Utine GE - Search Results

1

Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.

Iida A, Simsek-Kiper PÖ, Mizumoto S, Hoshino T, Elcioglu N, Horemuzova E, Geiberger S, Yesil G, Kayserili H, Utine GE, Boduroglu K, Watanabe S, Ohashi H, Alanay Y, Sugahara K, Nishimura G, Ikegawa S. Iida A, et al. Among authors: utine ge. Hum Mutat. 2013 Oct;34(10):1381-6. doi: 10.1002/humu.22377. Epub 2013 Jul 26. Hum Mutat. 2013. PMID: 23824674

2

CHRND variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a case.

Soyer T, Boybeyi Ö, Karaosmanoğlu B, Taşkıran E, Şimşek ÖP, Utine GE. Soyer T, et al. Among authors: utine ge. Birth Defects Res. 2024 Jan;116(1):e2286. doi: 10.1002/bdr2.2286. Epub 2023 Dec 12. Birth Defects Res. 2024. PMID: 38087897

3

Assessing the Menstrual Cycle and Related Problems in Adolescents with a Genetic Syndrome Associated with Intellectual Disability.

Çınar HÜ, Kızılkan MP, Akalın A, Kiper PÖŞ, Utine GE, Derman O, Kanbur N, Akgül S. Çınar HÜ, et al. Among authors: utine ge. J Pediatr Adolesc Gynecol. 2023 Aug;36(4):363-371. doi: 10.1016/j.jpag.2023.02.005. Epub 2023 Mar 6. J Pediatr Adolesc Gynecol. 2023. PMID: 36889454

4

The Türkiye-Syria Earthquake: a response from the editors of the Turkish Journal of Pediatrics.

Düzova A, Akgül S, Utine GE, Yıldız Y. Düzova A, et al. Among authors: utine ge. Turk J Pediatr. 2023;65(1):1-2. doi: 10.24953/turkjped.2023.E001. Turk J Pediatr. 2023. PMID: 36866979 Free article. No abstract available.

5

Coexistence of Two Rare Conditions Complicating the Other's Management: Propionic Acidemia and Apert Syndrome.

Ensert Cihan CK, Akar HT, Yıldız Y, Sogukpinar M, Utine GE, Çelik HT. Ensert Cihan CK, et al. Among authors: utine ge. Mol Syndromol. 2024 Feb;15(1):83-88. doi: 10.1159/000534380. Epub 2023 Oct 27. Mol Syndromol. 2024. PMID: 38357253 Free PMC article.

6

Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome.

Alanay Y, Utine GE, Lachman RS, Krakow D, Tuncbilek E. Alanay Y, et al. Among authors: utine ge. Pediatr Radiol. 2006 Sep;36(9):970-3. doi: 10.1007/s00247-006-0217-z. Epub 2006 May 20. Pediatr Radiol. 2006. PMID: 16715218

7

Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance.

Utine GE, Alanay Y, Aktaş D, Talim B, Kale G, Tunçbilek E. Utine GE, et al. Turk J Pediatr. 2008 May-Jun;50(3):287-90. Turk J Pediatr. 2008. PMID: 18773678

8

PORCN mutations in focal dermal hypoplasia: coping with lethality.

Bornholdt D, Oeffner F, König A, Happle R, Alanay Y, Ascherman J, Benke PJ, Boente Mdel C, van der Burgt I, Chassaing N, Ellis I, Francisco CR, Della Giovanna P, Hamel B, Has C, Heinelt K, Janecke A, Kastrup W, Loeys B, Lohrisch I, Marcelis C, Mehraein Y, Nicolas ME, Pagliarini D, Paradisi M, Patrizi A, Piccione M, Piza-Katzer H, Prager B, Prescott K, Strien J, Utine GE, Zeller MS, Grzeschik KH. Bornholdt D, et al. Among authors: utine ge. Hum Mutat. 2009 May;30(5):E618-28. doi: 10.1002/humu.20992. Hum Mutat. 2009. PMID: 19309688

9

Partial distal aphalangia, duplication of metatarsal IV, microcephaly and borderline intelligence: a third patient suggesting autosomal recessive inheritance.

Utine GE, Alanay Y, Aktaş D, Alikaşifoğlu M, Boduroğlu K. Utine GE, et al. Am J Med Genet A. 2009 Jun;149A(6):1317-8. doi: 10.1002/ajmg.a.32825. Am J Med Genet A. 2009. PMID: 19449409 No abstract available.

10

Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes.

Simşek PO, Utine GE, Alikaşifoğlu A, Alanay Y, Boduroğlu K, Kandemir N. Simşek PO, et al. Among authors: utine ge. Turk J Pediatr. 2009 May-Jun;51(3):294-7. Turk J Pediatr. 2009. PMID: 19817277

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