Tekin M - Search Results

1

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

2

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

3

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

4

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

5

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.

6

A 17-month-old with extreme prenatal-onset growth delay. Microcephalic osteodysplastic primordial dwarfism type II.

Tekin M, Ng J, Bodurtha J. Tekin M, et al. Eur J Pediatr. 2000 Dec;159(12):926-8. doi: 10.1007/pl00008371. Eur J Pediatr. 2000. PMID: 11131353 No abstract available.

7

Café au lait spots: the pediatrician's perspective.

Tekin M, Bodurtha JN, Riccardi VM. Tekin M, et al. Pediatr Rev. 2001 Mar;22(3):82-90. doi: 10.1542/pir.22-3-82. Pediatr Rev. 2001. PMID: 11230626 Review. No abstract available.

8

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

9

Advances in hereditary deafness.

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.

10

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

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