Tuysuz B - Search Results

1

Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes.

Tuysuz B, Uludag Alkaya D, Geyik F, Alaylıoğlu M, Kasap B, Kurugoğlu S, Akman YE, Vural M, Bilguvar K. Tuysuz B, et al. J Med Genet. 2023 Aug;60(8):819-826. doi: 10.1136/jmg-2022-108763. Epub 2022 Dec 21. J Med Genet. 2023. PMID: 36543534

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

Prenatal diagnosis of arthrogryposis multiplex congenita with increased nuchal translucency but without any underlying fetal neurogenic or myogenic pathology.

Madazli R, Tüysüz B, Aksoy F, Barbaros M, Uludağ S, Ocak V. Madazli R, et al. Among authors: tuysuz b. Fetal Diagn Ther. 2002 Jan-Feb;17(1):29-33. doi: 10.1159/000048002. Fetal Diagn Ther. 2002. PMID: 11803213

4

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.

Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tüysüz B, Landrieu P, Hentati F, Koenig M. Bomont P, et al. Among authors: tuysuz b. Nat Genet. 2000 Nov;26(3):370-4. doi: 10.1038/81701. Nat Genet. 2000. PMID: 11062483

5

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.

Hucthagowder V, Morava E, Kornak U, Lefeber DJ, Fischer B, Dimopoulou A, Aldinger A, Choi J, Davis EC, Abuelo DN, Adamowicz M, Al-Aama J, Basel-Vanagaite L, Fernandez B, Greally MT, Gillessen-Kaesbach G, Kayserili H, Lemyre E, Tekin M, Türkmen S, Tuysuz B, Yüksel-Konuk B, Mundlos S, Van Maldergem L, Wevers RA, Urban Z. Hucthagowder V, et al. Among authors: tuysuz b. Hum Mol Genet. 2009 Jun 15;18(12):2149-65. doi: 10.1093/hmg/ddp148. Epub 2009 Mar 25. Hum Mol Genet. 2009. PMID: 19321599 Free PMC article.

6

Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method.

Semerci CN, Satiroglu-Tufan NL, Turan S, Bereket A, Tuysuz B, Yilmaz E, Kayserili H, Karaman B, Semiz S, Duzcan F, Bagci H. Semerci CN, et al. Among authors: tuysuz b. Tohoku J Exp Med. 2007 Mar;211(3):243-9. doi: 10.1620/tjem.211.243. Tohoku J Exp Med. 2007. PMID: 17347549 Free article.

7

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.

8

Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia.

Sass JO, Gunduz A, Araujo Rodrigues Funayama C, Korkmaz B, Dantas Pinto KG, Tuysuz B, Yanasse Dos Santos L, Taskiran E, de Fátima Turcato M, Lam CW, Reiss J, Walter M, Yalcinkaya C, Camelo Junior JS. Sass JO, et al. Among authors: tuysuz b. Brain Dev. 2010 Aug;32(7):544-9. doi: 10.1016/j.braindev.2009.09.005. Epub 2009 Sep 29. Brain Dev. 2010. PMID: 19793632

9

Linear scleroderma en coup de sabre and brain calcification: is there a pathogenic relationship?

Kasapçopur O, Ozkan HC, Tüysüz B. Kasapçopur O, et al. Among authors: tuysuz b. J Rheumatol. 2003 Dec;30(12):2724-5; author reply 2725. J Rheumatol. 2003. PMID: 14719224 No abstract available.

10

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

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