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Multiple Endocrine Neoplasia Type 1

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1921. Multiple endocrine neoplasia type IIB (PubMed)

Multiple endocrine neoplasia type IIB 8769917 1996 12 24 2014 04 01 0008-428X 39 2 1996 Apr Canadian journal of surgery. Journal canadien de chirurgie Can J Surg Multiple endocrine neoplasia type IIB. 96-7 Schmidt N N Department of Surgery, St. Paul's Hospital, University of British Columbia, Vancouver. eng Case Reports Journal Article Canada Can J Surg 0372715 0008-428X IM Adrenal Gland Neoplasms diagnosis Adult Carcinoma, Medullary diagnosis Eyelid Neoplasms diagnosis Humans Male Multiple (...) Endocrine Neoplasia Type 2b diagnosis Neuroma diagnosis Pheochromocytoma diagnosis Thyroid Neoplasms diagnosis 1996 4 1 1996 4 1 0 1 1996 4 1 0 0 ppublish 8769917 PMC3949844

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1996 Canadian Journal of Surgery

1922. Development of medullary thyroid carcinoma in transgenic mice expressing the RET protooncogene altered by a multiple endocrine neoplasia type 2A mutation (PubMed)

Development of medullary thyroid carcinoma in transgenic mice expressing the RET protooncogene altered by a multiple endocrine neoplasia type 2A mutation Multiple endocrine neoplasia type 2 (MEN 2) is a dominantly inherited cancer syndrome that comprises three clinical subtypes: MEN type 2A (MEN-2A), MEN type 2B (MEN-2B), and familial medullary thyroid carcinoma (FMTC). Medullary thyroid carcinoma (MTC), a malignant tumor arising from calcitonin-secreting thyroid C cells, is the cardinal

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1997 Proceedings of the National Academy of Sciences of the United States of America

1923. A mutation in the RET proto-oncogene in Hirschsprung's disease affects the tyrosine kinase activity associated with multiple endocrine neoplasia type 2A and 2B. (PubMed)

A mutation in the RET proto-oncogene in Hirschsprung's disease affects the tyrosine kinase activity associated with multiple endocrine neoplasia type 2A and 2B. We demonstrate that a Hirschsprung (HSCR) mutation in the tyrosine kinase domain of the RET proto-oncogene abolishes in cis the tyrosine-phosphorylation associated with the activating mutation in multiple endocrine neoplasia type 2A (MEN2A) in transiently transfected Cos cells. Yet the double mutant RET2AHS retains the ability to form (...) stable dimers, thus dissociating the dimerization from the phosphorylation potential. Co-transfection experiments with single and double mutants carrying plasmids RET2A and RET2AHS in different ratios drastically reduced the phosphorylation levels of the RET2A protein, suggesting a dominant-negative effect of the HSCR mutation. Also, the phosphorylation associated with the multiple endocrine neoplasia type 2B (MEN2B) allele was affected in experiments with single and double mutants carrying plasmids

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1996 Biochemical Journal

1924. A novel Val648Ile substitution in RET protooncogene observed in a Cys634Arg multiple endocrine neoplasia type 2A kindred presenting with an adrenocorticotropin-producing pheochromocytoma. (PubMed)

A novel Val648Ile substitution in RET protooncogene observed in a Cys634Arg multiple endocrine neoplasia type 2A kindred presenting with an adrenocorticotropin-producing pheochromocytoma. Multiple endocrine neoplasia type 2 (MEN 2) comprises a heterogeneous group of neoplasic disorders that most commonly have a single missense substitution of the RET protooncogene (RET) involving exons 10 and 11. It was previously reported a MEN 2A kindred in which the father presented with a rare phenotype

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2002 Journal of Clinical Endocrinology and Metabolism

1925. Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A. (PubMed)

Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A. Missense germ-line mutations in the RET protooncogene are associated with multiple endocrine neoplasia type 2A (MEN 2A). Detection of these mutant alleles in kindred members predicts disease inheritance and provides the basis for preventative thyroidectomy.A polymerase chain reaction (PCR)-based genetic test for the 19 known RET mutations was designed to study 132 members of 7

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1994 Annals of Surgery

1926. Parent-of-origin effects in multiple endocrine neoplasia type 2B. (PubMed)

Parent-of-origin effects in multiple endocrine neoplasia type 2B. Multiple endocrine neoplasia type 2B (MEN 2B) is characterized by medullary thyroid carcinoma, pheochromocytomas, mucosal neuromas, ganglioneuromas, and skeletal and ophthalmic abnormalities. It is observed as both inherited and sporadic disease, with an estimated 50% of cases arising de novo. A single point mutation in the catalytic core region of the receptor tyrosine kinase, RET, has been observed in germ-line DNA of MEN 2B

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1994 American Journal of Human Genetics

1927. Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Le Groupe d'Etude des Tumeurs a Calcitonine. (PubMed)

Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Le Groupe d'Etude des Tumeurs a Calcitonine. 8981969 1997 01 23 2018 11 13 0002-9297 60 1 1997 Jan American journal of human genetics Am. J. Hum. Genet. Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Le Groupe d'Etude des Tumeurs a Calcitonine. 233-7 Schuffenecker I I (...) Middle Aged Multiple Endocrine Neoplasia Type 2a genetics Mutation Pedigree Proto-Oncogene Proteins genetics Proto-Oncogene Proteins c-ret Receptor Protein-Tyrosine Kinases genetics Sex Factors Thyroid Neoplasms genetics 1997 1 1 1997 1 1 0 1 1997 1 1 0 0 ppublish 8981969 PMC1712555 Cell. 1996 Jun 28;85(7):1113-24 8674117 Nature. 1996 Jun 27;381(6585):785-9 8657281 J Clin Endocrinol Metab. 1996 Oct;81(10):3740-5 8855832 Nucleic Acids Res. 1987 Dec 10;15(23):10073 2892167 Proc Natl Acad Sci U S

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1997 American Journal of Human Genetics

1928. A Transcript Map for the 2.8-Mb Region Containing the Multiple Endocrine Neoplasia Type 1 Locus (PubMed)

A Transcript Map for the 2.8-Mb Region Containing the Multiple Endocrine Neoplasia Type 1 Locus Multiple endocrine neoplasia type 1 (MEN 1) is an inherited cancer syndrome in which affected individuals develop multiple parathyroid, enteropancreatic, and pituitary tumors. The locus for MEN1 is tightly linked to the marker PYGM on chromosome 11q13, and linkage analysis places the MEN1 gene within a 2-Mb interval flanked by the markers D11S1883 and D11S449. Loss of heterozygosity studies in MEN (...) 1 and sporadic tumors suggest that the MEN1 gene encodes a tumor suppressor and have helped to narrow the location of the gene to a 600-kb interval between PYGM and D11S449. Focusing on this smaller MEN1 interval, we have identified and mapped 12 transcripts to this 600-kb region. A precise ordered map of 33 transcripts, including 12 genes known to map to this region, was generated for the 2.8-Mb D11S480-D11S913 interval. Fifteen candidate genes (of which 10 were examined exhaustively) were

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1997 Genome Research

1929. Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome). (PubMed)

Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome). Multiple endocrine neoplasia type 2B (MEN 2B), or the mucosal neuroma syndrome, is an autosomal dominant hamartoneoplastic syndrome. Features include multiple mucosal neuromas, phaeochromocytoma, medullary thyroid carcinoma, and Marfanoid body habitus with a characteristic dysmorphic facies. The gene responsible is the receptor tyrosine kinase (RET) proto-oncogene on chromosome 10. The mutational

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1996 Journal of Medical Genetics

1930. Intestinal ganglioneuromatosis and multiple endocrine neoplasia type 2B: implications for treatment (PubMed)

Intestinal ganglioneuromatosis and multiple endocrine neoplasia type 2B: implications for treatment Three infants, who presented with intestinal obstruction due to diffuse transmural intestinal ganglioneuromatosis, are described. Mutation analysis of exon 16 of the RET proto-oncogene revealed germline M918T and thus, a molecular diagnosis of multiple endocrine neoplasia type 2B (MEN 2B). Two infants developed medullary carcinoma of the thyroid. The third had a prophylactic thyroidectomy despite

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1999 Gut

1931. Gastrointestinal Manifestations of Multiple Endocrine Neoplasia Type 2 (PubMed)

Gastrointestinal Manifestations of Multiple Endocrine Neoplasia Type 2 To determine the clinical features, natural history, and role of surgery for gastrointestinal manifestations of the multiple endocrine neoplasia type 2 (MEN 2) syndromes.The MEN 2 syndromes are characterized by medullary thyroid carcinoma and other endocrinopathies. In addition, some patients with MEN 2A develop Hirschsprung's disease (HD), and all patients with MEN 2B have intestinal neuromas and megacolon that can cause (...) significant gastrointestinal problems.From 83 families with MEN 2A, eight patients with HD were identified (MEN 2A-HD). These and all patients with MEN 2B followed at the authors' institution (n = 53) were sent questionnaires to describe the onset and type of gastrointestinal symptoms and treatment they had before the diagnosis of MEN 2. Records of all patients responding were reviewed, including radiographic imaging, histology, surgical records, and genetic testing.Thirty-six of the 61 patients (59

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2002 Annals of Surgery

1932. Multiple endocrine neoplasia, type II: a combined surgical and genetic approach to treatment [correction] (PubMed)

Multiple endocrine neoplasia, type II: a combined surgical and genetic approach to treatment [correction] 7237312 1981 08 10 2008 11 20 0008-4409 124 10 1981 May 15 Canadian Medical Association journal Can Med Assoc J Multiple endocrine neoplasia, type II: a combined surgical and genetic approach to treatment [correction]. 1262-3 Partington M W MW Sears E V EV eng Letter Canada Can Med Assoc J 0414110 0008-4409 AIM IM Humans Neoplasms, Multiple Primary genetics Probability 1981 5 15 1981 5 15 0 (...) 1 1981 5 15 0 0 ppublish 7237312 PMC1705447

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1981 Canadian Medical Association Journal

1933. Multiple endocrine neoplasia, type II: a combined surgical and genetic approach to treatment. (PubMed)

Multiple endocrine neoplasia, type II: a combined surgical and genetic approach to treatment. A family with multiple endocrine neoplasia, type II living in southeastern Ontario is described. Twenty individuals are known to have had medullary carcinoma of the thyroid, pheochromocytoma or both, the diagnosis of multiple endocrine neoplasia. type II is strongly suspected in five other individuals in the earlier generations. In this family the diseases seems to be transmitted by an autosomal

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1981 Canadian Medical Association Journal

1934. Subtotal parathyroidectomy for primary chief cell hyperplasia of the multiple endocrine neoplasia type I syndrome. (PubMed)

Subtotal parathyroidectomy for primary chief cell hyperplasia of the multiple endocrine neoplasia type I syndrome. To evaluate the efficacy of subtotal parathyroidectomy (STP) in the treatment of primary hyperparathyroidism due to multiple gland disease, 12 patients with multiple endocrine neoplasia (MEN) type I syndrome were reviewed out of 132 patients undergoing parathyroidectomy. Each patient had yearly follow-up examinations and calcium determinations for a minimum of four years except (...) of calcium and vitamin D therapy. In patients with MEN type I, the long-term results of STP are less than satisfactory. Not only is it difficult to gauge how viable parathyroid tissue must be left to prevent both permanent hypoparathyroidism and persistent hyperparathyroidism but there is also a long-term risk of recurrence.

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1981 Annals of Surgery

1935. A new DNA marker (D10S94) very tightly linked to the multiple endocrine neoplasia type 2A (MEN2A) locus. (PubMed)

A new DNA marker (D10S94) very tightly linked to the multiple endocrine neoplasia type 2A (MEN2A) locus. Combined somatic cell hybrid and linkage studies between D10S94 and five pericentromeric loci (FNRB, D10Z1, MEN2A, RBP3, and D10S15) have localized the new DNA sequence pcl1/A1S-6-c23 at D10S94 to 10q11.2. No recombinants were observed between D10S94 and D10Z1 or MEN2A. D10S94 maps in proximal 10q11.2 very near to MEN2A. There are three possible orders for the six loci that we investigated

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1990 American Journal of Human Genetics

1936. The genetic defect in multiple endocrine neoplasia type 2A maps next to the centromere of chromosome 10 (PubMed)

The genetic defect in multiple endocrine neoplasia type 2A maps next to the centromere of chromosome 10 Multiple endocrine neoplasia type 2A (MEN2A) is a rare cancer syndrome that is inherited in an apparently autosomal dominant fashion. Previous linkage studies had assigned the MEN2A locus to chromosome 10 in the pericentromeric region. We recently have described several new easily scorable RFLPs for the chromosome 10-specific alpha satellite DNA (the D10Z1) locus that is known, on the basis (...) of previous in situ hybridization experiments, to lie at the centromere. We report here tight linkage between MEN2A and D10Z1, as demonstrated by a maximum lod score of 12.02 at the recombination frequency of zero (1-lod-unit support interval 0-4 cM), indicating that the genetic defect in MEN2A lies in the immediate vicinity of the centromere. By means of a set of ordered polymorphic DNA markers from the pericentromeric region, multipoint as well as pairwise linkage analyses place the MEN2A locus

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1990 American Journal of Human Genetics

1937. Multiple endocrine neoplasia type 2. (PubMed)

Multiple endocrine neoplasia type 2. 1969297 1990 05 10 2018 11 13 0959-8138 300 6723 1990 Feb 24 BMJ (Clinical research ed.) BMJ Multiple endocrine neoplasia type 2. 484-5 Ponder B B Cancer Research Campaign Human Cancer Genetics Research Group, University of Cambridge. eng Journal Article Review England BMJ 8900488 0959-8138 AIM IM BMJ 1990 Mar 10;300(6725):624 Chromosome Mapping Chromosomes, Human, Pair 10 Female Humans Male Multiple Endocrine Neoplasia genetics 10 1990 2 24 1990 2 24 0 1

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1990 BMJ : British Medical Journal

1938. Multiple endocrine neoplasia type 2 (Sipple's syndrome): clinical and cytogenetic analysis of a kindred. (PubMed)

Multiple endocrine neoplasia type 2 (Sipple's syndrome): clinical and cytogenetic analysis of a kindred. This report describes the clinical and cytogenetic analysis of a kindred with multiple endocrine neoplasia type 2 (MEN-2 or Sipple's syndrome) in two generations. Medullary thyroid carcinoma was present in five members either as a large or as an occult tumour. Phaeochromocytoma was demonstrated in one severely hypertensive relative and urine vanillylmandelic acid (VMA) was increased in one

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1984 Journal of Medical Genetics

1939. Linkage analysis of a DNA marker localized to 20p12 and multiple endocrine neoplasia type 2A. (PubMed)

Linkage analysis of a DNA marker localized to 20p12 and multiple endocrine neoplasia type 2A. A DNA segment D20S5 isolated from a chromosome 19/20 flow-sorted library was shown to identify two restriction fragment length polymorphisms (RFLPs) with MspI and PvuII. The probe was localized by hybridization in situ to 20p12, the putative site of an interstitial deletion in some MEN 2A and 2B patients. Linkage of the D20S5 and MEN 2A loci was excluded at theta less than or equal to .13 using two

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1985 American Journal of Human Genetics

1940. Genetic analysis of 24 French families with multiple endocrine neoplasia type 2A. (PubMed)

Genetic analysis of 24 French families with multiple endocrine neoplasia type 2A. The gene for multiple endocrine neoplasia type 2A (MEN2A) has been mapped to the pericentromeric region of chromosome 10 by linkage analysis. Thirty-four families with multiple cases of medullary carcinoma of the thyroid (MTC), including 24 families with origins in France, have been typed with nine polymorphic markers spanning the centromere of chromosome 10. No recombination was observed between the MEN2A locus

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1992 American Journal of Human Genetics

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