Connexin 26 mutations in hereditary non-syndromic sensorineural deafness von Kelsell, D. P., Dunlop, J., Stevens, H. P., Lench, N. J., Liang, J. N., Parry, G., Mueller, R. F., Leigh, I. M.

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Extent and Distribution of Linkage Disequilibrium in Three Genomic Regions von Abecasis, Gonçalo R., Noguchi, Emiko, Heinzmann, Andrea, Traherne, James A., Bhattacharyya, Sumit, Leaves, Nicholas I., Anderson, Gavin G., Zhang, Youming, Lench, Nicholas J., Carey, Alisoun, Cardon, Lon R., Moffatt, Miriam F., Cookson, William O.C.

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Co‐Producing a Package of Novel Online Resources to Support the Mental Health Needs of People With Persistent Pain: BeeFree von Stevenson, K., Evans, N., Campbell, L., Callaghan, P., Lench, J., McDonald, J., Chew‐Graham, C. A., Kingstone, T.

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Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF-κB transcription factors von 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

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Analysis of the IBD5 locus and potential gene-gene interactions in Crohn’s disease von Negoro, K, McGovern, D P B, Kinouchi, Y, Takahashi, S, Lench, N J, Shimosegawa, T, Carey, A, Cardon, L R, Jewell, D P, van Heel, D A

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

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

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Genetics – getting personal von Lench, Nicholas J.

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Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter von Jackson, Andrew P., McHale, Duncan P., Campbell, David A., Jafri, Hussain, Rashid, Yasmin, Mannan, Jovaria, Karbani, Gulshan, Corry, Peter, Levene, Malcolm I., Mueller, Robert F., Markham, Alexander F., Lench, Nicholas J., Woods, C. Geoffrey

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

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A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34 von Moynihan, Leanne, Jackson, Andrew P., Roberts, Emma, Karbani, Gulshan, Lewis, Ian, Corry, Peter, Turner, Gwen, Mueller, Robert F., Lench, Nicholas J., Woods, C. Geoffrey

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

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Inflammatory bowel disease is linked to 19p13 and associated with ICAM‐1 von Low, Jin Hong, Williams, Fiona A., Yang, Xuesong, Cullen, Sue, Colley, James, Ling, Khoon Lin, Armuzzi, Alessandro, Ahmad, Tariq, Neville, Matt J., Dechairo, Bryan M., Walton, Robert, Lench, Nick J., Jewell, Derek P.

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Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss von Scott, DA, Kraft, ML, Carmi, R, Ramesh, A, Elbedour, K, Yairi, Y, Srisailapathy, C. R. Srikumari, Rosengren, SS, Markham, AF, Mueller, RF, Lench, NJ, Van Camp, G, Smith, RJH, Sheffield, VC

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The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1–13.2 von Roberts, Emma, Jackson, Andrew P, Carradice, Abigail C, Deeble, V Jayne, Mannan, Jovaria, Rashid, Yasmin, Jafri, Hussain, McHale, Duncan P, Markham, Alex F, Lench, Nicholas J, Woods, C Geoffrey

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Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome von LENCH, N. J, TELFORD, E. A. R, HIGH, A. S, MARKHAM, A. F, WICKING, C, WAINWRIGHT, B. J

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A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment von Hutchin, T P, Parker, M J, Young, I D, Davis, A C, Pulleyn, L J, Deeble, J, Lench, N J, Markham, A F, Mueller, R F

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

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A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25 von McHale, D.P., Mitchell, S., Bundey, S., Moynihan, L., Campbell, D.A., Woods, C.G., Lench, N.J., Mueller, R.F., Markham, A.F.

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Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans von Nguyen, Tien V, Andresen, Brage S, Corydon, Thomas J, Ghisla, Sandro, Abd-El Razik, Nasser, Mohsen, Al-Walid A, Cederbaum, Stephen D, Roe, Diane S, Roe, Charles R, Lench, Nicolas J, Vockley, Jerry

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