Uludağ Alkaya D - Search Results

1

Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants.

Yüksel Ülker A, Uludağ Alkaya D, Elkanova L, Şeker A, Akpınar E, Akarsu NA, Uyguner ZO, Tüysüz B. Yüksel Ülker A, et al. Among authors: uludag alkaya d. Calcif Tissue Int. 2021 Dec;109(6):633-644. doi: 10.1007/s00223-021-00879-4. Epub 2021 Jun 25. Calcif Tissue Int. 2021. PMID: 34173012

2

Long-term follow-up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variant.

Uludağ Alkaya D, Uyguner ZO, Güneş N, Tüysüz B. Uludağ Alkaya D, et al. Am J Med Genet A. 2022 May;188(5):1639-1646. doi: 10.1002/ajmg.a.62664. Epub 2022 Jan 29. Am J Med Genet A. 2022. PMID: 35092157

3

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

4

Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl.

Uludağ Alkaya D, Akpınar E, Bilguvar K, Tüysüz B. Uludağ Alkaya D, et al. Am J Med Genet A. 2021 Jul;185(7):2271-2277. doi: 10.1002/ajmg.a.62198. Epub 2021 Apr 10. Am J Med Genet A. 2021. PMID: 33837634

5

Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.

Berkay EG, Elkanova L, Kalaycı T, Uludağ Alkaya D, Altunoğlu U, Cefle K, Mıhçı E, Nur B, Taşdelen E, Bayramoğlu Z, Karaman V, Toksoy G, Güneş N, Öztürk Ş, Palandüz Ş, Kayserili H, Tüysüz B, Uyguner ZO. Berkay EG, et al. Among authors: uludag alkaya d. Am J Med Genet A. 2021 Aug;185(8):2488-2495. doi: 10.1002/ajmg.a.62261. Epub 2021 May 13. Am J Med Genet A. 2021. PMID: 33987976

6

Specific early signs and long-term follow-up findings of progressive pseudorheumatoid dysplasia (PPRD) in the Turkish cohort.

Uludağ Alkaya D, Kasapçopur Ö, Bursalı A, Adrovic A, Demir B, Aykut A, Tüysüz B. Uludağ Alkaya D, et al. Rheumatology (Oxford). 2022 Aug 30;61(9):3693-3703. doi: 10.1093/rheumatology/keab926. Rheumatology (Oxford). 2022. PMID: 34919662

7

Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.

Uludağ Alkaya D, Lissewski C, Yeşil G, Zenker M, Tüysüz B. Uludağ Alkaya D, et al. Am J Med Genet A. 2021 Dec;185(12):3623-3633. doi: 10.1002/ajmg.a.62410. Epub 2021 Jun 29. Am J Med Genet A. 2021. PMID: 34184824

8

Two novel variants and follow-up findings in four children with Bloom syndrome from two families.

Kasap B, Guclu-Geyik F, Uludag Alkaya D, Cetin G, Tuysuz B. Kasap B, et al. Among authors: uludag alkaya d. Clin Dysmorphol. 2022 Jan 1;31(1):31-35. doi: 10.1097/MCD.0000000000000391. Clin Dysmorphol. 2022. PMID: 34538859 No abstract available.

9

Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.

Tüysüz B, Alp Ünkar Z, Turan H, Gezdirici A, Uludağ Alkaya D, Kasap B, Yeşil G, Vural M, Ercan O. Tüysüz B, et al. Among authors: uludag alkaya d. Eur J Med Genet. 2021 Dec;64(12):104346. doi: 10.1016/j.ejmg.2021.104346. Epub 2021 Sep 28. Eur J Med Genet. 2021. PMID: 34597859

10

Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

Yilmaz S, Uludağ Alkaya D, Kasapçopur Ö, Barut K, Akdemir ES, Celen C, Youngblood MW, Yasuno K, Bilguvar K, Günel M, Tüysüz B. Yilmaz S, et al. Among authors: uludag alkaya d. Mol Genet Genomic Med. 2018 Mar;6(2):230-248. doi: 10.1002/mgg3.364. Epub 2018 Feb 4. Mol Genet Genomic Med. 2018. PMID: 29397575 Free PMC article.

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