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129 results

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Page 1
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.
Weber S, Thiele H, Mir S, Toliat MR, Sozeri B, Reutter H, Draaken M, Ludwig M, Altmüller J, Frommolt P, Stuart HM, Ranjzad P, Hanley NA, Jennings R, Newman WG, Wilcox DT, Thiel U, Schlingmann KP, Beetz R, Hoyer PF, Konrad M, Schaefer F, Nürnberg P, Woolf AS. Weber S, et al. Among authors: hanley na. Am J Hum Genet. 2011 Nov 11;89(5):668-74. doi: 10.1016/j.ajhg.2011.10.007. Am J Hum Genet. 2011. PMID: 22077972 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: hanley na. 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.
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
Jenkinson EM, Rehman AU, Walsh T, Clayton-Smith J, Lee K, Morell RJ, Drummond MC, Khan SN, Naeem MA, Rauf B, Billington N, Schultz JM, Urquhart JE, Lee MK, Berry A, Hanley NA, Mehta S, Cilliers D, Clayton PE, Kingston H, Smith MJ, Warner TT; University of Washington Center for Mendelian Genomics; Black GC, Trump D, Davis JR, Ahmad W, Leal SM, Riazuddin S, King MC, Friedman TB, Newman WG. Jenkinson EM, et al. Among authors: hanley na. Am J Hum Genet. 2013 Apr 4;92(4):605-13. doi: 10.1016/j.ajhg.2013.02.013. Epub 2013 Mar 28. Am J Hum Genet. 2013. PMID: 23541340 Free PMC article.
The window period of NEUROGENIN3 during human gestation.
Salisbury RJ, Blaylock J, Berry AA, Jennings RE, De Krijger R, Piper Hanley K, Hanley NA. Salisbury RJ, et al. Among authors: hanley na. Islets. 2014;6(3):e954436. doi: 10.4161/19382014.2014.954436. Islets. 2014. PMID: 25322831 Free PMC article.
Human pancreas development.
Jennings RE, Berry AA, Strutt JP, Gerrard DT, Hanley NA. Jennings RE, et al. Among authors: hanley na. Development. 2015 Sep 15;142(18):3126-37. doi: 10.1242/dev.120063. Development. 2015. PMID: 26395141 Review.
Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in RFX6.
Trott J, Alpagu Y, Tan EK, Shboul M, Dawood Y, Elsy M, Wollmann H, Tano V, Bonnard C, Eng S, Narayanan G, Junnarkar S, Wearne S, Strutt J, Kumar A, Tomaz LB, Goy PA, Mzoughi S, Jennings R, Hagoort J, Eskin A, Lee H, Nelson SF, Al-Kazaleh F, El-Khateeb M, Fathallah R, Shah H, Goeke J, Langley SR, Guccione E, Hanley N, De Bakker BS, Reversade B, Dunn NR. Trott J, et al. Development. 2020 Nov 5;147(21):dev194878. doi: 10.1242/dev.194878. Development. 2020. PMID: 33033118
CDH12 as a Candidate Gene for Kidney Injury in Posterior Urethral Valve Cases: A Genome-wide Association Study Among Patients with Obstructive Uropathies.
van der Zanden LFM, van Rooij IALM, Quaedackers JSLT, Nijman RJM, Steffens M, de Wall LLL, Bongers EMHF, Schaefer F, Kirchner M, Behnisch R, Bayazit AK, Caliskan S, Obrycki L, Montini G, Duzova A, Wuttke M, Jennings R, Hanley NA, Milmoe NJ, Winyard PJD, Renkema KY, Schreuder MF, Roeleveld N, Feitz WFJ. van der Zanden LFM, et al. Among authors: hanley na. Eur Urol Open Sci. 2021 Apr 24;28:26-35. doi: 10.1016/j.euros.2021.04.001. eCollection 2021 Jun. Eur Urol Open Sci. 2021. PMID: 34337522 Free PMC article.
Primate-specific ZNF808 is essential for pancreatic development in humans.
De Franco E, Owens NDL, Montaser H, Wakeling MN, Saarimäki-Vire J, Triantou A, Ibrahim H, Balboa D, Caswell RC, Jennings RE, Kvist JA, Johnson MB, Muralidharan S, Ellard S, Wright CF, Maddirevula S, Alkuraya FS; Pancreatic Agenesis Gene Discovery Consortium; Hanley NA, Flanagan SE, Otonkoski T, Hattersley AT, Imbeault M. De Franco E, et al. Among authors: hanley na. Nat Genet. 2023 Dec;55(12):2075-2081. doi: 10.1038/s41588-023-01565-x. Epub 2023 Nov 16. Nat Genet. 2023. PMID: 37973953 Free PMC article.
129 results