Tükel T - Search Results

1

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. Among authors: tukel t. Prenat Diagn. 2002 Aug;22(8):703-9. doi: 10.1002/pd.384. Prenat Diagn. 2002. PMID: 12210580

2

Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.

Wollnik B, Tukel T, Uyguner O, Ghanbari A, Kayserili H, Emiroglu M, Yuksel-Apak M. Wollnik B, et al. Among authors: tukel t. Am J Med Genet A. 2003 Sep 15;122A(1):42-5. doi: 10.1002/ajmg.a.20260. Am J Med Genet A. 2003. PMID: 12949970

3

A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency.

Tukel T, Uyguner O, Wei JQ, Yuksel-Apak M, Saka N, Song DX, Kayserili H, Bas F, Gunoz H, Wilson RC, New MI, Wollnik B. Tukel T, et al. J Clin Endocrinol Metab. 2003 Dec;88(12):5893-7. doi: 10.1210/jc.2003-030813. J Clin Endocrinol Metab. 2003. PMID: 14671187

4

Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family.

Wollnik B, Kayserili H, Uyguner O, Tukel T, Yuksel-Apak M. Wollnik B, et al. Among authors: tukel t. Ann Genet. 2002 Oct-Dec;45(4):213-7. doi: 10.1016/s0003-3995(02)01144-9. Ann Genet. 2002. PMID: 12668170

5

The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.

Uyguner O, Tukel T, Baykal C, Eris H, Emiroglu M, Hafiz G, Ghanbari A, Baserer N, Yuksel-Apak M, Wollnik B. Uyguner O, et al. Among authors: tukel t. Clin Genet. 2002 Oct;62(4):306-9. doi: 10.1034/j.1399-0004.2002.620409.x. Clin Genet. 2002. PMID: 12372058

6

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. J Med Genet. 2005 May;42(5):408-15. doi: 10.1136/jmg.2004.026138. J Med Genet. 2005. PMID: 15863670 Free PMC article.

7

Frequency of renal malformations in Turner syndrome: analysis of 82 Turkish children.

Bilge I, Kayserili H, Emre S, Nayir A, Sirin A, Tukel T, Bas F, Kilic G, Basaran S, Gunoz H, Apak M. Bilge I, et al. Among authors: tukel t. Pediatr Nephrol. 2000 Oct;14(12):1111-4. doi: 10.1007/s004670000315. Pediatr Nephrol. 2000. PMID: 11045397

8

Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance.

Maassen JA, Tobias ES, Kayserilli H, Tukel T, Yuksel-Apak M, D'Haens E, Kleijer WJ, Féry F, van der Zon GC. Maassen JA, et al. Among authors: tukel t. J Clin Endocrinol Metab. 2003 Sep;88(9):4251-7. doi: 10.1210/jc.2003-030034. J Clin Endocrinol Metab. 2003. PMID: 12970295

9

Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.

Dowling O, Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, Kayserili H, Yuksel-Apak M, Paller AS, Norton K, Teebi AS, Grum-Tokars V, Martin GS, Davis GE, Glucksman MJ, Martignetti JA. Dowling O, et al. Among authors: tukel t. Am J Hum Genet. 2003 Oct;73(4):957-66. doi: 10.1086/378781. Epub 2003 Sep 12. Am J Hum Genet. 2003. PMID: 12973667 Free PMC article.

10

Prenatal diagnosis of hereditary spastic paraplegia.

Hedera P, Williamson JA, Rainier S, Alvarado D, Tukel T, Apak M, Fink JK. Hedera P, et al. Among authors: tukel t. Prenat Diagn. 2001 Mar;21(3):202-6. doi: 10.1002/1097-0223(200103)21:3<202::aid-pd4>3.0.co;2-u. Prenat Diagn. 2001. PMID: 11260609 Free article.

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