Akarsu AN - Search Results

1

Clinical observations in autosomal recessive spastic paraplegia in childhood and further evidence for genetic heterogeneity.

Topaloğlu H, Pinarli G, Erdem H, Gücüyener K, Karaduman A, Topçu M, Akarsu AN, Ozgüç M. Topaloğlu H, et al. Among authors: akarsu an. Neuropediatrics. 1998 Aug;29(4):189-94. doi: 10.1055/s-2007-973559. Neuropediatrics. 1998. PMID: 9762694

2

Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis.

Dökmeci-Emre S, Taşkıran ZE, Yüzbaşıoğlu A, Önal G, Akarsu AN, Karaduman A, Özgüç M. Dökmeci-Emre S, et al. Among authors: akarsu an. Turk J Pediatr. 2017;59(4):475-482. doi: 10.24953/turkjped.2017.04.017. Turk J Pediatr. 2017. PMID: 29624231 Free article.

3

A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12.

Sener EC, Lee BA, Turgut B, Akarsu AN, Engle EC. Sener EC, et al. Among authors: akarsu an. Arch Ophthalmol. 2000 Aug;118(8):1090-7. doi: 10.1001/archopht.118.8.1090. Arch Ophthalmol. 2000. PMID: 10922204

4

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.

5

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

6

Is vitamin D hypothesis for schizophrenia valid? Independent segregation of psychosis in a family with vitamin-D-dependent rickets type IIA.

Ozer S, Uluşahin A, Ulusoy S, Okur H, Coşkun T, Tuncali T, Göğüş A, Akarsu AN. Ozer S, et al. Among authors: akarsu an. Prog Neuropsychopharmacol Biol Psychiatry. 2004 Mar;28(2):255-66. doi: 10.1016/j.pnpbp.2003.10.002. Prog Neuropsychopharmacol Biol Psychiatry. 2004. PMID: 14751420

7

Hereditary intraosseous vascular malformation of the craniofacial region: an apparently novel disorder.

Vargel I, Cil BE, Er N, Ruacan S, Akarsu AN, Erk Y. Vargel I, et al. Among authors: akarsu an. Am J Med Genet. 2002 Apr 15;109(1):22-35. doi: 10.1002/ajmg.10282. Am J Med Genet. 2002. PMID: 11932989

8

Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity.

Sarfarazi M, Akarsu AN, Hossain A, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS. Sarfarazi M, et al. Among authors: akarsu an. Genomics. 1995 Nov 20;30(2):171-7. doi: 10.1006/geno.1995.9888. Genomics. 1995. PMID: 8586416

9

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.

10

BIGH3 gene analysis in the differential diagnosis of corneal dystrophies.

Kocak-Altintas AG, Kocak-Midillioglu I, Akarsu AN, Duman S. Kocak-Altintas AG, et al. Among authors: akarsu an. Cornea. 2001 Jan;20(1):64-8. doi: 10.1097/00003226-200101000-00013. Cornea. 2001. PMID: 11189007

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