(Q48316050)

English

Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome

scientific article published on 19 February 2011

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scholarly article

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Europe PubMed Central

PubMed publication ID

10 February 2018

http://europepmc.org/abstract/MED/21336852

Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

http://europepmc.org/abstract/MED/21336852

congenital central hypoventilation syndrome

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Isabella Ceccherini

object named as

Isabella Ceccherini

6

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author name string

Tiziana Bachetti

1

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

http://europepmc.org/abstract/MED/21336852

Sara Parodi

2

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

http://europepmc.org/abstract/MED/21336852

Marco Di Duca

3

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

http://europepmc.org/abstract/MED/21336852

Giuseppe Santamaria

4

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

http://europepmc.org/abstract/MED/21336852

Roberto Ravazzolo

5

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

http://europepmc.org/abstract/MED/21336852

publication date

19 February 2011

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

http://europepmc.org/abstract/MED/21336852

Journal of Molecular Medicine

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

http://europepmc.org/abstract/MED/21336852

89

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

http://europepmc.org/abstract/MED/21336852

5

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

http://europepmc.org/abstract/MED/21336852

505-513

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

http://europepmc.org/abstract/MED/21336852

An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management

1 reference

https://api.crossref.org/works/10.1007%2FS00109-010-0718-Y

21 January 2018

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00109-010-0718-Y

21 January 2018

Molecular analysis of congenital central hypoventilation syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00109-010-0718-Y

21 January 2018

PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00109-010-0718-Y

21 January 2018

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00109-010-0718-Y

21 January 2018

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction

1 reference

https://api.crossref.org/works/10.1007%2FS00109-010-0718-Y

21 January 2018

Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions

1 reference

https://api.crossref.org/works/10.1007%2FS00109-010-0718-Y

21 January 2018

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00109-010-0718-Y

21 January 2018

Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype

1 reference

https://api.crossref.org/works/10.1007%2FS00109-010-0718-Y

21 January 2018

Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00109-010-0718-Y

21 January 2018

PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00109-010-0718-Y

21 January 2018

Congenital central hypoventilation syndrome: genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation

1 reference

https://api.crossref.org/works/10.1007%2FS00109-010-0718-Y

21 January 2018

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.

1 reference

https://api.crossref.org/works/10.1007%2FS00109-010-0718-Y

21 January 2018

Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.

1 reference

https://api.crossref.org/works/10.1007%2FS00109-010-0718-Y

21 January 2018

Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation.

1 reference

https://api.crossref.org/works/10.1007%2FS00109-010-0718-Y

21 January 2018

The ARX mutations: a frequent cause of X-linked mental retardation.

1 reference

https://api.crossref.org/works/10.1007%2FS00109-010-0718-Y

21 January 2018

Polyalanine expansions might not result from unequal crossing-over

1 reference

https://api.crossref.org/works/10.1007%2FS00109-010-0718-Y

21 January 2018

A novel de novo 27 bp duplication of theARXgene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations

1 reference

https://api.crossref.org/works/10.1007%2FS00109-010-0718-Y

21 January 2018

Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b

1 reference

https://pubmed.ncbi.nlm.nih.gov/21336852

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21336852

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/21336852

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00109-010-0718-Y

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

http://europepmc.org/abstract/MED/21336852

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

10 February 2018

http://europepmc.org/abstract/MED/21336852

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