(Q42816100)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714497%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations (English)

1 reference

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3 March 2020

1 reference

13

1 reference

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3 March 2020

Tsutomu Ogata

19

1 reference

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3 March 2020

author name string

Masako Yaoita

1

1 reference

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3 March 2020

Tetsuya Niihori

2

1 reference

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3 March 2020

Seiji Mizuno

3

1 reference

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3 March 2020

Nobuhiko Okamoto

4

1 reference

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3 March 2020

Shion Hayashi

5

1 reference

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3 March 2020

Atsushi Watanabe

6

1 reference

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3 March 2020

Masato Yokozawa

7

1 reference

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3 March 2020

Hiroshi Suzumura

8

1 reference

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3 March 2020

Akihiko Nakahara

9

1 reference

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3 March 2020

Yusuke Nakano

10

1 reference

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3 March 2020

Tatsunori Hokosaki

11

1 reference

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3 March 2020

Ayumi Ohmori

12

1 reference

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3 March 2020

Ohsuke Migita

14

1 reference

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3 March 2020

Aya Mima

15

1 reference

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3 March 2020

Pablo Lapunzina

16

1 reference

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3 March 2020

Fernando Santos-Simarro

17

1 reference

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3 March 2020

Sixto García-Miñaúr

18

1 reference

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3 March 2020

Hiroshi Kawame

20

1 reference

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3 March 2020

Kenji Kurosawa

21

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3 March 2020

Hirofumi Ohashi

22

1 reference

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3 March 2020

Shin-Ichi Inoue

23

1 reference

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3 March 2020

Yoichi Matsubara

24

1 reference

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3 March 2020

Shigeo Kure

25

1 reference

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3 March 2020

Yoko Aoki

26

1 reference

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3 March 2020

language of work or name

1 reference

29 December 2015

1 reference

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3 March 2020

1 reference

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3 March 2020

volume

135

1 reference

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3 March 2020

issue

2

1 reference

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3 March 2020

page(s)

209-222

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714497%20AND%20SRC:MED&resulttype=core&format=json

Ras/MAPK syndromes and childhood hemato-oncological diseases

3 March 2020

cites work

1 reference

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Germline mutations in HRAS proto-oncogene cause Costello syndrome

21 January 2018

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Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome

21 January 2018

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Oncogenic RIT1 mutations in lung adenocarcinoma

21 January 2018

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Further evidence of the importance of RIT1 in Noonan syndrome.

21 January 2018

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Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

21 January 2018

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Next-generation sequencing identifies rare variants associated with Noonan syndrome

21 January 2018

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A restricted spectrum of NRAS mutations causes Noonan syndrome

21 January 2018

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Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

21 January 2018

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Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene

21 January 2018

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Novel recurrent mutations in the RAS-like GTP-binding gene RIT1 in myeloid malignancies.

21 January 2018

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Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity

21 January 2018

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PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome

21 January 2018

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Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

21 January 2018

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Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

21 January 2018

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21 January 2018

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Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

21 January 2018

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Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

21 January 2018

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Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

21 January 2018

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Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

21 January 2018

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Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

21 January 2018

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Efficient selection for high-expression transfectants with a novel eukaryotic vector

21 January 2018

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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

21 January 2018

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21 January 2018

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Germline gain-of-function mutations in SOS1 cause Noonan syndrome

21 January 2018

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Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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