Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. (Q54283112)

27 May 2018

title

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. (English)

1 reference

27 May 2018

1 reference

17

1 reference

27 May 2018

Débora R Bertola

19

1 reference

27 May 2018

Mayana Zatz

12

Mayana Zatz

1 reference

27 May 2018

Maria Rita Passos-Bueno

18

Maria Rita Passos-Bueno

1 reference

27 May 2018

10

Michel Satya Naslavsky

2 references

27 May 2018

https://orcid.org/0000-0002-9068-1713

Monika Gos

3

Monika Gos

1 reference

27 May 2018

Michelle Buscarilli

9

Michelle Buscarilli

1 reference

27 May 2018

Meire Aguena

2

Meire Aguena

1 reference

27 May 2018

Alexsandra C Malaquias

11

Alexsandra C Malaquias

1 reference

27 May 2018

author name string

Guilherme Lopes Yamamoto

1

1 reference

27 May 2018

Christina Hung

4

1 reference

27 May 2018

Jacek Pilch

5

1 reference

27 May 2018

Somayyeh Fahiminiya

6

1 reference

27 May 2018

Anna Abramowicz

7

1 reference

27 May 2018

Ingrid Cristian

8

1 reference

27 May 2018

Olaf Bodamer

13

1 reference

27 May 2018

Jacek Majewski

14

1 reference

27 May 2018

Alexander A L Jorge

15

1 reference

27 May 2018

Alexandre C Pereira

16

1 reference

27 May 2018

language of work or name

English

0 references

publication date

20 March 2015

1 reference

27 May 2018

Journal of Medical Genetics

published in

1 reference

27 May 2018

volume

52

1 reference

27 May 2018

issue

6

1 reference

27 May 2018

page(s)

413-421

1 reference

27 May 2018

Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines

cites work

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

Noonan syndrome: clinical aspects and molecular pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

Next-generation sequencing identifies rare variants associated with Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

PTPN11 Gene Analysis in 74 Brazilian Patients with Noonan Syndrome or Noonan-like Phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

Further evidence of the importance of RIT1 in Noonan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

Understanding SOS (Son of Sevenless).

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

Isolation and characterization of a novel gene deleted in DiGeorge syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

The BTB-kelch protein LZTR-1 is a novel Golgi protein that is degraded upon induction of apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

The integrated landscape of driver genomic alterations in glioblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

Identifying the Ubiquitin Ligase complex that regulates the NF1 tumor suppressor and Ras.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

Expanding the mutational spectrum of LZTR1 in schwannomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

Molecular mechanisms promoting the pathogenesis of Schwann cell neoplasms

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103018

10.1136/JMEDGENET-2015-103018

21 January 2018

Identifiers

DOI

1 reference

27 May 2018

1 reference

27 May 2018