Akarsu AN - Search Results

1

X-linked recessive inheritance of radial ray deficiencies in a family with four affected males.

Galjaard RJ, Kostakoglu N, Hoogeboom JJ, Breedveld GJ, van der Linde HC, Hovius SE, Oostra BA, Sandkuijl LA, Akarsu AN, Heutink P. Galjaard RJ, et al. Among authors: akarsu an. Eur J Hum Genet. 2001 Sep;9(9):653-8. doi: 10.1038/sj.ejhg.5200692. Eur J Hum Genet. 2001. PMID: 11571552 Review.

2

Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I?

Percin EF, Percin S, Egilmez H, Sezgin I, Ozbas F, Akarsu AN. Percin EF, et al. Among authors: akarsu an. J Med Genet. 1998 Oct;35(10):868-74. doi: 10.1136/jmg.35.10.868. J Med Genet. 1998. PMID: 9783716 Free PMC article.

3

Phenotypic variability of triphalangeal thumb-polysyndactyly syndrome linked to chromosome 7q36.

Balci S, Demirtas M, Civelek B, Piskin M, Sensoz O, Akarsu AN. Balci S, et al. Among authors: akarsu an. Am J Med Genet. 1999 Dec 22;87(5):399-406. Am J Med Genet. 1999. PMID: 10594878

4

A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region.

Akarsu AN, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS, Sarfarazi M. Akarsu AN, et al. Hum Mol Genet. 1996 Aug;5(8):1199-203. doi: 10.1093/hmg/5.8.1199. Hum Mol Genet. 1996. PMID: 8842741

5

Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker.

Sarfarazi M, Akarsu AN, Sayli BS. Sarfarazi M, et al. Among authors: akarsu an. Hum Mol Genet. 1995 Aug;4(8):1453-8. doi: 10.1093/hmg/4.8.1453. Hum Mol Genet. 1995. PMID: 7581388

6

Genetic linkage study of familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity in the Turkish population.

Akarsu AN, Saatci U, Ozen S, Bakkaloglu A, Besbas N, Sarfarazi M. Akarsu AN, et al. J Med Genet. 1997 Jul;34(7):573-8. doi: 10.1136/jmg.34.7.573. J Med Genet. 1997. PMID: 9222966 Free PMC article.

7

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

Yamada K, Andrews C, Chan WM, McKeown CA, Magli A, de Berardinis T, Loewenstein A, Lazar M, O'Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, Del Monte M, Johnson RH, Uyama E, Houtman WA, de Vries B, Carlow TJ, Hart BL, Krawiecki N, Shoffner J, Vogel MC, Katowitz J, Goldstein SM, Levin AV, Sener EC, Ozturk BT, Akarsu AN, Brodsky MC, Hanisch F, Cruse RP, Zubcov AA, Robb RM, Roggenkäemper P, Gottlob I, Kowal L, Battu R, Traboulsi EI, Franceschini P, Newlin A, Demer JL, Engle EC. Yamada K, et al. Among authors: akarsu an. Nat Genet. 2003 Dec;35(4):318-21. doi: 10.1038/ng1261. Epub 2003 Nov 2. Nat Genet. 2003. PMID: 14595441

8

Nasopalpebral lipoma-coloboma syndrome.

Akarsu AN, Sayli BS. Akarsu AN, et al. Clin Genet. 1991 Nov;40(5):342-4. doi: 10.1111/j.1399-0004.1991.tb03106.x. Clin Genet. 1991. PMID: 1756608

9

A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data.

Sayli BS, Akarsu AN, Sayli U, Akhan O, Ceylaner S, Sarfarazi M. Sayli BS, et al. Among authors: akarsu an. J Med Genet. 1995 Jun;32(6):421-34. doi: 10.1136/jmg.32.6.421. J Med Genet. 1995. PMID: 7666393 Free PMC article.

10

A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?

Akarsu AN, Akhan O, Sayli BS, Sayli U, Baskaya G, Sarfarazi M. Akarsu AN, et al. J Med Genet. 1995 Jun;32(6):435-41. doi: 10.1136/jmg.32.6.435. J Med Genet. 1995. PMID: 7666394 Free PMC article.

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