Karaca E - Search Results

1

Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation.

Yuksel A, Karaca E, Albayram MS. Yuksel A, et al. Among authors: karaca e. J Child Neurol. 2009 Jan;24(1):93-6. doi: 10.1177/0883073808321047. J Child Neurol. 2009. PMID: 19168822

2

Marked improvement in Segawa syndrome after L-dopa and selegiline treatment.

Yosunkaya E, Karaca E, Basaran S, Seven M, Yüksel A. Yosunkaya E, et al. Among authors: karaca e. Pediatr Neurol. 2010 May;42(5):348-50. doi: 10.1016/j.pediatrneurol.2010.01.008. Pediatr Neurol. 2010. PMID: 20399390

3

A new syndrome presenting with dysmorphic facies, oculocutaneous albinism, glaucoma, cryptorchidism and mental retardation.

Seven M, Yosunkaya E, Yilmaz SB, Karaca E, Guven G, Yuksel A. Seven M, et al. Among authors: karaca e. Genet Couns. 2011;22(1):25-34. Genet Couns. 2011. PMID: 21614985

4

Sudden vision loss in a mucopolysaccharidosis I patient receiving enzyme replacement therapy.

Yosunkaya E, Karaca E, Yilmaz SB, Gezdirici A, Guven G, Seven M, Yuksel A. Yosunkaya E, et al. Among authors: karaca e. Genet Couns. 2011;22(4):371-6. Genet Couns. 2011. PMID: 22303797

5

Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder.

Karaca E, Karakoc-Aydiner E, Bayrak OF, Keles S, Sevli S, Barlan IB, Yuksel A, Chatila TA, Ozen M. Karaca E, et al. Gene. 2013 Jan 10;512(2):189-93. doi: 10.1016/j.gene.2012.10.062. Epub 2012 Nov 2. Gene. 2013. PMID: 23124046 Clinical Trial.

6

Circumferential skin folds and multiple anomalies: confirmation of a distinct autosomal recessive Michelin tire baby syndrome.

Ulucan H, Koparir E, Koparir A, Karaca E, Emre R, Gezdirici A, Yosunkaya E, Seven M, Ozen M, Yuksel A. Ulucan H, et al. Among authors: karaca e. Clin Dysmorphol. 2013 Apr;22(2):87-90. doi: 10.1097/MCD.0b013e32835cd5df. Clin Dysmorphol. 2013. PMID: 23324645 No abstract available.

7

MicroRNA profiling in lymphocytes and serum of tyrosinemia type-I patients.

Karatas OF, Guzel E, Karaca E, Sevli S, Soyucen E, Yuksel A, Ozen M. Karatas OF, et al. Among authors: karaca e. Mol Biol Rep. 2013 Jul;40(7):4619-23. doi: 10.1007/s11033-013-2555-x. Epub 2013 May 7. Mol Biol Rep. 2013. PMID: 23649765

8

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.

Karaca E, Weitzer S, Pehlivan D, Shiraishi H, Gogakos T, Hanada T, Jhangiani SN, Wiszniewski W, Withers M, Campbell IM, Erdin S, Isikay S, Franco LM, Gonzaga-Jauregui C, Gambin T, Gelowani V, Hunter JV, Yesil G, Koparir E, Yilmaz S, Brown M, Briskin D, Hafner M, Morozov P, Farazi TA, Bernreuther C, Glatzel M, Trattnig S, Friske J, Kronnerwetter C, Bainbridge MN, Gezdirici A, Seven M, Muzny DM, Boerwinkle E, Ozen M; Baylor Hopkins Center for Mendelian Genomics; Clausen T, Tuschl T, Yuksel A, Hess A, Gibbs RA, Martinez J, Penninger JM, Lupski JR. Karaca E, et al. Cell. 2014 Apr 24;157(3):636-50. doi: 10.1016/j.cell.2014.02.058. Cell. 2014. PMID: 24766809 Free PMC article.

9

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, Aksoy A, De Vivo DC, Jain P, Geckinli BB, Sezer O, Gul D, Durmaz B, Cogulu O, Ozkinay F, Topcu V, Candan S, Cebi AH, Ikbal M, Yilmaz Gulec E, Gezdirici A, Koparir E, Ekici F, Coskun S, Cicek S, Karaer K, Koparir A, Duz MB, Kirat E, Fenercioglu E, Ulucan H, Seven M, Guran T, Elcioglu N, Yildirim MS, Aktas D, Alikaşifoğlu M, Ture M, Yakut T, Overton JD, Yuksel A, Ozen M, Muzny DM, Adams DR, Boerwinkle E, Chung WK, Gibbs RA, Lupski JR. Karaca E, et al. Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048. Neuron. 2015. PMID: 26539891 Free PMC article.

10

Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

Bayram Y, Aydin H, Gambin T, Akdemir ZC, Atik MM, Karaca E, Karaman A, Pehlivan D, Jhangiani SN, Gibbs RA, Lupski JR. Bayram Y, et al. Among authors: karaca e. Am J Med Genet A. 2015 Sep;167A(9):2132-7. doi: 10.1002/ajmg.a.37092. Epub 2015 Apr 6. Am J Med Genet A. 2015. PMID: 25846457 Free PMC article.

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