Dr. Öğr. Üyesi NAZ GÜLERAY LAFCI

Yayın Ağı

Makaleler 28

1. Long-Term Clinical Characterization of ENTPD1-Related Spastic Paraplegia: A Novel Variant and Comprehensive Literature Review

ERKAN KOLAÇ D. D., Lafci O., ÖZTOPRAK Ü., Haliloglu G., GÜLERAY LAFCI N.

INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE , cilt.85, sa.5, 2025 (SCI-Expanded, Scopus)

2. PCOS - the many faces of a disorder in women and men

GÜLERAY LAFCI N., YILMAZ B., YILDIZ O. B.

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION , sa.4, ss.785-798, 2025 (SCI-Expanded, Scopus)

3. Monogenic Renal Calcium-Wasting Hypercalciuria: Unraveling TRPV5 as the Cause of a Novel Mendelian Disorder

GÜLERAY LAFCI N., van Goor M., Cetinkaya P. D. S., van der Wijst J., Acun M., Colak F. K., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , ss.1352-1353, 2024 (SCI-Expanded, Scopus)

4. **Monogenic Renal Calcium-Wasting Hypercalciuria: Unraveling TRPV5 as the Cause of a Novel Mendelian Disorder**

GÜLERAY LAFCI N., van Goor M., Cetinkaya S., van der Wijst J., Acun M., Colak F. K., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , ss.1352-1353, 2024 (SCI-Expanded, Scopus)

5. **Odyssey of the first female pioneer with an intragenic TCF12 deletion in hypogonadotropic hypogonadism 26**

ERKAN D. D., Sezer A., Cetinkaya S., GÜLERAY LAFCI N.

EUROPEAN JOURNAL OF HUMAN GENETICS , ss.1348, 2024 (SCI-Expanded, Scopus)

6. **Unveiling a novel INPP5E mutation: Bridging the gap between Joubert Syndrome and MORM Syndrome**

Bulut N., OĞUZ BAYKAL S. H., DAĞDELEN S., GÜLERAY LAFCI N.

EUROPEAN JOURNAL OF HUMAN GENETICS , ss.1352, 2024 (SCI-Expanded, Scopus)

7. **Odyssey of the first female pioneer with an intragenic TCF12 deletion in hypogonadotropic hypogonadism 26**

ERKAN D. D., Sezer A., Cetinkaya S., GÜLERAY LAFCI N.

EUROPEAN JOURNAL OF HUMAN GENETICS , ss.1348, 2024 (SCI-Expanded, Scopus)

8. **Unveiling a novel INPP5E mutation: Bridging the gap between Joubert Syndrome and MORM Syndrome**

Bulut N., OĞUZ BAYKAL S. H., DAĞDELEN S., GÜLERAY LAFCI N.

EUROPEAN JOURNAL OF HUMAN GENETICS , ss.1352, 2024 (SCI-Expanded, Scopus)

9. Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria

GÜLERAY LAFCI N., van Goor M., Cetinkaya S., van der Wijst J., Acun M., Kurt Colak F., et al.

European Journal of Human Genetics , 2024 (SCI-Expanded, Scopus)

10. **A Novel Stop Codon Mutation in Exon 6 (c.508A>T) of TRAPPC2 gene in a Patient with X-Linked Spondyloepiphyseal Dysplasia Tarda: A Case Report**

Yasar D., GÜLERAY LAFCI N., Kucukali G. K., Yilmaz A. A., Donmez B. O., YAZAR B. T., et al.

HORMONE RESEARCH IN PAEDIATRICS , ss.163-164, 2023 (SCI-Expanded, Scopus)

11. Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome

Güleray Lafcl N., KARAOSMANOĞLU B., TAŞKIRAN Z. E., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E.

Molecular Syndromology , cilt.14, sa.3, ss.258-265, 2023 (SCI-Expanded, Scopus)

12. Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum

Güleray N., Koşukcu C., Oğuz S., Ürel Demir G., Taşkıran E. Z., Kiper P. Ö. Ş., et al.

CLEFT PALATE-CRANIOFACIAL JOURNAL , cilt.59, sa.9, ss.1114-1124, 2022 (SCI-Expanded, Scopus)

13. A Case of SHOX Deletion Due to Isodicentric Y Chromosome Anomaly with Multiple Endocrine Disorders

Orman B., Kucukali G. K., GÜLERAY LAFCI N., Donmez B. O., Erdeve S. S., Cetinkaya S.

HORMONE RESEARCH IN PAEDIATRICS , cilt.95, sa.SUPPL 2, ss.533-534, 2022 (SCI-Expanded, Scopus)

14. Retrospective evaluation of patients with X-linked adrenoleukodystrophy with a wide range of clinical presentations: a single center experience

Olgac A., Kasaplcara C. S., Derinkuyu B., Yuksel D., Cetinkaya S., Aksoy A., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.34, sa.9, ss.1169-1179, 2021 (SCI-Expanded, Scopus)

15. Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway

Lafci N., Colak F. K., Sahin G., Sakar M., Cetinkaya S., Savas-Erdeve S.

HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM , cilt.20, sa.3, ss.581-585, 2021 (SCI-Expanded, Scopus)

16. **Clinical Management in Systemic Type Pseudohypoaldosteronism Due to SCNN1B Variant and Literature Review.**

Karacan Küçükali G., Çetinkaya S., Tunç G., Oğuz M. M., Çelik N., Akkaş K. Y., et al.

Journal of clinical research in pediatric endocrinology , cilt.13, ss.446-451, 2021 (SCI-Expanded, Scopus, TRDizin)

17. An intronic variant inBRAT1creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity

Colak F. K., Guleray N., Azapagasi E., Yazici M. U., Aksoy E., Ceylan N.

ACTA NEUROLOGICA BELGICA , cilt.120, sa.6, ss.1425-1432, 2020 (SCI-Expanded, Scopus)

18. Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.

Guleray N., Kosukcu C., Taskiran Z., Simsek K., Utine G., Gucer S., et al.

Fetal and pediatric pathology , cilt.39, sa.2, ss.163-171, 2020 (SCI-Expanded, Scopus)

19. Café noir spots: a feature of familial progressive hyper- and hypopigmentation.

Gulseren D., Guleray N., Akgun-Dogan O., Simsek-Kiper P. O., Utine E. G., Alikasifoglu M., et al.

Journal of the European Academy of Dermatology and Venereology : JEADV , cilt.34, sa.2, 2020 (SCI-Expanded, Scopus)

20. Peters Plus syndrome: a recognizable clinical entity

ÜREL DEMİR G., Lafci N., Dogan O. A., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E.

TURKISH JOURNAL OF PEDIATRICS , cilt.62, sa.1, ss.136-140, 2020 (SCI-Expanded, Scopus, TRDizin)

21. Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20)

Ürel-Demir G., Akgün-Doǧan Ö., OĞUZ S., Güleray-Lafcl N., Şimşek-Kiper P. Ö., Eda Utine G., et al.

MOLECULAR SYNDROMOLOGY , cilt.11, sa.1, ss.38-42, 2020 (SCI-Expanded, Scopus)

22. A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2

Ozen S., Bilginer Y., Batu E., Taşkıran E., Özkara H. A., Ünal Ş., et al.

JOURNAL OF RHEUMATOLOGY , cilt.47, sa.1, ss.117-125, 2020 (SCI-Expanded, Scopus)

23. Intrafamilial variability of XYLT2-related spondyloocular syndrome

Guleray N., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., Boduroglu K., ALİKAŞİFOĞLU M.

European Journal of Medical Genetics , cilt.62, sa.11, 2019 (SCI-Expanded, Scopus)

24. Retrospective analysis of indications for termination of pregnancy

ÖZYÜNCÜ Ö., ÖRGÜL G., TANAÇAN A., AKTOZ F., GÜLERAY N., FADILOĞLU E., et al.

JOURNAL OF OBSTETRICS AND GYNAECOLOGY , cilt.39, sa.3, ss.355-358, 2019 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

25. Evaluation of Pregnancies in 25 Families with Balanced/Unbalanced Chromosomal Translocations

GÜLERAY N., Yucesoy H. M., FADILOĞLU E., TANAÇAN A., ALİKAŞİFOĞLU M., BEKSAÇ M. S.

INTERNATIONAL JOURNAL OF HUMAN GENETICS , cilt.19, sa.1, ss.22-28, 2019 (SCI-Expanded)

26. Growth Hormon Deficiency in Identical Twins with Gitelman Syndrome Due to Compound Heterozygous Mutation (p.R80fs*35/p.K957X) of the SLC12A3 Gene and the Evaluation of the Response to Growth Hormone Replacement Therapy

Yaman B., Celegen K., Korkmaz E., Lafci N., Balik Z., DEMİRBİLEK H., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.90, ss.461-462, 2018 (SCI-Expanded, Scopus)

27. Partial Trisomy 18 From a marker chromosome to a rare chromosomal disorder

OĞUZ S., GÜLERAY N., DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K., et al.

MOLECULAR CYTOGENETICS , cilt.10, 2017 (SCI-Expanded, Scopus)

28. HERC1 mutations in idiopathic intellectual disability

ÜTİNE G. E., Taskiran E. Z., KOŞUKCU C., KARAOSMANOĞLU B., GÜLERAY N., Dogan O. A., et al.

European Journal of Medical Genetics , cilt.60, sa.5, ss.279-283, 2017 (SCI-Expanded, Scopus)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 8

1. Comprehensive approach focusing on the molecular profile of a rare genodermatosis: Epidermodysplasia Verruciformis

ERKAN D. D., Akcin O., DURMAZ ÖZDİNÇ C. D., ATEŞ ÖZDEMİR D., GÜLERAY LAFCI N., DİZDAR Ö.

56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, İngiltere, 10 - 13 Haziran 2023, ss.397, (Özet Bildiri)

2. Expanding the clinical and mutational spectrum of Roberts syndrome with previously unreported endoctrine findings.

GÜLERAY N., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K., ALİKAŞİFOĞLU M.

European Human Genetics Conference, 16 - 19 Haziran 2018, (Tam Metin Bildiri)

3. 6p25.3 delesyonu

AKGÜN DOĞAN Ö., ÜREL DEMİR G., GÜLERAY N., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., KUTLUK M. T., et al.

3.Ulusal Çocuk Genetik Sempozyumu, Antalya, Türkiye, 11 - 13 Ekim 2017, (Tam Metin Bildiri)

4. Taşıyıcı kız kardeşlerin oğullarında zihinsel yetersizlik

ÜREL DEMİR G., OĞUZ S., GÜLERAY N., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., et al.

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Türkiye, 11 - 13 Ekim 2017, (Tam Metin Bildiri)

5. Oküloaurikülovertebral spektrumda 5p delesyonu

ÜREL DEMİR G., OĞUZ S., GÜLERAY N., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., et al.

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Türkiye, 11 - 13 Ekim 2017, (Tam Metin Bildiri)

6. Partial Trisomy 18 From a marker chromosome to a rare chromosomal disorder

OĞUZ S., GÜLERAY N., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K., et al.

European Cytogenetics Conference, 1 - 04 Temmuz 2017, (Tam Metin Bildiri)

7. Hennekam sendromu Otozomal resesif geçişli bir konjenital lenfödem

GÜLERAY N., ÖZER M., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K.

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Türkiye, 22 - 24 Ekim 2015, (Tam Metin Bildiri)

8. Roberts SC Phocomelia Syndrome A Rare Clinical Entity

GÜLERAY N., ŞİMŞEK KİPER P. Ö., DEMİREL M., ÇETİNKAYA A., ÜTİNE G. E., ALİKAŞİFOĞLU M., et al.

International Skeletal Dysplasia Society 12th Biennial Meeting, 29 Temmuz - 01 Ağustos 2015, (Tam Metin Bildiri)

Metrikler

Yayın

Yayın (WoS)

Yayın (Scopus)

Atıf (WoS)

146

H-İndeks (WoS)

Atıf (Scopus)

153

H-İndeks (Scopus)

Atıf (Scholar)

H-İndeks (Scholar)

Proje

Açık Erişim

BM Sürdürülebilir Kalkınma Amaçları

Yayınlar & Eserler