(Q21202859)

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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

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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 (English)

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based on heuristic

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Catherine Garel

3

object named as

Catherine Garel

author given names

Catherine

author last names

Garel

1 reference

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18 August 2022

object named as

Ginevra Zanni

6

author given names

Ginevra

author last names

Zanni

1 reference

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18 August 2022

object named as

Didier Lacombe

16

author given names

Didier

author last names

Lacombe

1 reference

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18 August 2022

object named as

Enrico Bertini

18

author given names

Enrico

author last names

Bertini

1 reference

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18 August 2022

object named as

Sabina Barresi

10

author given names

Sabina

author last names

Barresi

1 reference

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18 August 2022

object named as

Florence Petit

7

author given names

Florence

author last names

Petit

1 reference

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18 August 2022

Thierry Billette de Villemeur

20

object named as

Thierry Billette de Villemeur

author given names

Thierry

author last names

Billette de Villemeur

1 reference

Dimensions Publication ID

18 August 2022

Alexandra Afenjar

8

object named as

Alexandra Afenjar

author given names

Alexandra

author last names

Afenjar

1 reference

Dimensions Publication ID

18 August 2022

Vincent des Portes

17

author given names

Vincent

author last names

des Portes

object named as

Vincent des Portes

1 reference

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18 August 2022

Jean-Pierre Siffroi

19

author given names

Jean-Pierre

author last names

Siffroi

object named as

Jean-Pierre Siffroi

1 reference

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18 August 2022

Sandra Chantot-Bastaraud

2

author given names

Sandra

author last names

Chantot-Bastaraud

object named as

Sandra Chantot-Bastaraud

1 reference

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18 August 2022

author name string

Lydie Burglen

1

author given names

Lydie

author last names

Burglen

1 reference

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18 August 2022

Mathieu Milh

4

author given names

Mathieu

author last names

Milh

1 reference

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18 August 2022

Renaud Touraine

5

author given names

Renaud

author last names

Touraine

1 reference

Dimensions Publication ID

18 August 2022

Cyril Goizet

9

author given names

Cyril

author last names

Goizet

1 reference

Dimensions Publication ID

18 August 2022

Aurélie Coussement

11

author given names

Aurélie

author last names

Coussement

1 reference

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18 August 2022

Christine Ioos

12

author given names

Christine

author last names

Ioos

1 reference

Dimensions Publication ID

18 August 2022

Leila Lazaro

13

author given names

Leila

author last names

Lazaro

1 reference

Dimensions Publication ID

18 August 2022

Sylvie Joriot

14

author given names

Sylvie

author last names

Joriot

1 reference

Dimensions Publication ID

18 August 2022

Isabelle Desguerre

15

author given names

Isabelle

author last names

Desguerre

1 reference

Dimensions Publication ID

18 August 2022

Diana Rodriguez

21

author given names

Diana

author last names

Rodriguez

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18 August 2022

language of work or name

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publication date

2012

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Orphanet Journal of Rare Diseases

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7

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1

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18

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Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

19 March 2017

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

19 March 2017

TSEN54 mutations cause pontocerebellar hypoplasia type 5

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

12 September 2017

Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

12 September 2017

Neuroradiologic features of CASK mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

12 September 2017

Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

12 September 2017

Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

12 September 2017

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

12 September 2017

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

12 September 2017

Congenital disorders involving defective N-glycosylation of proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

12 September 2017

Pontocerebellar hypoplasia--how many types?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

12 September 2017

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

12 September 2017

Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

27 September 2017

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

30 May 2018

Phenotypic spectrum associated with CASK loss-of-function mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

30 May 2018

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

30 May 2018

Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

30 May 2018

A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

30 May 2018

Early fatal pontocerebellar hypoplasia in premature twin sisters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

30 May 2018

Pontocerebellar hypoplasia associated with respiratory-chain defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

30 May 2018

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

30 May 2018

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

29 November 2018

Early pontocerebellar hypoplasia with vanishing testes: A new syndrome?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

29 November 2018

TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

29 November 2018

Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

29 November 2018

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

29 November 2018

The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

29 November 2018

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

29 November 2018

A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

29 November 2018

Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

29 November 2018

Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351739

29 November 2018

Cerebellar and brainstem hypoplasia in a child with a partial monosomy for the short arm of chromosome 5 and partial trisomy for the short arm of chromosome 10

1 reference

https://pubmed.ncbi.nlm.nih.gov/22452838

12 December 2020

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10.1186/1750-1172-7-18

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Consolidated OpenCitations Corpus – April 2017

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OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

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