Şimşek-Kiper PÖ - Search Results

1

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

Gülseren D, Güleray N, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Utine EG, Alikaşifoğlu M, Ersoy-Evans S. Gülseren D, et al. J Eur Acad Dermatol Venereol. 2020 Feb;34(2):e76-e77. doi: 10.1111/jdv.15968. Epub 2019 Oct 24. J Eur Acad Dermatol Venereol. 2020. PMID: 31571311 No abstract available.

2

A newborn with overlapping features of AEC and EEC syndromes.

Celik TH, Buyukcam A, Simsek-Kiper PO, Utine GE, Ersoy-Evans S, Korkmaz A, Yntema HG, Bodugroglu K, Yurdakok M. Celik TH, et al. Am J Med Genet A. 2011 Dec;155A(12):3100-3. doi: 10.1002/ajmg.a.34328. Epub 2011 Nov 7. Am J Med Genet A. 2011. PMID: 22065614

3

A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype.

Simşek-Kiper PO, Utine GE, Alanay Y, Aktaş D, Alikaşifoğlu M, Boduroğlu K. Simşek-Kiper PO, et al. Turk J Pediatr. 2011 Sep-Oct;53(5):558-60. Turk J Pediatr. 2011. PMID: 22272459

4

Bilateral anterior segment dysgenesis in an infant with partial trisomy 16q and partial monosomy 3p.

Dikmetas O, Simsek Kiper PO, Mocan MC, Utine EG, Boduroglu K, Irkec M. Dikmetas O, et al. J AAPOS. 2012 Oct;16(5):473-5. doi: 10.1016/j.jaapos.2012.05.008. J AAPOS. 2012. PMID: 23084388

5

A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome.

Doğan ÖA, Şimşek Kiper PÖ, Utine GE, Alikaşifoğlu M, Boduroğlu K. Doğan ÖA, et al. Korean J Fam Med. 2017 Mar;38(2):102-105. doi: 10.4082/kjfm.2017.38.2.102. Epub 2017 Mar 22. Korean J Fam Med. 2017. PMID: 28360987 Free PMC article.

6

Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.

Taskiran EZ, Karaosmanoglu B, Koşukcu C, Doğan ÖA, Taylan-Şekeroğlu H, Şimşek-Kiper PÖ, Utine EG, Boduroğlu K, Alikaşifoğlu M. Taskiran EZ, et al. Am J Med Genet A. 2017 Dec;173(12):3143-3152. doi: 10.1002/ajmg.a.38495. Epub 2017 Oct 8. Am J Med Genet A. 2017. PMID: 28988429

7

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

8

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

9

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

10

A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate.

Simsek-Kiper PO, Kosukcu C, Akgun-Dogan O, Gocmen R, Utine GE, Soyer T, Korkmaz-Toygar A, Nishimura G, Alikasifoglu M, Boduroglu K. Simsek-Kiper PO, et al. Eur J Med Genet. 2019 Jan;62(1):21-26. doi: 10.1016/j.ejmg.2018.04.013. Epub 2018 Apr 25. Eur J Med Genet. 2019. PMID: 29704686

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