Ngā hua rapu - Goudie, David

Multiple Self-Healing Squamous Epithelioma (MSSE): A Digenic Trait Associated with Loss of Function Mutations in TGFBR1 and Variants at a Second Linked Locus on the Long Arm of Chr... mā Goudie, David

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Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL) mā Maniam, Pavithran, Zhou, Kaixin, Lonergan, Mike, Berg, Jonathan N, Goudie, David R, Newey, Paul J

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Assessing the effectiveness of NICE criteria for stratifying breast cancer risk in a UK cohort mā Littlejohn, Lucy A., Gibbs, Jim, Jordan, Lee B., Miedzybrodzka, Zosia H., Bell, Christine, Goudie, David, Dunlop, Jacqueline, Berg, Jonathan N.

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Why do women not return family history forms when referred to breast cancer genetics services? A mixed‐method study mā Hanning, Kirstie A., Steel, Michael, Goudie, David, McLeish, Lorna, Dunlop, Jackie, Myring, Jessica, Sullivan, Frank, Berg, Jonathan, Humphris, Gerry, Ozakinci, Gozde

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Faecal haemoglobin concentration in adenoma, before and after polypectomy, approaches the ideal tumour marker mā Mowat, Craig, Digby, Jayne, Cleary, Shirley, Gray, Lynne, Datt, Pooja, Goudie, David R, Steele, Robert JC, Strachan, Judith A, Humphries, Adam, Fraser, Callum G

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Faecal haemoglobin can define risk of colorectal neoplasia at surveillance colonoscopy in patients at increased risk of colorectal cancer mā Digby, Jayne, Cleary, Shirley, Gray, Lynne, Datt, Pooja, Goudie, David R, Steele, Robert J C, Strachan, Judith A, Humphries, Adam, Fraser, Callum G, Mowat, Craig

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Unusual presentation of Lynch Syndrome mā Yu, Veronica PCC, Novelli, Marco, Payne, Stewart J, Fisher, Sam, Barnetson, Rebecca A, Frayling, Ian M, Barrett, Ann, Goudie, David, Ardern-Jones, Audrey, Eeles, Ros, Shanley, Susan

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CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy mā Phillips, Hilary A., Favre, Isabelle, Kirkpatrick, Martin, Zuberi, Sameer M., Goudie, David, Heron, Sarah E., Scheffer, Ingrid E., Sutherland, Grant R., Berkovic, Samuel F., Bertrand, Daniel, Mulley, John C.

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Multiple Self-Healing Squamous Epithelioma (MSSE): rare variants in an adjacent region of chromosome 9q22.3 to known TGFBR1 mutations suggest a digenic or multilocus etiology mā Kang, Hio Chung, Quigley, David A., Kim, Il-Jin, Wakabayashi, Yuichi, Ferguson-Smith, Malcolm A, D’Alessandro, Mariella, Lane, E Birgitte, Akhurst, Rosemary J., Goudie, David R, Balmain, Allan

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Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies mā Gerrish, Amy, Bowns, Benjamin, Mashayamombe-Wolfgarten, Chipo, Young, Elizabeth, Court, Samantha, Bott, Joshua, McCalla, Maureen, Ramsden, Simon, Parks, Michael, Goudie, David, Carless, Sue, Clokie, Samuel, Cole, Trevor, Allen, Stephanie

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Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly mā Pengelly, Reuben J, Greville-Heygate, Stephanie, Schmidt, Susanne, Seaby, Eleanor G, Jabalameli, M Reza, Mehta, Sarju G, Parker, Michael J, Goudie, David, Fagotto-Kaufmann, Christine, Mercer, Catherine, Debant, Anne, Ennis, Sarah, Baralle, Diana

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SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect mā McNeill, Alisdair, Iovino, Emanuela, Mansard, Luke, Vache, Christel, Baux, David, Bedoukian, Emma, Cox, Helen, Dean, John, Goudie, David, Kumar, Ajith, Newbury-Ecob, Ruth, Fallerini, Chiara, Renieri, Alessandra, Lopergolo, Diego, Mari, Francesca, Blanchet, Catherine, Willems, Marjolaine, Roux, Anne-Francoise, Pippucci, Tommaso, Delpire, Eric

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Mutations in the DNA methyltransferase gene, DNMT3A, cause an overgrowth syndrome with intellectual disability mā Tatton-Brown, Katrina, Seal, Sheila, Ruark, Elise, Harmer, Jenny, Ramsay, Emma, del Vecchio Duarte, Silvana, Zachariou, Anna, Hanks, Sandra, O’Brien, Eleanor, Aksglaede, Lise, Baralle, Diana, Dabir, Tabib, Gener, Blanca, Goudie, David, Homfray, Tessa, Kumar, Ajith, Pilz, Daniela T, Selicorni, Angelo, Temple, I Karen, Van Maldergem, Lionel, Yachelevich, Naomi, van Montfort, Robert, Rahman, Nazneen

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Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma mā Pohler, Elizabeth, Mamai, Ons, Hirst, Jennifer, Zamiri, Mozheh, Horn, Helen, Nomura, Toshifumi, Irvine, Alan D., Moran, Benvon E., Wilson, Neil J., Smith, Frances J. D., Goh, Christabelle S. M, Sandilands, Aileen, Cole, Christian, Barton, Geoffrey J., Evans, Alan T., Shimizu, Hiroshi, Akiyama, Masashi, Suehiro, Akihiro, Konohana, Izumi, Shboul, Mohammad, Teissier, Sebastien, Boussofara, Lobna, Denguezli, Mohamed, Saad, Ali, Gribaa, Moez, Dopping-Hepenstal, Patricia J., McGrath, John A, Brown, Sara J., Goudie, David R., Reversade, Bruno, Munro, Colin S., McLean, W. H. Irwin

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The phenotypic spectrum of SCN8A encephalopathy mā Larsen, Jan, Carvill, Gemma L., Gardella, Elena, Kluger, Gerhard, Schmiedel, Gudrun, Barisic, Nina, Depienne, Christel, Brilstra, Eva, Mang, Yuan, Nielsen, Jens Erik Klint, Kirkpatrick, Martin, Goudie, David, Goldman, Rebecca, Jähn, Johanna A., Jepsen, Birgit, Gill, Deepak, Döcker, Miriam, Biskup, Saskia, McMahon, Jacinta M., Koeleman, Bobby, Harris, Mandy, Braun, Kees, de Kovel, Carolien G.F., Marini, Carla, Specchio, Nicola, Djémié, Tania, Weckhuysen, Sarah, Tommerup, Niels, Troncoso, Monica, Troncoso, Ledia, Bevot, Andrea, Wolff, Markus, Hjalgrim, Helle, Guerrini, Renzo, Scheffer, Ingrid E., Mefford, Heather C., Møller, Rikke S.

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Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD mā Andrews, Katrina A, Ascher, David B, Pires, Douglas Eduardo Valente, Barnes, Daniel R, Vialard, Lindsey, Casey, Ruth T, Bradshaw, Nicola, Adlard, Julian, Aylwin, Simon, Brennan, Paul, Brewer, Carole, Cole, Trevor, Cook, Jackie A, Davidson, Rosemarie, Donaldson, Alan, Fryer, Alan, Greenhalgh, Lynn, hodgson, Shirley V, Irving, Richard, Lalloo, Fiona, McConachie, Michelle, McConnell, Vivienne P M, Morrison, Patrick J, Murday, Victoria, Park, Soo-Mi, Simpson, Helen L, Snape, Katie, Stewart, Susan, Tomkins, Susan E, Wallis, Yvonne, Izatt, Louise, Goudie, David, Lindsay, Robert S, Perry, Colin G, Woodward, Emma R, Antoniou, Antonis C, Maher, Eamonn R

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Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders mā Barbosa, Sónia, Greville-Heygate, Stephanie, Bonnet, Maxime, Godwin, Annie, Fagotto-Kaufmann, Christine, Kajava, Andrey V., Laouteouet, Damien, Mawby, Rebecca, Wai, Htoo Aung, Dingemans, Alexander J.M., Hehir-Kwa, Jayne, Willems, Marjorlaine, Capri, Yline, Mehta, Sarju G., Cox, Helen, Goudie, David, Vansenne, Fleur, Turnpenny, Peter, Vincent, Marie, Cogné, Benjamin, Lesca, Gaëtan, Hertecant, Jozef, Rodriguez, Diana, Keren, Boris, Burglen, Lydie, Gérard, Marion, Putoux, Audrey, Cantagrel, Vincent, Siquier-Pernet, Karine, Rio, Marlene, Banka, Siddharth, Sarkar, Ajoy, Steeves, Marcie, Parker, Michael, Clement, Emma, Moutton, Sébastien, Tran Mau-Them, Frédéric, Piton, Amélie, de Vries, Bert B.A., Guille, Matthew, Debant, Anne, Schmidt, Susanne, Baralle, Diana

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The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants mā Tatton-Brown, Katrina, Zachariou, Anna, Loveday, Chey, Renwick, Anthony, Mahamdallie, Shazia, Aksglaede, Lise, Baralle, Diana, Barge-Schaapveld, Daniela, Blyth, Moira, Bouma, Mieke, Breckpot, Jeroen, Crabb, Beau, Dabir, Tabib, Cormier-Daire, Valerie, Fauth, Christine, Fisher, Richard, Gener, Blanca, Goudie, David, Homfray, Tessa, Hunter, Matthew, Jorgensen, Agnete, Kant, Sarina G., Kirally-Borri, Cathy, Koolen, David, Kumar, Ajith, Labilloy, Anatalia, Lees, Melissa, Marcelis, Carlo, Mercer, Catherine, Mignot, Cyril, Miller, Kathryn, Neas, Katherine, Newbury-Ecob, Ruth, Pilz, Daniela T., Posmyk, Renata, Prada, Carlos, Ramsey, Keri, Randolph, Linda M., Selicorni, Angelo, Shears, Deborah, Suri, Mohnish, Temple, I. Karen, Turnpenny, Peter, Van Maldergem, Lionel, Varghese, Vinod, Veenstra-Knol, Hermine E., Yachelevich, Naomi, Yates, Laura, Rahman, Nazneen

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KAT6A Syndrome: Genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants mā Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L., McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J., Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia A.L., Nibbeling, Esther, Dingemans, Alexander J.M., Douine, Emilie D., Nelson, Stanley F., Arboleda, Valerie A., Newbury-Ecob, Ruth

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Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome mā Ansari, Morad, Rainger, Jacqueline, Hanson, Isabel M., Williamson, Kathleen A., Sharkey, Freddie, Harewood, Louise, Sandilands, Angela, Clayton-Smith, Jill, Dollfus, Helene, Bitoun, Pierre, Meire, Francoise, Fantes, Judy, Franco, Brunella, Lorenz, Birgit, Taylor, David S., Stewart, Fiona, Willoughby, Colin E., McEntagart, Meriel, Khaw, Peng Tee, Clericuzio, Carol, Van Maldergem, Lionel, Williams, Denise, Newbury-Ecob, Ruth, Traboulsi, Elias I., Silva, Eduardo D., Madlom, Mukhlis M., Goudie, David R., Fleck, Brian W., Wieczorek, Dagmar, Kohlhase, Juergen, McTrusty, Alice D., Gardiner, Carol, Yale, Christopher, Moore, Anthony T., Russell-Eggitt, Isabelle, Islam, Lily, Lees, Melissa, Beales, Philip L., Tuft, Stephen J., Solano, Juan B., Splitt, Miranda, Hertz, Jens Michael, Prescott, Trine E., Shears, Deborah J., Nischal, Ken K., Doco-Fenzy, Martine, Prieur, Fabienne, Temple, I. Karen, Lachlan, Katherine L., Damante, Giuseppe, Morrison, Danny A., van Heyningen, Veronica, FitzPatrick, David R.

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