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283 results on '"Geraghty, M."'

3. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

Author

Sawyer, S. L., Hartley, T., Dyment, D. A., Beaulieu, C. L., Schwartzentruber, J., Smith, A., Bedford, H. M., Bernard, G., Bernier, F. P., Brais, B., Bulman, D. E., Chardon, Warman J., Chitayat, D., Deladoëy, J., Fernandez, B. A., Frosk, P., Geraghty, M. T., Gerull, B., Gibson, W., Gow, R. M., Graham, G. E., Green, J. S., Heon, E., Horvath, G., Innes, A. M., Jabado, N., Kim, R. H., Koenekoop, R. K., Khan, A., Lehmann, O. J., Mendoza-Londono, R., Michaud, J. L., Nikkel, S. M., Penney, L. S., Polychronakos, C., Richer, J., Rouleau, G. A., Samuels, M. E., Siu, V. M., Suchowersky, O., Tarnopolsky, M. A., Yoon, G., Zahir, F. R., Majewski, J., and Boycott, K. M.

Published
2016
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5. Large primary splenic cyst: A laparoscopic technique

Author

Geraghty M, Khan I, and Conlon K

Subjects
Fenestration, laparoscopic, splenic cyst, Surgery, RD1-811, Diseases of the digestive system. Gastroenterology, RC799-869
Abstract

Splenic cysts are rare lesions with around 800 cases reported in the world literature. Traditionally splenectomy was the treatment of choice. However, with the recognition of the important immunological function of the spleen, new techniques to preserve splenic function have been developed. This case emphasizes that in selected cases splenic preservation is appropriate.

Published
2009

26. Irish Paediatric Association: Proceedings of the annual clinical meeting, Dublin, May 20th – 21st 1988

Author

McLoughlin, R., Geally, P., Monaghan, H., O’Connell, E., Cullen, S., Blake, N. S., Ward, O. C., Stewart, M., Savage, J. M., Scott, M. J., Puri, P., O’Donnell, B., Stewart, R. J., Boston, V. B., Glasgow, J., Thomas, P., Sweeney, L., Parks, T. G. P., Dodge, J., Hoey, Hilary, Loftus, E., Farrell, F., McAlcon, J., Moneypenny, B., Carson, D., Naughton, E., Kiely, B., Saul, I., Thornton, P. S., Donoghue, V., Buckley, I., Bourke, A., Walshe, M., Murphy, J. F., Lowery, M., Lillis, D., Fitzsimons, R., Kearney, P., McKieman, J., Cole, M., Fox, Gay, Matthews, T., Devlin, J., Leahy, F., McClean, P., Dodge, J. A., Akhtar, T., Roghain, M. T. F., Ahmed, A., Bergin, Ann, Gill, D., Carson, J. W. K., Gleeson, J. G. A., Price, J. F., Bell, Angela H., McClure, G., McCullagh, P. J., Halliday, H. L., Hicks, E. M., Geraghty, M., King, M., Farrell, M., Murphy, Fionnuala, Quinn, M. W., Hayward, R., Grant, N., McMenamin, J., O’Brien, P., Denham, B., Wilson, D. C., Carson, D. J., Quinn, R. J. M., Murphy, E., Heame, R., O’Sullivan, B. J., Murphy, A., Rabie, I., McShane, D., Ward, D., King, Mary, Harte, C., Connolly, K., and Carr, C.

Published
1989
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27. Proceedings of the Irish Neurological Association 24th Annual Scientific Meeting, Beaumont Hospital, May 1988

Author

O’Dwyer, J. A., Toland, J. A., Geraghty, M., Hardiman, O., Keogan, M., O’Moore, B., King, M., Farrell, M. A., O’Neill, D., Rowan, M., Abrahamson, D., P. Walsh, J., Coakley, D., Feeley, J., Fahy, J., Glynn, D., Hutchinson, M., McMenamin, J., Monaghan, G., Khan, Y., Diamond, T., Gray, W. J., Chee, C. P., Fannin, T. F., Murphy, S. F., Phillips, J. P., Connolly, S., Byrnes, Dermot P., Patterson, V., Hicks, E., Taylor, T., Brown, R. H., Farrell, M. A., Halperin, J. J., Shapiro, B. E., Wray, I. S., McMackin, D., Murphy, S., Staunton, H., Phillips, J., Farrell, M., Radford, I., Trew, K. J., Hawkins, S. A., Burke, T. E., Keelin, T., Lord, D., O’Farrell, A. G., Connolly, M. J., Stack, J., Martin, E. A., Bergin, A., Keoghane, C., Callaghan, N., O’Riordan, T., Daly, P. A., Shattock, A., Gardner, S., Davies, M. G., Rowan, M. J., MacMathuna, P., Keeling, P. W. N., Weir, D. G., Feely, J., McLoughlin, P., Keelan, T., Tormey, W., Donohoe, J., O’Donovan, C., Browne, O., Dinn, J. J., Fry, G. C., Pidgeon, C. N., Regan, M., Moran, J., Moran, Liz, O’Kennedy, R., and Kaar, G.

Published
1989
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31. The spectrum of SCN1A-related infantile epileptic encephalopathies.

Author

Crow Y., Seltzer W.K., Gardner A., Sutherland G., Berkovic S.F., Mulley J.C., Scheffer I.E., Abbott K., Andrews I., Appleton B., Bleasel A., Buchanan N., Burke C., Bye A., Camfield C., Camfield P., Chow G., Collins K., Cook M., Cross J.H., D'Agostino M.D., Delatycki M., Dunkley C., Fawke J., Ferrie C., Geraghty M., Graham G., Grattan-Smith P., Hallam E., Hamiwka L., Harding A., Harvey S., Hayman M., Hufton I., Humphries P., Jacob P., Jacquemard R., Jamison D., Jardine P., Jones S., Keene D., Kelley K., Ketteridge D., Kim A., Kivity S., Kneebone C., Kornberg A., Lamb C., Lander C., Lerman-Sagie T., Lev D., Leventer R., Mackay M., Malone S., Manson J., McLellan A., Moore P., Nagarajan L., Nash M., Nikanorova M., Nordli D., O'Regan M., Ouvrier R., Patel J., Pridmore C., Ramesh V., Reutens D., Rowe P., Shield L., Shillito P., Smith L., Spooner C., Wallace G., Watemberg N., Whitehouse W., Wirrell E., Harkin L.A., McMahon J.M., Iona X., Dibbens L., Pelekanos J.T., Zuberi S.M., Sadleir L.G., Andermann E., Gill D., Farrell K., Connolly M., Stanley T., Harbord M., Andermann F., Wang J., Batish S.D., Jones J.G., Crow Y., Seltzer W.K., Gardner A., Sutherland G., Berkovic S.F., Mulley J.C., Scheffer I.E., Abbott K., Andrews I., Appleton B., Bleasel A., Buchanan N., Burke C., Bye A., Camfield C., Camfield P., Chow G., Collins K., Cook M., Cross J.H., D'Agostino M.D., Delatycki M., Dunkley C., Fawke J., Ferrie C., Geraghty M., Graham G., Grattan-Smith P., Hallam E., Hamiwka L., Harding A., Harvey S., Hayman M., Hufton I., Humphries P., Jacob P., Jacquemard R., Jamison D., Jardine P., Jones S., Keene D., Kelley K., Ketteridge D., Kim A., Kivity S., Kneebone C., Kornberg A., Lamb C., Lander C., Lerman-Sagie T., Lev D., Leventer R., Mackay M., Malone S., Manson J., McLellan A., Moore P., Nagarajan L., Nash M., Nikanorova M., Nordli D., O'Regan M., Ouvrier R., Patel J., Pridmore C., Ramesh V., Reutens D., Rowe P., Shield L., Shillito P., Smith L., Spooner C., Wallace G., Watemberg N., Whitehouse W., Wirrell E., Harkin L.A., McMahon J.M., Iona X., Dibbens L., Pelekanos J.T., Zuberi S.M., Sadleir L.G., Andermann E., Gill D., Farrell K., Connolly M., Stanley T., Harbord M., Andermann F., Wang J., Batish S.D., and Jones J.G.

Abstract

The relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established. To explore the phenotypic variability associated with SCN1A mutations, 188 patients with a range of epileptic encephalopathies were examined for SCN1A sequence variations by denaturing high performance liquid chromatography and sequencing. All patients had seizure onset within the first 2 years of life. A higher proportion of mutations were identified in patients with SMEI (52/66; 79%) compared to patients with SMEB (25/36; 69%). By studying a broader spectrum of infantile epileptic encephalopathies, we identified mutations in other syndromes including cryptogenic generalized epilepsy (24%) and cryptogenic focal epilepsy (22%). Within the latter group, a distinctive subgroup designated as severe infantile multifocal epilepsy had SCN1A mutations in three of five cases. This phenotype is characterized by early onset multifocal seizures and later cognitive decline. Knowledge of an expanded spectrum of epileptic encephalopathies associated with SCN1A mutations allows earlier diagnostic confirmation for children with these devastating disorders. © The Author (2007). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved.

Published
2012

32. X-linked adrenoleukodystrophy: genes, mutations, and phenotypes

Author

Smith, K. D., Stephan Kemp, Braiterman, L. T., Lu, J. -F, Wei, H. -M, Geraghty, M., Stetten, G., Bergin, J. S., Pevsner, J., Watkins, P. A., and Other departments

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, endocrine system diseases, nutritional and metabolic diseases
Abstract

X-linked adrenoleukodystrophy (X-ALD) is a complex and perplexing neurodegenerative disorder. The metabolic abnormality, elevated levels of very long-chain fatty acids in tissues and plasma, and the biochemical defect, reduced peroxisomal very long-chain acyl-CoA synthetase (VLCS) activity, are ubiquitous features of the disease. However, clinical manifestations are highly variable with regard to time of onset, site of initial pathology and rate of progression. In addition, the abnormal gene in X-ALD is not the gene for VLCS. Rather, it encodes a peroxisomal membrane protein with homology to the ATP-binding cassette (ABC) transmembrane transporter superfamily of proteins. The X-ALD protein (ALDP) is closely related to three other peroxisomal membrane ABC proteins. In this report we summarize all known X-ALD mutations and establish the lack of an X-ALD genotype/phenotype correlation. We compare the evolutionary relationships among peroxisomal ABC proteins, demonstrate that ALDP forms homodimers with itself and heterodimers with other peroxisomal ABC proteins and present cDNA complementation studies suggesting that the peroxisomal ABC proteins have overlapping functions. We also establish that there are at least two peroxisomal VLCS activities, one that is ALDP dependent and one that is ALDP independent. Finally, we discuss variable expression of the peroxisomal ABC proteins and ALDP independent VLCS in relation to the variable clinical presentations of X-ALD

Published
1999

34. Hypoglycaemia in an adult male: a surprising finding in pursuit of insulinoma.

Author

Geraghty M, Draman M, Moran D, Muldoon C, Reynolds JV, Cullen MJ, Geraghty, M, Draman, M, Moran, D, Muldoon, C, Reynolds, J V, and Cullen, M J

Abstract

A 50-year-old man who had suffered several episodes of early morning sweats and tremors was diagnosed as having hyperinsulinaemic hypoglycaemia. Cross-sectional imaging and endoscopic ultrasound revealed no pancreatic lesion. A selective intra-arterial calcium infusion study showed a two-fold increase of insulin secretion after infusion of the splenic and superior mesenteric arteries. Laparotomy was performed, no lesion was identified after full mobilisation of the pancreas, and nothing was evident with intra-operative ultrasound. A distal pancreatectomy was performed. Microscopically, the pancreas exhibited diffuse islet cell hyperplasia consistent with nesidioblastosis. The patient remains euglycaemic eight months post-operatively. [ABSTRACT FROM AUTHOR]

Published
2008
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35. Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Author

Lionel, A. C., primary, Tammimies, K., additional, Vaags, A. K., additional, Rosenfeld, J. A., additional, Ahn, J. W., additional, Merico, D., additional, Noor, A., additional, Runke, C. K., additional, Pillalamarri, V. K., additional, Carter, M. T., additional, Gazzellone, M. J., additional, Thiruvahindrapuram, B., additional, Fagerberg, C., additional, Laulund, L. W., additional, Pellecchia, G., additional, Lamoureux, S., additional, Deshpande, C., additional, Clayton-Smith, J., additional, White, A. C., additional, Leather, S., additional, Trounce, J., additional, Melanie Bedford, H., additional, Hatchwell, E., additional, Eis, P. S., additional, Yuen, R. K. C., additional, Walker, S., additional, Uddin, M., additional, Geraghty, M. T., additional, Nikkel, S. M., additional, Tomiak, E. M., additional, Fernandez, B. A., additional, Soreni, N., additional, Crosbie, J., additional, Arnold, P. D., additional, Schachar, R. J., additional, Roberts, W., additional, Paterson, A. D., additional, So, J., additional, Szatmari, P., additional, Chrysler, C., additional, Woodbury-Smith, M., additional, Brian Lowry, R., additional, Zwaigenbaum, L., additional, Mandyam, D., additional, Wei, J., additional, MacDonald, J. R., additional, Howe, J. L., additional, Nalpathamkalam, T., additional, Wang, Z., additional, Tolson, D., additional, Cobb, D. S., additional, Wilks, T. M., additional, Sorensen, M. J., additional, Bader, P. I., additional, An, Y., additional, Wu, B.-L., additional, Musumeci, S. A., additional, Romano, C., additional, Postorivo, D., additional, Nardone, A. M., additional, Monica, M. D., additional, Scarano, G., additional, Zoccante, L., additional, Novara, F., additional, Zuffardi, O., additional, Ciccone, R., additional, Antona, V., additional, Carella, M., additional, Zelante, L., additional, Cavalli, P., additional, Poggiani, C., additional, Cavallari, U., additional, Argiropoulos, B., additional, Chernos, J., additional, Brasch-Andersen, C., additional, Speevak, M., additional, Fichera, M., additional, Ogilvie, C. M., additional, Shen, Y., additional, Hodge, J. C., additional, Talkowski, M. E., additional, Stavropoulos, D. J., additional, Marshall, C. R., additional, and Scherer, S. W., additional

Published
2013
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37. Sublocalization of the synovial sarcoma-associated t(X;18) chromosomal breakpoint in Xp11.2 using cosmid cloning and fluorescence in situ hybridization

Author

Leeuw, B de, Suijkerbuijk, R F, Balemans, M, Sinke, R J, de Jong, Bauke, Molenaar, W M, Meloni, A M, Sandberg, A A, Geraghty, M, Hofker, M, Center for Liver, Digestive and Metabolic Diseases (CLDM), and Vascular Ageing Programme (VAP)

Subjects
SEQUENCES, FEATURES, EPITHELIAL DIFFERENTIATION, ABERRATIONS, TUMORS, TRANSLOCATION
Abstract

In a previous study we localized the synovial sarcoma-associated t(X;18)(p11;q11) breakpoint within the ornithine aminotransferase-like 1 (OATL1) cluster on the X chromosome. This localization was delineated from both somatic cell hybrid and fluorescence in situ hybridization (FISH) analysis of patient material, using OAT-specific cDNA and YAC probes. Simultaneously, Knight et al. (1992, MoL Hum. Genet, in press) mapped this same breakpoint in their patient material adjacent to the more proximal OATL2 region on the X chromosome. Here we report the analysis of two additional tumors and demonstrate that again in these cases the chromosomal break occurs within the OATL1 cluster. In order to further specify the breakpoint, we subcloned the OATL1 YAC (no. 2) into cosmids. At least one of these cosmids (0.38) hybridizes to sequences that bracket the translocation breakpoint, as demonstrated by both Southern blot and FISH analysis. These observations confirm and substantiate our previous findings. In addition, cosmid 0.38 should be a valuable instrument for the ultimate isolation and identification of the gene(s) involved in the development of synovial sarcoma.

Published
1993

44. On Lipschitz structures.

Author

Geraghty, M. A

Subjects
Mathematics
Abstract

Uniform structure for Lipschitz condition on functions between sets, extensions to nonmetric spaces and fixed point theorem for uniform spaces

Published
1965

47. PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome

Author

Marsh, D. J., primary, Kum, J. B., additional, Lunetta, K. L., additional, Bennett, M. J., additional, Gorlin, R. J., additional, Ahmed, S. F., additional, Bodurtha, J., additional, Crowe, C., additional, Curtis, M. A., additional, Dasouki, M., additional, Dunn, T., additional, Feit, H., additional, Geraghty, M. T., additional, Graham, J. M., additional, Hodgson, S. V., additional, Hunter, A., additional, Korf, B. R., additional, Manchester, D., additional, Miesfeldt, S., additional, Murday, V. A., additional, Nathanson, K. L., additional, Parisi, M., additional, Pober, B., additional, Romano, C., additional, Tolmie, J. L., additional, Trembath, R., additional, Winter, R. M., additional, Zackai, E. H., additional, Zori, R. T., additional, Weng, L.-P., additional, Dahia, P. L. M., additional, and Eng, C., additional

Published
1999
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