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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Pottie L, Adamo CS, Beyens A, Lütke S, Tapaneeyaphan P, De Clercq A, Salmon PL, De Rycke R, Gezdirici A, Gulec EY, Khan N, Urquhart JE, Newman WG, Metcalfe K, Efthymiou S, Maroofian R, Anwar N, Maqbool S, Rahman F, Altweijri I, Alsaleh M, Abdullah SM, Al-Owain M, Hashem M, Houlden H, Alkuraya FS, Sips P, Sengle G, Callewaert B. Pottie L, et al. Among authors: newman wg. Am J Hum Genet. 2021 Dec 2;108(12):2386-2388. doi: 10.1016/j.ajhg.2021.11.009. Am J Hum Genet. 2021. PMID: 34861177 Free PMC article. No abstract available.
Mutations in HPSE2 cause urofacial syndrome.
Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG. Daly SB, et al. Among authors: newman wg. Am J Hum Genet. 2010 Jun 11;86(6):963-9. doi: 10.1016/j.ajhg.2010.05.006. Am J Hum Genet. 2010. PMID: 20560210 Free PMC article.
LRIG2 mutations cause urofacial syndrome.
Stuart HM, Roberts NA, Burgu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson JE, Mermerkaya M, Silay MS, Lewis MA, Olondriz MB, Gener B, Beetz C, Varga RE, Gülpınar O, Süer E, Soygür T, Ozçakar ZB, Yalçınkaya F, Kavaz A, Bulum B, Gücük A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG. Stuart HM, et al. Among authors: newman wg. Am J Hum Genet. 2013 Feb 7;92(2):259-64. doi: 10.1016/j.ajhg.2012.12.002. Epub 2013 Jan 11. Am J Hum Genet. 2013. PMID: 23313374 Free PMC article.
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
Hussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara S, Altmüller J, Thiele H, Nürnberg G, Moosa S, Yigit G, Beleggia F, Tinschert S, Clayton-Smith J, Vasudevan P, Urquhart JE, Donnai D, Fryer A, Percin F, Brancati F, Dobbie A, Smigiel R, Gillessen-Kaesbach G, Wollnik B, Noegel AA, Newman WG, Nürnberg P. Hussain MS, et al. Among authors: newman wg. Am J Hum Genet. 2014 Nov 6;95(5):622-32. doi: 10.1016/j.ajhg.2014.10.008. Epub 2014 Nov 6. Am J Hum Genet. 2014. PMID: 25439729 Free PMC article.
Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome.
Urquhart JE, Williams SG, Bhaskar SS, Bowers N, Clayton-Smith J, Newman WG. Urquhart JE, et al. Among authors: newman wg. J Hum Genet. 2015 Dec;60(12):781-5. doi: 10.1038/jhg.2015.111. Epub 2015 Sep 17. J Hum Genet. 2015. PMID: 26377242
Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations.
Madhu R, Beaman GM, Chandler KE, O'Sullivan J, Urquhart JE, Khan N, Martindale E, Briggs TA, Clayton-Smith J, Higgs J, Batra G, Kerr B, Woolf AS, Newman WG. Madhu R, et al. Among authors: newman wg. Eur J Med Genet. 2020 Sep;63(9):103974. doi: 10.1016/j.ejmg.2020.103974. Epub 2020 Jun 12. Eur J Med Genet. 2020. PMID: 32534991 Free PMC article.
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Pottie L, Adamo CS, Beyens A, Lütke S, Tapaneeyaphan P, De Clercq A, Salmon PL, De Rycke R, Gezdirici A, Gulec EY, Khan N, Urquhart JE, Newman WG, Metcalfe K, Efthymiou S, Maroofian R, Anwar N, Maqbool S, Rahman F, Altweijri I, Alsaleh M, Abdullah SM, Al-Owain M, Hashem M, Houlden H, Alkuraya FS, Sips P, Sengle G, Callewaert B. Pottie L, et al. Among authors: newman wg. Am J Hum Genet. 2021 Jun 3;108(6):1095-1114. doi: 10.1016/j.ajhg.2021.04.016. Epub 2021 May 14. Am J Hum Genet. 2021. PMID: 33991472 Free PMC article.
324 results