Germline RET codon 918 mutation in apparently isolated intestinal ganglioneuromatosis

被引：11

作者：

Eng, C

Marsh, DJ

Robinson, BG

Chow, CW

Patton, MA

Southey, MC

Venter, DJ

Ponder, BAJ

Milla, PJ

Smith, VV

机构：

[1] Ohio State Univ, Ctr Comprehens Canc, Human Canc Genet Program, Columbus, OH 43210 USA

[2] Harvard Univ, Sch Med, Dana Farber Canc Inst,Dept Med, Dept Adult Oncol,Charles A Dana Human Canc Genet, Boston, MA 02115 USA

[3] Royal N Shore Hosp, Dept Endocrinol, Kolling Inst Med Res, Mol Genet Lab, St Leonards, NSW 2006, Australia

[4] Univ Sydney, Dept Med, Sydney, NSW 2006, Australia

[5] Royal Childrens Hosp, Dept Anat Pathol, Melbourne, Vic, Australia

[6] Peter MacCallum Canc Inst, Dept Pathol, Melbourne, Vic 3052, Australia

[7] Peter MacCallum Canc Inst, Dept Res, Melbourne, Vic 3052, Australia

[8] St George Hosp, Sch Med, Dept Med Genet, London SW7 0RE, England

[9] Univ Cambridge, Canc Res Campaign, Human Canc Genet Res Grp, Cambridge CB2200, England

[10] Great Ormond St Hosp Sick Children, Dept Histopathol, London, England

[11] Great Ormond St Hosp Sick Children, Gastroenterol Unit, London, England

[12] Inst Child Hlth, London WC1N 3JH, England

来源：

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM | 1998年 / 83卷 / 12期

关键词：

D O I：

10.1210/jc.83.12.4191

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：4191 / 4194

页数：4

共 13 条

[1] Seminars in medicine of the Beth Israel Hospital, Boston: The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease [J].

Eng, C .

NEW ENGLAND JOURNAL OF MEDICINE, 1996, 335 (13) :943-951

[2] POINT MUTATION WITHIN THE TYROSINE KINASE DOMAIN OF THE RET PROTOONCOGENE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B AND RELATED SPORADIC TUMORS [J].

ENG, C ;

SMITH, DP ;

MULLIGAN, LM ;

NAGAI, MA ;

HEALEY, CS ;

PONDER, MA ;

GARDNER, E ;

SCHEUMANN, GFW ;

JACKSON, CE ;

TUNNACLIFFE, A ;

PONDER, BAJ .

HUMAN MOLECULAR GENETICS, 1994, 3 (02) :237-241

[3] The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2 - International RET mutation consortium analysis [J].

Eng, C ;

Clayton, D ;

Schuffenecker, I ;

Lenoir, G ;

Cote, G ;

Gagel, RF ;

vanAmstel, HKP ;

Lips, CJM ;

Nishisho, I ;

Takai, SI ;

Marsh, DJ ;

Robinson, BG ;

FrankRaue, K ;

Raue, F ;

Xue, FY ;

Noll, WW ;

Romei, C ;

Pacini, F ;

Fink, M ;

Niederle, B ;

Zedenius, J ;

Nordenskjold, M ;

Komminoth, P ;

Hendy, GN ;

Gharib, H ;

Thibodeau, SN ;

Lacroix, A ;

Frilling, A ;

Ponder, BAJ ;

Mulligan, LM .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1996, 276 (19) :1575-1579

[4]

ENG C, 1998, CLIN ENDOCRINOL, P635

[5]

ENG C, J CLIN ONCOL

[6] Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation [J].

Gimm, O ;

Marsh, DJ ;

Andrew, SD ;

Frilling, A ;

Dahia, PLM ;

Mulligan, LM ;

Zajac, JD ;

Robinson, BG ;

Eng, C .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1997, 82 (11) :3902-3904

[7] Four cases of mucosal neuroma syndrome: Multiple endocrine neoplasm 2B or not 2B? [J].

Gordon, CM ;

Majzoub, JA ;

Marsh, DJ ;

Mulliken, JB ;

Ponder, BAJ ;

Robinson, BG ;

Eng, C .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1998, 83 (01) :17-20

[8] A MUTATION IN THE RET PROTOONCOGENE ASSOCIATED WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE-2B AND SPORADIC MEDULLARY-THYROID CARCINOMA [J].

HOFSTRA, RMW ;

LANDSVATER, RM ;

CECCHERINI, I ;

STULP, RP ;

STELWAGEN, T ;

LUO, Y ;

PASINI, B ;

HOPPENER, JWM ;

VANAMSTEL, HKP ;

ROMEO, G ;

LIPS, CJM ;

BUYS, CHCM .

NATURE, 1994, 367 (6461) :375-376

[9] Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinoma [J].

Marsh, DJ ;

Learoyd, DL ;

Andrew, SD ;

Krishnan, L ;

Pojer, R ;

Richardson, AL ;

Delbridge, L ;

Eng, C ;

Robinson, BG .

CLINICAL ENDOCRINOLOGY, 1996, 44 (03) :249-257

[10] A LINKED GENETIC-MARKER FOR MULTIPLE ENDOCRINE NEOPLASIA TYPE-2A ON CHROMOSOME-10 [J].

MATHEW, CGP ;

CHIN, KS ;

EASTON, DF ;

THORPE, K ;

CARTER, C ;

LIOU, GI ;

FONG, SL ;

BRIDGES, CDB ;

HAAK, H ;

KRUSEMAN, ACN ;

SCHIFTER, S ;

HANSEN, HH ;

TELENIUS, H ;

TELENIUSBERG, M ;

PONDER, BAJ .

NATURE, 1987, 328 (6130) :527-528

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