Pesquisa | Portal de Pesquisa da BVS Enfermagem

1.

Somatic variants as a cause of drug-resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis.

Carton, Robert J; Doyle, Michael G; Kearney, Hugh; Steward, Charles A; Lench, Nicholas J; Rogers, Anthony; Heinzen, Erin L; McDonald, Seamus; Fay, Joanna; Lacey, Austin; Beausang, Alan; Cryan, Jane; Brett, Francesca; El-Naggar, Hany; Widdess-Walsh, Peter; Costello, Daniel; Kilbride, Ronan; Doherty, Colin P; Sweeney, Kieron J; O'Brien, Donncha F; Henshall, David C; Delanty, Norman; Cavalleri, Gianpiero L; Benson, Katherine A.

Epilepsia ; 65(5): 1451-1461, 2024 May.

Artigo em Inglês | MEDLINE | ID: mdl-38491957

2.

Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.

Kenny, Joanna; Lees, Melissa M; Drury, Susan; Barnicoat, Angela; Van't Hoff, William; Palmer, Rodger; Morrogh, Deborah; Waters, Jonathan J; Lench, Nicholas J; Bockenhauer, Detlef.

Pediatr Nephrol ; 26(8): 1331-4, 2011 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-21597970

3.

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.

Benson, Katherine A; White, Maire; Allen, Nicholas M; Byrne, Susan; Carton, Robert; Comerford, Elizabeth; Costello, Daniel; Doherty, Colin; Dunleavey, Brendan; El-Naggar, Hany; Gangadharan, Nisha; Heavin, Sinéad; Kearney, Hugh; Lench, Nicholas J; Lynch, John; McCormack, Mark; Regan, Mary O'; Podesta, Karl; Power, Kevin; Rogers, Anthony S; Steward, Charles A; Sweeney, Brian; Webb, David; Fitzsimons, Mary; Greally, Marie; Delanty, Norman; Cavalleri, Gianpiero L.

Eur J Hum Genet ; 28(8): 1066-1077, 2020 08.

Artigo em Inglês | MEDLINE | ID: mdl-32238909

4.

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.

Steward, Charles A; Roovers, Jolien; Suner, Marie-Marthe; Gonzalez, Jose M; Uszczynska-Ratajczak, Barbara; Pervouchine, Dmitri; Fitzgerald, Stephen; Viola, Margarida; Stamberger, Hannah; Hamdan, Fadi F; Ceulemans, Berten; Leroy, Patricia; Nava, Caroline; Lepine, Anne; Tapanari, Electra; Keiller, Don; Abbs, Stephen; Sanchis-Juan, Alba; Grozeva, Detelina; Rogers, Anthony S; Diekhans, Mark; Guigó, Roderic; Petryszak, Robert; Minassian, Berge A; Cavalleri, Gianpiero; Vitsios, Dimitrios; Petrovski, Slavé; Harrow, Jennifer; Flicek, Paul; Lucy Raymond, F; Lench, Nicholas J; Jonghe, Peter De; Mudge, Jonathan M; Weckhuysen, Sarah; Sisodiya, Sanjay M; Frankish, Adam.

NPJ Genom Med ; 4: 31, 2019.

Artigo em Inglês | MEDLINE | ID: mdl-31814998

5.

Fine mapping of the IBD1 locus did not identify Crohn disease-associated NOD2 variants: implications for complex disease genetics.

van Heel, David A; McGovern, Dermot P B; Cardon, Lon R; Dechairo, Bryan M; Lench, Nicholas J; Carey, Alisoun H; Jewell, Derek P.

Am J Med Genet ; 111(3): 253-9, 2002 Aug 15.

Artigo em Inglês | MEDLINE | ID: mdl-12210321

6.

Genetics--getting personal.

Lench, Nicholas J.

Drug Discov Today ; 13(5-6): 189-91, 2008 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-18342793

7.

Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF(-kappa)B transcription factors.

van Heel, David A; Udalova, Irina A; De Silva, Arjuna P; McGovern, Dermot P; Kinouchi, Yoshitaka; Hull, Jeremy; Lench, Nicholas J; Cardon, Lon R; Carey, Alisoun H; Jewell, Derek P; Kwiatkowski, Dominic.

Hum Mol Genet ; 11(11): 1281-9, 2002 May 15.

Artigo em Inglês | MEDLINE | ID: mdl-12019209

8.

The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants.

van Heel, David A; Dechairo, Bryan M; Dawson, Gary; McGovern, Dermot P B; Negoro, Kenichi; Carey, Alisoun H; Cardon, Lon R; Mackay, Ian; Jewell, Derek P; Lench, Nicholas J.

Hum Mol Genet ; 12(20): 2569-75, 2003 Oct 15.

Artigo em Inglês | MEDLINE | ID: mdl-12928481

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