(Q39849276)

15 September 2017

title

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients (English)

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15 September 2017

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Valeria Novelli

3

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Brunella Franco

object named as

Brunella Franco

6

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author name string

Clelia Prattichizzo

1

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15 September 2017

Marina Macca

2

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15 September 2017

Giovanna Giorgio

4

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15 September 2017

Adriano Barra

5

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15 September 2017

Oral-Facial-Digital Type I (OFDI) Collaborative Group

7

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15 September 2017

language of work or name

1 reference

1 October 2008

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15 September 2017

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15 September 2017

volume

29

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15 September 2017

issue

10

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15 September 2017

page(s)

1237-1246

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The Ciliopathies: An Emerging Class of Human Genetic Disorders

15 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

The roles of cilia in developmental disorders and disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

X-inactivation profile reveals extensive variability in X-linked gene expression in females

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

Sporadic orofaciodigital syndrome type I presenting as end-stage renal disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

Standardizing mutation nomenclature: why bother?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

Identification of the gene for oral-facial-digital type I syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

X-inactivation and human disease: X-linked dominant male-lethal disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

Oral-facial-digital syndrome type I in a newborn male

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

A male with type I orofaciodigital syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

Orodigitofacial dysostosis--a new syndrome. A study of 22 cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

Oral–facial–digital syndromes: Review and diagnostic guidelines

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

Exonucleolytic proofreading during replication of repetitive DNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

Variability of expression of the orofaciodigital syndrome type I in black females: six cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

X-linked dominant inherited diseases with lethality in hemizygous males

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20792

7 January 2021

Identifiers

DOI

10.1002/HUMU.20792

1 reference

15 September 2017

1 reference