(Q33872321)

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Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability

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Europe PubMed Central

PubMed publication ID

29 July 2017

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability (English)

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29 July 2017

William B. Dobyns

29

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29 July 2017

Kristina Lagerstedt Robinson

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Kristina Lagerstedt Robinson

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Ketil R. Heimdal

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Ketil Heimdal

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Christine Zeschnigk

2

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Christine Zeschnigk

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29 July 2017

3

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Denise Horn

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11

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Maya Chopra

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Izak J Bisschoff

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Brigitte Wellek

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Angelika Rieß

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Maja Wessels

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Patrick Willems

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Peter Jensen

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Andreas Busche

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Jens Bekkebraten

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Hanne Dahlgaard Hove

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Christina Evers

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Ann-Sophie Kaiser

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Erdmut Kunstmann

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Maja Linné

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Patricia Martin

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James McGrath

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Winnie Pradel

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Katrina E Prescott

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Bernd Roesler

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Gorazd Rudolf

24

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Ulrike Siebers-Renelt

25

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Nataliya Tyshchenko

26

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Dagmar Wieczorek

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Gerhard Wolff

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Deborah J Morris-Rosendahl

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publication date

17 October 2012

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34

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1

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237-247

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29 July 2017

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Ofd1 is required in limb bud patterning and endochondral bone development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Functional modules, mutational load and human genetic disease

1 reference

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5 July 2018

Structural abnormalities of the brain other than molar tooth sign in 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=5497464

5 July 2018

The role of primary cilia in neuronal function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Centrioles, centrosomes, and cilia in health and disease

1 reference

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5 July 2018

The molecular basis of oral-facial-digital syndrome, type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Bardet-biedl syndrome and brain abnormalities.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Piecing together a ciliome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

PDGFRalphaalpha signaling is regulated through the primary cilium in fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

The developmental biology of Dishevelled: an enigmatic protein governing cell fate and cell polarity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Hedgehog signalling in the mouse requires intraflagellar transport proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

A first-generation X-inactivation profile of the human X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Polymorphic X-chromosome inactivation of the human TIMP1 gene.

1 reference

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5 July 2018

Control of neuronal precursor proliferation in the cerebellum by Sonic Hedgehog

1 reference

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5 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Oral-facial-digital syndrome type I: an unusual cause of hereditary cystic kidney disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Oral-facial-digital syndromes, 1992.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Cystic kidneys in a patient with oral-facial-digital syndrome type I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Hydrocephalus and primary ciliary dyskinesia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Neuropathology of oral-facial-digital syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Hydrocephalus, bronchiectasis, and ciliary aplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5497464

5 July 2018

Fibrocystic disease of liver and pancreas; under‐recognized features of the X‐linked ciliopathy oral‐facial‐digital syndrome type 1 (OFD I)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22224

21 January 2018

Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22224

21 January 2018

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22224

21 January 2018

Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22224

21 January 2018

Cerebral dysgenesis does not exclude OFD I syndrome

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https://api.crossref.org/works/10.1002%2FHUMU.22224

21 January 2018

Oral–facial–digital syndromes: Review and diagnostic guidelines

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https://api.crossref.org/works/10.1002%2FHUMU.22224

21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23033313

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant polycystic kidney disease: recent advances in pathogenesis and treatment

1 reference

https://pubmed.ncbi.nlm.nih.gov/23033313

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Hereditary abnormality of the buccal mucosa: abnormal bands and frenula.]

1 reference

https://pubmed.ncbi.nlm.nih.gov/23033313

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Are the oral-facial-digital syndromes ciliopathies?

1 reference

https://pubmed.ncbi.nlm.nih.gov/23033313

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hydrocephalus in Kartagener's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23033313

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.22224

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

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