(Q52884485)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28370949%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

title

Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28370949%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

1 reference

Beemer-Langer syndrome

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28370949%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

author name string

Carolina A Moreno

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28370949%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Denise P Cavalcanti

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28370949%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

language of work or name

English

0 references

publication date

28 March 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28370949%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

15 March 2020

published in

1 reference

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15 March 2020

volume

173

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28370949%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28370949%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

page(s)

1186-1189

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28370949%20AND%20SRC:MED&resulttype=core&format=json

Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia

15 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38157

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38157

A new short rib syndrome: report of two cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38157

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38157

Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38157

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38157

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38157

Cloning and characterization of human WDR10, a novel gene located at 3q21 encoding a WD-repeat protein that is highly expressed in pituitary and testis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38157

Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38157

Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38157

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38157

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.38157

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28370949%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

1 reference