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Items: 12

1.

Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.

Guleray N, Kosukcu C, Taskiran ZE, Simsek Kiper PO, Utine GE, Gucer S, Tokatli A, Boduroglu K, Alikasifoglu M.

Fetal Pediatr Pathol. 2019 Jul 15:1-9. doi: 10.1080/15513815.2019.1639089. [Epub ahead of print]

PMID:
31303091
2.

Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

Simsek-Kiper PO, Taskiran E, Kosukcu C, Arslan UE, Cormier-Daire V, Gonc N, Ozon A, Alikasifoglu A, Kandemir N, Utine GE, Alanay Y, Alikasifoglu M, Boduroglu K.

Am J Med Genet A. 2019 Jul;179(7):1157-1172. doi: 10.1002/ajmg.a.61154. Epub 2019 Apr 13.

PMID:
30980518
3.

A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet's Disease.

Taskiran EZ, Sonmez HE, Kosukcu C, Tavukcuoglu E, Yazici G, Esendagli G, Batu ED, Kiper POS, Bilginer Y, Alikasifoglu M, Ozen S.

J Clin Immunol. 2019 Jan;39(1):99-105. doi: 10.1007/s10875-018-0587-7. Epub 2019 Jan 8.

PMID:
30617623
4.

Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.

Akgün Doğan Ö, Demir GÜ, Kosukcu C, Taskiran EZ, Simsek-Kiper PÖ, Utine GE, Alikaşifoğlu M, Boduroğlu K.

Eur J Med Genet. 2019 Jun;62(6):103535. doi: 10.1016/j.ejmg.2018.09.002. Epub 2018 Sep 11.

PMID:
30217754
5.

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.

Simsek-Kiper PO, Taskiran EZ, Kosukcu C, Urel-Demir G, Akgun-Dogan O, Yilmaz G, Utine GE, Nishimura G, Boduroglu K, Alikasifoglu M.

Am J Med Genet A. 2018 Sep;176(9):2009-2016. doi: 10.1002/ajmg.a.40427. Epub 2018 Jul 31.

PMID:
30063090
6.

Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus.

Batu ED, Koşukcu C, Taşkıran E, Sahin S, Akman S, Sözeri B, Ünsal E, Bilginer Y, Kasapcopur O, Alikaşifoğlu M, Ozen S.

J Rheumatol. 2018 Dec;45(12):1671-1679. doi: 10.3899/jrheum.171358. Epub 2018 Jul 15.

PMID:
30008451
7.

A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate.

Simsek-Kiper PO, Kosukcu C, Akgun-Dogan O, Gocmen R, Utine GE, Soyer T, Korkmaz-Toygar A, Nishimura G, Alikasifoglu M, Boduroglu K.

Eur J Med Genet. 2019 Jan;62(1):21-26. doi: 10.1016/j.ejmg.2018.04.013. Epub 2018 Apr 25.

PMID:
29704686
8.

Hypomorphic RAG1 defect in a child presented with pulmonary hemorrhage and digital necrosis.

Taşkıran EZ, Sönmez HE, Ayvaz DÇ, Koşukcu C, Batu ED, Esenboğa S, Topaloğlu R, Orhan D, Bilginer Y, Alikaşifoğlu M, Özen S, Tezcan İ.

Clin Immunol. 2018 Feb;187:92-94. doi: 10.1016/j.clim.2017.10.010. Epub 2017 Nov 7. No abstract available.

PMID:
29107076
9.

Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.

Taskiran EZ, Karaosmanoglu B, Koşukcu C, Doğan ÖA, Taylan-Şekeroğlu H, Şimşek-Kiper PÖ, Utine EG, Boduroğlu K, Alikaşifoğlu M.

Am J Med Genet A. 2017 Dec;173(12):3143-3152. doi: 10.1002/ajmg.a.38495. Epub 2017 Oct 8.

PMID:
28988429
10.

Neonatal-Onset Recurrent Guillain-Barré Syndrome-Like Disease: Clues for Inherited CD59 Deficiency.

Ardicli D, Taskiran EZ, Kosukcu C, Temucin C, Oguz KK, Haliloglu G, Alikasifoglu M, Topaloglu H.

Neuropediatrics. 2017 Dec;48(6):477-481. doi: 10.1055/s-0037-1604483. Epub 2017 Aug 11. No abstract available.

PMID:
28800659
11.

HERC1 mutations in idiopathic intellectual disability.

Utine GE, Taşkıran EZ, Koşukcu C, Karaosmanoğlu B, Güleray N, Doğan ÖA, Kiper PÖ, Boduroğlu K, Alikaşifoğlu M.

Eur J Med Genet. 2017 May;60(5):279-283. doi: 10.1016/j.ejmg.2017.03.007. Epub 2017 Mar 18.

PMID:
28323226
12.

Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.

Taskiran EZ, Korkmaz E, Gucer S, Kosukcu C, Kaymaz F, Koyunlar C, Bryda EC, Chaki M, Lu D, Vadnagara K, Candan C, Topaloglu R, Schaefer F, Attanasio M, Bergmann C, Ozaltin F.

J Am Soc Nephrol. 2014 Aug;25(8):1653-61. doi: 10.1681/ASN.2013060646. Epub 2014 Mar 7.

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