Tuysuz B - Search Results

1

Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia.

Sass JO, Gunduz A, Araujo Rodrigues Funayama C, Korkmaz B, Dantas Pinto KG, Tuysuz B, Yanasse Dos Santos L, Taskiran E, de Fátima Turcato M, Lam CW, Reiss J, Walter M, Yalcinkaya C, Camelo Junior JS. Sass JO, et al. Among authors: tuysuz b. Brain Dev. 2010 Aug;32(7):544-9. doi: 10.1016/j.braindev.2009.09.005. Epub 2009 Sep 29. Brain Dev. 2010. PMID: 19793632

2

Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation.

Tüysüz B, Goldin E, Metin B, Korkmaz B, Yalçinkaya C. Tüysüz B, et al. Brain Dev. 2009 Oct;31(9):702-5. doi: 10.1016/j.braindev.2008.10.001. Epub 2008 Nov 8. Brain Dev. 2009. PMID: 19006653

3

Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene.

Tüysüz B, Kasapçopur O, Yalçınkaya C, Işık Haşıloğlu Z, Knappskog PM, Boman H. Tüysüz B, et al. Brain Dev. 2013 Jun;35(6):596-601. doi: 10.1016/j.braindev.2012.08.011. Epub 2012 Sep 29. Brain Dev. 2013. PMID: 23026229

4

Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population.

Tüysüz B, Bayrakli F, DiLuna ML, Bilguvar K, Bayri Y, Yalcinkaya C, Bursali A, Ozdamar E, Korkmaz B, Mason CE, Ozturk AK, Lifton RP, State MW, Gunel M. Tüysüz B, et al. Neurogenetics. 2008 May;9(2):119-25. doi: 10.1007/s10048-008-0121-9. Epub 2008 Mar 6. Neurogenetics. 2008. PMID: 18322713

5

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.

Kolb LE, Arlier Z, Yalcinkaya C, Ozturk AK, Moliterno JA, Erturk O, Bayrakli F, Korkmaz B, DiLuna ML, Yasuno K, Bilguvar K, Ozcelik T, Tuysuz B, State MW, Gunel M. Kolb LE, et al. Among authors: tuysuz b. Neurogenetics. 2010 Jul;11(3):319-25. doi: 10.1007/s10048-009-0232-y. Epub 2010 Jan 15. Neurogenetics. 2010. PMID: 20082205

6

Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI).

Arlier Z, Bayri Y, Kolb LE, Erturk O, Ozturk AK, Bayrakli F, Bilguvar K, Moliterno JA, Dervent A, Demirbilek V, Yalcinkaya C, Korkmaz B, Tuysuz B, Gunel M. Arlier Z, et al. Among authors: tuysuz b. J Child Neurol. 2010 Oct;25(10):1265-8. doi: 10.1177/0883073809357241. Epub 2010 Jan 28. J Child Neurol. 2010. PMID: 20110217

7

A patient with Duchenne muscular dystrophy and autism demonstrates a hemizygous deletion affecting Dystrophin.

Erturk O, Bilguvar K, Korkmaz B, Bayri Y, Bayrakli F, Arlier Z, Ozturk AK, Yalcinkaya C, Tuysuz B, State MW, Gunel M. Erturk O, et al. Among authors: tuysuz b. Am J Med Genet A. 2010 Apr;152A(4):1039-42. doi: 10.1002/ajmg.a.33312. Am J Med Genet A. 2010. PMID: 20358624 No abstract available.

8

Chromosome 14q11.2-q21.1 duplication: a rare cause of West syndrome.

Çetin ÖE, Yalçınkaya C, Karaman B, Demirbilek V, Tüysüz B. Çetin ÖE, et al. Among authors: tuysuz b. Epileptic Disord. 2018 Jun 1;20(3):219-224. doi: 10.1684/epd.2018.0972. Epileptic Disord. 2018. PMID: 29905153

9

Unilateral cerebellar hypoplasia with different clinical features.

Benbir G, Kara S, Yalcinkaya BC, Karhkaya G, Tuysuz B, Kocer N, Yalcinkaya C. Benbir G, et al. Among authors: tuysuz b. Cerebellum. 2011 Mar;10(1):49-60. doi: 10.1007/s12311-010-0225-2. Cerebellum. 2011. PMID: 20967575

10

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.

Tüysüz B, Bilguvar K, Koçer N, Yalçınkaya C, Çağlayan O, Gül E, Sahin S, Çomu S, Günel M. Tüysüz B, et al. Am J Med Genet A. 2014 Jul;164A(7):1677-85. doi: 10.1002/ajmg.a.36514. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700674

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