(Q36380533)

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A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

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1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance (English)

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

multiple epiphyseal dysplasia

1 reference

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inferred from title

object named as

Bassam R Ali

1

0 references

Joseph G Gleeson

4

object named as

Joseph G Gleeson

1 reference

Europe PubMed Central

13 August 2017

PMC publication ID

Lihadh Al-Gazali

5

object named as

Lihadh Al-Gazali

1 reference

Europe PubMed Central

13 August 2017

PMC publication ID

Jennifer L Silhavy

2

object named as

Jennifer L Silhavy

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

author name string

Nadia A Akawi

3

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

language of work or name

1 reference

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publication date

15 May 2012

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Orphanet Journal of Rare Diseases

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

7

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

27

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492204

30 September 2017

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492204

30 September 2017

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492204

30 September 2017

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492204

30 September 2017

The kinesin protein Kif7 is a critical regulator of Gli transcription factors in mammalian hedgehog signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492204

30 September 2017

Fused has evolved divergent roles in vertebrate Hedgehog signalling and motile ciliogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492204

30 September 2017

Hedgehog signaling in development and cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492204

30 September 2017

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492204

30 September 2017

Gli3 acts as a repressor downstream of Ihh in regulating two distinct steps of chondrocyte differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492204

30 September 2017

MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492204

30 September 2017

Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492204

30 September 2017

Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492204

30 September 2017

Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492204

30 September 2017

The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492204

30 September 2017

Further delineation of the acrocallosal syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492204

30 September 2017

HomozygosityMapper--an interactive approach to homozygosity mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492204

28 June 2018

KIF27 is one of orthologs for Drosophila Costal-2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492204

28 June 2018

Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492204

28 June 2018

Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-27

21 January 2018

Kif7 promotes hedgehog signaling in growth plate chondrocytes by restricting the inhibitory function of Sufu.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-27

21 January 2018

Impaired endochondral bone development and osteopenia in Gli2-deficient mice.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-27

21 January 2018

Cohen syndrome: fertility in a female patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/22587682

12 December 2020

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10.1186/1750-1172-7-27

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

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release_g72wovuogrbldesdautck55l3i

1 reference

https://api.fatcat.wiki/v0/release/g72wovuogrbldesdautck55l3i

24 November 2022

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PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

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