(Q33872321)

English

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

scientific article

In more languages

Statements

scholarly article

1 reference

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)

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

William B. Dobyns

29

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Kristina Lagerstedt Robinson

object named as

Kristina Lagerstedt Robinson

17

0 references

Ketil R. Heimdal

object named as

Ketil Heimdal

14

0 references

Christine Zeschnigk

2

object named as

Christine Zeschnigk

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

3

object named as

Denise Horn

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

author name string

Izak J Bisschoff

1

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Brigitte Wellek

4

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Angelika Rieß

5

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Maja Wessels

6

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Patrick Willems

7

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Peter Jensen

8

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Andreas Busche

9

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Jens Bekkebraten

10

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Maya Chopra

11

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Hanne Dahlgaard Hove

12

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Christina Evers

13

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Ann-Sophie Kaiser

15

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Erdmut Kunstmann

16

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Maja Linné

18

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Patricia Martin

19

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

James McGrath

20

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Winnie Pradel

21

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Katrina E Prescott

22

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Bernd Roesler

23

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Gorazd Rudolf

24

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Ulrike Siebers-Renelt

25

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Nataliya Tyshchenko

26

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Dagmar Wieczorek

27

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Gerhard Wolff

28

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Deborah J Morris-Rosendahl

30

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

publication date

17 October 2012

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

34

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

237-247

1 reference

Europe PubMed Central

PubMed publication ID

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

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

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

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

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

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

5 July 2018

Control of neuronal precursor proliferation in the cerebellum by Sonic Hedgehog

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 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

1 reference

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

21 January 2018

Oral–facial–digital syndromes: Review and diagnostic guidelines

1 reference

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

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q33872321&oldid=1698407783"