Tekin M - Search Results

1

MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation.

Garg N, Bademci G, Foster J 2nd, Sıklar Z, Berberoglu M, Tekin M. Garg N, et al. Among authors: tekin m. J Pediatr. 2015 Aug;167(2):489-91. doi: 10.1016/j.jpeds.2015.04.069. Epub 2015 May 23. J Pediatr. 2015. PMID: 26003998

2

The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype.

Tekin M, Kavaz A, Berberoğlu M, Fitoz S, Ekim M, Ocal G, Akar N. Tekin M, et al. Am J Med Genet A. 2004 Oct 15;130A(3):284-7. doi: 10.1002/ajmg.a.30291. Am J Med Genet A. 2004. PMID: 15378538 Review.

3

Paternal X could relate to arithmetic function; study of cognitive function and parental origin of X chromosome in Turner syndrome.

Ergür AT, Ocal G, Berberoglu M, Tekin M, Kiliç BG, Aycan Z, Kutlu A, Adiyaman P, Siklar Z, Akar N, Sahin A, Akçayöz D. Ergür AT, et al. Among authors: tekin m. Pediatr Int. 2008 Apr;50(2):172-4. doi: 10.1111/j.1442-200X.2008.02540.x. Pediatr Int. 2008. PMID: 18353053

4

A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.

Sirmaci A, Erbek S, Price J, Huang M, Duman D, Cengiz FB, Bademci G, Tokgöz-Yilmaz S, Hişmi B, Ozdağ H, Oztürk B, Kulaksizoğlu S, Yildirim E, Kokotas H, Grigoriadou M, Petersen MB, Shahin H, Kanaan M, King MC, Chen ZY, Blanton SH, Liu XZ, Zuchner S, Akar N, Tekin M. Sirmaci A, et al. Among authors: tekin m. Am J Hum Genet. 2010 May 14;86(5):797-804. doi: 10.1016/j.ajhg.2010.04.004. Epub 2010 May 6. Am J Hum Genet. 2010. PMID: 20451170 Free PMC article.

5

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.

Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Abrams A, Bademci G, Agolini E, Guo S, Konuk B, Kavaz A, Blanton S, Digilio MC, Dallapiccola B, Young J, Zuchner S, Tekin M. Sirmaci A, et al. Among authors: tekin m. Am J Hum Genet. 2011 Aug 12;89(2):289-94. doi: 10.1016/j.ajhg.2011.06.007. Epub 2011 Jul 21. Am J Hum Genet. 2011. PMID: 21782149 Free PMC article.

6

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

Diaz-Horta O, Duman D, Foster J 2nd, Sırmacı A, Gonzalez M, Mahdieh N, Fotouhi N, Bonyadi M, Cengiz FB, Menendez I, Ulloa RH, Edwards YJ, Züchner S, Blanton S, Tekin M. Diaz-Horta O, et al. Among authors: tekin m. PLoS One. 2012;7(11):e50628. doi: 10.1371/journal.pone.0050628. Epub 2012 Nov 30. PLoS One. 2012. PMID: 23226338 Free PMC article.

7

SLITRK6 mutations cause myopia and deafness in humans and mice.

Tekin M, Chioza BA, Matsumoto Y, Diaz-Horta O, Cross HE, Duman D, Kokotas H, Moore-Barton HL, Sakoori K, Ota M, Odaka YS, Foster J 2nd, Cengiz FB, Tokgoz-Yilmaz S, Tekeli O, Grigoriadou M, Petersen MB, Sreekantan-Nair A, Gurtz K, Xia XJ, Pandya A, Patton MA, Young JI, Aruga J, Crosby AH. Tekin M, et al. J Clin Invest. 2013 May;123(5):2094-102. doi: 10.1172/JCI65853. Epub 2013 Apr 1. J Clin Invest. 2013. PMID: 23543054 Free PMC article.

8

DNASE1L3 mutations in hypocomplementemic urticarial vasculitis syndrome.

Ozçakar ZB, Foster J 2nd, Diaz-Horta O, Kasapcopur O, Fan YS, Yalçınkaya F, Tekin M. Ozçakar ZB, et al. Among authors: tekin m. Arthritis Rheum. 2013 Aug;65(8):2183-9. doi: 10.1002/art.38010. Arthritis Rheum. 2013. PMID: 23666765 Free article.

9

An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability.

Falcone M, Yariz KO, Ross DB, Foster J 2nd, Menendez I, Tekin M. Falcone M, et al. Among authors: tekin m. PLoS One. 2013 Dec 6;8(12):e82810. doi: 10.1371/journal.pone.0082810. eCollection 2013. PLoS One. 2013. PMID: 24324832 Free PMC article.

10

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.

Thorson W, Diaz-Horta O, Foster J 2nd, Spiliopoulos M, Quintero R, Farooq A, Blanton S, Tekin M. Thorson W, et al. Among authors: tekin m. Hum Genet. 2014 Jun;133(6):737-42. doi: 10.1007/s00439-013-1406-0. Epub 2013 Dec 13. Hum Genet. 2014. PMID: 24337657

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