Literature DB >> 10521317

Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease.

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

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Year:  1999        PMID： 10521317      PMCID： PMC1288303          DOI： 10.1086/302618

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  28 in total

1.  Genetic linkage of lung cancer-associated MspI polymorphisms with amino acid replacement in the heme binding region of the human cytochrome P450IA1 gene.

Authors:  S Hayashi; J Watanabe; K Nakachi; K Kawajiri
Journal:  J Biochem       Date:  1991-09       Impact factor: 3.387

2.  A genetic study of Hirschsprung disease.

Authors:  J A Badner; W K Sieber; K L Garver; A Chakravarti
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025

3.  Mutations in the extracellular domain cause RET loss of function by a dominant negative mechanism.

Authors:  M P Cosma; M Cardone; F Carlomagno; V Colantuoni
Journal:  Mol Cell Biol       Date:  1998-06       Impact factor: 4.272

4.  Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation.

Authors:  O Gimm; D S Neuberg; D J Marsh; P L Dahia; C Hoang-Vu; F Raue; R Hinze; H Dralle; C Eng
Journal:  Oncogene       Date:  1999-02-11       Impact factor: 9.867

5.  Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.

Authors:  H Donis-Keller; S Dou; D Chi; K M Carlson; K Toshima; T C Lairmore; J R Howe; J F Moley; P Goodfellow; S A Wells
Journal:  Hum Mol Genet       Date:  1993-07       Impact factor: 6.150

6.  Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

Authors:  L M Mulligan; J B Kwok; C S Healey; M J Elsdon; C Eng; E Gardner; D R Love; S E Mole; J K Moore; L Papi
Journal:  Nature       Date:  1993-06-03       Impact factor: 49.962

7.  Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease.

Authors:  S Borrego; C Eng; B Sánchez; M E Sáez; E Navarro; G Antiñolo
Journal:  J Clin Endocrinol Metab       Date:  1998-09       Impact factor: 5.958

8.  Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease.

Authors:  G Romeo; P Ronchetto; Y Luo; V Barone; M Seri; I Ceccherini; B Pasini; R Bocciardi; M Lerone; H Kääriäinen
Journal:  Nature       Date:  1994-01-27       Impact factor: 49.962

9.  A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.

Authors:  R M Hofstra; R M Landsvater; I Ceccherini; R P Stulp; T Stelwagen; Y Luo; B Pasini; J W Höppener; H K van Amstel; G Romeo
Journal:  Nature       Date:  1994-01-27       Impact factor: 49.962

10.  Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.

Authors:  A Auricchio; P Griseri; M L Carpentieri; N Betsos; A Staiano; A Tozzi; M Priolo; H Thompson; R Bocciardi; G Romeo; A Ballabio; I Ceccherini
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025
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  23 in total

1.  RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.

Authors:  S Borrego; A Ruiz; M E Saez; O Gimm; X Gao; M López-Alonso; A Hernández; F A Wright; G Antiñolo; C Eng
Journal:  J Med Genet       Date:  2000-08       Impact factor: 6.318

2.  A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.

Authors:  Salud Borrego; Fred A Wright; Raquel M Fernández; Nita Williams; Manuel López-Alonso; Ramana Davuluri; Guillermo Antiñolo; Charis Eng
Journal:  Am J Hum Genet       Date:  2002-12-09       Impact factor: 11.025

3.  Novel sequence variants of the genes associated with the multiple endocrine neoplasia syndromes 1 and 2. analysis by an "in silico approach.".

Authors:  P Igaz; A Patócs; K Rácz
Journal:  J Endocrinol Invest       Date:  2002 Jul-Aug       Impact factor: 4.256

4.  RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2.

Authors:  V Neocleous; N Skordis; G Portides; E Efstathiou; C Costi; N Ioannou; M Pantzaris; V Anastasiadou; C Deltas; L A Phylactou
Journal:  J Endocrinol Invest       Date:  2011-03-21       Impact factor: 4.256

5.  Single nucleotide polymorphisms in the RET gene and their correlations with Hirschsprung disease phenotype.

Authors:  Robert Smigiel; Arleta Lebioda; Dariusz Patkowski; Jerzy Czernik; Tadeusz Dobosz; Karolina Pesz; Monika Kaczmarz; Maria M Sasiadek
Journal:  J Appl Genet       Date:  2006       Impact factor: 3.240

6.  RET polymorphisms and the risk of Hirschsprung's disease in a Chinese population.

Authors:  Cuiping Liu; Lei Jin; Hui Li; Jintu Lou; Chunfen Luo; Xuewu Zhou; Ji-Cheng Li
Journal:  J Hum Genet       Date:  2008-07-08       Impact factor: 3.172

Review 7.  Genetic basis of Hirschsprung's disease.

Authors:  Paul K H Tam; Mercè Garcia-Barceló
Journal:  Pediatr Surg Int       Date:  2009-06-12       Impact factor: 1.827

8.  Various penetrance of familial medullary thyroid carcinoma in patients with RET protooncogene codon 790/791 germline mutations.

Authors:  Guido Fitze; Mandy Schierz; Jan Bredow; Hans D Saeger; Dietmar Roesner; Hans K Schackert
Journal:  Ann Surg       Date:  2002-11       Impact factor: 12.969

9.  Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.

Authors:  Eileen Sproat Emison; Merce Garcia-Barcelo; Elizabeth A Grice; Francesca Lantieri; Jeanne Amiel; Grzegorz Burzynski; Raquel M Fernandez; Li Hao; Carl Kashuk; Kristen West; Xiaoping Miao; Paul K H Tam; Paola Griseri; Isabella Ceccherini; Anna Pelet; Anne-Sophie Jannot; Loic de Pontual; Alexandra Henrion-Caude; Stanislas Lyonnet; Joke B G M Verheij; Robert M W Hofstra; Guillermo Antiñolo; Salud Borrego; Andrew S McCallion; Aravinda Chakravarti
Journal:  Am J Hum Genet       Date:  2010-07-09       Impact factor: 11.025

10.  Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload.

Authors:  Monique G Zaahl; Alison T Merryweather-Clarke; Maritha J Kotze; Schalk van der Merwe; Louise Warnich; Kathryn J H Robson
Journal:  Hum Genet       Date:  2004-08-24       Impact factor: 4.132
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