(Q55618076)

18 July 2018

title

Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible? (English)

1 reference

18 July 2018

0 references

8

1 reference

18 July 2018

William B. Dobyns

9

1 reference

18 July 2018

author name string

John M Graham

1

1 reference

18 July 2018

Andrew H Spencer

2

1 reference

18 July 2018

Inessa Grinberg

3

1 reference

18 July 2018

Charles E Niesen

4

1 reference

18 July 2018

Lawrence D Platt

5

1 reference

18 July 2018

Marcel Maya

6

1 reference

18 July 2018

Yasmin Namavar

7

1 reference

18 July 2018

language of work or name

English

0 references

publication date

1 September 2010

1 reference

18 July 2018

American Journal of Medical Genetics

published in

1 reference

18 July 2018

volume

152A

1 reference

18 July 2018

issue

9

1 reference

18 July 2018

page(s)

2268-2276

1 reference

18 July 2018

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

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

A mild variant of pontocerebellar hypoplasia type 1 in a 12-year-old Indian boy.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

Progress on pontocerebellar hypoplasia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

Pontocerebellar hypoplasia type 2: a neuropathological update.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

Sonographic maturation of third-trimester cerebellar foliation after birth

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

Pontocerebellar hypoplasia type 2 (PCH2): report of two siblings

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

Two cases of pontocerebellar hypoplasia: ethical and prenatal diagnostic dilemma.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

Normal and abnormal anatomy of the cerebellar vermis in midgestational human fetuses

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

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

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

In utero tractography of fetal white matter development.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

Preterm birth and disruptive cerebellar development: assessment of perinatal risk factors

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

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

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

Cerebellum-small brain but large confusion: a review of selected cerebellar malformations and disruptions.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

Fetal transcerebellar diameter nomogram in singleton gestations with special emphasis in the third trimester: a comparison with previously published nomograms

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

Early fatal pontocerebellar hypoplasia in premature twin sisters

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

Prenatal measurement of the fetal cerebellum and cisterna cerebellomedullaris by ultrasound.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931360

Intrauterine growth retardation and fetal transverse cerebellar diameter

12 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20803644

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Pontoneocerebellar hypoplasia: definition of MR features

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20803644

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.33579

1 reference

18 July 2018

PMCID

2931360

1 reference

18 July 2018

PubMed ID

20803644

1 reference

18 July 2018