Tolun A - Search Results

1

LACC1 Gene Defects in Familial Form of Juvenile Arthritis.

Karacan I, Uğurlu S, Şahin S, Everest E, Kasapçopur Ö, Tolun A, Özdoğan H, Turanli ET. Karacan I, et al. Among authors: tolun a. J Rheumatol. 2018 May;45(5):726-728. doi: 10.3899/jrheum.170834. J Rheumatol. 2018. PMID: 29717096 No abstract available.

2

Other autoinflammatory disease genes in an FMF-prevalent population: a homozygous MVK mutation and a novel heterozygous TNFRSF1A mutation in two different Turkish families with clinical FMF.

Karacan İ, Uğurlu S, Tolun A, Tahir Turanlı E, Ozdogan H. Karacan İ, et al. Among authors: tolun a. Clin Exp Rheumatol. 2017 Nov-Dec;35 Suppl 108(6):75-81. Epub 2017 Oct 27. Clin Exp Rheumatol. 2017. PMID: 29148404

3

A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing.

Karacan İ, Diz Küçükkaya R, Karakuş FN, Solakoğlu S, Tolun A, Hançer VS, Turanlı ET. Karacan İ, et al. Among authors: tolun a. Turk J Haematol. 2019 Feb 7;36(1):29-36. doi: 10.4274/tjh.galenos.2018.2018.0325. Epub 2018 Nov 26. Turk J Haematol. 2019. PMID: 30474613 Free PMC article.

4

A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy.

Erken E, Köroğlu Ç, Yıldız F, Özer HT, Gülek B, Tolun A. Erken E, et al. Among authors: tolun a. Mod Rheumatol. 2015 Mar;25(2):315-21. doi: 10.3109/14397595.2013.874757. Epub 2014 Feb 18. Mod Rheumatol. 2015. PMID: 24533558

5

DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.

Köroğlu Ç, Baysal L, Cetinkaya M, Karasoy H, Tolun A. Köroğlu Ç, et al. Among authors: tolun a. Parkinsonism Relat Disord. 2013 Mar;19(3):320-4. doi: 10.1016/j.parkreldis.2012.11.006. Epub 2012 Dec 2. Parkinsonism Relat Disord. 2013. PMID: 23211418

6

A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures.

Yıldırım Y, Orhan EK, Iseri SA, Serdaroglu-Oflazer P, Kara B, Solakoğlu S, Tolun A. Yıldırım Y, et al. Among authors: tolun a. Hum Mol Genet. 2011 May 15;20(10):1886-92. doi: 10.1093/hmg/ddr070. Epub 2011 Feb 17. Hum Mol Genet. 2011. PMID: 21330303

7

FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems.

Mavioğlu RN, Kara B, Akansel G, Nalbant G, Tolun A. Mavioğlu RN, et al. Among authors: tolun a. Clin Genet. 2019 Nov;96(5):456-460. doi: 10.1111/cge.13612. Epub 2019 Aug 6. Clin Genet. 2019. PMID: 31353455

8

Adult phenotype and further phenotypic variability in SRD5A3-CDG.

Kara B, Ayhan Ö, Gökçay G, Başboğaoğlu N, Tolun A. Kara B, et al. Among authors: tolun a. BMC Med Genet. 2014 Jan 16;15:10. doi: 10.1186/1471-2350-15-10. BMC Med Genet. 2014. PMID: 24433453 Free PMC article.

9

Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.

Yıldız Bölükbaşı E, Mumtaz S, Afzal M, Woehlbier U, Malik S, Tolun A. Yıldız Bölükbaşı E, et al. Among authors: tolun a. J Med Genet. 2018 Mar;55(3):189-197. doi: 10.1136/jmedgenet-2017-104758. Epub 2017 Nov 10. J Med Genet. 2018. PMID: 29127258

10

A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract.

Ugur SA, Tolun A. Ugur SA, et al. Among authors: tolun a. Eur J Hum Genet. 2008 Feb;16(2):261-4. doi: 10.1038/sj.ejhg.5201935. Epub 2007 Oct 10. Eur J Hum Genet. 2008. PMID: 17928815

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