(Q34201186)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12774041%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

Mutations in PAX1 may be associated with Klippel-Feil syndrome (English)

1 reference

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4 November 2019

1

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4 November 2019

author name string

Oates A

2

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4 November 2019

Donnai D

3

1 reference

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4 November 2019

Read AP

4

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4 November 2019

Tassabehji M

5

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4 November 2019

publication date

1 June 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12774041%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

4 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12774041%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

volume

11

1 reference

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4 November 2019

issue

6

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4 November 2019

page(s)

468-474

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200987

4 November 2019

exact match

0 references

cites work

Getting your Pax straight: Pax proteins in development and disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200987

7 January 2021

Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200987

7 January 2021

PAX genes in human developmental anomalies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200987

7 January 2021

Evolution and role of Pax genes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200987

7 January 2021

undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200987

7 January 2021

splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200987

7 January 2021

Mouse small eye results from mutations in a paired-like homeobox-containing gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200987

7 January 2021

The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200987

7 January 2021

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200987

7 January 2021

The human PAX6 gene is mutated in two patients with aniridia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200987

7 January 2021

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200987

7 January 2021

Mutation of PAX2 in two siblings with renal-coloboma syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200987

7 January 2021

PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200987

7 January 2021

Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200987

7 January 2021

The molecular basis of the undulated/Pax-1 mutation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200987

7 January 2021

Pax1, a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ hybridization (ISH and FISH)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200987

7 January 2021

The Klippel-Feil syndrome: genetic and clinical reevaluation of cervical fusion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200987

7 January 2021

How neutral are synonymous codon mutations?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200987

7 January 2021

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200987

7 January 2021

PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200987

7 January 2021

The Klippel-Feil Anomalad as part of the fetal alcohol syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200987

7 January 2021

Valproic acid-induced somite teratogenesis in the chick embryo: relationship with Pax-1 gene expression

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200987

7 January 2021