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212 results

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Page 1
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes.
Gribble SM, Prigmore E, Burford DC, Porter KM, Ng BL, Douglas EJ, Fiegler H, Carr P, Kalaitzopoulos D, Clegg S, Sandstrom R, Temple IK, Youings SA, Thomas NS, Dennis NR, Jacobs PA, Crolla JA, Carter NP. Gribble SM, et al. Among authors: carter np. J Med Genet. 2005 Jan;42(1):8-16. doi: 10.1136/jmg.2004.024141. J Med Genet. 2005. PMID: 15635069 Free PMC article.
Ultra-high resolution array painting facilitates breakpoint sequencing.
Gribble SM, Kalaitzopoulos D, Burford DC, Prigmore E, Selzer RR, Ng BL, Matthews NS, Porter KM, Curley R, Lindsay SJ, Baptista J, Richmond TA, Carter NP. Gribble SM, et al. Among authors: carter np. J Med Genet. 2007 Jan;44(1):51-8. doi: 10.1136/jmg.2006.044909. Epub 2006 Sep 13. J Med Genet. 2007. PMID: 16971479 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
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.
212 results