Tüysüz B - Search Results

1

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.

Taylan F, Costantini A, Coles N, Pekkinen M, Héon E, Şıklar Z, Berberoğlu M, Kämpe A, Kıykım E, Grigelioniene G, Tüysüz B, Mäkitie O. Taylan F, et al. Among authors: tuysuz b. J Bone Miner Res. 2016 Aug;31(8):1577-85. doi: 10.1002/jbmr.2834. Epub 2016 Apr 4. J Bone Miner Res. 2016. PMID: 26987875 Free article.

2

Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype.

Chong B, Hegde M, Fawkner M, Simonet S, Cassinelli H, Coker M, Kanis J, Seidel J, Tau C, Tüysüz B, Yüksel B, Love D; International Hyperphosphatasia Collaborative Group. Chong B, et al. Among authors: tuysuz b. J Bone Miner Res. 2003 Dec;18(12):2095-104. doi: 10.1359/jbmr.2003.18.12.2095. J Bone Miner Res. 2003. PMID: 14672344 Free article.

3

Osteoporosis-pseudoglioma syndrome: three novel mutations in the LRP5 gene and response to bisphosphonate treatment.

Tüysüz B, Bursalı A, Alp Z, Suyugül N, Laine CM, Mäkitie O. Tüysüz B, et al. Horm Res Paediatr. 2012;77(2):115-20. doi: 10.1159/000336193. Epub 2012 Mar 23. Horm Res Paediatr. 2012. PMID: 22456437

4

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: tuysuz b. 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

5

Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome.

Dağdeviren Çakır A, Baş F, Akın O, Şıklar Z, Özcabı B, Berberoğlu M, Kardelen AD, Bayramoğlu E, Poyrazoğlu Ş, Aydın M, Törel Ergür A, Gökşen D, Bolu S, Aycan Z, Tüysüz B, Ercan O, Evliyaoğlu O. Dağdeviren Çakır A, et al. Among authors: tuysuz b. J Clin Res Pediatr Endocrinol. 2021 Aug 23;13(3):308-319. doi: 10.4274/jcrpe.galenos.2021.2020.0228. Epub 2021 Feb 10. J Clin Res Pediatr Endocrinol. 2021. PMID: 33565750 Free PMC article.

6

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. Bone. 2022 Feb;155:116293. doi: 10.1016/j.bone.2021.116293. Epub 2021 Dec 10. Bone. 2022. PMID: 34902613

7

The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120.

Tüysüz B, Usluer E, Uludağ Alkaya D, Ocak S, Saygılı S, Şeker A, Apak H. Tüysüz B, et al. Bone. 2023 Dec;177:116897. doi: 10.1016/j.bone.2023.116897. Epub 2023 Sep 11. Bone. 2023. PMID: 37704070

8

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

9

Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3.

Tuysuz B, Mizumoto S, Sugahara K, Celebi A, Mundlos S, Turkmen S. Tuysuz B, et al. Clin Genet. 2009 Apr;75(4):375-83. doi: 10.1111/j.1399-0004.2009.01167.x. Clin Genet. 2009. PMID: 19320654

10

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

Yildirim Y, Tolun A, Tüysüz B. Yildirim Y, et al. Among authors: tuysuz b. Am J Med Genet A. 2011 Jan;155A(1):134-40. doi: 10.1002/ajmg.a.33747. Epub 2010 Dec 9. Am J Med Genet A. 2011. PMID: 21204221

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

179 results

Search Page

Filters