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26 results

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Page 1
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
Alanay Y, Ergüner B, Utine E, Haçariz O, Kiper PO, Taşkıran EZ, Perçin F, Uz E, Sağiroğlu MŞ, Yuksel B, Boduroglu K, Akarsu NA. Alanay Y, et al. Among authors: kiper po. Am J Med Genet A. 2014 Feb;164A(2):291-304. doi: 10.1002/ajmg.a.36248. Epub 2013 Nov 5. Am J Med Genet A. 2014. PMID: 24194475 Review.
HERC1 mutations in idiopathic intellectual disability.
Utine GE, Taşkıran EZ, Koşukcu C, Karaosmanoğlu B, Güleray N, Doğan ÖA, Kiper PÖ, Boduroğlu K, Alikaşifoğlu M. Utine GE, et al. Among authors: kiper po. Eur J Med Genet. 2017 May;60(5):279-283. doi: 10.1016/j.ejmg.2017.03.007. Epub 2017 Mar 18. Eur J Med Genet. 2017. PMID: 28323226
IMPAD1 mutations in two Catel-Manzke like patients.
Nizon M, Alanay Y, Tuysuz B, Kiper PO, Geneviève D, Sillence D, Huber C, Munnich A, Cormier-Daire V. Nizon M, et al. Among authors: kiper po. Am J Med Genet A. 2012 Sep;158A(9):2183-7. doi: 10.1002/ajmg.a.35504. Epub 2012 Aug 6. Am J Med Genet A. 2012. PMID: 22887726
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
Bramswig NC, Lüdecke HJ, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, Braunholz D, Caliebe A, Chrzanowska KH, Czeschik JC, Endele S, Graf E, Guillén-Navarro E, Kiper PÖ, López-González V, Parenti I, Pozojevic J, Utine GE, Wieland T, Kaiser FJ, Wollnik B, Strom TM, Wieczorek D. Bramswig NC, et al. Among authors: kiper po. Hum Genet. 2015 Jun;134(6):553-68. doi: 10.1007/s00439-015-1535-8. Epub 2015 Feb 28. Hum Genet. 2015. PMID: 25724810 Clinical Trial.
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PÖ, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Mégarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V. Le Goff C, et al. Among authors: kiper po. Am J Hum Genet. 2011 Jul 15;89(1):7-14. doi: 10.1016/j.ajhg.2011.05.012. Epub 2011 Jun 16. Am J Hum Genet. 2011. PMID: 21683322 Free PMC article.
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
Bögershausen N, Tsai IC, Pohl E, Kiper PÖ, Beleggia F, Percin EF, Keupp K, Matchan A, Milz E, Alanay Y, Kayserili H, Liu Y, Banka S, Kranz A, Zenker M, Wieczorek D, Elcioglu N, Prontera P, Lyonnet S, Meitinger T, Stewart AF, Donnai D, Strom TM, Boduroglu K, Yigit G, Li Y, Katsanis N, Wollnik B. Bögershausen N, et al. Among authors: kiper po. J Clin Invest. 2015 Sep;125(9):3585-99. doi: 10.1172/JCI80102. Epub 2015 Aug 17. J Clin Invest. 2015. PMID: 26280580 Free PMC article.
26 results