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Page 1
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: berry a. 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: berry a. 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.
Development of the human pancreas from foregut to endocrine commitment.
Jennings RE, Berry AA, Kirkwood-Wilson R, Roberts NA, Hearn T, Salisbury RJ, Blaylock J, Piper Hanley K, Hanley NA. Jennings RE, et al. Among authors: berry aa. Diabetes. 2013 Oct;62(10):3514-22. doi: 10.2337/db12-1479. Epub 2013 Apr 29. Diabetes. 2013. PMID: 23630303 Free PMC article.
Human pancreas development.
Jennings RE, Berry AA, Strutt JP, Gerrard DT, Hanley NA. Jennings RE, et al. Among authors: berry aa. Development. 2015 Sep 15;142(18):3126-37. doi: 10.1242/dev.120063. Development. 2015. PMID: 26395141 Review.
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: berry aa. Islets. 2014;6(3):e954436. doi: 10.4161/19382014.2014.954436. Islets. 2014. PMID: 25322831 Free PMC article.
Altered Phenotype of β-Cells and Other Pancreatic Cell Lineages in Patients With Diffuse Congenital Hyperinsulinism in Infancy Caused by Mutations in the ATP-Sensitive K-Channel.
Salisbury RJ, Han B, Jennings RE, Berry AA, Stevens A, Mohamed Z, Sugden SA, De Krijger R, Cross SE, Johnson PP, Newbould M, Cosgrove KE, Hanley KP, Banerjee I, Dunne MJ, Hanley NA. Salisbury RJ, et al. Among authors: berry aa. Diabetes. 2015 Sep;64(9):3182-8. doi: 10.2337/db14-1202. Epub 2015 Apr 30. Diabetes. 2015. PMID: 25931474 Free PMC article.
Alternative pathway androgen biosynthesis and human fetal female virilization.
Reisch N, Taylor AE, Nogueira EF, Asby DJ, Dhir V, Berry A, Krone N, Auchus RJ, Shackleton CHL, Hanley NA, Arlt W. Reisch N, et al. Among authors: berry a. Proc Natl Acad Sci U S A. 2019 Oct 29;116(44):22294-22299. doi: 10.1073/pnas.1906623116. Epub 2019 Oct 14. Proc Natl Acad Sci U S A. 2019. PMID: 31611378 Free PMC article.
1,682 results