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Germline RET codon 918 mutation in apparently isolated intestinal ganglioneuromatosis.
Published in:
1998
By:
- ENG, CHARIS;
- MARSH, DEBBIE J.;
- ROBINSON, BRUCE G.;
- CHOW, C. W.;
- PATTON, MICHAEL A.;
- SOUTHEY, MELISSA C.;
- VENTER, DEON J.;
- PONDER, BRUCE A. J.;
- MILLA, PETER J.;
- SMITH, VIRPI V.
Publication type:
journal article
Four Cases of Mucosal Neuroma Syndrome: Multiple Endocrine Neoplasm 2B or Not 2B?
Published in:
Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 1, p. 17, doi. 10.1210/jcem.83.1.4504
By:
- GORDON, CATHERINE M.;
- MAJZOUB, JOSEPH A.;
- MARSH, DEBBIE J.;
- MULLIKEN, JOHN B.;
- PONDER, BRUCE A. J.;
- ROBINSON, BRUCE G.;
- ENG, CHARIS
Publication type:
Article
Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinoma.
Published in:
Clinical Endocrinology, 1996, v. 44, n. 3, p. 249, doi. 10.1046/j.1365-2265.1996.681503.x
By:
- Marsh, Debbie J.;
- Learoyd, Diana L.;
- Andrew, Scott D.;
- Krishnan, Lalitha;
- Pojer, Ruth;
- Richardson, Anne-Louise;
- Delbridge, Leigh;
- Eng, Charis;
- Robinson, Bruce G.
Publication type:
Article
The identification of false positive responses to the pentagastrin stimulation test in RET mutation negative members of MEN 2A families.
Published in:
Clinical Endocrinology, 1996, v. 44, n. 2, p. 213, doi. 10.1046/j.1365-2265.1996.505292.x
By:
- Marsh, Debbie J.;
- McDowall, Deborah;
- Hyland, Valentine J.;
- Andrew, Scott D.;
- Schnitzler, Margaret;
- Gaskin, Elizabeth L.;
- Nevell, David F.;
- Diamond, Terrence;
- Delbridge, Leigh;
- Clifton-Bligh, Phillip;
- Robinson, Bruce G.
Publication type:
Article
Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation.
Published in:
Oncogene, 1999, v. 18, n. 6, p. 1369, doi. 10.1038/sj.onc.1202418
By:
- Gimm, Oliver;
- Neuberg, Donna S;
- Marsh, Debbie J;
- Dahia, Patricia LM;
- Hoang-Vu, Cuong;
- Raue, Friedhelm;
- Hinze, Raoul;
- Dralle, Henning;
- Eng, Charis
Publication type:
Article
Germline mutations in PTEN are an infrequent cause of genetic predisposition to breast cancer.
Published in:
Oncogene, 1998, v. 17, n. 6, p. 727, doi. 10.1038/sj.onc.1201984
By:
- FitzGerald, Michael G;
- Marsh, Debbie J;
- Wahrer, Doke;
- Bell, Daphne;
- Caron, Stacey;
- Shannon, Kristen E;
- Ishioka, Chikashi;
- Isselbacher, Kurt J;
- Garber, Judy E;
- Eng, Charis;
- Haber, Daniel A
Publication type:
Article
A highly conserved processed PTEN pseudogene is located on chromosome band 9p21.
Published in:
Oncogene, 1998, v. 16, n. 18, p. 2403, doi. 10.1038/sj.onc.1201762
By:
- Dahia, Patricia LM;
- FitzGerald, Michael G;
- Zhang, Xue;
- Marsh, Debbie J;
- Zheng, Zimu;
- Pietsch, Torsten;
- von Deimling, Andreas;
- Haluska, Frank G;
- Haber, Daniel A;
- Eng, Charis
Publication type:
Article
Fine-structure deletion mapping of 10q22-24 identifies regions of loss of heterozygosity and suggests that sporadic follicular thyroid adenomas and follicular thyroid carcinomas develop along distinct neoplastic pathways.
Published in:
Genes, Chromosomes & Cancer, 1999, v. 26, n. 4, p. 322, doi. 10.1002/(SICI)1098-2264(199912)26:4<322::AID-GCC6>3.0.CO;2-#
By:
- Yeh, Jen Jen;
- Marsh, Debbie J.;
- Zedenius, Jan;
- Dwight, Trisha;
- Delbridge, Leigh;
- Robinson, Bruce G.;
- Eng, Charis
Publication type:
Article
Allelic imbalance, including deletion of PTEN/MMAC1, at the Cowden disease locus on 10q22-23, in hamartomas from patients with cowden syndrome and germline PTEN mutation.
Published in:
Genes, Chromosomes & Cancer, 1998, v. 21, n. 1, p. 61, doi. 10.1002/(SICI)1098-2264(199801)21:1<61::AID-GCC8>3.0.CO;2-6
By:
- Marsh, Debbie J.;
- Dahia, Patricia L. M.;
- Coulon, Valérie;
- Zheng, Zimu;
- Dorion-Bonnet, Françoise;
- Call, Katherine M.;
- Little, Randall;
- Lin, Albert Y.;
- Eeles, Rosalind A.;
- Goldstein, Alisa M.;
- Hodgson, Shirley V.;
- Richardson, Anne-Louise;
- Robinson, Bruce G.;
- Weber, H. Christian;
- Longy, Michel;
- Eng, Charis
Publication type:
Article
Medullary Thyroid Carcinoma: Recent Advances and Management Update.
Published in:
Thyroid, 1995, v. 5, n. 5, p. 407, doi. 10.1089/thy.1995.5.407
By:
- MARSH, DEBBIE J.;
- LEAROYD, DIANA L.;
- ROBINSON, BRUCE G.
Publication type:
Article
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
Published in:
Human Molecular Genetics, 2000, v. 9, n. 5, p. 765, doi. 10.1093/hmg/9.5.765
By:
- Zhou, Xiao-Ping;
- Marsh, Debbie J.;
- Hampel, Heather;
- Mulliken, John B.;
- Gimm, Oliver;
- Eng, Charis
Publication type:
Article
Deletion-insertion mutation encompassing RET codon 634 is associated with medullary thyroid carcinoma.
Published in:
Human Mutation, 1998, v. 11, p. S3, doi. 10.1002/humu.1380110102
By:
- Marsh, Debbie J.;
- Andrew, Scott D.;
- Learoyd, Diana L.;
- Pojer, Ruth;
- Eng, Charis;
- Robinson, Bruce G.
Publication type:
Article
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggests a single entity with Cowden syndrome.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 8, p. 1461, doi. 10.1093/hmg/8.8.1461
By:
- Marsh, Debbie J.;
- Kum, Jennifer B.;
- Lunetta, Kathryn L.;
- Bennett, Michael J.;
- Gorlin, Robert J.;
- Ahmed, S. Faisal;
- Bodurtha, Joann;
- Crowe, Carol;
- Curtis, Mary A.;
- Dasouki, Majed;
- Dunn, Teresa;
- Feit, Howard;
- Geraghty, Michael T.;
- Graham Jr, John M.;
- Hodgson, Shirley V.;
- Hunter, Alasdair;
- Korf, Bruce R.;
- Manchester, David;
- Miesfeldt, Susan;
- Murday, Victoria A.
Publication type:
Article
PTEN is inversely correlated with the cell survival factor Akt/PKB and is inactivated via multiple mechanismsin haematological malignancies.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 2, p. 185, doi. 10.1093/hmg/8.2.185
By:
- Dahia, Patricia L. M.;
- Aguiar, Ricardo C. T.;
- Alberta, John;
- Kum, Jennifer B.;
- Caron, Stacey;
- Sill, Heinz;
- Marsh, Debbie J.;
- Ritz, Jerome;
- Freedman, Arnold;
- Stiles, Charles;
- Eng, Charis
Publication type:
Article
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 3, p. 507, doi. 10.1093/hmg/7.3.507
By:
- Marsh, Debbie J.;
- Coulon, Valérie;
- Lunetta, Kathryn L.;
- Rocca‐Serra, Philippe;
- Dahia, Patricia L. M.;
- Zheng, Zimu;
- Liaw, Danny;
- Caron, Stacey;
- Duboué, Bernadette;
- Lin, Albert Y.;
- Richardson, Anne‐Louise;
- Bonnetblanc, Jean‐Marie;
- Bressieux, Jean‐Marie;
- Cabarrot‐Moreau, Agnés;
- Chompret, Agnés;
- Demange, Liliane;
- Eeles, Rosalind A.;
- Yahanda, Alan M.;
- Fearon, Eric R.;
- Fricker, Jean-Pierre
Publication type:
Article
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.
Published in:
Human Molecular Genetics, 1994, v. 3, n. 12, p. 2163
By:
- Mulligan, Lois M.;
- Eng, Charts;
- Attlé, Tanla;
- Lyonnet, Stanislas;
- Marsh, Debbie J.;
- Hyland, Valentine J.;
- Robinson, Bruce G.;
- Frilling, Andrea;
- Verellen-Dumoulln, Christine;
- Safar, Anne;
- Venter, Deon J.;
- Munnich, Arnold;
- Ponder, Bruce A.J.
Publication type:
Article

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