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EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-23
By:
- Eggens, Veerle R. C.;
- Barth, Peter G.;
- Niermeijer, Jikke-Mien F.;
- Berg, Jonathan N.;
- Darin, Niklas;
- Dixit, Abhijit;
- Fluss, Joel;
- Foulds, Nicola;
- Fowler, Darren;
- Hortobágyi, Tibor;
- Jacques, Thomas;
- King, Mary D.;
- Makrythanasis, Periklis;
- Máté, Adrienn;
- Nicoll, James A. R.;
- O'Rourke, Declan;
- Price, Sue;
- Williams, Andrew N.;
- Wilson, Louise;
- Suri, Mohnish
Publication type:
Article
Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 43, doi. 10.1002/ajmg.a.60678
By:
- Michael Yates, Thabo;
- Ng, Oon‐Hui;
- Offiah, Amaka C.;
- Willoughby, Josh;
- Berg, Jonathan N.;
- Johnson, Diana S.
Publication type:
Article
Germline FH mutations presenting with pheochromocytoma.
Published in:
2014
By:
- Clark, Graeme R;
- Sciacovelli, Marco;
- Gaude, Edoardo;
- Walsh, Diana M;
- Kirby, Gail;
- Simpson, Michael A;
- Trembath, Richard C;
- Berg, Jonathan N;
- Woodward, Emma R;
- Kinning, Esther;
- Morrison, Patrick J;
- Frezza, Christian;
- Maher, Eamonn R
Publication type:
journal article
Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect.
Published in:
Human Genetics, 2000, v. 107, n. 1, p. 40, doi. 10.1007/s004390050008
By:
- Gallione, Carol J.;
- Scheessele, Erin A.;
- Reinhardt, Diana;
- Duits, Ashley J.;
- Berg, Jonathan N.;
- Westermann, Cornelius J.J.;
- Marchuk, Douglas A.
Publication type:
Article
Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1330, doi. 10.1038/ejhg.2014.20
By:
- Ibrahim, Abdulla;
- Barnes, Daniel R;
- Dunlop, Jacqueline;
- Barrowdale, Daniel;
- Antoniou, Antonis C;
- Berg, Jonathan N
Publication type:
Article
FGFR2 protein expression in breast cancer: nuclear localisation and correlation with patient genotype.
Published in:
BMC Research Notes, 2011, v. 4, n. 1, p. 72, doi. 10.1186/1756-0500-4-72
By:
- Martin, Amy J.;
- Grant, Andrew;
- Ashfield, Alison M.;
- Palmer, Colin N.;
- Baker, Lee;
- Quinlan, Philip R.;
- Purdie, Colin A.;
- Thompson, Alastair M.;
- Jordan, Lee B.;
- Berg, Jonathan N
Publication type:
Article
Lifestyle Changes in Women at Genetic Risk of Breast Cancer: an Observational Study.
Published in:
International Journal of Behavioral Medicine, 2013, v. 20, n. 4, p. 514, doi. 10.1007/s12529-012-9263-0
By:
- McLeish, Lorna;
- Reis, Marta M.;
- Stewart, Clare;
- Goudie, David R.;
- Berg, Jonathan N.;
- Harvie, Michelle;
- Hanning, Kirstie A.;
- Vysny, Helen;
- Steel, C. Michael
Publication type:
Article
Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.
Published in:
Human Mutation, 1998, v. 11, n. 4, p. 286, doi. 10.1002/(SICI)1098-1004(1998)11:4<286::AID-HUMU6>3.0.CO;2-B
By:
- Gallione, Carol J.;
- Klaus, Daniel J.;
- Yeh, Eric Y.;
- Stenzel, Timothy T.;
- Xue, Yan;
- Anthony, Kara B.;
- McAllister, Kimberly A.;
- Baldwin, Melanie A.;
- Berg, Jonathan N.;
- Lux, Andreas;
- Smith, Joshua D.;
- Vary, Calvin P. H.;
- Craigen, William J.;
- Westermann, CJJ;
- Warner, Mary L.;
- Miller, York E.;
- Jackson, C. Eugene;
- Guttmacher, Alan E.;
- Marchuk, Douglas A.
Publication type:
Article
Allelic and locus heterogeneity in inherited venous malformations.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 7, p. 1279, doi. 10.1093/hmg/8.7.1279
By:
- Calvert, Jennifer T.;
- Riney, Travis J.;
- Kontos, Christopher D.;
- Cha, Eugene H.;
- Prieto, Victor G.;
- Shea, Christopher R.;
- Berg, Jonathan N.;
- Nevin, Norman C.;
- Simpson, Sheila A.;
- Pasyk, Krystyna A.;
- Speer, Marcy C.;
- Peters, Kevin G.;
- Marchuk, Douglas A.
Publication type:
Article
Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function.
Published in:
Human Molecular Genetics, 1995, v. 4, n. 10, p. 1983
By:
- McAllister, Kimberly A.;
- Baldwin, Melanie A.;
- Thukkani, Arun K.;
- Gallione, Carol J.;
- Berg, Jonathan N.;
- Porteous, Mary E.;
- Guttmacher, Allan E.;
- Marchuk, Douglas A.
Publication type:
Article

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