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Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features.
Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP. Shaw-Smith C, et al. Among authors: bobrow m. J Med Genet. 2004 Apr;41(4):241-8. doi: 10.1136/jmg.2003.017731. J Med Genet. 2004. PMID: 15060094 Free PMC article.
Prenatal diagnosis by array-CGH.
Rickman L, Fiegler H, Carter NP, Bobrow M. Rickman L, et al. Among authors: bobrow m. Eur J Med Genet. 2005 Jul-Sep;48(3):232-40. doi: 10.1016/j.ejmg.2005.03.003. Eur J Med Genet. 2005. PMID: 16179219 Review.
Prenatal detection of unbalanced chromosomal rearrangements by array CGH.
Rickman L, Fiegler H, Shaw-Smith C, Nash R, Cirigliano V, Voglino G, Ng BL, Scott C, Whittaker J, Adinolfi M, Carter NP, Bobrow M. Rickman L, et al. Among authors: bobrow m. J Med Genet. 2006 Apr;43(4):353-61. doi: 10.1136/jmg.2005.037648. Epub 2005 Sep 30. J Med Genet. 2006. PMID: 16199537 Free PMC article.
Characterization of DRP2, a novel human dystrophin homologue.
Roberts RG, Freeman TC, Kendall E, Vetrie DL, Dixon AK, Shaw-Smith C, Bone Q, Bobrow M. Roberts RG, et al. Among authors: bobrow m. Nat Genet. 1996 Jun;13(2):223-6. doi: 10.1038/ng0696-223. Nat Genet. 1996. PMID: 8640231
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
Deletions in the 5' region of dystrophin and resulting phenotypes.
Muntoni F, Gobbi P, Sewry C, Sherratt T, Taylor J, Sandhu SK, Abbs S, Roberts R, Hodgson SV, Bobrow M, et al. Muntoni F, et al. Among authors: bobrow m. J Med Genet. 1994 Nov;31(11):843-7. doi: 10.1136/jmg.31.11.843. J Med Genet. 1994. PMID: 7853367 Free PMC article.
337 results