2026 (ESCI, Scopus)

3. Genotype-Phenotype Associations in a Robust Cohort of 69 Xeroderma Pigmentosum Patients across Türkiye: A Multicenter Study.

Baskurt D., Altıner Ş., Atcı T., Akay B. N., Duman N., Engin B., et al.

The British journal of dermatology , 2026 (SCI-Expanded, Scopus)

4. Vitiligo in Xeroderma Pigmentosum: A Protective Phenomenon Against Skin Cancer?

Aydemir A. T., Altiner Ş., Akay B. N.

Photodermatology, photoimmunology & photomedicine , cilt.42, sa.1, 2026 (SCI-Expanded, Scopus)

5. Association between OX40L rs1234314 and rs844648 polymorphisms and unexplained recurrent pregnancy loss

Taşdelen E., Kutlay N. Y., Kaplan İ., ALTINER Ş., Alay M. T.

Molecular Biology Reports , cilt.52, sa.1, 2025 (SCI-Expanded, Scopus)

6. Coexistence of Mosaic Marker Chromosome and Isodisomy 1 in Reproductive Failure: A Cytogenomic Case Report and Review of the Literature

EKİNCİ S., Aydin E., ALTINER Ş.

CYTOGENETIC AND GENOME RESEARCH , 2025 (SCI-Expanded, Scopus)

7. UV-induced fluorescence dermatoscopy in a case of porokeratosis ptychotropica

AKAY B. N., ÖZTÜRK G. N., ALTINER Ş., ŞANLI H.

JDDG - Journal of the German Society of Dermatology , cilt.23, sa.4, ss.520-522, 2025 (SCI-Expanded, Scopus)

8. Molecular and Clinical Overview of Type 1 Neurofibromatosis: Single Center Study and Mini Review on NF1-Associated Vasculopathy and Juvenile Myelomonocytic Leukemia

Altıner Ş., Çebi A. H.

GAZI MEDICAL JOURNAL , cilt.35, sa.4, ss.422-432, 2024 (ESCI, Scopus)

9. KLİNİK,GENETİK,HİSTOPATOLOJİK VE DERMOSKOPİK BULGULARI İLE BİLATERAL YÜZ YERLEŞİMLİ İZOLE MULTİPL KUTANÖZ ANJİYOFİBROM OLGUSU

Çetinarslan T., Üstüntaş R., Altıner Ş., Türel Ermertcan A., Temiz P., Şahin M. T.

Türkiye Klinikleri Dermatoloji Dergisi , cilt.34, sa.3, ss.117-121, 2024 (Scopus)

10. A novel mutation in a patient with KIDAR syndrome: tenth patient in the literature

ALTINER Ş., Yurtdas K., DOĞULU N., KÖSE E., EMİNOĞLU F. T., KARABULUT H. G.

EUROPEAN JOURNAL OF HUMAN GENETICS , ss.238, 2023 (SCI-Expanded, Scopus)

11. Perception and management of cancer predisposition in pediatric cancer centers: A European-wide questionnaire-based survey

Lazic J., Haas O. A., Özbek U., Ripperger T., Byrjalsen A., te Kronnie G., et al.

PEDIATRIC BLOOD & CANCER , cilt.70, sa.5, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

12. Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.

Kiraz A., Sezer O., ALEMDAR A., Canbek S., Duman N., BİŞGİN A., et al.

Journal of medical virology , cilt.95, sa.2, 2023 (SCI-Expanded, Scopus)

13. Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey

BİŞGİN A., ÖZEMRİ SAĞ Ş., DOĞAN M. E., Yildirim M. S., Gumus A. A., Akkus N., et al.

BREAST , cilt.65, ss.15-22, 2022 (SCI-Expanded, Scopus)

14. Genotype/Phenotype Correlation of Cases with PTPN11 Gene Mutation: Eastern Black Sea Experience

ALTINER Ş., ÇEBİ A. H., ÇELİK S., GÖKCÜ M.

Ankara Üniversitesi Tıp Fakültesi Mecmuası , cilt.75, sa.3, ss.368-372, 2022 (TRDizin)

15. **Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS)**

Ili E., Tasdelen E., Durmaz C. D., ALTINER Ş., TUNCALI T., Martinez-Glez V., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.188, sa.6, ss.1792-1800, 2022 (SCI-Expanded, Scopus)

16. Clinical findings in 22q11.2 microdeletion syndrome: case series

ALTINER Ş., TUNCALI T., KUTLAY N., KARABULUT H. G., ILGIN RUHİ H.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.30, sa.SUPPL 1, ss.325, 2022 (SCI-Expanded, Scopus)

17. Genetic diagnosis of maturity-onset diabetes of the young (MODY) in northeast Turkey

ALTINER Ş., ÇELİK S., YARAR M. H., ÇEBİ A. H.

İnönü Üniversitesi Tıp Fakültesi Dergisi , cilt.29, sa.4, ss.325-328, 2022 (TRDizin)

18. A Paternal "Balanced" Chromosome 2 and 4 Translocation with Chromosome 21q Insertion Leading to Duplication of 2q22.1q24.1 in Two Siblings

Gökoğlu M., Kutlay N., Altıner Ş.

, sa.162, ss.297-305, 2022 (SCI-Expanded)

19. Genotype Phenotype Correlation of A Case Having Chromosome 3 Imbalance

Taşdelen E., Gökpınar İli E., Altıner Ş., Ceylan A. C., Tuncalı T.

Ankara Üniversitesi Tıp Fakültesi Mecmuası , cilt.74, sa.3, ss.365-369, 2021 (TRDizin)

20. Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency

Durmaz C. D., ALTINER Ş., Tasdelen E., KARABULUT H. G., ILGIN RUHİ H.

FETAL AND PEDIATRIC PATHOLOGY , cilt.40, sa.5, ss.486-492, 2021 (SCI-Expanded, Scopus)

21. Molecular Testing for Thalassemia: Mutation Detection According to Referral Reasons and Demographic Data

ALTINER Ş., KARABULUT H. G., EKİNCİ S., Vicdan A., KUTLAY N., TUNCALI T., et al.

ERCIYES MEDICAL JOURNAL , cilt.43, sa.5, ss.449-451, 2021 (ESCI, TRDizin)

22. MASP1-related 3MC syndrome in a patient from Turkey

Durmaz C. D., Altiner Ş.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.185, sa.7, ss.2267-2270, 2021 (SCI-Expanded, Scopus)

23. **Severe skin fragility with postnatal lethal outcome due to a biallelic KRT5 mutation**

Altiner Ş., Hekimoglu B., Livaoglu A., Has C.

JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT , cilt.19, sa.3, ss.440-442, 2021 (SCI-Expanded, Scopus)

24. **Application of Chromosome Microarray Analysis in the Investigation of Developmental Disabilities and Congenital Anomalies: Single Center Experience and Review of NRXN3 and NEDD4L Deletions**

ÇEBİ A. H., Altiner Ş.

MOLECULAR SYNDROMOLOGY , sa.4, ss.197-206, 2020 (SCI-Expanded, Scopus)

25. Genetic analysis of BCR-ABL negative chronic myeloproliferative diseases at initial diagnosis and their clinical effects

UYSAL A., ALTINER Ş., ÇELİK S., UYSAL S., ÇEBİ A. H.

CUKUROVA MEDICAL JOURNAL , cilt.45, sa.3, ss.933-939, 2020 (ESCI, TRDizin)

26. Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer

ALTINER Ş., KUTLAY N., ILGIN RUHİ H.

CYTOGENETIC AND GENOME RESEARCH , cilt.160, sa.1, ss.11-17, 2020 (SCI-Expanded, Scopus)

27. Extending the Phenotypic Spectrum of Huntington Disease: Hypothermia

Altiner Ş., Ardic S., ÇEBİ A. H.

MOLECULAR SYNDROMOLOGY , cilt.11, sa.1, ss.56-58, 2020 (SCI-Expanded, Scopus)

28. A Novel Atrx Mutation Presenting with Intellectual Disability and Severe Kyphoscoliosis

Altiner Ş., Raymond L.

FETAL AND PEDIATRIC PATHOLOGY , cilt.39, sa.6, ss.539-543, 2020 (SCI-Expanded, Scopus)

29. Cytogenetic, Molecular, and Phenotypic Characterization of a Patient with de novo Derivative Chromosome 18 and Review of the Literature

Gokpinar E., Altiner Ş., KARABULUT H. G.

CYTOGENETIC AND GENOME RESEARCH , sa.2, ss.74-80, 2019 (SCI-Expanded, Scopus)

30. Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation

Altiner Ş., KUTLAY N.

MOLECULAR CYTOGENETICS , 2019 (SCI-Expanded, SSCI, Scopus)

31. A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome

ALTINER Ş., KARABULUT H. G., Yararbas K., Tukun A., Collet C., Kocaay P., et al.

CLINICAL DYSMORPHOLOGY , cilt.26, sa.3, ss.175-178, 2017 (SCI-Expanded, Scopus)

32. Type I plasminogen deficiency with unexpected clinical aspects: Could be more than coexistence?

Altıner Ş., Klammt J., Bernhard M., Schuster V., KARABULUT H. G.

COGENT MEDICINE , cilt.4, 2017 (Hakemli Dergi)

33. Prognostic impact of RUNX1 and ETV6 gene copy number on pediatric B-cell precursor acute lymphoblastic leukemia with or without hyperdiploidy

KUTLAY N., Pekpak E., ALTINER Ş., İLERİ D. T., Vicdan A. N., DİNÇASLAN H., et al.

INTERNATIONAL JOURNAL OF HEMATOLOGY , cilt.104, sa.3, ss.368-377, 2016 (SCI-Expanded, Scopus)

34. Constitutional Trisomy 8 Mosaicism with Persistent Macrocytosis

ALTINER Ş., KUTLAY N., İLHAN O.

CYTOGENETIC AND GENOME RESEARCH , cilt.150, sa.1, ss.35-39, 2016 (SCI-Expanded, Scopus)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 23

1. Kronik Lenfositik Lösemi Hastalarında Ighv Somatik Hipermutasyon Profili: Tek Merkez Deneyimi

İLBASMIŞ H., ALTINER Ş., TUNCALI T., KUTLAY N., KARABULUT H. G., EKİNCİ S., et al.

3. Ulusal HematoOnkoGenetik Kongresi, Antalya, Türkiye, 27 - 30 Ekim 2025, (Özet Bildiri)

2. Kompleks Karyotipli Hematolojik Malignitelerin Sitogenetik Profili: Türkiye'den Tek Merkez Deneyimi

Altıner Ş., Vicdan N. A., Kutlay N., Tuncalı T., Karabulut H. G., Ilgın Ruhi H.

ECA -15th European Cytogenomics Conference, Leuven, Belçika, 29 Haziran - 01 Temmuz 2025, cilt.56, sa.56, ss.24, (Özet Bildiri)

3. BRCA1 and BRCA2 Germline Sequence Analysis Data: A Single-Center Experience

LEBLEBİCİ C. B., KUTLAY N., ILGIN RUHİ H., TUNCALI T., KARABULUT H. G., EKİNCİ S., et al.

International hereditary cancer congress, Antalya, Türkiye, 6 - 09 Şubat 2025, (Özet Bildiri)

4. Not only a movement disorder: Huntington’s disease with atypical presentation in premorbid stage

İlhan R. S., Keser E., Altıner Ş., Araz M., Duman B., Saka M. C.

37th ECNP Congress 2024, Milan, İtalya, 21 - 24 Ekim 2024, cilt.2, sa.3, ss.13-14, (Özet Bildiri)

5. Evaluation of the results of cytogenetic, molecular cytogenetic and molecular analysis in non-Hodgkin lymphoma

LEBLEBİCİ C. B., KUTLAY N., VİCDAN N. A., EKİNCİ S., ILGIN RUHİ H., TUNCALI T., et al.

ESHG Conference Berlin 1-4 June 2024, Berlin, Almanya, 1 Haziran - 01 Nisan 2024, (Özet Bildiri)

6. Could VUS be important in AML?

KUTLAY N., KARABULUT H. G., TUNCALI T., ILGIN RUHİ H., EKİNCİ S., ALTINER Ş., et al.

ESHG Conference Berlin 1-4 June 2024, Berlin, Almanya, 01 Haziran 2024, cilt.32, ss.923, (Özet Bildiri)

7. Long overdue diagnosis for Turner syndrome: evaluation of two cases

Ilgın Ruhi H., Durmaz C. D., Leblebici C. B., Altıner Ş.

56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, İngiltere, 10 - 13 Haziran 2023, ss.245-246, (Özet Bildiri)

8. A rare initial presentation of Li-Fraumeni syndrome: mesothelioma

Leblebici C. B., Altıner Ş., Karabulut H. G., Serbes E., Savaş B., Unal E. C.

56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, İngiltere, 10 - 13 Haziran 2023, ss.592-593, (Özet Bildiri)

9. A GHOSAL HEMATODIAPHYSEAL DYSPLASIA CASE; EXCELLENT RESPONSE TO NON-STEROIDAL ANTI-INFLAMATORY DRUG TREATMENT

ÇAKMAKLI H. F., MUTLU H., ALTINER Ş., AYDIN F., İLERİ D. T., İNCE E., et al.

14th Eurasian Hematology Oncology Congress, İstanbul, Türkiye, 13 - 14 Ekim 2023, cilt.45, sa.3, ss.23-24, (Tam Metin Bildiri) Sürdürülebilir Kalkınma

10. Yetişkin Akut Miyeloid Lösemi/Miyelodisplastik Sendrom Hastalarında Konvansiyonel Sitogenetik İncelemenin Kompleks Karyotip Saptamadaki Gücü

Altıner Ş., Vicdan N. A., Kutlay N., Tuncalı T., Karabulut H. G., Ilgın Ruhi H.

15.Uulsal Tıbbi Genetik Kongresi, Muğla, Türkiye, 9 - 13 Kasım 2022, ss.102-103, (Özet Bildiri)

11. Beaulieu-Boycott-Innes Sendromu: İki Olgu Sunumu

Özbolat S., Yurtdaş A. K., Sevim B., Altıner Ş., Mutlu H., Havan M., et al.

15. ULUSAL TIBBİ GENETİK KONGRESİ, Muğla, Türkiye, 9 - 13 Kasım 2022, ss.151, (Özet Bildiri)

12. Cytogenetic evaluation in myelodysplastic syndrome

LEBLEBİCİ C. B., ALTINER Ş., VİCDAN N. A., KUTLAY N., TUNCALI T., KARABULUT H. G., et al.

European Human Genetics Conference, Viyana, Avusturya, 11 - 14 Haziran 2022, (Özet Bildiri)

13. A novel mutation in a patient with KIDAR syndrome: tenth patient in the literature

ALTINER Ş., YURTDAŞ A. K., DOĞULU N., KÖSE E., EMİNOĞLU F. T., KARABULUT H. G.

European Human Genetics Conference, Viyana, Avusturya, 11 - 14 Haziran 2022, (Özet Bildiri)

14. A case of PTEN hamartoma tumor syndrome; a family study

Ilgın Ruhi H., Gökpınar İli E., Güleray Lafcı N., Taşdelen E., Altıner Ş.

54th European Society of Human Genetics (ESHG) Conference, 28 - 31 Ağustos 2021, ss.424-425, (Özet Bildiri)

15. Evaluation of Plasma Cell Molecular Cytogenetic Findings of Myeloma Patients: One-Year Single-Center Experience

KAPLAN İ., CESUR BALTACI H. N., ALTINER Ş., EKİNCİ S., VİCDAN N. A., KARABULUT H. G., et al.

ESHG 2021, 28 Ağustos 2022, ss.413, (Özet Bildiri)

16. Familyal Adenomatöz Polipozis’de Genetik Test Ve Danışmanın Önemi: Bir Aile Örneği

Altıner Ş., Tuncalı T.

1. Ulusal Hemotoonkogenetik kongresi, Antalya, Türkiye, 25 - 28 Kasım 2021, (Özet Bildiri)

17. Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey

BİŞGİN A., ÖZEMRİ SAĞ Ş., DOĞAN M. E., YILDIRIM M. S., AYDIN GÜMÜŞ A., AKKUŞ N., et al.

Annual Meeting of American Association of Human Genetics 2021, Amerika Birleşik Devletleri, 18 Ekim 2021, (Özet Bildiri)

18. Clinical findings in 22q11.2 microdeletion syndrome: case series

ALTINER Ş., TUNCALI T., KUTLAY N., KARABULUT H. G., ILGIN RUHİ H.

European Human Genetics Virtual Conference, 28 - 31 Ağustos 2021, (Özet Bildiri)

19. A case with complex small supernumerary marker chromosome consisting 19p and 22q.

ALTINER Ş., KUTLAY N.

European Human Genetics Conference, Berlin, Almanya, 6 - 09 Haziran 2020, (Özet Bildiri)

20. Basal Cell Nevus Syndrome: A Case With 9Q22.3 Microdeletion

ALTINER Ş., ÇEBİ A. H.

1st Bursa International Genetics Days: Dermatogenetics Symposium, 09 Ocak 2020, (Özet Bildiri)

21. Investigation of TBP gene mutations in patients with Huntington Disease phenotype

GÖKOĞLU M., KARABULUT H. G., TÜREDİ Ö., ALTINER Ş., DURMAZ C. D., GÖKPINAR E., et al.

The European Human Genetics Conference2016, Barselona, İspanya, 21 - 24 Mayıs 2016, (Özet Bildiri)

22. Partial trisomy 22q12 1 and monosomy 13q12 1 in a child due to maternal t 13 22 q12 1 q12 1

Altıner Ş., KUTLAY N., tos t., TUNCALI T.

The European Human Genetics Conference 2016, Barselona, İspanya, 21 - 24 Mayıs 2016, (Özet Bildiri)

23. Huntington s disease mimicking bipolar disorder a case report

HosgorenAlici Y., Ozel Kızıl E. T., Kırıcı S., BİLGİN B., BİÇER Ş., KUTLAY N.

27th Congress of the European-College-of-Neuropsychopharmacology, 18 - 21 Ekim 2014, cilt.24, ss.639

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