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Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 319, doi. 10.1002/ajmg.a.38564
By:
- Bateman, Mark S.;
- Collinson, Morag N.;
- Bunyan, David J.;
- Collins, Amanda L.;
- Duncan, Philippa;
- Firth, Rachel;
- Harrison, Victoria;
- Homfray, Tessa;
- Huang, Shuwen;
- Kirk, Beth;
- Lachlan, Katherine L.;
- Maloney, Viv K.;
- Barber, John C. K.
Publication type:
Article
8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 487, doi. 10.1002/ajmg.a.35767
By:
- Barber, John C.K.;
- Rosenfeld, Jill A.;
- Foulds, Nicola;
- Laird, Sophie;
- Bateman, Mark S.;
- Thomas, N. Simon;
- Baker, Samantha;
- Maloney, Viv K.;
- Anilkumar, Arayamparambil;
- Smith, Wendy E.;
- Banks, Valerie;
- Ellingwood, Sara;
- Kharbutli, Yara;
- Mehta, Lakshmi;
- Eddleman, Keith A.;
- Marble, Michael;
- Zambrano, Regina;
- Crolla, John A.;
- Lamb, Allen N.
Publication type:
Article
Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4).
Published in:
Human Genetics, 2009, v. 125, n. 2, p. 181, doi. 10.1007/s00439-008-0611-8
By:
- Thomas, N. Simon;
- Maloney, Viv;
- Bryant, Victoria;
- Shuwen Huang;
- Brewer, Carole;
- Lachlan, Katherine;
- Jacobs, Patricia A.
Publication type:
Article
16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 2, p. 182, doi. 10.1038/ejhg.2012.144
By:
- Barber, John C K;
- Hall, Victoria;
- Maloney, Viv K;
- Huang, Shuwen;
- Roberts, Angharad M;
- Brady, Angela F;
- Foulds, Nicki;
- Bewes, Beverley;
- Volleth, Marianne;
- Liehr, Thomas;
- Mehnert, Karl;
- Bateman, Mark;
- White, Helen
Publication type:
Article
Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 1, p. 37, doi. 10.1038/ejhg.2008.133
By:
- Glancy, Mary;
- Barnicoat, Angela;
- Vijeratnam, Rajan;
- de Souza, Sharon;
- Gilmore, Joanne;
- Huang, Shuwen;
- Maloney, Viv K;
- Thomas, N Simon;
- Bunyan, David J.;
- Jackson, Ann;
- Barber, John C. K.
Publication type:
Article
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 1, p. 18, doi. 10.1038/sj.ejhg.5201932
By:
- Barber, John C. K.;
- Maloney, Viv K.;
- Shuwen Huang;
- Bunyan, David J.;
- Cresswell, Lara;
- Kinning, Esther;
- Benson, Anna;
- Cheetham, Tim;
- Wyllie, Jonathan;
- Lynch, Sally Ann;
- Zwolinski, Simon;
- Prescott, Laura;
- Crow, Yanick;
- Morgan, Rob;
- Hobson, Emma
Publication type:
Article
Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype.
Published in:
European Journal of Human Genetics, 2006, v. 14, n. 6, p. 739, doi. 10.1038/sj.ejhg.5201605
By:
- Barber, John C. K.;
- Maloney, Viv K.;
- Bewes, Beverley;
- Wakeling, Emma
Publication type:
Article
Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1131, doi. 10.1038/sj.ejhg.5201475
By:
- Barber, John C. K.;
- Maloney, Viv;
- Hollox, Edward J.;
- Stuke-Sontheimer, Annegret;
- du Bois, Gabi;
- Daumiller, Eva;
- Klein-Vogler, Ute;
- Dufke, Andreas;
- Armour, John A. L.;
- Liehr, Thomas
Publication type:
Article
Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 6, p. 716, doi. 10.1038/sj.ejhg.5201377
By:
- Turner, Claire;
- Lachlan, Katherine;
- Amerasinghe, Nishani;
- Hodgkins, Peter;
- Maloney, Viv;
- Barber, John;
- Temple, I Karen
Publication type:
Article
8p23.1 duplication syndrome differentiated fromcopy number variation of the defensin cluster atprenatal diagnosis in four new families.
Published in:
Molecular Cytogenetics (17558166), 2010, v. 3, p. 3, doi. 10.1186/1755-8166-3-3
By:
- Barber, John C. K.;
- Bunyan, Dave;
- Curtis, Merryl;
- Robinson, Denise;
- Morlot, Susanne;
- Dermitzel, Anette;
- Liehr, Thomas;
- Alves, Claudia;
- Trindade, Joana;
- Paramos, Ana I.;
- Cooper, Clare;
- Ocraft, Kevin;
- Taylor, Emma-Jane;
- Maloney, Viv K.
Publication type:
Article
Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2.
Published in:
BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-42
By:
- Jones, Matthew L.;
- Murden, Sherina L.;
- Brooks, Claire;
- Maloney, Viv;
- Manning, Richard A.;
- Gilmour, Kimberly C.;
- Bharadwaj, Vandana;
- de la Fuente, Josu;
- Chakravorty, Subarna;
- Mumford, Andrew D.
Publication type:
Article

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