Akarsu N - Search Results

1

Association between C677T and A1298C MTHFR gene polymorphism and nonsyndromic orofacial clefts in the Turkish population: a case-parent study.

Semiç-Jusufagiç A, Bircan R, Çelebiler Ö, Erdim M, Akarsu N, Elçioğlu NH. Semiç-Jusufagiç A, et al. Among authors: akarsu n. Turk J Pediatr. 2012 Nov-Dec;54(6):617-25. Turk J Pediatr. 2012. PMID: 23692788

2

Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation.

Mansur AT, Elcioglu NH, Redler S, Serdar ZA, Cetinel S, Betz RC, Akarsu NA. Mansur AT, et al. Am J Med Genet A. 2010 Oct;152A(10):2628-33. doi: 10.1002/ajmg.a.33649. Am J Med Genet A. 2010. PMID: 20814945

3

CRIM1 haploinsufficiency causes defects in eye development in human and mouse.

Beleggia F, Li Y, Fan J, Elcioğlu NH, Toker E, Wieland T, Maumenee IH, Akarsu NA, Meitinger T, Strom TM, Lang R, Wollnik B. Beleggia F, et al. Hum Mol Genet. 2015 Apr 15;24(8):2267-73. doi: 10.1093/hmg/ddu744. Epub 2015 Jan 5. Hum Mol Genet. 2015. PMID: 25561690 Free PMC article.

4

Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region.

Elcioglu NH, Akin B, Toker E, Elcioglu M, Kaya A, Tuncali T, Wollnik B, Hornby S, Akarsu NA. Elcioglu NH, et al. Am J Med Genet A. 2007 Jun 15;143A(12):1308-12. doi: 10.1002/ajmg.a.31766. Am J Med Genet A. 2007. PMID: 17506091

5

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis.

Keupp K, Li Y, Vargel I, Hoischen A, Richardson R, Neveling K, Alanay Y, Uz E, Elcioğlu N, Rachwalski M, Kamaci S, Tunçbilek G, Akin B, Grötzinger J, Konas E, Mavili E, Müller-Newen G, Collmann H, Roscioli T, Buckley MF, Yigit G, Gilissen C, Kress W, Veltman J, Hammerschmidt M, Akarsu NA, Wollnik B. Keupp K, et al. Among authors: akarsu na. Mol Genet Genomic Med. 2013 Nov;1(4):223-37. doi: 10.1002/mgg3.28. Epub 2013 Aug 19. Mol Genet Genomic Med. 2013. PMID: 24498618 Free PMC article.

6

Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations.

Okur H, Balta G, Akarsu N, Oner A, Patiroglu T, Bay A, Sayli T, Unal S, Gurgey A. Okur H, et al. Among authors: akarsu n. Leuk Res. 2008 Jun;32(6):972-5. doi: 10.1016/j.leukres.2007.11.033. Epub 2008 Jan 10. Leuk Res. 2008. PMID: 18190960

7

TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.

Alanay Y, Ergüner B, Utine E, Haçariz O, Kiper PO, Taşkıran EZ, Perçin F, Uz E, Sağiroğlu MŞ, Yuksel B, Boduroglu K, Akarsu NA. Alanay Y, et al. Am J Med Genet A. 2014 Feb;164A(2):291-304. doi: 10.1002/ajmg.a.36248. Epub 2013 Nov 5. Am J Med Genet A. 2014. PMID: 24194475 Review.

8

Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes.

Semerci CN, Demirkan F, Ozdemir M, Biskin E, Akin B, Bagci H, Akarsu NA. Semerci CN, et al. Among authors: akarsu na. Clin Genet. 2009 Jul;76(1):85-90. doi: 10.1111/j.1399-0004.2009.01192.x. Epub 2009 Jun 9. Clin Genet. 2009. PMID: 19519794

9

Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.

Kaplan Y, Vargel I, Kansu T, Akin B, Rohmann E, Kamaci S, Uz E, Ozcelik T, Wollnik B, Akarsu NA. Kaplan Y, et al. Among authors: akarsu na. Br J Ophthalmol. 2008 Jan;92(1):135-41. doi: 10.1136/bjo.2007.128157. Epub 2007 Oct 25. Br J Ophthalmol. 2008. PMID: 17962394

10

ALX4 dysfunction disrupts craniofacial and epidermal development.

Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA. Kayserili H, et al. Hum Mol Genet. 2009 Nov 15;18(22):4357-66. doi: 10.1093/hmg/ddp391. Epub 2009 Aug 19. Hum Mol Genet. 2009. PMID: 19692347

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