(Q33586709)

28 July 2017

title

Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome (English)

1 reference

multiple endocrine neoplasia type 2

28 July 2017

main subject

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11

Kornelia Hasse-Lazar

1 reference

28 July 2017

Zoran Erlic

1

0 references

Mercedes Robledo

object named as

Mercedes Robledo

13

0 references

Charis Eng

object named as

Charis Eng

15

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Mariola Pęczkowska

5

object named as

Mariola Peczkowska

1 reference

28 July 2017

14

Andrzej Januszewicz

1 reference

28 July 2017

Michael M Hoffmann

2

1 reference

28 July 2017

Maren Sullivan

3

1 reference

28 July 2017

Gerlind Franke

4

1 reference

28 July 2017

Igor Harsch

6

1 reference

28 July 2017

Matthias Schott

7

1 reference

28 July 2017

Helmut E Gabbert

8

1 reference

28 July 2017

Matti Valimäki

9

1 reference

28 July 2017

Simon F Preuss

10

1 reference

28 July 2017

Dariusz Waligorski

12

1 reference

28 July 2017

Hartmut P H Neumann

16

1 reference

28 July 2017

language of work or name

English

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publication date

11 November 2009

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The Journal of Clinical Endocrinology and Metabolism

28 July 2017

published in

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28 July 2017

volume

95

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28 July 2017

issue

1

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28 July 2017

page(s)

308-313

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Medullary thyroid cancer: management guidelines of the American Thyroid Association

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805484

Early Malignant Progression of Hereditary Medullary Thyroid Cancer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805484

Surgical strategy in a kindred with a rare RET protooncogene mutation of variable penetrance with regard to multiple endocrine neoplasia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805484

Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805484

von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805484

Endocrine changes associated with the human aging process: III. Effect of age on the number of calcitonin immunoreactive cells in the thyroid gland

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805484

C-cell hyperplasia of the thyroid in a patient with goitrous hypothyroidism and Hashimoto's thyroiditis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805484

Familial pheochromocytoma.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805484

Frequency of RET proto-oncogene mutations in patients with normal and with moderately elevated pentagastrin-stimulated serum concentrations of calcitonin.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805484

Germline RET 634 mutation positive MEN 2A-related C-cell hyperplasias have genetic features consistent with intraepithelial neoplasia

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805484

Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805484

C-cell hyperplasia accompanying thyroid diseases other than medullary carcinoma: an immunocytochemical study by means of antibodies to calcitonin and somatostatin

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805484

Papillary thyroid carcinoma in patients with RET proto-oncogene germline mutation

31 October 2018

1 reference

12 December 2020

RET proto-oncogene mutations affecting codon 790/791: A mild form of multiple endocrine neoplasia type 2A syndrome?

1 reference

12 December 2020

Hereditary medullary thyroid carcinoma--genotype-phenotype characterization

1 reference

12 December 2020

C-cell nodules in adult human thyroid. A common autopsy finding

1 reference

12 December 2020

C-cell hyperplasia in thyroid tissue adjacent to follicular cell tumors

1 reference

12 December 2020

Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II

1 reference

12 December 2020

Frequency of RET mutations in long- and short-segment Hirschsprung disease

1 reference

12 December 2020

Long-term outcome in 46 gene carriers of hereditary medullary thyroid carcinoma after prophylactic thyroidectomy: impact of individual RET genotype

1 reference

12 December 2020

Early and precursor lesions in endocrine pathology: innocent lambs or wolves in sheep's clothing?

1 reference

12 December 2020

Identifiers

DOI

10.1210/JC.2009-1728

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28 July 2017

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28 July 2017

1 reference