Literature DB >> 12566528

Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients.

G Fitze, E Paditz, M Schläfke, E Kuhlisch, D Roesner, H K Schackert.   

Abstract

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Year:  2003        PMID： 12566528      PMCID： PMC1735365          DOI： 10.1136/jmg.40.2.e10

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  6 in total

1.  Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene.

Authors:  Eliska Vaclavikova; Lucie Kavalcova; Richard Skaba; Sarka Dvorakova; Pavla Macokova; Blanka Rouskova; Bela Bendlova
Journal:  Pediatr Surg Int       Date:  2012-02       Impact factor: 1.827

2.  The intrinsic innervation of the lung is derived from neural crest cells as shown by optical projection tomography in Wnt1-Cre;YFP reporter mice.

Authors:  Lucy J Freem; Sophie Escot; David Tannahill; Noah R Druckenbrod; Nikhil Thapar; Alan J Burns
Journal:  J Anat       Date:  2010-09-14       Impact factor: 2.610

3.  Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus.

Authors:  L de Pontual; A Pelet; D Trochet; F Jaubert; Y Espinosa-Parrilla; A Munnich; J-F Brunet; C Goridis; J Feingold; S Lyonnet; J Amiel
Journal:  J Med Genet       Date:  2006-01-27       Impact factor: 6.318

4.  Molecular analysis of congenital central hypoventilation syndrome.

Authors:  Ayako Sasaki; Masayo Kanai; Kazuki Kijima; Kazuhiro Akaba; Motoya Hashimoto; Hisaya Hasegawa; Shinsuke Otaki; Takenobu Koizumi; Satoshi Kusuda; Youhei Ogawa; Keiji Tuchiya; Wakako Yamamoto; Tomohiko Nakamura; Kiyoshi Hayasaka
Journal:  Hum Genet       Date:  2003-10-18       Impact factor: 4.132

5.  RET polymorphisms and sporadic medullary thyroid carcinoma in a Portuguese population.

Authors:  Patrícia Costa; Rita Domingues; Luís G Sobrinho; Maria João Bugalho
Journal:  Endocrine       Date:  2005-08       Impact factor: 3.925

Review 6.  Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2.

Authors:  Simona M Wagner; ShuJun Zhu; Adrian C Nicolescu; Lois M Mulligan
Journal:  Clinics (Sao Paulo)       Date:  2012       Impact factor: 2.365
  6 in total

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