Ürel Demir G - Search Results

1

Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development.

Ürel Demir G, Doğan ÖA, Şimşek Kiper PÖ, Utine GE, Boduroğlu K, Gucer S, Alikaşifoğlu M. Ürel Demir G, et al. Fetal Pediatr Pathol. 2017 Dec;36(6):445-451. doi: 10.1080/15513815.2017.1379039. Epub 2017 Dec 8. Fetal Pediatr Pathol. 2017. PMID: 29220612

2

Prenatal and Postnatal Follow-up in Trisomies 13 and 18: A 20-Year Experience in a Tertiary Center.

Akgün Doğan Ö, Ürel Demir G, Arslan U, Şimşek-Kiper PÖ, Utine GE, Alikaşifoğlu M, Boduroğlu K. Akgün Doğan Ö, et al. Among authors: urel demir g. Am J Perinatol. 2018 Apr;35(5):427-433. doi: 10.1055/s-0037-1608632. Epub 2017 Nov 7. Am J Perinatol. 2018. PMID: 29112995

3

Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry.

Utine GE, Şimşek-Kiper PÖ, Akgün-Doğan Ö, Ürel-Demir G, Alanay Y, Aktaş D, Boduroğlu K, Tunçbilek E, Alikaşifoğlu M. Utine GE, et al. Among authors: urel demir g. Eur J Obstet Gynecol Reprod Biol. 2018 Feb;221:76-80. doi: 10.1016/j.ejogrb.2017.12.028. Epub 2017 Dec 16. Eur J Obstet Gynecol Reprod Biol. 2018. PMID: 29275276

4

Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification.

Ürel-Demir G, Simsek-Kiper PO, Akgün-Doğan Ö, Göçmen R, Wang Z, Matsumoto N, Miyake N, Utine GE, Nishimura G, Ikegawa S, Boduroglu K. Ürel-Demir G, et al. J Hum Genet. 2018 Sep;63(9):1003-1007. doi: 10.1038/s10038-018-0473-4. Epub 2018 Jun 8. J Hum Genet. 2018. PMID: 29884795

5

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.

Simsek-Kiper PO, Taskiran EZ, Kosukcu C, Urel-Demir G, Akgun-Dogan O, Yilmaz G, Utine GE, Nishimura G, Boduroglu K, Alikasifoglu M. Simsek-Kiper PO, et al. Among authors: urel demir g. Am J Med Genet A. 2018 Sep;176(9):2009-2016. doi: 10.1002/ajmg.a.40427. Epub 2018 Jul 31. Am J Med Genet A. 2018. PMID: 30063090

6

Ophthalmo-acromelic syndrome in an infant.

Ürel-Demir G, Taşkıran EZ, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Utine GE. Ürel-Demir G, et al. Eur J Med Genet. 2019 Jul;62(7):103664. doi: 10.1016/j.ejmg.2019.05.003. Epub 2019 May 5. Eur J Med Genet. 2019. PMID: 31067494 Review.

7

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

Ürel-Demir G, Akgün-Doğan Ö, Oğuz S, Güleray-Lafcı N, Şimşek-Kiper PÖ, Eda Utine G, Alikaşifoğlu M, Boduroğlu K. Ürel-Demir G, et al. Mol Syndromol. 2020 Feb;11(1):38-42. doi: 10.1159/000505141. Epub 2020 Jan 14. Mol Syndromol. 2020. PMID: 32256300 Free PMC article.

8

Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.

Simsek-Kiper PO, Urel-Demir G, Taskiran EZ, Arslan UE, Nur B, Mihci E, Haliloglu M, Alanay Y, Utine GE, Boduroglu K. Simsek-Kiper PO, et al. Among authors: urel demir g. J Hum Genet. 2021 Jun;66(6):585-596. doi: 10.1038/s10038-020-00871-0. Epub 2020 Dec 7. J Hum Genet. 2021. PMID: 33288834

9

Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective study.

Kaya Akca U, Simsek Kiper PO, Urel Demir G, Sag E, Atalay E, Utine GE, Alikasifoglu M, Boduroglu K, Bilginer Y, Ozen S. Kaya Akca U, et al. Among authors: urel demir g. Eur J Med Genet. 2021 Apr;64(4):104185. doi: 10.1016/j.ejmg.2021.104185. Epub 2021 Mar 2. Eur J Med Genet. 2021. PMID: 33662637 Clinical Trial.

10

Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.

Taşkıran EZ, Karaosmanoğlu B, Koşukcu C, Ürel-Demir G, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Alikaşifoğlu M, Boduroğlu K, Utine GE. Taşkıran EZ, et al. Among authors: urel demir g. J Intellect Disabil Res. 2021 Jun;65(6):577-588. doi: 10.1111/jir.12835. Epub 2021 Mar 19. J Intellect Disabil Res. 2021. PMID: 33739554

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