Kayserili H - Search Results

1

A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.

Bonnard C, Navaratnam N, Ghosh K, Chan PW, Tan TT, Pomp O, Ng AYJ, Tohari S, Changede R, Carling D, Venkatesh B, Altunoglu U, Kayserili H, Reversade B. Bonnard C, et al. Among authors: kayserili h. J Exp Med. 2020 Dec 7;217(12):e20191561. doi: 10.1084/jem.20191561. J Exp Med. 2020. PMID: 32845958 Free PMC article.

2

Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations.

Kayserili H, Altunoglu U, Ozgur H, Basaran S, Uyguner ZO. Kayserili H, et al. Am J Med Genet A. 2012 Jan;158A(1):236-44. doi: 10.1002/ajmg.a.34390. Epub 2011 Dec 2. Am J Med Genet A. 2012. PMID: 22140057

3

Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.

Bonnard C, Strobl AC, Shboul M, Lee H, Merriman B, Nelson SF, Ababneh OH, Uz E, Güran T, Kayserili H, Hamamy H, Reversade B. Bonnard C, et al. Among authors: kayserili h. Nat Genet. 2012 May 13;44(6):709-13. doi: 10.1038/ng.2259. Nat Genet. 2012. PMID: 22581230

4

Mutations in WNT1 cause different forms of bone fragility.

Keupp K, Beleggia F, Kayserili H, Barnes AM, Steiner M, Semler O, Fischer B, Yigit G, Janda CY, Becker J, Breer S, Altunoglu U, Grünhagen J, Krawitz P, Hecht J, Schinke T, Makareeva E, Lausch E, Cankaya T, Caparrós-Martín JA, Lapunzina P, Temtamy S, Aglan M, Zabel B, Eysel P, Koerber F, Leikin S, Garcia KC, Netzer C, Schönau E, Ruiz-Perez VL, Mundlos S, Amling M, Kornak U, Marini J, Wollnik B. Keupp K, et al. Among authors: kayserili h. Am J Hum Genet. 2013 Apr 4;92(4):565-74. doi: 10.1016/j.ajhg.2013.02.010. Epub 2013 Mar 14. Am J Hum Genet. 2013. PMID: 23499309 Free PMC article.

5

Multiple synostoses syndrome in three members of a family displaying a novel mutation in NOGGIN gene.

Aydin HU, Altunoglu U, Uyguner ZO, Ozkan T, Kayserili H. Aydin HU, et al. Among authors: kayserili h. J Plast Reconstr Aesthet Surg. 2013 Oct;66(10):e287-9. doi: 10.1016/j.bjps.2013.05.011. Epub 2013 Jun 1. J Plast Reconstr Aesthet Surg. 2013. PMID: 23732071 No abstract available.

6

Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum.

Schanze D, Kayserili H, Satkın BN, Altunoglu U, Zenker M. Schanze D, et al. Among authors: kayserili h. Am J Med Genet A. 2014 Mar;164A(3):837-40. doi: 10.1002/ajmg.a.36343. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357607 No abstract available.

7

Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2.

Aslanger AD, Altunoglu U, Aslanger E, Satkın BN, Uyguner ZO, Kayserili H. Aslanger AD, et al. Among authors: kayserili h. Am J Med Genet A. 2014 Feb;164A(2):484-9. doi: 10.1002/ajmg.a.36277. Epub 2013 Oct 29. Am J Med Genet A. 2014. PMID: 24449201 Review.

8

Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation.

Guven Y, Altunoglu U, Aktoren O, Uyguner ZO, Kayserili H, Kaewkahya M, Kantaputra PN. Guven Y, et al. Among authors: kayserili h. Eur J Med Genet. 2014 Apr;57(5):240-6. doi: 10.1016/j.ejmg.2014.02.014. Epub 2014 Mar 12. Eur J Med Genet. 2014. PMID: 24631696

9

Mild nasal clefting may be predictive for ALX4 heterozygotes.

Altunoglu U, Satkın B, Uyguner ZO, Kayserili H. Altunoglu U, et al. Among authors: kayserili h. Am J Med Genet A. 2014 Aug;164A(8):2054-8. doi: 10.1002/ajmg.a.36578. Epub 2014 Apr 24. Am J Med Genet A. 2014. PMID: 24764194

10

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.

Schaffer AE, Eggens VR, Caglayan AO, Reuter MS, Scott E, Coufal NG, Silhavy JL, Xue Y, Kayserili H, Yasuno K, Rosti RO, Abdellateef M, Caglar C, Kasher PR, Cazemier JL, Weterman MA, Cantagrel V, Cai N, Zweier C, Altunoglu U, Satkin NB, Aktar F, Tuysuz B, Yalcinkaya C, Caksen H, Bilguvar K, Fu XD, Trotta CR, Gabriel S, Reis A, Gunel M, Baas F, Gleeson JG. Schaffer AE, et al. Among authors: kayserili h. Cell. 2014 Apr 24;157(3):651-63. doi: 10.1016/j.cell.2014.03.049. Cell. 2014. PMID: 24766810 Free PMC article.

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