Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy
Neveling, Kornelia, Martinez-Carrera, Lilian A., Hölker, Irmgard, Heister, Angelien, Verrips, Aad, Hosseini-Barkooie, Seyyed Mohsen, Gilissen, Christian, Vermeer, Sascha, Pennings, Maartje, Meijer, Rowdy, te Riele, Margot, Frijns, Catharina J.M., Suchowersky, Oksana, MacLaren, Linda, Rudnik-Schöneborn, Sabine, Sinke, Richard J., Zerres, Klaus, Lowry, R. Brian, Lemmink, Henny H., Garbes, Lutz, Veltman, Joris A., Schelhaas, Helenius J., Scheffer, Hans, Wirth, Brunhilde
Published in American journal of human genetics (06.06.2013)
Published in American journal of human genetics (06.06.2013)
Get full text
Journal Article
Adaptive radiotherapy for muscle invasive bladder cancer: a retrospective audit of two bladder filling protocols
Guel, Diana Nohemi Briceño, Laverick, Nicola, MacLaren, Linda, MacLeod, Nicholas, Glegg, Martin, Lamb, Gillian, Houston, Peter, Carruthers, Ross, Grocutt, Laura, Valentine, Ronan M.
Published in Radiation oncology (London, England) (19.07.2024)
Published in Radiation oncology (London, England) (19.07.2024)
Get full text
Journal Article
Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia
Maroilley, Tatiana, Wright, Nicola A M, Diao, Catherine, MacLaren, Linda, Pfeffer, Gerald, Sarna, Justyna R, Billie Au, Ping Yee, Tarailo-Graovac, Maja
Published in Frontiers in genetics (25.01.2022)
Published in Frontiers in genetics (25.01.2022)
Get full text
Journal Article
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15
DOUCETTE, Lance, MERNER, Nancy D, GREEN, Jane S, WILCOX, Edward R, SHOTLAND, Larry, LI, X. C, LEE, Ming, KING, Mary-Claire, YOUNG, Terry-Lynn, COOKE, Sandra, IVES, Elizabeth, GALUTIRA, Dante, WALSH, Vanessa, WALSH, Tom, MACLAREN, Linda, CATER, Tracey, FERNANDEZ, Bridget
Published in European journal of human genetics : EJHG (01.05.2009)
Published in European journal of human genetics : EJHG (01.05.2009)
Get full text
Journal Article
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan
Ahmed, Zubair M, Li, Xiaoyan Cindy, Powell, Shontell D, Riazuddin, Saima, Young, Terry-Lynn, Ramzan, Khushnooda, Ahmad, Zahoor, Luscombe, Sandra, Dhillon, Kiran, MacLaren, Linda, Ploplis, Barbara, Shotland, Lawrence I, Ives, Elizabeth, Riazuddin, Sheikh, Friedman, Thomas B, Morell, Robert J, Wilcox, Edward R
Published in BMC medical genetics (24.09.2004)
Published in BMC medical genetics (24.09.2004)
Get full text
Journal Article
2898: Improved image quality with breath hold CBCT for pancreatic cancer
Duffton, Aileen, Devlin, Lynsey, MacLaren, Linda, Corish, Siobhan, Paterson, Alice, McFadden, Sharon, Findlay, Alison, James, Kirsty, Allan, Steve, Donohue, Sandra, Holmes, Kerri, Grose, Derek
Published in Radiotherapy and oncology (01.05.2024)
Published in Radiotherapy and oncology (01.05.2024)
Get full text
Journal Article
Adult MTM1 -related myopathy carriers: Classification based on deep phenotyping
Cocanougher, Benjamin T, Flynn, Lauren, Yun, Pomi, Jain, Minal, Waite, Melissa, Vasavada, Ruhi, Wittenbach, Jason D, de Chastonay, Sabine, Chhibber, Sameer, Innes, A Micheil, MacLaren, Linda, Mozaffar, Tahseen, Arai, Andrew E, Donkervoort, Sandra, Bönnemann, Carsten G, Foley, A Reghan
Published in Neurology (15.10.2019)
Published in Neurology (15.10.2019)
Get more information
Journal Article
Erratum: Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15
Doucette, Lance, Merner, Nancy D, Cooke, Sandra, Ives, Elizabeth, Galutira, Dante, Walsh, Vanessa, Walsh, Tom, MacLaren, Linda, Cater, Tracey, Fernandez, Bridget, Green, Jane S, Wilcox, Edward R, Shotland, Larry, Li, X C, Lee, Ming, King, Mary-Claire, Young, Terry-Lynn
Published in European journal of human genetics : EJHG (24.09.2009)
Published in European journal of human genetics : EJHG (24.09.2009)
Get full text
Journal Article
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15
Doucette, Lance, Merner, Nancy D, Cooke, Sandra, Ives, Elizabeth, Galutira, Dante, Walsh, Vanessa, Walsh, Tom, Maclaren, Linda, Cater, Tracey, Fernandez, Bridget, Green, Jane S, Wilcox, Edward R, Shotland, Larry, Li, X C, Lee, Ming, King, Mary-claire, Young, Terry-lynn
Published in European journal of human genetics : EJHG (01.10.2009)
Published in European journal of human genetics : EJHG (01.10.2009)
Get full text
Journal Article
Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia
Maroilley, Tatiana, Wright, Nicola A M, Diao, Catherine, MacLaren, Linda, Pfeffer, Gerald, Sarna, Justyna R, Billie Au, Ping Yee, Tarailo-Graovac, Maja
Published in Frontiers in genetics (01.01.2022)
Published in Frontiers in genetics (01.01.2022)
Get full text
Report
Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome
Nezarati, Marjan M, Loeffler, Judith, Yoon, Grace, MacLaren, Linda, Fung, Ernest, Snyder, Floyd, Utermann, Gerd, Graham, Gail E
Published in American journal of medical genetics (15.06.2002)
Published in American journal of medical genetics (15.06.2002)
Get more information
Journal Article
Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives
Gilchrist, D, Schwarze, U, Shields, K, MacLaren, L, Bridge, P J, Byers, P H
Published in American journal of medical genetics (12.02.1999)
Published in American journal of medical genetics (12.02.1999)
Get more information
Journal Article
Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38)
Schutz, C K, Ives, E J, Chalifoux, M, MacLaren, L, Farrell, S, Robinson, P D, White, B N, Holden, J J
Published in American journal of medical genetics (12.07.1996)
Published in American journal of medical genetics (12.07.1996)
Get more information
Journal Article