Gunes N - Search Results

1

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

Chatron N, Becker F, Morsy H, Schmidts M, Hardies K, Tuysuz B, Roselli S, Najafi M, Alkaya DU, Ashrafzadeh F, Nabil A, Omar T, Maroofian R, Karimiani EG, Hussien H, Kok F, Ramos L, Gunes N, Bilguvar K, Labalme A, Alix E, Sanlaville D, de Bellescize J, Poulat AL; EuroEpinomics-RES consortium AR working group; Moslemi AR, Lerche H, May P, Lesca G, Weckhuysen S, Tajsharghi H. Chatron N, et al. Among authors: gunes n. Brain. 2020 May 1;143(5):1447-1461. doi: 10.1093/brain/awaa085. Brain. 2020. PMID: 32282878 Free PMC article.

2

Two novel mutations in XYLT2 cause spondyloocular syndrome.

Taylan F, Yavaş Abalı Z, Jäntti N, Güneş N, Darendeliler F, Baş F, Poyrazoğlu Ş, Tamçelik N, Tüysüz B, Mäkitie O. Taylan F, et al. Among authors: gunes n. Am J Med Genet A. 2017 Dec;173(12):3195-3200. doi: 10.1002/ajmg.a.38470. Epub 2017 Sep 8. Am J Med Genet A. 2017. PMID: 28884924

3

Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1.

Güneş N, Yeşil G, Beng K, Kahraman S, Tüysüz B. Güneş N, et al. Mol Syndromol. 2018 May;9(3):134-140. doi: 10.1159/000488438. Epub 2018 Apr 24. Mol Syndromol. 2018. PMID: 29928178 Free PMC article.

4

A Novel Mutation of KIF11 in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR.

Güneş N, Taşdemir E, Jeffery H, Yetik H, Ostergaard P, Tüysüz B. Güneş N, et al. Mol Syndromol. 2019 Jan;9(5):266-270. doi: 10.1159/000491568. Epub 2018 Jul 20. Mol Syndromol. 2019. PMID: 30733662 Free PMC article.

5

Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype.

Tüysüz B, Alkaya DU, Toksoy G, Güneş N, Yıldırım T, Bayhan İA, Uyguner ZO. Tüysüz B, et al. Among authors: gunes n. Gene. 2019 Jul 1;704:59-67. doi: 10.1016/j.gene.2019.04.026. Epub 2019 Apr 11. Gene. 2019. PMID: 30980944

6

Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta.

Danyukova T, Ludwig NF, Velho RV, Harms FL, Güneş N, Tidow H, Schwartz IV, Tüysüz B, Pohl S. Danyukova T, et al. Among authors: gunes n. Hum Mutat. 2020 Jan;41(1):133-139. doi: 10.1002/humu.23928. Epub 2019 Oct 14. Hum Mutat. 2020. PMID: 31579991

7

A rare intrauterine onset growth retardation syndrome caused by mosaic 19p13.3 microduplication: evaluation of GH/IGF- 1 axis and GH therapy response.

Özer E, Karaman B, Güneş N, Evliyaoğlu O, Tüysüz B. Özer E, et al. Among authors: gunes n. Turk J Pediatr. 2021;63(1):174-180. doi: 10.24953/turkjped.2021.01.022. Turk J Pediatr. 2021. PMID: 33686842 Free article.

8

Investigation of (epi)genotype causes and follow-up manifestations in the patients with classical and atypical phenotype of Beckwith-Wiedemann spectrum.

Tüysüz B, Güneş N, Geyik F, Yeşil G, Celkan T, Vural M. Tüysüz B, et al. Among authors: gunes n. Am J Med Genet A. 2021 Jun;185(6):1721-1731. doi: 10.1002/ajmg.a.62158. Epub 2021 Mar 11. Am J Med Genet A. 2021. PMID: 33704912

9

Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients.

Güneş N, Yeşil G, Geyik F, Kasap B, Celkan T, Kebudi R, Tüysüz B. Güneş N, et al. Ann Hum Genet. 2021 Sep;85(5):155-165. doi: 10.1111/ahg.12422. Epub 2021 Apr 20. Ann Hum Genet. 2021. PMID: 33877690

10

Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants.

Tüysüz B, Elkanova L, Uludağ Alkaya D, Güleç Ç, Toksoy G, Güneş N, Yazan H, Bayhan AI, Yıldırım T, Yeşil G, Uyguner ZO. Tüysüz B, et al. Among authors: gunes n. Bone. 2022 Feb;155:116293. doi: 10.1016/j.bone.2021.116293. Epub 2021 Dec 10. Bone. 2022. PMID: 34902613

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