(Q35668098)

9 August 2017

title

Phenotypic and molecular insights into CASK-related disorders in males (English)

1 reference

9 August 2017

16

Jörg Schmidtke

0 references

Lionel Van Maldergem

19

object named as

Lionel Van Maldergem

0 references

Thomas Brune

6

object named as

Thomas Brune

0 references

Kerstin Kutsche

20

object named as

Kerstin Kutsche

1 reference

9 August 2017

13

Björn Menten

1 reference

9 August 2017

15

Rolph Pfundt

1 reference

9 August 2017

12

Helger Yntema

1 reference

9 August 2017

Ute Moog

1

1 reference

9 August 2017

Tatjana Bierhals

2

1 reference

9 August 2017

Kristina Brand

3

1 reference

9 August 2017

Jan Bautsch

4

1 reference

9 August 2017

Saskia Biskup

5

1 reference

9 August 2017

Thomas Brune

6

1 reference

9 August 2017

Jonas Denecke

7

1 reference

9 August 2017

Christine E de Die-Smulders

8

1 reference

9 August 2017

Christina Evers

9

1 reference

9 August 2017

Maja Hempel

10

1 reference

9 August 2017

Marco Henneke

11

1 reference

9 August 2017

Joachim Pietz

14

1 reference

9 August 2017

Doris Steinemann

17

1 reference

9 August 2017

Constance T Stumpel

18

1 reference

9 August 2017

language of work or name

1 reference

12 April 2015

1 reference

Orphanet Journal of Rare Diseases

9 August 2017

published in

1 reference

9 August 2017

volume

10

1 reference

9 August 2017

page(s)

44

1 reference

Creative Commons Attribution 4.0 International

9 August 2017

copyright license

start time

12 April 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Haploinsufficiency of ETV6 and CDKN1B in patients with acute myeloid leukemia and complex karyotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449965

Pontocerebellar hypoplasia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449965

Identification and glycerol-induced correction of misfolding mutations in the X-linked mental retardation gene CASK

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449965

A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449965

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449965

Phenotypic spectrum associated with CASK loss-of-function mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449965

Pontocerebellar hypoplasia type 3 with tetralogy of Fallot

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449965

Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449965

MAGUKs, synaptic development, and synaptic plasticity

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449965

Neuroradiologic features of CASK mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449965

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449965

Calcium/calmodulin-dependent serine protein kinase and mental retardation.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449965

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449965

A missense mutation in CASK causes FG syndrome in an Italian family

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449965

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449965

Unusual 8p inverted duplication deletion with telomere capture from 8q.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449965

CASK Functions as a Mg2+-independent neurexin kinase

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449965

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449965

The role of the MAGUK protein CASK in neural development and synaptic function.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449965

Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449965

Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449965

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449965

Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449965

Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449965

Studies of malformation syndromes of man XXXIII: The FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation

25 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS13023-015-0256-3

A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25886057

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25886057

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13023-015-0256-3

1 reference

Dimensions Publication ID

9 August 2017

0 references

1 reference

9 August 2017

1 reference