Akarsu N - Search Results

1

Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36.

Zguricas J, Heus H, Morales-Peralta E, Breedveld G, Kuyt B, Mumcu EF, Bakker W, Akarsu N, Kay SP, Hovius SE, Heredero-Baute L, Oostra BA, Heutink P. Zguricas J, et al. Among authors: akarsu n. J Med Genet. 1999 Jan;36(1):32-40. J Med Genet. 1999. PMID: 9950363 Free PMC article.

2

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly.

Lettice LA, Horikoshi T, Heaney SJ, van Baren MJ, van der Linde HC, Breedveld GJ, Joosse M, Akarsu N, Oostra BA, Endo N, Shibata M, Suzuki M, Takahashi E, Shinka T, Nakahori Y, Ayusawa D, Nakabayashi K, Scherer SW, Heutink P, Hill RE, Noji S. Lettice LA, et al. Among authors: akarsu n. Proc Natl Acad Sci U S A. 2002 May 28;99(11):7548-53. doi: 10.1073/pnas.112212199. Proc Natl Acad Sci U S A. 2002. PMID: 12032320 Free PMC article.

3

A large family with type IV radial polydactyly.

Seyhan A, Akarsu N, Keskin F. Seyhan A, et al. Among authors: akarsu n. J Hand Surg Br. 1998 Aug;23(4):530-3. doi: 10.1016/s0266-7681(98)80139-3. J Hand Surg Br. 1998. PMID: 9726561

4

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

5

Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3.

Malik S, Percin FE, Ahmad W, Percin S, Akarsu NA, Koch MC, Grzeschik KH. Malik S, et al. Am J Med Genet A. 2005 May 1;134(4):404-8. doi: 10.1002/ajmg.a.30656. Am J Med Genet A. 2005. PMID: 15779011

6

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.

van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin EF, Akarsu N, Brunner HG. van Bokhoven H, et al. Among authors: akarsu n. Nat Genet. 2000 Aug;25(4):423-6. doi: 10.1038/78113. Nat Genet. 2000. PMID: 10932187

7

A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7.

Bayrak-Toydemir P, McDonald J, Akarsu N, Toydemir RM, Calderon F, Tuncali T, Tang W, Miller F, Mao R. Bayrak-Toydemir P, et al. Among authors: akarsu n. Am J Med Genet A. 2006 Oct 15;140(20):2155-62. doi: 10.1002/ajmg.a.31450. Am J Med Genet A. 2006. PMID: 16969873

8

An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree.

Radhakrishna U, Senol S, Herken H, Gucuyener K, Gehrig C, Blouin JL, Akarsu NA, Antonarakis SE. Radhakrishna U, et al. Among authors: akarsu na. Eur J Hum Genet. 2001 Jan;9(1):39-44. doi: 10.1038/sj.ejhg.5200584. Eur J Hum Genet. 2001. PMID: 11175298

9

Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling.

Cetinkaya A, Xiong JR, Vargel İ, Kösemehmetoğlu K, Canter Hİ, Gerdan ÖF, Longo N, Alzahrani A, Camps MP, Taskiran EZ, Laupheimer S, Botto LD, Paramalingam E, Gormez Z, Uz E, Yuksel B, Ruacan Ş, Sağıroğlu MŞ, Takahashi T, Reversade B, Akarsu NA. Cetinkaya A, et al. Among authors: akarsu na. Am J Hum Genet. 2016 Aug 4;99(2):299-317. doi: 10.1016/j.ajhg.2016.06.008. Epub 2016 Jul 28. Am J Hum Genet. 2016. PMID: 27476657 Free PMC article.

10

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.

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