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111 results

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A mutation screen in patients with Kabuki syndrome.
Li Y, Bögershausen N, Alanay Y, Simsek Kiper PO, Plume N, Keupp K, Pohl E, Pawlik B, Rachwalski M, Milz E, Thoenes M, Albrecht B, Prott EC, Lehmkühler M, Demuth S, Utine GE, Boduroglu K, Frankenbusch K, Borck G, Gillessen-Kaesbach G, Yigit G, Wieczorek D, Wollnik B. Li Y, et al. Among authors: borck g. Hum Genet. 2011 Dec;130(6):715-24. doi: 10.1007/s00439-011-1004-y. Epub 2011 May 24. Hum Genet. 2011. PMID: 21607748
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Borck G, Hög F, Dentici ML, Tan PL, Sowada N, Medeira A, Gueneau L, Thiele H, Kousi M, Lepri F, Wenzeck L, Blumenthal I, Radicioni A, Schwarzenberg TL, Mandriani B, Fischetto R, Morris-Rosendahl DJ, Altmüller J, Reymond A, Nürnberg P, Merla G, Dallapiccola B, Katsanis N, Cramer P, Kubisch C. Borck G, et al. Genome Res. 2015 Feb;25(2):155-66. doi: 10.1101/gr.176925.114. Epub 2015 Jan 5. Genome Res. 2015. PMID: 25561519 Free PMC article.
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Borck G, Hög F, Dentici ML, Tan PL, Sowada N, Medeira A, Gueneau L, Holger T, Kousi M, Lepri F, Wenzeck L, Blumenthal I, Radicioni A, Schwarzenberg TL, Mandriani B, Fischetto R, Morris-Rosendahl DJ, Altmüller J, Reymond A, Nünberg P, Merla G, Dallapiccola B, Katsanis N, Cramer P, Kubisch C. Borck G, et al. Genome Res. 2015 Apr;25(4):609. Genome Res. 2015. PMID: 25834187 Free PMC article. No abstract available.
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
Spielmann M, Kakar N, Tayebi N, Leettola C, Nürnberg G, Sowada N, Lupiáñez DG, Harabula I, Flöttmann R, Horn D, Chan WL, Wittler L, Yilmaz R, Altmüller J, Thiele H, van Bokhoven H, Schwartz CE, Nürnberg P, Bowie JU, Ahmad J, Kubisch C, Mundlos S, Borck G. Spielmann M, et al. Among authors: borck g. Genome Res. 2016 Feb;26(2):183-91. doi: 10.1101/gr.199430.115. Epub 2016 Jan 11. Genome Res. 2016. PMID: 26755636 Free PMC article.
Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.
Bellido F, Sowada N, Mur P, Lázaro C, Pons T, Valdés-Mas R, Pineda M, Aiza G, Iglesias S, Soto JL, Urioste M, Caldés T, Balbín M, Blay P, Rueda D, Durán M, Valencia A, Moreno V, Brunet J, Blanco I, Navarro M, Calin GA, Borck G, Puente XS, Capellá G, Valle L. Bellido F, et al. Among authors: borck g. Gastroenterology. 2018 Jan;154(1):181-194.e20. doi: 10.1053/j.gastro.2017.09.005. Epub 2017 Sep 12. Gastroenterology. 2018. PMID: 28912018
Mutations of PTPN23 in developmental and epileptic encephalopathy.
Sowada N, Hashem MO, Yilmaz R, Hamad M, Kakar N, Thiele H, Arold ST, Bode H, Alkuraya FS, Borck G. Sowada N, et al. Among authors: borck g. Hum Genet. 2017 Nov;136(11-12):1455-1461. doi: 10.1007/s00439-017-1850-3. Epub 2017 Oct 31. Hum Genet. 2017. PMID: 29090338
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C; Members of the Undiagnosed Diseases Network; Zenker M, Lee B, Biesecker LG. Johnston JJ, et al. Among authors: borck g. Genet Med. 2018 Oct;20(10):1175-1185. doi: 10.1038/gim.2017.249. Epub 2018 Feb 22. Genet Med. 2018. PMID: 29469822 Free PMC article.
111 results