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2010 Journal Article Mutations in the nuclear localization sequence of the Aristaless related homeobox; Sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell divisionShoubridge, Cheryl, Tan, May, Fullston, Tod, Cloosterman, Desiree, Coman, David, McGillivray, George, Mancini, Grazia, Kleefstra, Tjitske and Gécz, Jozef (2010). Mutations in the nuclear localization sequence of the Aristaless related homeobox; Sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division. PathoGenetics, 3 (1) 1. doi: 10.1186/1755-8417-3-1 |
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2010 Journal Article Trisomy 16 mosaicism at chorionic villus sampling and amniocentesis with a normal physical and intellectual outcomeComan, D., Gardner, R. J., Pertile, M. D. and Kannu, P. (2010). Trisomy 16 mosaicism at chorionic villus sampling and amniocentesis with a normal physical and intellectual outcome. Fetal diagnosis and therapy, 28 (2), 117-118. doi: 10.1159/000316404 |
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2009 Journal Article Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: Five new mutations in the DNA-binding domain of the TP63 gene and genotype–phenotype correlationClements, S. E., Techanukul, T., Coman, D., Mellerio, J. E. and McGrath, J.A. (2009). Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: Five new mutations in the DNA-binding domain of the TP63 gene and genotype–phenotype correlation. British Journal of Dermatology, 162 (1), 201-207. doi: 10.1111/j.1365-2133.2009.09496.x |
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2009 Journal Article Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practiceBruno, D. L., Ganesamoorthy, D., Schoumans, J., Bankier, A., Coman, D., Delatycki, M., Gardner, R. J. M., Hunter, M., James, P. A., Kannu, P., McGillivray, G., Pachter, N., Peters, H., Rieubland, C., Savarirayan, R., Scheffer, I. E., Sheffield, L., Tan, T., White, S. M., Yeung, A., Bowman, Z., Ngo, C., Choy, K. W., Cacheux, V., Wong, L., Amor, D. J. and Slater, H. R. (2009). Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice. Journal of Medical Genetics, 46 (2), 123-131. doi: 10.1136/jmg.2008.062604 |
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2009 Journal Article Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1aMalhotra, A., Pateman, A., Chalmers, R., Coman, D. and Menahem, S. (2009). Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1a. Fetal Diagnosis and Therapy: clinical advances and basic research, 25 (1), 54-57. doi: 10.1159/000196816 |
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2008 Journal Article Unrelated cord blood transplantation in a girl with Hoyeraal–Hreidarsson syndromeComan, D., Herbert, A. R., McGill, J., Lockwood, L. and Hallahan, A. R. (2008). Unrelated cord blood transplantation in a girl with Hoyeraal–Hreidarsson syndrome. Bone Marrow Transplantation, 42 (4), 293-294. doi: 10.1038/bmt.2008.163 |
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2008 Journal Article Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9pComan, David, Bacic, Sonya, Boys, Amber, Sparrow, Duncan B., Dunwoodie, Sally L., Savarirayan, Ravi and Amor, David J. (2008). Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p. American Journal of Medical Genetics, Part A, 146 (15), 1972-1976. doi: 10.1002/ajmg.a.32299 |
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2008 Journal Article New indications and controversies in arginine therapyComan, David, Yaplito-Lee, Joy and Boneh, Avihu (2008). New indications and controversies in arginine therapy. Clinical Nutrition, 27 (4), 489-496. doi: 10.1016/j.clnu.2008.05.007 |
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2008 Journal Article The skeletal manifestations of the congenital disorders of glycosylationComan, D., Irving, M., Kannu, P., Jaeken, J. and Savarirayan, Ravi (2008). The skeletal manifestations of the congenital disorders of glycosylation. Clinical Genetics, 73 (6), 507-515. doi: 10.1111/j.1399-0004.2008.01015.x |
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2008 Journal Article Enzyme Replacement Therapy for Mucopolysaccharidoses: Opinions of Patients and FamiliesComan, David J., Hayes, Ian M., Collins, Veronica, Sahhar, Margaret, Wraith, J. Ed and Delatycki, Martin B. (2008). Enzyme Replacement Therapy for Mucopolysaccharidoses: Opinions of Patients and Families. Journal of Pediatrics, 152 (5), 723-727. doi: 10.1016/j.jpeds.2007.10.015 |
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2008 Journal Article A novel splice site mutation in EYA4 causes DFNA10 hearing loss (American Journal of Medical Genetics 143,14, (1599-1604))Hildebrand, Michael S., Coman, D., Yang, T., Gardner, R. J., Rose, E., Smith, R. J., Bahlo, M. and Dahl, H. H. (2008). A novel splice site mutation in EYA4 causes DFNA10 hearing loss (American Journal of Medical Genetics 143,14, (1599-1604)). American Journal of Medical Genetics, Part A, 146 (8), 1099-1099. doi: 10.1002/ajmg.a.32134 |
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2008 Journal Article Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia [4]Coman, D., Bostock, D., Hunter, M., Kannu, P., Irving, M., Mayne, V., Fietz, M., Jaeken, J. and Savarirayan, R. (2008). Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia [4]. American Journal of Medical Genetics, Part A, 146 (3), 389-392. doi: 10.1002/ajmg.a.32119 |
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2008 Journal Article Diagnostic dilemma's: The congenital disorders of glycosylation are clinical chameleonsComan, David J. (2008). Diagnostic dilemma's: The congenital disorders of glycosylation are clinical chameleons. European Journal of Human Genetics, 16 (1), 2-4. doi: 10.1038/sj.ejhg.5201962 |
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2008 Journal Article Dysmorphism and the inborn errors of metabolism: The importance of the paediatricianComan, D., McGill, J. and Savarirayan, Ravi (2008). Dysmorphism and the inborn errors of metabolism: The importance of the paediatrician. Perinatology, 10 (1-2), 1-22. |
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2007 Journal Article Deletions revealing recessive genes: Deletions that reveal recessive genesComan, David J. and Gardner, R.J. McKinlay (2007). Deletions revealing recessive genes: Deletions that reveal recessive genes. European Journal of Human Genetics, 15 (11), 1103-1104. doi: 10.1038/sj.ejhg.5201919 |
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2007 Journal Article Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: A new syndrome?Coman, David J., White, Susan M. and Amor, David J. (2007). Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: A new syndrome?. American Journal of Medical Genetics, Part A, 143 (18), 2085-2088. doi: 10.1002/ajmg.a.31894 |
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2007 Journal Article A novel splice site mutation in EYA4 causes DFNA10 hearing lossHildebrand, Michael S., Coman, David, Yang, Tao, Gardner, R.J. McKinlay, Rose, Elizabeth, Smith, Richard J.H., Bahlo, Melanie and Dahl, Hans-Henrik M. (2007). A novel splice site mutation in EYA4 causes DFNA10 hearing loss. American Journal of Medical Genetics, Part A, 143 (14), 1599-1604. doi: 10.1002/ajmg.a.31860 |
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2007 Journal Article Congenital disorder of glycosylation type 1a: Three siblings with a mild neurological phenotypeComan, D., McGill, J., MacDonald, R., Morris, D., Klingberg, S., Jaeken, J. and Appleton, D. (2007). Congenital disorder of glycosylation type 1a: Three siblings with a mild neurological phenotype. Journal of Clinical Neuroscience, 14 (7), 668-672. doi: 10.1016/j.jocn.2006.04.008 |
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2006 Journal Article Carbamyl phosphate synthase deficiency: Diagnosed during pregnancy in a 41-year-oldEather, G., Coman, D., Lander, C. and McGill, J. (2006). Carbamyl phosphate synthase deficiency: Diagnosed during pregnancy in a 41-year-old. Journal of Clinical Neuroscience, 13 (6), 702-706. doi: 10.1016/j.jocn.2005.07.014 |
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2006 Journal Article Seizures, ataxia, developmental delay and the general paediatrician: Glucose transporter 1 deficiency syndromeComan, David J., Sinclair, K. G., Burke, C. J., Appleton, D. B., Pelekanos, J. T., ONeil, C. M., Wallace, G. B., Bowling, F. G., Wang, D., De Vivo, D. C. and McGill, J. J. (2006). Seizures, ataxia, developmental delay and the general paediatrician: Glucose transporter 1 deficiency syndrome. Journal of Paediatrics and Child Health, 42 (5), 263-267. doi: 10.1111/j.1440-1754.2006.00852.x |
