Ürel-Demir G - Search Results

1

Neonatal ichthyosis-sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature.

Demir E, Tuna Kirsaçlioğlu C, Saltik-Temizel İN, Ürel-Demir G, Karaosmanoğlu B, Taşkiran EZ, Şimşek-Kiper PÖ, Utine GE, Kuloğlu Z, Kansu A. Demir E, et al. Among authors: urel demir g. Clin Dysmorphol. 2023 Apr 1;32(2):88-91. doi: 10.1097/MCD.0000000000000451. Epub 2023 Feb 13. Clin Dysmorphol. 2023. PMID: 36779798 Review. No abstract available.

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. 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

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

4

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. 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

5

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

6

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. 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

7

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.

8

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.

9

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. 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

10

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. 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.

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