(Q54638028)

1 June 2018

title

Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. (English)

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1 June 2018

multiple endocrine neoplasia type 2A

main subject

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15

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Martin Walter

39

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Charis Eng

42

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Zoran Erlic

Zoran Erlic

3

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Marcos R Tavares

Marcos R Tavares

9

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Nelson Wohllk

Nelson Wohllk

14

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Caterina Mian

Caterina Mian

11

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Ana Luiza Maia

Ana Luiza Maia

23

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Mariola Pęczkowska

36

Mariola Peczkowska

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1 June 2018

author name string

Karin Frank-Raue

1

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1 June 2018

Lisa A Rybicki

2

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1 June 2018

Heiko Schweizer

4

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Aurelia Winter

5

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Ioana Milos

6

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Sergio P A Toledo

7

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Rodrigo A Toledo

8

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Maria Alevizaki

10

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Heide Siggelkow

12

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Michael Hüfner

13

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Sárka Dvořáková

16

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Bela Bendlova

17

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Małgorzata Czetwertynska

18

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1 June 2018

Elżbieta Skasko

19

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Marta Barontini

20

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Gabriela Sanso

21

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Christian Vorländer

22

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Attila Patocs

24

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Thera P Links

25

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Jan Willem de Groot

26

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Michiel N Kerstens

27

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Gerlof D Valk

28

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Konstanze Miehle

29

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Thomas J Musholt

30

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Josefina Biarnes

31

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Svetozar Damjanovic

32

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Mihaela Muresan

33

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1 June 2018

Christian Wüster

34

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Martin Fassnacht

35

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Christine Fauth

37

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Henriette Golcher

38

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Josef Pichl

40

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Friedhelm Raue

41

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Hartmut P H Neumann

43

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1 June 2018

International RET Exon 10 Consortium

44

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1 June 2018

publication date

1 January 2011

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1 June 2018

published in

Human Mutation

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1 June 2018

volume

32

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1 June 2018

issue

1

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1 June 2018

page(s)

51-58

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1 June 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

Prophylactic thyroidectomy in pediatric carriers of multiple endocrine neoplasia type 2A or familial medullary thyroid carcinoma: mutation in C620 is associated with Hirschsprung's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

When is prophylactic thyroidectomy indicated for patients with the RET codon 609 mutation?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

TheRETC620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

Is thyroidectomy necessary in RET mutations carriers of the familial medullary thyroid carcinoma syndrome?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

A nationwide clinical survey of patients with multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma in Japan.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

Medullary thyroid cancer: management guidelines of the American Thyroid Association

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https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

Modification of multiple endocrine neoplasia 2A phenotype by cell membrane proximity of RET mutations in exon 10.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

Characterization of the largest kindred with MEN2A due to a Cys609Ser RET mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

Prognostic factors for survival and for biochemical cure in medullary thyroid carcinoma: results in 899 patients. The GETC Study Group. Groupe d'étude des tumeurs à calcitonine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

Familial medullary thyroid carcinoma: not a distinct entity? Genotype-phenotype correlation in a large family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

Germ-line mutations in nonsyndromic pheochromocytoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

Evidence of MEN-2 in the original description of classic pheochromocytoma.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

Risk estimation and screening in families of patients with medullary thyroid carcinoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

Molecular mechanisms of RET activation in human neoplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

Presentation of a kindred with familial medullary thyroid carcinoma and Cys611Phe mutation of the RET proto-oncogene demonstrating low grade malignancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

Cancer phenomics: RET and PTEN as illustrative models

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21385

7 January 2021

Identifiers

DOI

10.1002/HUMU.21385

1 reference

1 June 2018

PubMed ID

20979234

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1 June 2018