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Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Hustead V, Mascotti K, Schultz R, Hallam L, McRae D, Nicholson AG, Newbury R, Durham-O'Donnell J, Knight G, Kini U, Shaikh TH, Martin V, Tyreman M, Simonic I, Willatt L, Paterson J, Mehta S, Rajan D, Fitzgerald T, Gribble S, Prigmore E, Patel A, Shaffer LG, Carter NP, Cheung SW, Langston C, Shaw-Smith C. Stankiewicz P, et al. Among authors: carter np. Am J Hum Genet. 2009 Jun;84(6):780-91. doi: 10.1016/j.ajhg.2009.05.005. Epub 2009 Jun 4. Am J Hum Genet. 2009. PMID: 19500772 Free PMC article.
Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.
Woodward KJ, Cundall M, Sperle K, Sistermans EA, Ross M, Howell G, Gribble SM, Burford DC, Carter NP, Hobson DL, Garbern JY, Kamholz J, Heng H, Hodes ME, Malcolm S, Hobson GM. Woodward KJ, et al. Among authors: carter np. Am J Hum Genet. 2005 Dec;77(6):966-87. doi: 10.1086/498048. Epub 2005 Oct 19. Am J Hum Genet. 2005. PMID: 16380909 Free PMC article.
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.
Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP. Shaw-Smith C, et al. Among authors: carter np. Nat Genet. 2006 Sep;38(9):1032-7. doi: 10.1038/ng1858. Epub 2006 Aug 13. Nat Genet. 2006. PMID: 16906163
FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.
Koumbaris G, Hatzisevastou-Loukidou H, Alexandrou A, Ioannides M, Christodoulou C, Fitzgerald T, Rajan D, Clayton S, Kitsiou-Tzeli S, Vermeesch JR, Skordis N, Antoniou P, Kurg A, Georgiou I, Carter NP, Patsalis PC. Koumbaris G, et al. Among authors: carter np. Hum Mol Genet. 2011 May 15;20(10):1925-36. doi: 10.1093/hmg/ddr074. Epub 2011 Feb 24. Hum Mol Genet. 2011. PMID: 21349920 Free PMC article.
Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.
Freitas ÉL, Gribble SM, Simioni M, Vieira TP, Silva-Grecco RL, Balarin MA, Prigmore E, Krepischi-Santos AC, Rosenberg C, Szuhai K, van Haeringen A, Carter NP, Gil-da-Silva-Lopes VL. Freitas ÉL, et al. Among authors: carter np. Am J Med Genet A. 2011 Nov;155A(11):2754-61. doi: 10.1002/ajmg.a.34168. Epub 2011 Sep 21. Am J Med Genet A. 2011. PMID: 21948691 Free PMC article.
Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.
Gestri G, Osborne RJ, Wyatt AW, Gerrelli D, Gribble S, Stewart H, Fryer A, Bunyan DJ, Prescott K, Collin JR, Fitzgerald T, Robinson D, Carter NP, Wilson SW, Ragge NK. Gestri G, et al. Among authors: carter np. Hum Genet. 2009 Dec;126(6):791-803. doi: 10.1007/s00439-009-0730-x. Hum Genet. 2009. PMID: 19685247 Free PMC article.
212 results