Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability
Jongmans, Marjolijn C.J., Hoefsloot, Lies H., van der Donk, Kim P., Admiraal, Ronald J., Magee, Alex, van de Laar, Ingrid, Hendriks, Yvonne, Verheij, Joke B.G.M., Walpole, Ian, Brunner, Han G., van Ravenswaaij, Conny M.A.
Published in American journal of medical genetics. Part A (01.01.2008)
Published in American journal of medical genetics. Part A (01.01.2008)
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Journal Article
Outcomes of a cystic fibrosis carrier testing clinic for couples
O'Leary, Peter C, Maxwell, Susannah J, Youngs, Leanne M, Brameld, Kate J, Walpole, Ian R
Published in Medical journal of Australia (15.02.2010)
Published in Medical journal of Australia (15.02.2010)
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Journal Article
Human gene patents: the possible impacts on genetic services healthcare
Walpole, Ian R, Dawkins, Hugh J S, Sinden, Peter D, O'Leary, Peter C
Published in Medical journal of Australia (18.08.2003)
Published in Medical journal of Australia (18.08.2003)
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Journal Article
Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up
Mathers, John C, Elliott, Faye, Macrae, Finlay, Mecklin, Jukka-Pekka, Möslein, Gabriela, McRonald, Fiona E, Bertario, Lucio, Evans, D Gareth, Gerdes, Anne-Marie, Ho, Judy W C, Lindblom, Annika, Morrison, Patrick J, Rashbass, Jem, Ramesar, Raj S, Seppälä, Toni T, Thomas, Huw J W, Sheth, Harsh J, Pylvänäinen, Kirsi, Reed, Lynn, Borthwick, Gillian M, Bishop, D Timothy, Burn, John
Published in Cancer prevention research (Philadelphia, Pa.) (01.09.2022)
Published in Cancer prevention research (Philadelphia, Pa.) (01.09.2022)
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Journal Article
Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3′ end of the FBN1 gene
Goldblatt, Jack, Hyatt, Jill, Edwards, Caitlin, Walpole, Ian
Published in American journal of medical genetics. Part A (01.04.2011)
Published in American journal of medical genetics. Part A (01.04.2011)
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Journal Article
Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter ? A further locus for Cornelia de Lange syndrome
Baynam, Gareth, Goldblatt, Jack, Walpole, Ian
Published in American journal of medical genetics. Part A (15.06.2008)
Published in American journal of medical genetics. Part A (15.06.2008)
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Journal Article
Carbimazole embryopathy: An emerging phenotype
Foulds, Nicola, Walpole, Ian, Elmslie, Frances, Mansour, Sahar
Published in American journal of medical genetics. Part A (15.01.2005)
Published in American journal of medical genetics. Part A (15.01.2005)
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Journal Article
Features of Colorectal Cancers with High-Level Microsatellite Instability Occurring in Familial and Sporadic Settings : Parallel Pathways of Tumorigenesis
Young, Joanne, Simms, Lisa A, Biden, Kelli G, Wynter, Coral, Whitehall, Vicki, Karamatic, Rozemary, George, Jill, Goldblatt, Jack, Walpole, Ian, Robin, Sally-Anne, Borten, Michael M, Stitz, Russell, Searle, Jeffrey, McKeone, Diane, Fraser, Leigh, Purdie, David R, Podger, Kay, Price, Rachael, Buttenshaw, Ron, Walsh, Michael D, Barker, Melissa, Leggett, Barbara A, Jass, Jeremy R
Published in The American journal of pathology (01.12.2001)
Published in The American journal of pathology (01.12.2001)
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Journal Article
Attitudes toward Prophylactic Oophorectomy and Screening Utilization in Women at Increased Risk of Developing Hereditary Breast/Ovarian Cancer
Meiser, Bettina, Butow, Phyllis, Barratt, Alexandra, Friedlander, Michael, Gattas, Michael, Kirk, Judy, Suthers, Graeme, Walpole, Ian, Tucker, Katherine
Published in Gynecologic oncology (01.10.1999)
Published in Gynecologic oncology (01.10.1999)
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Journal Article
Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes
Toutain, Annick, Dessay, Benoît, Ronce, Nathalie, Ferrante, Maria-Immacolata, Tranchemontagne, Julie, Newbury-Ecob, Ruth, Wallgren-Pettersson, Carina, Burn, John, Kaplan, Josseline, Rossi, Annick, Russo, Silvia, Walpole, Ian, Hartsfield, James K, Oyen, Nina, Nemeth, Andrea, Bitoun, Pierre, Trump, Dorothy, Moraine, Claude, Franco, Brunella
Published in European journal of human genetics : EJHG (01.09.2002)
Published in European journal of human genetics : EJHG (01.09.2002)
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Journal Article
Genetic testing for Alzheimer's disease
Panegyres, P K, Goldblatt, J, Walpole, I, Connor, C, Liebeck, T, Harrop, K
Published in Medical journal of Australia (03.04.2000)
Published in Medical journal of Australia (03.04.2000)
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Journal Article
Features of Colorectal Cancers with High-Level Microsatellite Instability Occurring in Familial and Sporadic Settings
Young, Joanne, Simms, Lisa A., Biden, Kelli G., Wynter, Coral, Whitehall, Vicki, Karamatic, Rozemary, George, Jill, Goldblatt, Jack, Walpole, Ian, Robin, Sally-Anne, Borten, Michael M., Stitz, Russell, Searle, Jeffrey, McKeone, Diane, Fraser, Leigh, Purdie, David R., Podger, Kay, Price, Rachael, Buttenshaw, Ron, Walsh, Michael D., Barker, Melissa, Leggett, Barbara A., Jass, Jeremy R.
Published in The American journal of pathology (01.12.2001)
Published in The American journal of pathology (01.12.2001)
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Journal Article
Topical tretinoin and fetal malformations
Colley, S M, Walpole, I, Fabian, V A, Kakulas, B A
Published in Medical journal of Australia (04.05.1998)
Published in Medical journal of Australia (04.05.1998)
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Journal Article
Evaluation of a project to enhance knowledge of hereditary diseases and management
Walpole, I R, Watson, C, Moore, D, Goldblatt, J, Bower, C
Published in Journal of medical genetics (01.10.1997)
Published in Journal of medical genetics (01.10.1997)
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Journal Article