Tüysüz B - Search Results

1

Branchio-oculo-facial syndrome in a newborn caused by a novel TFAP2A mutation.

Günes N, Cengiz FB, Duman D, Dervişoğlu S, Tekin M, Tüysüz B. Günes N, et al. Among authors: tuysuz b. Genet Couns. 2014;25(1):41-7. Genet Couns. 2014. PMID: 24783654

2

[Hennekam syndrome].

Erkan T, Kutlu T, Cullu F, Celik M, Demir T, Tüysüz B, Tümay GT. Erkan T, et al. Among authors: tuysuz b. Arch Pediatr. 1998 Dec;5(12):1344-6. doi: 10.1016/s0929-693x(99)80054-2. Arch Pediatr. 1998. PMID: 9885742 French.

3

An eleven-year-old female Turkish patient with progressive pseudorheumatoid dysplasia mimicking juvenile idiopathic arthritis.

Balci S, Aypar E, Kasapçopur O, Tüysüz B, Arisoy N. Balci S, et al. Among authors: tuysuz b. Clin Exp Rheumatol. 2001 Nov-Dec;19(6):759. Clin Exp Rheumatol. 2001. PMID: 11791657 No abstract available.

4

An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.

Yüksel Ülker A, Uludağ Alkaya D, Çağlayan AO, Usluer E, Aykut A, Aslanger A, Vural M, Tüysüz B. Yüksel Ülker A, et al. Among authors: tuysuz b. Am J Med Genet A. 2023 Jun;191(6):1530-1545. doi: 10.1002/ajmg.a.63180. Epub 2023 Mar 15. Am J Med Genet A. 2023. PMID: 36919607

5

Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2.

Mollaoğlu E, Uludağ Alkaya D, Yıldız CA, Kasap B, Tüysüz B. Mollaoğlu E, et al. Among authors: tuysuz b. Clin Genet. 2023 May;103(5):574-579. doi: 10.1111/cge.14277. Epub 2022 Dec 20. Clin Genet. 2023. PMID: 36504352

6

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.

Bakey Z, Cabrera OA, Hoefele J, Antony D, Wu K, Stuck MW, Micha D, Eguether T, Smith AO, van der Wel NN, Wagner M, Strittmatter L, Beales PL, Jonassen JA, Thiffault I, Cadieux-Dion M, Boyes L, Sharif S, Tüysüz B, Dunstheimer D, Niessen HWM, Devine W, Lo CW, Mitchison HM, Schmidts M, Pazour GJ. Bakey Z, et al. Among authors: tuysuz b. PLoS Genet. 2023 Jun 14;19(6):e1010796. doi: 10.1371/journal.pgen.1010796. eCollection 2023 Jun. PLoS Genet. 2023. PMID: 37315079 Free PMC article.

7

Thyroid dysfunction in children with Down's syndrome.

Tüysüz B, Beker DB. Tüysüz B, et al. Acta Paediatr. 2001 Dec;90(12):1389-93. doi: 10.1080/08035250152708770. Acta Paediatr. 2001. PMID: 11853334

8

Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene.

Jakubiczka S, Bettecken T, Koch G, Tüysüz B, Wollnik B, Wieacker P. Jakubiczka S, et al. Among authors: tuysuz b. Clin Dysmorphol. 2001 Jul;10(3):197-201. doi: 10.1097/00019605-200107000-00009. Clin Dysmorphol. 2001. PMID: 11446414

9

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.

10

HLA-DQ alleles in patients with celiac disease in Turkey.

Tüysüz B, Dursun A, Kutlu T, Sökücü S, Cine N, Süoğlu O, Erkan T, Erginel-Unaltuna N, Tümay G. Tüysüz B, et al. Tissue Antigens. 2001 Jun;57(6):540-2. doi: 10.1034/j.1399-0039.2001.057006540.x. Tissue Antigens. 2001. PMID: 11556984

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