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Items: 1 to 50 of 95

1.

Effect of different microencapsulating materials and relative humidities on storage stability of microencapsulated grape pomace extract.

Tolun A, Artik N, Altintas Z.

Food Chem. 2020 Jan 1;302:125347. doi: 10.1016/j.foodchem.2019.125347. Epub 2019 Aug 12.

PMID:
31430631
2.

Regulation of mitochondrial metabolism in murine skeletal muscle by the medium-chain fatty acid receptor Gpr84.

Montgomery MK, Osborne B, Brandon AE, O'Reilly L, Fiveash CE, Brown SHJ, Wilkins BP, Samsudeen A, Yu J, Devanapalli B, Hertzog A, Tolun AA, Kavanagh T, Cooper AA, Mitchell TW, Biden TJ, Smith NJ, Cooney GJ, Turner N.

FASEB J. 2019 Nov;33(11):12264-12276. doi: 10.1096/fj.201900234R. Epub 2019 Aug 15.

PMID:
31415180
3.

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

Mavioğlu RN, Kara B, Akansel G, Nalbant G, Tolun A.

Clin Genet. 2019 Nov;96(5):456-460. doi: 10.1111/cge.13612. Epub 2019 Aug 6.

PMID:
31353455
4.

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.

Turk J Haematol. 2019 Feb 7;36(1):29-36. doi: 10.4274/tjh.galenos.2018.2018.0325. Epub 2018 Nov 26.

5.

Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Sharer JD, De Biase I, Matern D, Young S, Bennett MJ, Tolun AA; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2018 Dec;20(12):1499-1507. doi: 10.1038/s41436-018-0328-6. Epub 2018 Oct 19.

PMID:
30459394
6.

STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16.

Turkgenc B, Sanlidag B, Eker A, Giray A, Kutuk O, Yakicier C, Tolun A, Temel SG.

Hum Mutat. 2018 Oct;39(10):1344-1348. doi: 10.1002/humu.23601. Epub 2018 Aug 22.

PMID:
30058754
7.

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.

J Rheumatol. 2018 May;45(5):726-728. doi: 10.3899/jrheum.170834. No abstract available.

PMID:
29717096
8.

Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.

Yıldırım Y, Ouriachi T, Woehlbier U, Ouahioune W, Balkan M, Malik S, Tolun A.

Eur J Hum Genet. 2018 Jun;26(6):876-885. doi: 10.1038/s41431-018-0121-7. Epub 2018 Mar 26.

9.

Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly.

Shabbir RMK, Nalbant G, Ahmad N, Malik S, Tolun A.

J Med Genet. 2018 Jul;55(7):489-496. doi: 10.1136/jmedgenet-2017-105003. Epub 2018 Mar 7.

PMID:
29514872
10.

WNT10B mutations associated with isolated dental anomalies.

Kantaputra PN, Hutsadaloi A, Kaewgahya M, Intachai W, German R, Koparal M, Leethanakul C, Tolun A, Ketudat Cairns JR.

Clin Genet. 2018 May;93(5):992-999. doi: 10.1111/cge.13218. Epub 2018 Mar 2.

PMID:
29364501
11.

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.

Clin Exp Rheumatol. 2017 Nov-Dec;35 Suppl 108(6):75-81. Epub 2017 Oct 27.

PMID:
29148404
12.

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.

J Med Genet. 2018 Mar;55(3):189-197. doi: 10.1136/jmedgenet-2017-104758. Epub 2017 Nov 10.

PMID:
29127258
13.

Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.

Yıldız Bölükbaşı E, Afzal M, Mumtaz S, Ahmad N, Malik S, Tolun A.

Am J Med Genet A. 2017 Sep;173(9):2494-2499. doi: 10.1002/ajmg.a.38332. Epub 2017 Jun 21.

PMID:
28636205
14.

Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation.

Mumtaz S, Yıldız E, Lal K, Tolun A, Malik S.

Eur J Med Genet. 2017 May;60(5):268-274. doi: 10.1016/j.ejmg.2017.03.004. Epub 2017 Mar 14.

PMID:
28315472
15.

Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.

Kara B, Köroğlu Ç, Peltonen K, Steinberg RC, Maraş Genç H, Hölttä-Vuori M, Güven A, Kanerva K, Kotil T, Solakoğlu S, Zhou Y, Olkkonen VM, Ikonen E, Laiho M, Tolun A.

Eur J Hum Genet. 2017 Feb;25(3):315-323. doi: 10.1038/ejhg.2016.183. Epub 2017 Jan 4.

16.

Microencapsulation of grape polyphenols using maltodextrin and gum arabic as two alternative coating materials: Development and characterization.

Tolun A, Altintas Z, Artik N.

J Biotechnol. 2016 Dec 10;239:23-33. doi: 10.1016/j.jbiotec.2016.10.001. Epub 2016 Oct 5.

PMID:
27720817
17.

Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice.

Durmuş H, Ayhan Ö, Çırak S, Deymeer F, Parman Y, Franke A, Eiber N, Chevessier F, Schlötzer-Schrehardt U, Clemen CS, Hashemolhosseini S, Schröder R, Hemmrich-Stanisak G, Tolun A, Serdaroğlu-Oflazer P.

Neurology. 2016 Aug 23;87(8):799-805. doi: 10.1212/WNL.0000000000003004. Epub 2016 Jul 20.

PMID:
27440146
18.

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM.

Neurology. 2016 Jul 5;87(1):77-85. doi: 10.1212/WNL.0000000000002807. Epub 2016 Jun 8.

19.

A role of autophagy in spinocerebellar ataxia-Rare exception or general principle?

Burmeister M, Lee JH, Schulman BA, Yapici Z, Tolun A, Juhasz G, Li JZ, Klionsky DJ.

Autophagy. 2016 Jul 2;12(7):1208-9. doi: 10.1080/15548627.2016.1170266. Epub 2016 Apr 22. No abstract available.

20.

Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.

Kim M, Sandford E, Gatica D, Qiu Y, Liu X, Zheng Y, Schulman BA, Xu J, Semple I, Ro SH, Kim B, Mavioglu RN, Tolun A, Jipa A, Takats S, Karpati M, Li JZ, Yapici Z, Juhasz G, Lee JH, Klionsky DJ, Burmeister M.

Elife. 2016 Jan 26;5. pii: e12245. doi: 10.7554/eLife.12245.

21.

DETECTING PORCN MICRODELETIONS IN A LARGE FAMILY WITH FOCAL DERMAL HYPOPLASIA.

Seven M, Güven A, Bozoğlu TM, Tolun A.

Genet Couns. 2015;26(2):195-204.

PMID:
26349189
22.

RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.

Mumtaz S, Yıldız E, Jabeen S, Khan A, Tolun A, Malik S.

Am J Med Genet A. 2015 Dec;167A(12):3148-52. doi: 10.1002/ajmg.a.37299. Epub 2015 Sep 3.

PMID:
26333564
23.

Large-scale recent expansion of European patrilineages shown by population resequencing.

Batini C, Hallast P, Zadik D, Delser PM, Benazzo A, Ghirotto S, Arroyo-Pardo E, Cavalleri GL, de Knijff P, Dupuy BM, Eriksen HA, King TE, de Munain AL, López-Parra AM, Loutradis A, Milasin J, Novelletto A, Pamjav H, Sajantila A, Tolun A, Winney B, Jobling MA.

Nat Commun. 2015 May 19;6:7152. doi: 10.1038/ncomms8152.

24.

Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening.

Chien YH, Goldstein JL, Hwu WL, Smith PB, Lee NC, Chiang SC, Tolun AA, Zhang H, Vaisnins AE, Millington DS, Kishnani PS, Young SP.

JIMD Rep. 2015;19:67-73. doi: 10.1007/8904_2014_366. Epub 2015 Feb 15.

25.

Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.

Yüceyar N, Ayhan Ö, Karasoy H, Tolun A.

Neuromuscul Disord. 2015 Apr;25(4):340-4. doi: 10.1016/j.nmd.2015.01.007. Epub 2015 Jan 26.

PMID:
25666907
26.

Is the novel SCKL3 at 14q23 the predominant Seckel locus?

Mo K, Vn N, Sa U, B T, M S, S B, J G, A T.

Eur J Hum Genet. 2015 Jan;23(1):140. doi: 10.1038/ejhg.2014.258. No abstract available.

27.

The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades.

Hallast P, Batini C, Zadik D, Maisano Delser P, Wetton JH, Arroyo-Pardo E, Cavalleri GL, de Knijff P, Destro Bisol G, Dupuy BM, Eriksen HA, Jorde LB, King TE, Larmuseau MH, López de Munain A, López-Parra AM, Loutradis A, Milasin J, Novelletto A, Pamjav H, Sajantila A, Schempp W, Sears M, Tolun A, Tyler-Smith C, Van Geystelen A, Watkins S, Winney B, Jobling MA.

Mol Biol Evol. 2015 Mar;32(3):661-73. doi: 10.1093/molbev/msu327. Epub 2014 Dec 2.

28.

Novel recessive cone-rod dystrophy caused by POC1B mutation.

Durlu YK, Köroğlu Ç, Tolun A.

JAMA Ophthalmol. 2014 Oct;132(10):1185-91. doi: 10.1001/jamaophthalmol.2014.1658.

PMID:
24945461
29.

Involvement of calcitonin gene-related peptide and receptor component protein in experimental autoimmune encephalomyelitis.

Sardi C, Zambusi L, Finardi A, Ruffini F, Tolun AA, Dickerson IM, Righi M, Zacchetti D, Grohovaz F, Provini L, Furlan R, Morara S.

J Neuroimmunol. 2014 Jun 15;271(1-2):18-29. doi: 10.1016/j.jneuroim.2014.03.008. Epub 2014 Mar 19.

30.

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.

Mod Rheumatol. 2015 Mar;25(2):315-21. doi: 10.3109/14397595.2013.874757. Epub 2014 Feb 18.

PMID:
24533558
31.

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG.

Science. 2014 Jan 31;343(6170):506-511. doi: 10.1126/science.1247363.

32.

Adult phenotype and further phenotypic variability in SRD5A3-CDG.

Kara B, Ayhan Ö, Gökçay G, Başboğaoğlu N, Tolun A.

BMC Med Genet. 2014 Jan 16;15:10. doi: 10.1186/1471-2350-15-10.

33.

Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia.

Ayhan Ö, Balkan M, Guven A, Hazan R, Atar M, Tok A, Tolun A.

J Med Genet. 2014 Apr;51(4):239-44. doi: 10.1136/jmedgenet-2013-102102. Epub 2014 Jan 15.

PMID:
24431330
34.

A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family.

Yıldırım Y, Kerem M, Köroğlu Ç, Tolun A.

Eur J Hum Genet. 2014 Mar;22(3):333-7. doi: 10.1038/ejhg.2013.138. Epub 2013 Jul 17.

35.

Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.

Köroğlu Ç, Seven M, Tolun A.

J Med Genet. 2013 Aug;50(8):515-20. doi: 10.1136/jmedgenet-2013-101634. Epub 2013 Jun 7.

PMID:
23749988
36.

TBC1D24 truncating mutation resulting in severe neurodegeneration.

Guven A, Tolun A.

J Med Genet. 2013 Mar;50(3):199-202. doi: 10.1136/jmedgenet-2012-101313. Epub 2013 Jan 23.

PMID:
23343562
37.

Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.

Sun B, Fredrickson K, Austin S, Tolun AA, Thurberg BL, Kraus WE, Bali D, Chen YT, Kishnani PS.

Mol Genet Metab. 2013 Feb;108(2):145-7. doi: 10.1016/j.ymgme.2012.12.002. Epub 2012 Dec 27.

PMID:
23318145
38.

DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.

Köroğlu Ç, Baysal L, Cetinkaya M, Karasoy H, Tolun A.

Parkinsonism Relat Disord. 2013 Mar;19(3):320-4. doi: 10.1016/j.parkreldis.2012.11.006. Epub 2012 Dec 2.

PMID:
23211418
39.

Systemic oxidative stress, as measured by urinary allantoin and F(2)-isoprostanes, is not increased in Down syndrome.

Tolun AA, Scarbrough PM, Zhang H, McKillop JA, Wang F, Kishnani PS, Millington DS, Young SP, Il'yasova D.

Ann Epidemiol. 2012 Dec;22(12):892-4. doi: 10.1016/j.annepidem.2012.09.005. Epub 2012 Oct 11.

40.

Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly.

Guven A, Gunduz A, Bozoglu TM, Yalcinkaya C, Tolun A.

Neurogenetics. 2012 Aug;13(3):189-94. doi: 10.1007/s10048-012-0326-9. Epub 2012 Apr 15.

PMID:
22526350
41.

Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype-specific manner.

Clark PJ, Thompson AJ, Vock DM, Kratz LE, Tolun AA, Muir AJ, McHutchison JG, Subramanian M, Millington DM, Kelley RI, Patel K.

Hepatology. 2012 Jul;56(1):49-56. doi: 10.1002/hep.25631. Epub 2012 Jun 5.

PMID:
22318926
42.

A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.

Tolun AA, Graham C, Shi Q, Sista RS, Wang T, Eckhardt AE, Pamula VK, Millington DS, Bali DS.

Mol Genet Metab. 2012 Mar;105(3):519-21. doi: 10.1016/j.ymgme.2011.12.011. Epub 2011 Dec 21.

PMID:
22227323
43.

A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.

Lohmann E, Köroğlu Ç, Hanagasi HA, Dursun B, Taşan E, Tolun A.

Parkinsonism Relat Disord. 2012 Feb;18(2):191-3. doi: 10.1016/j.parkreldis.2011.10.001. Epub 2011 Oct 21.

PMID:
22018912
44.

Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns.

Sista RS, Eckhardt AE, Wang T, Graham C, Rouse JL, Norton SM, Srinivasan V, Pollack MG, Tolun AA, Bali D, Millington DS, Pamula VK.

Clin Chem. 2011 Oct;57(10):1444-51. doi: 10.1373/clinchem.2011.163139. Epub 2011 Aug 22.

45.

Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.

Bali DS, Tolun AA, Goldstein JL, Dai J, Kishnani PS.

Muscle Nerve. 2011 May;43(5):665-70. doi: 10.1002/mus.21933.

PMID:
21484825
46.

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.

Hum Mol Genet. 2011 May 15;20(10):1886-92. doi: 10.1093/hmg/ddr070. Epub 2011 Feb 17.

PMID:
21330303
47.

The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2.

Yildirim Y, Tolun A, Tüysüz B.

Am J Med Genet A. 2011 Jan;155A(1):134-40. doi: 10.1002/ajmg.a.33747. Epub 2010 Dec 9.

PMID:
21204221
48.

Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3.

Duru N, Iseri SA, Selçuk N, Tolun A.

J Neurogenet. 2010 Dec;24(4):207-15. doi: 10.3109/01677063.2010.514368.

PMID:
21087195
49.

Individual responses to chemotherapy-induced oxidative stress.

Il'yasova D, Kennedy K, Spasojevic I, Wang F, Tolun AA, Base K, Young SP, Kelly Marcom P, Marks J, Millington DS, Dewhirst MW.

Breast Cancer Res Treat. 2011 Jan;125(2):583-9. doi: 10.1007/s10549-010-1158-7. Epub 2010 Sep 10.

50.

Control of ciliogenesis by FOR20, a novel centrosome and pericentriolar satellite protein.

Sedjaï F, Acquaviva C, Chevrier V, Chauvin JP, Coppin E, Aouane A, Coulier F, Tolun A, Pierres M, Birnbaum D, Rosnet O.

J Cell Sci. 2010 Jul 15;123(Pt 14):2391-401. doi: 10.1242/jcs.065045. Epub 2010 Jun 15. Erratum in: J Cell Sci. 2010 Jul 15;123(Pt 14):2521.

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