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KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
Published in:
EMBO Molecular Medicine, 2017, v. 9, n. 10, p. 1379, doi. 10.15252/emmm.201607376
By:
- Xu, Cheng;
- Messina, Andrea;
- Somm, Emmanuel;
- Miraoui, Hichem;
- Kinnunen, Tarja;
- Acierno, James;
- Niederländer, Nicolas J;
- Bouilly, Justine;
- Dwyer, Andrew A;
- Sidis, Yisrael;
- Cassatella, Daniele;
- Sykiotis, Gerasimos P;
- Quinton, Richard;
- De Geyter, Christian;
- Dirlewanger, Mirjam;
- Schwitzgebel, Valérie;
- Cole, Trevor R;
- Toogood, Andrew A;
- Kirk, Jeremy MW;
- Plummer, Lacey
Publication type:
Article
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
Published in:
Nature Genetics, 2005, v. 37, n. 3, p. 221, doi. 10.1038/ng1517
By:
- Aligianis, Irene A;
- Johnson, Colin A;
- Gissen, Paul;
- Chen, Dongrong;
- Hampshire, Daniel;
- Hoffmann, Katrin;
- Maina, Esther N;
- Morgan, Neil V;
- Tee, Louise;
- Morton, Jenny;
- Ainsworth, John R;
- Horn, Denise;
- Rosser, Elisabeth;
- Cole, Trevor R. P.;
- Stolte-Dijkstra, Irene;
- Fieggen, Karen;
- Clayton-Smith, Jill;
- Mégarbané, André;
- Shield, Julian P;
- Newbury-Ecob, Ruth
Publication type:
Article
A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.
Published in:
2013
By:
- Rattenberry, Eleanor;
- Vialard, Lindsey;
- Yeung, Anna;
- Bair, Hayley;
- McKay, Kirsten;
- Jafri, Mariam;
- Canham, Natalie;
- Cole, Trevor R;
- Denes, Judit;
- Hodgson, Shirley V;
- Irving, Richard;
- Izatt, Louise;
- Korbonits, Márta;
- Kumar, Ajith V;
- Lalloo, Fiona;
- Morrison, Patrick J;
- Woodward, Emma R;
- Macdonald, Fiona;
- Wallis, Yvonne;
- Maher, Eamonn R
Publication type:
journal article
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
Published in:
2010
By:
- Parajes, Silvia;
- Loidi, Lourdes;
- Reisch, Nicole;
- Dhir, Vivek;
- Rose, Ian T;
- Hampel, Rainer;
- Quinkler, Marcus;
- Conway, Gerard S;
- Castro-Feijóo, Lidia;
- Araujo-Vilar, David;
- Pombo, Manuel;
- Dominguez, Fernando;
- Williams, Emma L;
- Cole, Trevor R;
- Kirk, Jeremy M;
- Kaminsky, Elke;
- Rumsby, Gill;
- Arlt, Wiebke;
- Krone, Nils
Publication type:
journal article
PMS2 Mutations in Childhood Cancer.
Published in:
JNCI: Journal of the National Cancer Institute, 2006, v. 98, n. 5, p. 358, doi. 10.1093/jnci/djj073
By:
- De Vos, Michel;
- Hayward, Bruce E.;
- Chariton, Ruth;
- Taylor, Graham R.;
- Glaser, Adam W.;
- Picton, Susan;
- Cole, Trevor R.;
- Maher, Eamonn R.;
- McKeown, Carole M. E.;
- Mann, Jill R.;
- Yates, John R.;
- Baralle, Diana;
- Rankin, Julia;
- Bonthron, David T.;
- Sheridan, Eamonn
Publication type:
Article
Evaluation of NSD2 and NSD3 in overgrowth syndromes.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 2, p. 150, doi. 10.1038/sj.ejhg.5201298
By:
- Douglas, Jenny;
- Coleman, Kim;
- Tatton-Brown, Katrina;
- Hughes, Helen E;
- Temple, I Karen;
- Cole, Trevor R. P;
- Rahman, Nazneen
Publication type:
Article
Hypothalamic Reproductive Endocrine Pulse Generator Activity Independent of Neurokinin B and Dynorphin Signaling.
Published in:
2019
By:
- Lippincott, Margaret F;
- León, Silvia;
- Chan, Yee-Ming;
- Fergani, Chrysanthi;
- Talbi, Rajae;
- Farooqi, I Sadaf;
- Jones, Christopher M;
- Arlt, Wiebke;
- Stewart, Susan E;
- Cole, Trevor R;
- Terasawa, Ei;
- Hall, Janet E;
- Shaw, Natalie D;
- Navarro, Victor M;
- Seminara, Stephanie Beth
Publication type:
journal article
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.
Published in:
Human Mutation, 2010, v. 31, n. 1, p. 41, doi. 10.1002/humu.21136
By:
- Ricketts, Christopher J.;
- Forman, Julia R.;
- Rattenberry, Eleanor;
- Bradshaw, Nicola;
- Lalloo, Fiona;
- Izatt, Louise;
- Cole, Trevor R.;
- Armstrong, Ruth;
- Kumar, V.K. Ajith;
- Morrison, Patrick J.;
- Atkinson, A. Brew;
- Douglas, Fiona;
- Ball, Steve G.;
- Cook, Jackie;
- Srirangalingam, Umasuthan;
- Killick, Pip;
- Kirby, Gail;
- Aylwin, Simon;
- Woodward, Emma R.;
- Evans, D. Gareth R.
Publication type:
Article
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.
Published in:
Clinical Endocrinology, 2013, v. 78, n. 6, p. 898, doi. 10.1111/cen.12074
By:
- Jafri, Mariam;
- Whitworth, James;
- Rattenberry, Eleanor;
- Vialard, Lindsey;
- Kilby, Gail;
- Kumar, Ajith V.;
- Izatt, Louise;
- Lalloo, Fiona;
- Brennan, Paul;
- Cook, Jackie;
- Morrison, Patrick J.;
- Canham, Natalie;
- Armstrong, Ruth;
- Brewer, Carole;
- Tomkins, Susan;
- Donaldson, Alan;
- Barwell, Julian;
- Cole, Trevor R.;
- Atkinson, A. Brew;
- Aylwin, Simon
Publication type:
Article
Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 4, p. 607, doi. 10.1093/hmg/8.4.607
By:
- Richards, Frances M.;
- McKee, Shane A.;
- Rajpar, M. Helen;
- Cole, Trevor R. P.;
- Evans, D. Gareth R.;
- Jankowski, Janusz A.;
- McKeown, Carole;
- Sanders, D. Scott A.;
- Maher, Eamonn R.
Publication type:
Article

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