Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome (Q48316050)

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scientific article published on 19 February 2011

Language	Label	Description	Also known as
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

Statements

scholarly article

1 reference

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

0 references

Isabella Ceccherini

object named as

Isabella Ceccherini

6

0 references

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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