Tükel T - Search Results

1

High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.

Baumer A, Dutly F, Balmer D, Riegel M, Tükel T, Krajewska-Walasek M, Schinzel AA. Baumer A, et al. Among authors: tukel t. Hum Mol Genet. 1998 May;7(5):887-94. doi: 10.1093/hmg/7.5.887. Hum Mol Genet. 1998. PMID: 9536094 Free article.

2

Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.

Tukel T, Šošić D, Al-Gazali LI, Erazo M, Casasnovas J, Franco HL, Richardson JA, Olson EN, Cadilla CL, Desnick RJ. Tukel T, et al. Am J Hum Genet. 2010 Aug 13;87(2):289-96. doi: 10.1016/j.ajhg.2010.07.009. Am J Hum Genet. 2010. PMID: 20691403 Free PMC article.

3

Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families.

Tukel T, Shalata A, Present D, Rachmilewitz D, Mayer L, Grant D, Risch N, Desnick RJ. Tukel T, et al. Am J Hum Genet. 2004 Apr;74(4):623-36. doi: 10.1086/382226. Epub 2004 Mar 5. Am J Hum Genet. 2004. PMID: 15024686 Free PMC article.

4

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.

5

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.

6

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

7

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

8

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

9

Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation.

Nuytinck L, Tükel T, Kayserili H, Apak MY, De Paepe A. Nuytinck L, et al. Among authors: tukel t. J Med Genet. 2000 May;37(5):371-5. doi: 10.1136/jmg.37.5.371. J Med Genet. 2000. PMID: 10807697 Free PMC article.

10

Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.

Laradi S, Tukel T, Khediri S, Shabbeer J, Erazo M, Chkioua L, Chaabouni M, Ferchichi S, Miled A, Desnick RJ. Laradi S, et al. Among authors: tukel t. Mol Genet Metab. 2006 Mar;87(3):213-8. doi: 10.1016/j.ymgme.2005.11.001. Mol Genet Metab. 2006. PMID: 16378744

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