Yüksel-Apak M - Search Results

1

A somatic origin of homologous Robertsonian translocations and isochromosomes.

Robinson WP, Bernasconi F, Basaran S, Yüksel-Apak M, Neri G, Serville F, Balicek P, Haluza R, Farah LM, Lüleci G, et al. Robinson WP, et al. Am J Hum Genet. 1994 Feb;54(2):290-302. Am J Hum Genet. 1994. PMID: 8304346 Free PMC article.

2

Maternal uniparental disomy 22 has no impact on the phenotype.

Schinzel AA, Basaran S, Bernasconi F, Karaman B, Yüksel-Apak M, Robinson WP. Schinzel AA, et al. Am J Hum Genet. 1994 Jan;54(1):21-4. Am J Hum Genet. 1994. PMID: 8279466 Free PMC article.

3

Identification of the parental origin of polysomy in two 49,XXXXY cases.

Celik A, Eraslan S, Gökgöz N, Ilgin H, Başaran S, Bökesoy I, Kayserili H, Yüksel-Apak M, Kirdar B. Celik A, et al. Clin Genet. 1997 Jun;51(6):426-9. doi: 10.1111/j.1399-0004.1997.tb02504.x. Clin Genet. 1997. PMID: 9237509

4

Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11.

Dutly F, Baumer A, Kayserili H, Yüksel-Apak M, Zerova T, Hebisch G, Schinzel A. Dutly F, et al. Am J Med Genet. 1998 Oct 12;79(5):347-53. doi: 10.1002/(sici)1096-8628(19981012)79:5<347::aid-ajmg4>3.0.co;2-g. Am J Med Genet. 1998. PMID: 9779800

5

A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family.

Karaman B, Wollnik B, Ermiş H, Yüksel-Apak M, Başaran S. Karaman B, et al. Prenat Diagn. 2003 Apr;23(4):336-9. doi: 10.1002/pd.592. Prenat Diagn. 2003. PMID: 12673642

6

The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey.

Karaman B, Aytan M, Yilmaz K, Toksoy G, Onal EP, Ghanbari A, Engur A, Kayserili H, Yuksel-Apak M, Basaran S. Karaman B, et al. Among authors: yuksel apak m. Eur J Med Genet. 2006 May-Jun;49(3):207-14. doi: 10.1016/j.ejmg.2005.06.002. Epub 2005 Jul 12. Eur J Med Genet. 2006. PMID: 16762822

7

Tetra-amelia, lung hypo-/aplasia, cleft lip-palate, and heart defect: a new syndrome?

Başaran S, Yüksel A, Ermiş H, Kuseyri F, Ağan M, Yüksel-Apak M. Başaran S, et al. Am J Med Genet. 1994 May 15;51(1):77-80. doi: 10.1002/ajmg.1320510116. Am J Med Genet. 1994. PMID: 8030673

8

Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS).

Kayserili H, Cox TC, Cox LL, Basaran S, Kiliç G, Ballabio A, Yüksel-Apak M. Kayserili H, et al. J Med Genet. 2001 Jun;38(6):411-7. doi: 10.1136/jmg.38.6.411. J Med Genet. 2001. PMID: 11424926 Free PMC article. Review. No abstract available.

9

Mutational screening of BASP1 and transcribed processed pseudogene TPPsig-BASP1 in patients with Möbius syndrome.

Uzumcu A, Candan S, Toksoy G, Uyguner ZO, Karaman B, Eris H, Tatli B, Kayserili H, Yuksel A, Geckinli B, Yuksel-Apak M, Basaran S. Uzumcu A, et al. Among authors: yuksel apak m. J Genet Genomics. 2009 Apr;36(4):251-6. doi: 10.1016/S1673-8527(08)60112-5. J Genet Genomics. 2009. PMID: 19376485

10

Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families.

Savas S, Eraslan S, Kantarci S, Karaman B, Acarsoz D, Tükel T, Cogulu O, Ozkinay F, Basaran S, Aydinli K, Yuksel-Apak M, Kirdar B. Savas S, et al. Prenat Diagn. 2002 Aug;22(8):703-9. doi: 10.1002/pd.384. Prenat Diagn. 2002. PMID: 12210580

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