(Q48860457)

16 February 2018

http://europepmc.org/abstract/MED/21972109

title

Germline gain-of-function mutations of ALK disrupt central nervous system development (English)

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16 February 2018

http://europepmc.org/abstract/MED/21972109

author

Christopher T Gordon

3

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http://europepmc.org/abstract/MED/21972109

Stanislas Lyonnet

17

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http://europepmc.org/abstract/MED/21972109

Isabelle Janoueix-Lerosey

18

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16 February 2018

http://europepmc.org/abstract/MED/21972109

Jeanne Amiel

19

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16 February 2018

http://europepmc.org/abstract/MED/21972109

Heather Etchevers

Heather Etchevers

16

0 references

Nathalie Boddaert

Nathalie Boddaert

5

0 references

Olivier Delattre

Olivier Delattre

14

0 references

Arnold Munnich

12

Arnold Munnich

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16 February 2018

1

Loïc de Pontual

1 reference

16 February 2018

http://europepmc.org/abstract/MED/21972109

Michel Vekemans

15

Michel Vekemans

1 reference

16 February 2018

http://europepmc.org/abstract/MED/21972109

Myriam Oufadem

4

Myriam Oufadem

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16 February 2018

http://europepmc.org/abstract/MED/21972109

Julie Mollet

10

Julie Mollet

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16 February 2018

http://europepmc.org/abstract/MED/21972109

author name string

Dania Kettaneh

2

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16 February 2018

http://europepmc.org/abstract/MED/21972109

Melissa Lees

6

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16 February 2018

http://europepmc.org/abstract/MED/21972109

Laurent Balu

7

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16 February 2018

http://europepmc.org/abstract/MED/21972109

Eric Lachassinne

8

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16 February 2018

http://europepmc.org/abstract/MED/21972109

Andy Petros

9

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16 February 2018

http://europepmc.org/abstract/MED/21972109

Louise C Wilson

11

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16 February 2018

http://europepmc.org/abstract/MED/21972109

Laurence Brugière

13

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16 February 2018

http://europepmc.org/abstract/MED/21972109

publication date

1 March 2011

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16 February 2018

http://europepmc.org/abstract/MED/21972109

published in

Human Mutation

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16 February 2018

http://europepmc.org/abstract/MED/21972109

volume

32

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16 February 2018

http://europepmc.org/abstract/MED/21972109

issue

3

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16 February 2018

http://europepmc.org/abstract/MED/21972109

page(s)

272-276

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16 February 2018

http://europepmc.org/abstract/MED/21972109

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21 January 2018

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Behavioral and neurochemical alterations in mice deficient in anaplastic lymphoma kinase suggest therapeutic potential for psychiatric indications

21 January 2018

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Crystal structures of anaplastic lymphoma kinase in complex with ATP competitive inhibitors

21 January 2018

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Meta-analysis of neuroblastomas reveals a skewed ALK mutation spectrum in tumors with MYCN amplification

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Activating mutations in ALK provide a therapeutic target in neuroblastoma

21 January 2018

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Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

21 January 2018

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High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.

21 January 2018

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Anaplastic lymphoma kinase is dynamically expressed on subsets of motor neurons and in the peripheral nervous system

21 January 2018

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Molecular characterization of ALK, a receptor tyrosine kinase expressed specifically in the nervous system

21 January 2018

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Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma

21 January 2018

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Molecular pathogenesis of peripheral neuroblastic tumors

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IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

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21 January 2018

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Identification of ALK as a major familial neuroblastoma predisposition gene

21 January 2018

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

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21 January 2018

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21 January 2018

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Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

21 January 2018

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Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

21 January 2018

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Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

21 January 2018

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21 January 2018

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Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation

21 January 2018

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21 January 2018

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21 January 2018

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Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

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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21 January 2018

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.21442

1 reference

16 February 2018

http://europepmc.org/abstract/MED/21972109

1 reference

16 February 2018