(Q40882961)

24 September 2017

RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems (English)

1 reference

24 September 2017

Hofstra RM

1

1 reference

24 September 2017

Wu Y

2

1 reference

24 September 2017

Stulp RP

3

1 reference

24 September 2017

Elfferich P

4

1 reference

24 September 2017

Osinga J

5

1 reference

24 September 2017

Maas SM

6

1 reference

24 September 2017

Siderius L

7

1 reference

24 September 2017

Brooks AS

8

1 reference

24 September 2017

vd Ende JJ

9

1 reference

24 September 2017

Heydendael VM

10

1 reference

24 September 2017

Severijnen RS

11

1 reference

24 September 2017

Bax KM

12

1 reference

24 September 2017

Meijers C

13

1 reference

24 September 2017

Buys CH

14

1 reference

24 September 2017

1 January 2000

1 reference

24 September 2017

1 reference

24 September 2017

15

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24 September 2017

5

1 reference

24 September 2017

418-429

1 reference

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient

24 September 2017

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

A mutation at tyrosine 1062 in MEN2A-Ret and MEN2B-Ret impairs their transforming activity and association with shc adaptor proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

Mutations of the RET proto-oncogene in Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

Improvements in gel composition and electrophoretic conditions for broad-range mutation analysis by denaturing gradient gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

GDNF-induced activation of the ret protein tyrosine kinase is mediated by GDNFR-alpha, a novel receptor for GDNF

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

Loss of function effect of RET mutations causing Hirschsprung disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

Oncological implications of RET gene mutations in Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

Expression of proto-ret mRNA in embryonic and adult rat tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

Activation of a novel human transforming gene, ret, by DNA rearrangement

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

ret transforming gene encodes a fusion protein homologous to tyrosine kinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

Characterization of a multicomponent receptor for GDNF.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

Improvement of fragment and primer selection for mutation detection by denaturing gradient gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

Improved mutation detection in GC-rich DNA fragments by combined DGGE and CDGE.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

Absence of mutations in the RET gene in acute myeloid leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

RET Mutation Screening in Familial Cutaneous Lichen Amyloidosis and in Skin Amyloidosis Associated With Multiple Endocrine Neoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

Detection of RET mutations in multiple endocrine neoplasia type 2a and familial medullary thyroid carcinoma by denaturing gradient gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

Comprehensive and accurate mutation scanning of theCFTR gene by two-dimensional DNA electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

MSH2 andMLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C418%3A%3AAID-HUMU3%3E3.0.CO%3B2-2

10.1002/(SICI)1098-1004(200005)15:5<418::AID-HUMU3>3.0.CO;2-2

21 January 2018

Identifiers

DOI

1 reference

24 September 2017

1 reference