Works matching IS 00416193 AND DT 2009 AND VI 78 AND IP 1

Results: 83

Chronic kidney disease associated with mortality in Northern Ireland.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 63

By:

Quinn, M.;
Cardwell, C.;
Savage, G.;
Maxwell, A. P.;
Kee, F.;
Fogarty, D.

Publication type:

Article

Clinical Skills for OSCEs (Third Edition).

Published in:

2009

By:

Spence, Roy A. J.

Publication type:

Book Review

The History of Medicine, Money, and Politics: Riding the Rollercoaster of State Medicine.

Published in:

2009

By:

Kelly, Barry

Publication type:

Book Review

Who's Who of the Brain. A Guide to Its Inhabitants, Where They Live and What They Do.

Published in:

2009

By:

Morrow, Jim

Publication type:

Book Review

George Guthrie -- Soldier and Pioneer Surgeon.

Published in:

2009

By:

Spence, Roy A. J.

Publication type:

Book Review

MRSA in Practice.

Published in:

2009

By:

Elbaz, Wesam

Publication type:

Book Review

A RETROSPECTIVE AUDIT OF AUTISM REFERRALS TO THE NORTHERN IRELAND REGIONAL GENETICS SERVICE BETWEEN 1988-2008.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 74

By:

Harris, C.;
McConnell, V.

Publication type:

Article

IL18 AND IL2 POLYMORPHISM IN PSORIASIS SUSCEPTIBILITY IN THE IRISH POPULATION.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 74

By:

Ryan, Anthony W.;
Al-Jubury, Kutaiba;
Turner, Graham;
Gallagher, Phil;
Irvine, Alan;
Fitzgerald, Oliver;
Kirby, Brian;
McManus, Ross

Publication type:

Article

PHENOTYPE AND GENOTYPE ANALYSIS OF FAMILIAL PERIODIC PARALYSIS IN IRISH FAMILIES.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 74

By:

Kelly, S. B.;
Parfrey, N. A.;
Ryan, A. M.;
Hand, C. K.

Publication type:

Article

THE SEARCH FOR GENES INVOLVED IN VESICOURETERIC REFLUX.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 74

By:

Wei San Wong;
McGuinness, Claire;
Darlow, John M.;
Green, Andrew J.;
Puri, Prem;
Barton, David E.

Publication type:

Article

RET VARIATION IN THE AETIOLOGY OF VESICOURETERIC REFLUX.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 73

By:

Molloy, Niamh H. N.;
Darlow, John M.;
Green, Andrew J.;
Puri, Prem;
Barton, David E.

Publication type:

Article

EPIGENETIC SUPPRESSION OF CTNNA3 AND ITS NESTED GENE LRRTM3 IN UROTHELIAL CARCINOMA OF THE BLADDER (UCB).

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 73

By:

Meehan, Maria;
Watson, Jenny;
Gallagher, Emma;
Mc Goldrick, Alo;
Harrison, Michèle;
Kay, Elaine;
Fitzpatrick, John;
Dervan, Peter;
Mc Cann, Amanda

Publication type:

Article

NO EVIDENCE OF ASSOCIATION BETWEEN POLYMORPHISMS IN A 2P25 GENE-CLUSTER WITH VARIATION IN BONE MINERAL DENSITY.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 73

By:

Hegarty, K. G.;
Daly, M.;
Shanahan, F.;
Molloy, M. G.

Publication type:

Article

NOVEL GENOMIC PATHWAY ANALYSIS OF GENOME-WIDE ASSOCIATION STUDIES: IDENTIFICATION OF ERBB SIGNALLING AS A SUSCEPTIBILITY PATHWAY IN PARKINSON'S DISEASE.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 73

By:

O'Dushlaine, Colm T.;
Kenny, Elaine;
Pinto, Carlos;
Gilks, William P.;
Gill, Michael;
Morris, Derek W.;
Corvin, Aiden

Publication type:

Article

LARGE SCALE PATHWAY-BASED ANALYSIS OF GENOME-WIDE ASSOCIATION STUDY DATA: IMPLICATIONS AND APPLICATIONS.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 72

By:

Kenny, Elaine;
O'Dushlaine, Colm T.;
Morris, Derek W.;
Anney, Richard J. L.;
Gill, Michael;
Corvin, Aiden P.

Publication type:

Article

ALLELIC EXPRESSION IMBALANCE ANALYSIS OF PSYCHOSIS SUSCEPTIBILITY GENES.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 72

By:

Quinn, Emma;
Hill, Matthew;
Anney, Richard;
Gill, Michael;
Morris, Derek;
Corvin, Aiden

Publication type:

Article

A ROLE FOR GENETIC VARIATION AT HOMER2 IN SCHIZOPHRENIA: FURTHER EVIDENCE FROM IRISH AND OTHER EUROPEAN POPULATIONS.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 72

By:

Gilks, William P.;
Allott, Emma;
Gill, Michael;
Corvin, Aiden P.;
Morris, Derek W.

Publication type:

Article

NOVEL SPLICE SITE MUTATIONS AS THE CAUSE OF FAP-RELATED CANCER IN TWO FAMILIES.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 72

By:

Sweet, K.;
McIlhatton, B.;
McConnell, V.;
Logan, P.;
Graham, C.

Publication type:

Article

PARTIAL TRISOMY FOR THE 17Q SUBTELOMERE REGION: FIRST CASE REPORT AND REVIEW OF THE LITERATURE.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 72

By:

McConnell, V.;
Smith, G.;
McCullough, S.

Publication type:

Article

GENOME-WIDE ASSOCIATION (GWA) STUDY OF ATTENTION DEFICIT HYPERACTIVITY DISORDER-COMBINED TYPE (ADHD-CT); ADJUSTMENT FOR GENETIC HETEROGENEITY IN LARGE MULTICENTRE STUDIES.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 72

By:

Anney, Richard;
Hill, Matthew;
O'Dushlaine, Colm;
Kenny, Elaine;
Gill, Michael

Publication type:

Article

DETECTION OF A 12P13 CHROMOSOME ANOMALY INVOLVING ETV6 AT RELAPSE IN AN ADOLESCENT PRESENTING WITH CYTOGENETICALLY NORMAL, FLT3-ITD<sup>+</sup>, TYPE A NPM1<sup>+</sup> DE NOVO AML (M5 FAB-TYPE).

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 71

By:

McGrattan, P.;
Humphreys, M. W.;
Mills, K. I.;
Gilkes, A. F.;
McMullin, M. F.

Publication type:

Article

DEVELOPMENT OF A RETINITIS PIGMENTOSA (RP) GENOTYPING MICROARRAY AND DETECTION OF KNOWN AND NOVEL MUTATIONS IN A COHORT OF NORTHERN IRISH RP PATIENTS.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 71

By:

Clark, G. R.;
Muszynska, D.;
Alexander, S.;
Crowe, P.;
O'Neill, J.;
McKay, G. J.;
Silvestri, G.;
Simpson, D. A. C.

Publication type:

Article

A 5Q DELETION WITH A CRYPTIC ETV6/RUNX1 IN A CASE OF CHILDHOOD ALL.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 71

By:

McNerlan, S. E.;
McGrattan, P.;
Cairns, C.;
Dempsey, S. I.;
Humphreys, M. W.

Publication type:

Article

AAV-MEDIATED CHRONIC OVER-EXPRESSION OF SNAP-25 IN ADULT RAT DORSAL HIPPOCAMPUS INCREASES EXTRACELLULAR GLUTAMATE AND IMPAIRS SPATIAL LEARNING.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 71

By:

McKee, Alex G.;
O'Sullivan, Niamh C.;
Chadderton, Naomi;
Loscher, Jennifer S.;
O'Shea, Sean;
Moran, Mary;
McCabe, Olive;
Fernández, Alfonso Blanco;
Pangalos, Menelas N.;
Regan, Ciaran M.;
O'Connor, William T.;
Humphries, Peter;
Farrar, G. Jane;
Murphy, Keith J.

Publication type:

Article

THE DESIGN OF A THERAPEUTIC STRATEGY FOR DOMINANTLY INHERITED RETINITIS PIGMENTOSA FOR USE IN LARGER ANIMAL MODELS.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 71

By:

Kilty, C. A.;
O'Reilly, M.;
Millington-Ward, S.;
Kenna, P. F.;
Chadderton, N.;
Palfi, A.;
Humphries, P.;
Farrar, G. J.

Publication type:

Article

DOES NOGGIN CAUSE TWINNING?

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 70

By:

Russell, Miriam;
Lynch, Sally Ann

Publication type:

Article

NON-MOSAIC TRISOMY 22 IN A LIVE-BORN MALE.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 70

By:

Magee, Alex;
Beckett, A.;
Humphreys, M.;
Harper, A.;
Casey, F.;
Stewart, F.

Publication type:

Article

CHALLENGES IN GENETIC COUNSELLING ARISING FROM THE RISK OF MULTIPLE GENETIC CONDITIONS IN A SINGLE FAMILY.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 70

By:

Ward, Alana;
DeBaroid, Cliona;
Lynch, Sally-Ann

Publication type:

Article

MULTIPLEX MASSARRAY SPECTROMETRY (IPLEX) PRODUCES A FAST AND ECONOMICAL TEST FOR THE DIAGNOSIS OF FAMILIAL HYPERCHOLESTEROLAEMIA.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 70

By:

Wright, William T.;
Hart, Pádraig J.;
Heggarty, Shirley V.;
Young, Ian S.;
Nicholls, D. Paul;
Graham, Colin A.

Publication type:

Article

AN ATTENUATED FORM OF MORQUIO DISEASE SEEN IN NORTHERN IRELAND.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 70

By:

Stewart, Fiona;
Tylee, Karen;
Bradley, Aoife;
Cooper, Alan

Publication type:

Article

ABNORMALITIES OF 3Q26 IN MYELOID MALIGNANCY: THE BELFAST EXPERIENCE.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 69

By:

McNerlan, S. E.;
McGrattan, P.;
Logan, A.;
Humphreys, M.

Publication type:

Article

A FAMILIAL T(2;9)(Q37.3;Q12) TRANSLOCATION: AN ILLUSTRATION OF THE POTENTIAL LIMITATIONS OF COMMERCIALLY AVAILABLE FISH PROBES.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 69

By:

Dunlop, Adam;
Green, Andrew;
Clarke, Gillian;
Betts, David

Publication type:

Article

PHENOTYPIC VARIANTS IN MELAS.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 69

By:

Donnelly, Deirdre;
McKee, Shane

Publication type:

Article

VITAMIN D RECEPTOR POLYMORPHISMS FOK 1 AND APA 1 HAVE NO ASSOCIATION WITH SKIN CANCER IN RENAL TRANSPLANT PATIENTS.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 69

By:

Laing, M. E.;
Dicker, P.;
Conlon, P. J.;
Shields, D.;
Murphy, G. M.

Publication type:

Article

MOLECULAR ANALYSIS OF KERATOCONUS IN NORTHERN IRELAND.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 69

By:

Dash, D. P.;
George, Sonia;
Silvestri, G.;
Jackson, J.;
Frazer, D.;
Hughes, A. E.;
Willoughby, C. E.

Publication type:

Article

AN APPROACH TO IDENTIFY NOVEL HUMAN FOLATE RESPONSIVE GENES.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 68

By:

Fiedler, Christian;
Parle-McDermott, Anne

Publication type:

Article

UNCOMMON PRESENTATION FEATURES OF THE T(8;14) (Q11.2;Q32) TRANSLOCATION IN ACUTE LYMPHOBLASTIC LEUKAEMIA (ALL).

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 68

By:

Kelly, Johanna;
Bermingham, Claire;
Carty, Paula;
O'Marcaigh, Aengus;
Enright, Helen;
Betts, David

Publication type:

Article

INVESTIGATION OF THE PUTATIVE FUNCTIONAL EFFECT OF THE 19BP DELETION POLYMORPHISM WITHIN INTRON 1 OF THE DIHYDROFOLATE REDUCTASE (DHFR) GENE.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 68

By:

Magee, Alan;
O'Brien, Kirsty;
Parle-McDermott, Anne

Publication type:

Article

VARIANTS IN THE NESTIN GENE AND CORONARY HEART DISEASE.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 68

By:

Meng, W.;
Hughes, A.;
Patterson, C. C.;
Belton, C.;
McKeown, P. P.

Publication type:

Article

FOUR CASES OF MOWAT-WILSON SYNDROME.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 68

By:

Bradley, L.;
Green, A. J.;
Lynch, S. A.

Publication type:

Article

ABSTRACT: FUNCTIONAL ASSESSMENT OF S100B AS A SUSCEPTIBILITY GENE FOR PSYCHOTIC BIPOLAR DISORDER.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 67

By:

Dagdan, E.;
McKeon, P.;
Roche, S.

Publication type:

Article

A FUNCTIONAL PROMOTER POLYMORPHISM WITHIN MTHFD1 MAY INCREASE NEURAL TUBE DEFECT RISK IN THE IRISH POPULATION THROUGH AN INTERACTION WITH THE R653Q POLYMORPHISM.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 67

By:

Carroll, Nicola;
Pangilinan, Faith;
Molloy, Anne M.;
Troendle, James;
Mills, James L.;
Kirke, Peadar N.;
Brody, Lawrence C.;
Scott, John M.;
Parle-McDermott, Anne

Publication type:

Article

ANALYZING ILLUMINA HUMAN 1M SNP DATA FOR CNVS USING RAW BEAD-LEVEL DATA.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 67

By:

Shah, Naisha;
Conroy, Judith;
Regan, Regina;
Ennis, Sean;
Shields, Denis C.

Publication type:

Article

INVESTIGATING PROMOTER HYPERMETHYLATION OF APOPTOTIC GENES IN PROSTATE CANCER.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 67

By:

Murphy, T. M.;
Perry, A. S.;
O'Connor, L.;
Lawler, M.

Publication type:

Article

DEVELOPMENT OF GENE THERAPIES FOR DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 67

By:

Morgan, C. P.;
Allen, D.;
Kenna, P. F.;
Humphries, P.;
Farrar, G. J.

Publication type:

Article

FUNCTIONAL ANALYSIS OF POLYMORPHISMS IN GENES IMPLICATED IN PSYCHIATRIC DISORDERS.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 66

By:

Hill, Matthew;
Anney, Richard;
Gill, Michael

Publication type:

Article

MODELLING ABERRANT SPLICING IN MUTANT GENES.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 66

By:

Willoughby, C. E.;
O'Prey, D.;
Simpson, D. A. C.

Publication type:

Article

POLYMORPHISMS IN THE OXYTOCIN RECEPTOR GENE AND AUTISM: ASSOCIATION AND FUNCTIONAL STUDIES.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 66

By:

Tansey, Katherine;
Hill, Matthew;
Anney, Richard;
Gill, Michael;
Gallagher, Louise

Publication type:

Article

BIALLELIC DELETIONS OF CHROMOSOME 13Q ARE FREQUENT AT DIAGNOSIS IN CHRONIC LYMPHOCYTIC LEUKAEMIA.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 65

By:

Carty, Paula;
Kelly, Johanna;
McCabe, Sarah;
Coen, Natasha;
Bermingham, Claire;
Morris, Thomas;
Betts, David

Publication type:

Article

A CLOSER LOOK AT MISSINGNESS: THE IMPLICATIONS OF NON-RANDOM MISSINGNESS ON FALSE POSITIVE ASSOCIATION IN GENOTYPE CALLING APPROACHES FOR GENOME WIDE ASSOCIATION DATA.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 66

By:

Anney, Richard;
Kenny, Elaine;
O'Dushlaine, Colm;
Su, Jessica;
Franke, Barbara;
Neale, Ben;
Faraone, Steven;
Gill, Michael

Publication type:

Article