Tekin M - Search Results

1

Tekin M, Arnos KS, Pandya A. Tekin M, et al. Lancet. 2001 Sep 29;358(9287):1082-90. doi: 10.1016/S0140-6736(01)06186-4. Lancet. 2001. PMID: 11589958 Review.

2

Validation of a multiplex methylation-sensitive PCR assay for the diagnosis of Prader-Willi and Angelman's syndromes.

Buller A, Pandya A, Jackson-Cook C, Bodurtha J, Tekin M, Wilkinson DS, Garrett CT, Ferreira-Gonzalez A. Buller A, et al. Among authors: tekin m. Mol Diagn. 2000 Sep;5(3):239-43. doi: 10.1054/modi.2000.9729. Mol Diagn. 2000. PMID: 11070159

3

Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methylation.

Tekin M, Jackson-Cook C, Buller A, Ferreira-Gonzalez A, Pandya A, Garrett CT, Bodurtha J. Tekin M, et al. Am J Med Genet. 2000 Nov 13;95(2):145-9. doi: 10.1002/1096-8628(20001113)95:2<145::aid-ajmg10>3.0.co;2-r. Am J Med Genet. 2000. PMID: 11078565

4

W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness.

Tekin M, Arnos KS, Xia XJ, Oelrich MK, Liu XZ, Nance WE, Pandya A. Tekin M, et al. Clin Genet. 2001 Apr;59(4):269-73. doi: 10.1034/j.1399-0004.2001.590409.x. Clin Genet. 2001. PMID: 11298683

5

Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians.

Tekin M, Akar N, Cin S, Blanton SH, Xia XJ, Liu XZ, Nance WE, Pandya A. Tekin M, et al. Hum Genet. 2001 May;108(5):385-9. doi: 10.1007/s004390100507. Hum Genet. 2001. PMID: 11409864

6

Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?

Tekin M, Bodurtha JN, Nance WE, Pandya A. Tekin M, et al. Clin Genet. 2001 Oct;60(4):301-4. doi: 10.1034/j.1399-0004.2001.600408.x. Clin Genet. 2001. PMID: 11683776

7

Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness.

Liu XZ, Xia XJ, Adams J, Chen ZY, Welch KO, Tekin M, Ouyang XM, Kristiansen A, Pandya A, Balkany T, Arnos KS, Nance WE. Liu XZ, et al. Among authors: tekin m. Hum Mol Genet. 2001 Dec 1;10(25):2945-51. doi: 10.1093/hmg/10.25.2945. Hum Mol Genet. 2001. PMID: 11741837

8

De novo inverted tandem duplication of the short arm of chromosome 12 in a patient with microblepharon.

Tekin M, Jackson-Cook C, Pandya A. Tekin M, et al. Am J Med Genet. 2001 Nov 15;104(1):42-6. doi: 10.1002/ajmg.10025. Am J Med Genet. 2001. PMID: 11746026 Review.

9

Type I collagen triplet duplication mutation in lethal osteogenesis imperfecta shifts register of alpha chains throughout the helix and disrupts incorporation of mutant helices into fibrils and extracellular matrix.

Cabral WA, Mertts MV, Makareeva E, Colige A, Tekin M, Pandya A, Leikin S, Marini JC. Cabral WA, et al. Among authors: tekin m. J Biol Chem. 2003 Mar 21;278(12):10006-12. doi: 10.1074/jbc.M212523200. Epub 2003 Jan 20. J Biol Chem. 2003. PMID: 12538651 Free article.

10

Chudley-McCullough syndrome: expanded phenotype and review of the literature.

Welch KO, Tekin M, Nance WE, Blanton SH, Arnos KS, Pandya A. Welch KO, et al. Among authors: tekin m. Am J Med Genet A. 2003 May 15;119A(1):71-6. doi: 10.1002/ajmg.a.10180. Am J Med Genet A. 2003. PMID: 12707963

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