Search Results - "McGaughran, J."

The future of clinical genetics by McGaughran, J.

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Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype by Kleefstra, T, van Zelst-Stams, W A, Nillesen, W M, Cormier-Daire, V, Houge, G, Foulds, N, van Dooren, M, Willemsen, M H, Pfundt, R, Turner, A, Wilson, M, McGaughran, J, Rauch, A, Zenker, M, Adam, M P, Innes, M, Davies, C, López, A González-Meneses, Casalone, R, Weber, A, Brueton, L A, Navarro, A Delicado, Bralo, M Palomares, Venselaar, H, Stegmann, S P A, Yntema, H G, van Bokhoven, H, Brunner, H G

“…The 9q subtelomeric deletion syndrome (9qSTDS) is clinically characterised by moderate to severe mental retardation, childhood hypotonia and facial…”
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Rarity and phenotypic heterogeneity provide challenges in the diagnosis of Andersen–Tawil syndrome: Two cases presenting with ECGs mimicking catecholaminergic polymorphic ventricular tachycardia (CPVT) by Tully, I, Atherton, J, Hunt, L, Ingles, J, Semsarian, C, McGaughran, J

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CCDC22: a novel candidate gene for syndromic X-linked intellectual disability by Voineagu, I, Huang, L, Winden, K, Lazaro, M, Haan, E, Nelson, J, McGaughran, J, Nguyen, L S, Friend, K, Hackett, A, Field, M, Gecz, J, Geschwind, D

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A clinical study of type 1 neurofibromatosis in north west England by McGaughran, J M, Harris, D I, Donnai, D, Teare, D, MacLeod, R, Westerbeek, R, Kingston, H, Super, M, Harris, R, Evans, D G R

“…A clinical study of patients on the North West Regional Genetic Register with neurofibromatosis type 1 (NF1) identified 523 affected cases from 304 families…”
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Long QT Syndrome Associated With a Mutation in the β3 Subunit of the Cardiac Sodium Channel (SCN3B) Gene in Two Siblings by Lau, K, Martin, P, Chia, K, McGaughran, J, Atherton, J

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Mutations in PAX1 may be associated with Klippel-Feil syndrome by MCGAUGHRAN, J. M, OATES, A, DONNAI, D, READ, A. P, TASSABEHJI, M

“…Pax genes are a highly conserved family of developmental control genes that encode transcription factors. In vertebrates, Pax genes play a role in pattern…”
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Queensland Cardiac Genetics Clinic by Hunt, L, Atherton, J, McGaughran, J

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Dilated cardiomyopathy - three brothers and a BAG3 mutation by Hunt, L, Atherton, J, McGaughran, J

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350 A retrospective study of cancer in Australian and New Zealand cystic fibrosis (CF) patients by McGaughran, J, Bell, S.C, Wilson, J

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Genetic testing for monogenic cardiac disorders in minors: Review of all minors referred to a cardiac genetics service over a 5 year period by Wallis, M, Hunt, L, Atherton, J, Stathis, S, McGaughran, J

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Initial Findings and Reflections of the Australian Genomics Cardiovascular Disorders Flagship by McGaughran, J., Semsarian, C.

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Synpolydactyly Phenotypes Correlate with Size of Expansions in HOXD13 Polyalanine Tract by Goodman, F. R., Mundlos, S., Muragaki, Y., Donnai, D., Giovannucci-Uzielli, M. L., Lapi, E., Majewski, F., McGaughran, J., McKeown, C., Reardon, W., Upton, J., Winter, R. M., Olsen, B. R., Scambler, P. J.

“…Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation. Typical cases have 3/4 finger and 4/5 toe syndactyly, with a duplicated digit in…”
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Utility of Genetic Testing in Hypertrophic Cardiomyopathy in a Statewide Service by McCormack, L, Hunt, L, McGaughran, J, Atherton, J

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Confounder bias in sudden death risk stratification for hypertrophic cardiomyopathy by Ingles, J, Medi, C, Burns, C, McCormack, L, Yeates, L, Hunt, L, McGaughran, J, McGeechan, K, Atherton, J, Driscoll, T, Semsarian, C

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Incremental Utility of Cardiac Magnetic Resonance Imaging in Assessing Adult Hypertrophic Cardiomyopathy Mutation Carriers by McCormack, L, Younger, J, Lo, A, Hunt, L, McGaughran, J, Atherton, J

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A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype by Engels, S, Kohlhase, J, McGaughran, J

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Audiological abnormalities in the Klippel-Feil syndrome by McGaughran, J M, Kuna, P, Das, V

“…Klippel-Feil syndrome (KFS) is defined as a short neck with decreased movement and low posterior hairline. Radiologically, there is a failure of cervical…”
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Mutations in CDMP1 cause autosomal dominant brachydactyly type C by Polinkovsky, Alexander, Robin, Nathaniel H, Thomas, J. Terrig, Irons, Mira, Lynn, Audrey, Goodman, Frances R, Reardon, William, Kant, Sarina G, Brunner, Han G, van der Burgt, Ineke, Chitayat, David, McGaughran, Julie, Donnai, Dian, Luyten, Frank P, Warman, Matthew L

“…We are interested in identifying genes that are responsible for the 'fine tuning' of skeletal structure. Brachydactylies - disorders in which individual bones,…”
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Presence of an RYR2 Mutation is Associated with Sudden Cardiac Events at Presentation in Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) by Kozlovski, J, Ingles, J, Connell, V, Hunt, L, McGaughran, J, Turner, C, Davis, A, Semsarian, C

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