RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems (Q40882961)

24 September 2017

title

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

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24 September 2017

Hofstra RM

1

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24 September 2017

Wu Y

2

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24 September 2017

Stulp RP

3

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24 September 2017

Elfferich P

4

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24 September 2017

Osinga J

5

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24 September 2017

Maas SM

6

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24 September 2017

Siderius L

7

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24 September 2017

Brooks AS

8

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24 September 2017

vd Ende JJ

9

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24 September 2017

Heydendael VM

10

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24 September 2017

Severijnen RS

11

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24 September 2017

Bax KM

12

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24 September 2017

Meijers C

13

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24 September 2017

Buys CH

14

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24 September 2017

publication date

1 January 2000

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24 September 2017

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24 September 2017

volume

15

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24 September 2017

issue

5

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24 September 2017

page(s)

418-429

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

24 September 2017

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

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

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

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Loss of function effect of RET mutations causing Hirschsprung disease.

21 January 2018

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

21 January 2018

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SOX10 mutations in patients with Waardenburg-Hirschsprung disease

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Oncological implications of RET gene mutations in Hirschsprung's disease

21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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Characterization of a multicomponent receptor for GDNF.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

21 January 2018

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

21 January 2018

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

21 January 2018

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Absence of mutations in the RET gene in acute myeloid leukemia

21 January 2018

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

21 January 2018

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Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domain

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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