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Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
Khaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttälä M, Shalev S, Audollent S, d'Humières C, Kadhom N, Esculpavit C, Viot G, Boone C, Oien C, Encha-Razavi F, Batman PA, Bennett CP, Woods CG, Roume J, Lyonnet S, Génin E, Le Merrer M, Munnich A, Gubler MC, Cox P, Macdonald F, Vekemans M, Johnson CA, Attié-Bitach T; SOFFOET (Société Française de Foetopathologie). Khaddour R, et al. Among authors: macdonald f. Hum Mutat. 2007 May;28(5):523-4. doi: 10.1002/humu.9489. Hum Mutat. 2007. PMID: 17397051
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.
Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S, Saunier S, Salomon R, Gonzales M, Rattenberry E, Esculpavit C, Toutain A, Moraine C, Parent P, Marcorelles P, Dauge MC, Roume J, Le Merrer M, Meiner V, Meir K, Menez F, Beaufrère AM, Francannet C, Tantau J, Sinico M, Dumez Y, MacDonald F, Munnich A, Lyonnet S, Gubler MC, Génin E, Johnson CA, Vekemans M, Encha-Razavi F, Attié-Bitach T. Baala L, et al. Among authors: macdonald f. Am J Hum Genet. 2007 Jul;81(1):170-9. doi: 10.1086/519494. Epub 2007 Jun 4. Am J Hum Genet. 2007. PMID: 17564974 Free PMC article.
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
Handley MT, Morris-Rosendahl DJ, Brown S, Macdonald F, Hardy C, Bem D, Carpanini SM, Borck G, Martorell L, Izzi C, Faravelli F, Accorsi P, Pinelli L, Basel-Vanagaite L, Peretz G, Abdel-Salam GM, Zaki MS, Jansen A, Mowat D, Glass I, Stewart H, Mancini G, Lederer D, Roscioli T, Giuliano F, Plomp AS, Rolfs A, Graham JM, Seemanova E, Poo P, García-Cazorla A, Edery P, Jackson IJ, Maher ER, Aligianis IA. Handley MT, et al. Among authors: macdonald f. Hum Mutat. 2013 May;34(5):686-96. doi: 10.1002/humu.22296. Hum Mutat. 2013. PMID: 23420520
Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.
White DR, Ganesh A, Nishimura D, Rattenberry E, Ahmed S, Smith UM, Pasha S, Raeburn S, Trembath RC, Rajab A, Macdonald F, Banin E, Stone EM, Johnson CA, Sheffield VC, Maher ER. White DR, et al. Among authors: macdonald f. Eur J Hum Genet. 2007 Feb;15(2):173-8. doi: 10.1038/sj.ejhg.5201736. Epub 2006 Nov 15. Eur J Hum Genet. 2007. PMID: 17106446
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.
Ricketts CJ, Forman JR, Rattenberry E, Bradshaw N, Lalloo F, Izatt L, Cole TR, Armstrong R, Kumar VK, Morrison PJ, Atkinson AB, Douglas F, Ball SG, Cook J, Srirangalingam U, Killick P, Kirby G, Aylwin S, Woodward ER, Evans DG, Hodgson SV, Murday V, Chew SL, Connell JM, Blundell TL, Macdonald F, Maher ER. Ricketts CJ, et al. Among authors: macdonald f. Hum Mutat. 2010 Jan;31(1):41-51. doi: 10.1002/humu.21136. Hum Mutat. 2010. PMID: 19802898
Design and validation of a metabolic disorder resequencing microarray (BRUM1).
Bruce CK, Smith M, Rahman F, Liu ZF, McMullan DJ, Ball S, Hartley J, Kroos MA, Heptinstall L, Reuser AJ, Rolfs A, Hendriksz C, Kelly DA, Barrett TG, MacDonald F, Maher ER, Gissen P. Bruce CK, et al. Among authors: macdonald f. Hum Mutat. 2010 Jul;31(7):858-65. doi: 10.1002/humu.21261. Hum Mutat. 2010. PMID: 20578233
267 results