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Organization of the human HLA-class-II region.
Published in:
International Journal of Cancer, 1990, v. 47, p. 18, doi. 10.1002/ijc.2910470706
By:
- Hanson, Isabel;
- Ragoussis, Jiannis;
- Trowsdale, John
Publication type:
Article
PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.
Published in:
Nature Genetics, 2001, v. 28, n. 3, p. 214, doi. 10.1038/90042
By:
- Sisodiya, Sanjay M.;
- Free, Samantha L.;
- Williamson, Kathleen A.;
- Mitchell, Tejal N.;
- Willis, Catherine;
- Stevens, John M.;
- Kendall, Brian E.;
- Shorvon, Simon D.;
- Hanson, Isabel M.;
- Moore, Anthony T.;
- van Heyningen, Veronica
Publication type:
Article
Aniridia.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1011, doi. 10.1038/ejhg.2012.100
By:
- Hingorani, Melanie;
- Hanson, Isabel;
- van Heyningen, Veronica
Publication type:
Article
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 8, p. 898, doi. 10.1038/sj.ejhg.5201826
By:
- Henderson, R. Alex;
- Williamson, Kathy;
- Cumming, Sally;
- Clarke, Michael P.;
- Lynch, Sally Ann;
- Hanson, Isabel M.;
- FitzPatrick, David R.;
- Sisodiya, Sanjay;
- van Heyningen, Veronica
Publication type:
Article
Training needs for staff providing remote services in general practice: a mixed-methods study.
Published in:
British Journal of General Practice, 2024, v. 74, n. 738, p. e17, doi. 10.3399/bjgp.2023.0251
By:
- Greenhalgh, Trisha;
- Payne, Rebecca;
- Hemmings, Nina;
- Leach, Helen;
- Hanson, Isabel;
- Khan, Anwar;
- Miller, Lisa;
- Ladds, Emma;
- Clarke, Aileen;
- Shaw, Sara E;
- Dakin, Francesca;
- Wieringa, Sietse;
- Rybczynska-Bunt, Sarah;
- Faulkner, Stuart D;
- Byng, Richard;
- Kalin, Asli;
- Moore, Lucy;
- Wherton, Joseph;
- Husain, Laiba;
- Rosen, Rebecca
Publication type:
Article
A screen for proteins that interact with PAX6: C-terminal mutations disrupt interaction with HOMER3, DNCL1 and TRIM11.
Published in:
BMC Genetics, 2005, v. 6, p. 43, doi. 10.1186/1471-2156-6-43
By:
- Cooper, Simon T;
- Hanson, Isabel M
Publication type:
Article
Polymicrogyria and absence of pineal gland due to PAX6 mutation.
Published in:
Annals of Neurology, 2003, v. 53, n. 5, p. 658
By:
- Tejal N. Mitchell;
- Samantha L. Free;
- Kathleen A. Williamson;
- John M. Stevens;
- Amanda J. Churchill;
- Isabel M. Hanson;
- Simon D. Shorvon;
- Anthony T. Moore;
- Veronica van Heyningen
Publication type:
Article
Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome.
Published in:
PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0153757
By:
- 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
Publication type:
Article
The imaging and cognition genetics conference 2011, ICG 2011: a meeting of minds.
Published in:
2012
By:
- Le Hellard, Stéphanie;
- Hanson, Isabel;
- Williams, Robert W.;
- Heck, Detlef H.;
- Siegel, Ruth
Publication type:
Proceeding
Let's talk about sex: Mechanisms of neural sexual differentiation in Bilateria.
Published in:
WIREs: Mechanisms of Disease, 2024, v. 16, n. 2, p. 1, doi. 10.1002/wsbm.1636
By:
- Roggenbuck, Emma C.;
- Hall, Elijah A.;
- Hanson, Isabel B.;
- Roby, Alyssa A.;
- Zhang, Katherine K.;
- Alkatib, Kyle A.;
- Carter, Joseph A.;
- Clewner, Jarred E.;
- Gelfius, Anna L.;
- Gong, Shiyuan;
- Gordon, Finley R.;
- Iseler, Jolene N.;
- Kotapati, Samhita;
- Li, Marilyn;
- Maysun, Areeba;
- McCormick, Elise O.;
- Rastogi, Geetanjali;
- Sengupta, Srijani;
- Uzoma, Chantal U.;
- Wolkov, Madison A.
Publication type:
Article
Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene.
Published in:
Human Mutation, 2002, v. 20, n. 4, p. 322, doi. 10.1002/humu.9066
By:
- Sale, Michèle M.;
- Craig, Jamie E.;
- Charlesworth, Jacinta C.;
- FitzGerald, Liesel M.;
- Hanson, Isabel M.;
- Dickinson, Joanne L.;
- Matthews, Sarah J.;
- Heyningen, Veronica van;
- Fingert, John H.;
- Mackey, David A.
Publication type:
Article
A new set of primers for mutation analysis of the human PAX6 gene.
Published in:
Human Mutation, 1998, v. 12, n. 2, p. 128, doi. 10.1002/(SICI)1098-1004(1998)12:2<128::AID-HUMU8>3.0.CO;2-N
By:
- Love, James;
- Axton, Richard;
- Churchill, Amanda;
- van Heyningen, Veronica;
- Hanson, Isabel
Publication type:
Article
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 2, p. 165, doi. 10.1093/hmg/8.2.165
By:
- Hanson, Isabel;
- Churchill, Amanda;
- Love, James;
- Axton, Richard;
- Moore, Tony;
- Clarke, Michael;
- Meire, Francoise;
- van Heyningen, Veronica
Publication type:
Article
EYA4, a novel vertebrate gene related to Drosophila eyes absent.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 1, p. 11, doi. 10.1093/hmg/8.1.11
By:
- Borsani, Giuseppe;
- DeGrandi, Alessandro;
- Ballabio, Andrea;
- Bulfone, Alessandro;
- Bernard, Loris;
- Banfi, Sandro;
- Gattuso, Claudio;
- Mariani, Margherita;
- Dixon, Michael;
- Donnai, Dian;
- Metcalfe, Kay;
- Winter, Robin;
- Robertson, Marie;
- Axton, Richard;
- Brown, Alison;
- van Heyningen, Veronica;
- Hanson, Isabel
Publication type:
Article
Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype.
Published in:
Human Molecular Genetics, 1995, v. 4, n. 3, p. 415
By:
- Fantes, Judy;
- Redeker, Bert;
- Breen, Matthew;
- Boyle, Shelagh;
- Brown, John;
- Fletcher, Judy;
- Jones, Sinead;
- Bickmore, Wendy;
- Fukushima, Yoshimitsu;
- Mannens, Marcel;
- Danes, Sarah;
- van Heyningen, Veronica;
- Hanson, Isabel
Publication type:
Article

Found: 15