Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 307

Similar articles for PubMed (Select 8896568)

1.

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient.

Angrist M, Bolk S, Halushka M, Lapchak PA, Chakravarti A.

Nat Genet. 1996 Nov;14(3):341-4.

PMID:
8896568
2.

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.

Salomon R, Attié T, Pelet A, Bidaud C, Eng C, Amiel J, Sarnacki S, Goulet O, Ricour C, Nihoul-Fékété C, Munnich A, Lyonnet S.

Nat Genet. 1996 Nov;14(3):345-7.

PMID:
8896569
3.

Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility.

Angrist M, Jing S, Bolk S, Bentley K, Nallasamy S, Halushka M, Fox GM, Chakravarti A.

Genomics. 1998 Mar 15;48(3):354-62.

PMID:
9545641
4.

RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.

Hofstra RM, Wu Y, Stulp RP, Elfferich P, Osinga J, Maas SM, Siderius L, Brooks AS, vd Ende JJ, Heydendael VM, Severijnen RS, Bax KM, Meijers C, Buys CH.

Hum Mutat. 2000;15(5):418-29.

PMID:
10790203
5.

Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease.

Gath R, Goessling A, Keller KM, Koletzko S, Coerdt W, Müntefering H, Wirth S, Hofstra RM, Mulligan L, Eng C, von Deimling A.

Gut. 2001 May;48(5):671-5.

6.

De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease.

Ivanchuk SM, Myers SM, Eng C, Mulligan LM.

Hum Mol Genet. 1996 Dec;5(12):2023-6.

7.

Familial form of hirschsprung disease: nucleotide sequence studies reveal point mutations in the RET proto-oncogene in two of six families but not in other candidate genes.

Munnes M, Fanaei S, Schmitz B, Muiznieks I, Holschneider AM, Doerfler W.

Am J Med Genet. 2000 Sep 4;94(1):19-27.

PMID:
10982477
8.

Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.

Woodward ER, Eng C, McMahon R, Voutilainen R, Affara NA, Ponder BA, Maher ER.

Hum Mol Genet. 1997 Jul;6(7):1051-6.

9.
10.

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.

Angrist M, Bolk S, Thiel B, Puffenberger EG, Hofstra RM, Buys CH, Cass DT, Chakravarti A.

Hum Mol Genet. 1995 May;4(5):821-30.

PMID:
7633441
11.

Glial cell line-derived neurotrophic factor differentially stimulates ret mutants associated with the multiple endocrine neoplasia type 2 syndromes and Hirschsprung's disease.

Carlomagno F, Melillo RM, Visconti R, Salvatore G, De Vita G, Lupoli G, Yu Y, Jing S, Vecchio G, Fusco A, Santoro M.

Endocrinology. 1998 Aug;139(8):3613-9.

PMID:
9681515
12.

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease.

Doray B, Salomon R, Amiel J, Pelet A, Touraine R, Billaud M, Attié T, Bachy B, Munnich A, Lyonnet S.

Hum Mol Genet. 1998 Sep;7(9):1449-52. Erratum in: Hum Mol Genet 1998 Oct;7(11):1831.

13.

Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease.

Garcia-Barceló M, Sham MH, Lee WS, Lui VC, Chen BL, Wong KK, Wong JS, Tam PK.

Clin Chem. 2004 Jan;50(1):93-100. Epub 2003 Nov 18.

14.

[From monogenic to polygenic: model of Hirschsprung disease].

Salomon R, Amiel J, Attié T, Pelet A, Munnich A, Lyonnet S.

Pathol Biol (Paris). 1998 Nov;46(9):705-7. Review. French.

PMID:
9885824
15.

Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site.

Geneste O, Bidaud C, De Vita G, Hofstra RM, Tartare-Deckert S, Buys CH, Lenoir GM, Santoro M, Billaud M.

Hum Mol Genet. 1999 Oct;8(11):1989-99.

16.

Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case.

Kanai M, Numakura C, Sasaki A, Shirahata E, Akaba K, Hashimoto M, Hasegawa H, Shirasawa S, Hayasaka K.

Tohoku J Exp Med. 2002 Apr;196(4):241-6.

17.

[Molecular basis of Hirschsprung disease].

Inoue M, Okada A.

Nihon Rinsho. 1998 Jan;56(1):249-57. Review. Japanese.

PMID:
9465697
18.

Hirschsprung associated GDNF mutations do not prevent RET activation.

Borghini S, Bocciardi R, Bonardi G, Matera I, Santamaria G, Ravazzolo R, Ceccherini I.

Eur J Hum Genet. 2002 Mar;10(3):183-7.

19.

Infrequent detectable somatic mutations of the RET and glial cell line-derived neurotrophic factor (GDNF) genes in human pituitary adenomas.

Yoshimoto K, Tanaka C, Moritani M, Shimizu E, Yamaoka T, Yamada S, Sano T, Itakura M.

Endocr J. 1999 Feb;46(1):199-207.

20.
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk