Occurrence of MEN 2a in familial hirschsprung's disease: A new indication for genetic testing of the RET proto-oncogene (original) (raw)
Hirschsprung Disease in MEN 2A: Increased Spectrum of RET Exon 10 Genotypes and Strong Genotype--Phenotype Correlation
Ruth Decker
Human Molecular Genetics, 1998
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Detection of a germline mutation at codon 918 of the RET proto-oncogene in French MEN 2B families
Isabelle Schuffenecker
Human Genetics, 1995
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RET proto-oncogene mutations in French MEN 2A and FMTC families
Claude Calmettes
Human Molecular Genetics, 1994
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Novel germline mutation in the transmembrane region of RET gene close to Cys634Ser mutation associated with MEN 2A syndrome
Cestmir Altaner
Journal of Molecular Medicine, 2005
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A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion
Carlotta Giani
2020
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Lessons to be learned from the clinical management of a MEN 2A patient bearing a novel 634/640/700 mutation of the RET proto-oncogene
Luigi Santini, Antonio Sinisi, Daniela Pasquali
Clinical Endocrinology, 2012
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A germline RET proto-oncogene mutation in multiple members of an Arab family with variable onset of MEN type 2A-associated clinical manifestations
Makia Marafie
Egyptian Journal of Medical Human Genetics, 2017
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A novel Czech kindred with familial medullary thyroid carcinoma and Hirschsprung's disease
Siminovitch Ka, Marcela Malíková, Richard Škába
Journal of Pediatric Surgery, 2005
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Association of multiple endocrine neoplasia type 2 and Hirschsprung disease
Giuseppe Martucciello
Journal of Internal Medicine, 1998
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A Founding Locus within the RET ProtoOncogene May Account for a Large Proportion of Apparently Sporadic Hirschsprung Disease and a Subset of Cases of Sporadic Medullary Thyroid Carcinoma
Raquel Fernandez
American Journal of Human Genetics, 2003
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Novel intronic polymorphisms in theRET proto-oncogene and their association with Hirschsprung disease
Mandy Schierz
Human Mutation, 2003
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Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC
Hiroshi Takami
Oncogene, 1997
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Oncological implications of RET gene mutations in Hirschsprung's disease
D C Aronson
Gut, 1998
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Prevalence and Parental Origin of de novo RET Mutations in Hirschsprung's Disease
Virginia Barone
European Journal of Human Genetics, 1996
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RET proto-oncogene mutations are restricted to codons 634 and 918 in mainland Chinese families with MEN2A and MEN2B
Nicos Skordis
Clinical Endocrinology, 2007
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A Rare Haplotype of the RET Proto-Oncogene Is a Risk-Modifying Allele in Hirschsprung Disease
Paola Griseri
The American Journal of Human Genetics, 2002
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Thyroid cancer and co-occurring RET mutations in Hirschsprung disease
Antti Koivusalo
Endocrine-Related Cancer, 2013
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A Founding Locus within the< i> RET Proto-Oncogene May Account for a Large Proportion of Apparently Sporadic Hirschsprung Disease and a Subset of Cases of …
Raquel Fernandez
The American Journal of …, 2003
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Diagnostic correlation between RET proto-oncogene mutation, imaging techniques, biochemical markers and morphological examination in MEN2A syndrome: case report and literature review
Eleonora Dronca
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Comprehensive analysis of RET gene should be performed in patients with multiple endocrine neoplasia type 2 (MEN 2) syndrome and no apparent genotype-phenotype correlation: an appraisal of p.Y791F and p.C634Y RET mutations in five unrelated Brazilian families
H. Simião, Ilda Kunii
Journal of endocrinological investigation, 2013
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Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease
Barbara Pasini
Human Molecular Genetics, 1993
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RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family
Elisangela Quedas, Sergio Toledo
Clinics, 2012
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Polymorphisms G691S/S904S of RET as genetic modifiers of MEN 2A
Laura Gil
Cancer research, 2003
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RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds
Bert Bachrach
Journal of Pediatric Surgery, 2008
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Coincidence of multiple endocrine neoplasia types 1 and 2: mutations in the RET protooncogene and MEN1 tumor suppressor gene in a family presenting with …
Javier Aisenberg
Journal of Clinical …, 2005
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Multiple Endocrine Neoplasias Type 2B and RET proto-oncogene
Gian P A O L O Tonini, Giuseppe Martucciello
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