Yüksel-Apak M - Search Results

1

A large duplication involving the IHH locus mimics acrocallosal syndrome.

Yuksel-Apak M, Bögershausen N, Pawlik B, Li Y, Apak S, Uyguner O, Milz E, Nürnberg G, Karaman B, Gülgören A, Grzeschik KH, Nürnberg P, Kayserili H, Wollnik B. Yuksel-Apak M, et al. Eur J Hum Genet. 2012 Jun;20(6):639-44. doi: 10.1038/ejhg.2011.250. Epub 2012 Jan 11. Eur J Hum Genet. 2012. PMID: 22234151 Free PMC article.

2

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

3

CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children.

Baş F, Kayserili H, Darendeliler F, Uyguner O, Günöz H, Yüksel Apak M, Atalar F, Bundak R, Wilson RC, New MI, Wollnik B, Saka N. Baş F, et al. Among authors: yuksel apak m. J Clin Res Pediatr Endocrinol. 2009;1(3):116-28. doi: 10.4008/jcrpe.v1i3.49. Epub 2009 Feb 2. J Clin Res Pediatr Endocrinol. 2009. PMID: 21274396 Free PMC article.

4

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.

Van Maldergem L, Yuksel-Apak M, Kayserili H, Seemanova E, Giurgea S, Basel-Vanagaite L, Leao-Teles E, Vigneron J, Foulon M, Greally M, Jaeken J, Mundlos S, Dobyns WB. Van Maldergem L, et al. Among authors: yuksel apak m. Neurology. 2008 Nov 11;71(20):1602-8. doi: 10.1212/01.wnl.0000327822.52212.c7. Epub 2008 Aug 20. Neurology. 2008. PMID: 18716235 Free article.

5

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F; ARCL Debré-type Study Group; Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S. Kornak U, et al. Nat Genet. 2008 Jan;40(1):32-4. doi: 10.1038/ng.2007.45. Epub 2007 Dec 23. Nat Genet. 2008. PMID: 18157129

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

Mutations in different components of FGF signaling in LADD syndrome.

Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nürnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yüksel-Apak M, Nürnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B. Rohmann E, et al. Among authors: yuksel apak m. Nat Genet. 2006 Apr;38(4):414-7. doi: 10.1038/ng1757. Epub 2006 Feb 26. Nat Genet. 2006. PMID: 16501574

8

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome.

Uzumcu A, Norgett EE, Dindar A, Uyguner O, Nisli K, Kayserili H, Sahin SE, Dupont E, Severs NJ, Leigh IM, Yuksel-Apak M, Kelsell DP, Wollnik B. Uzumcu A, et al. Among authors: yuksel apak m. J Med Genet. 2006 Feb;43(2):e5. doi: 10.1136/jmg.2005.032904. J Med Genet. 2006. PMID: 16467215 Free PMC article.

9

A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter.

Tukel T, Uzumcu A, Gezer A, Kayserili H, Yuksel-Apak M, Uyguner O, Gultekin SH, Hennies HC, Nurnberg P, Desnick RJ, Wollnik B. Tukel T, et al. Among authors: yuksel apak m. J Med Genet. 2005 May;42(5):408-15. doi: 10.1136/jmg.2004.026138. J Med Genet. 2005. PMID: 15863670 Free PMC article.

10

The results of cytogenetic analysis with regard to intracytoplasmic sperm injection in males, females and fetuses.

Basaran S, Engur A, Aytan M, Karaman B, Ghanbari A, Toksoy G, Yuksel A, Cankat D, Kervancioglu E, Wollnik B, Bahceci M, Yuksel-Apak M. Basaran S, et al. Among authors: yuksel apak m. Fetal Diagn Ther. 2004 Jul-Aug;19(4):313-8. doi: 10.1159/000077958. Fetal Diagn Ther. 2004. PMID: 15192289

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