(Q55053395)

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

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scholarly article

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Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/2963649

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

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/2963649

0 references

oral-facial-digital syndrome

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Shilpa Chetty-John

1

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/2963649

Katie Piwnica-Worms

2

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/2963649

Joy Bryant

3

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/2963649

Isa Bernardini

4

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/2963649

Roxanne E Fischer

5

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/2963649

Theo Heller

6

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/2963649

William A Gahl

7

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/2963649

Meral Gunay-Aygun

8

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/2963649

language of work or name

0 references

publication date

1 October 2010

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/2963649

American Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/2963649

152A

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/2963649

10

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/2963649

2640-2645

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/2963649

Liver and kidney disease in ciliopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963649

16 June 2018

Renal insufficiency, a frequent complication with age in 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=2963649

16 June 2018

Cholangiociliopathies: genetics, molecular mechanisms and potential therapies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963649

16 June 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=2963649

16 June 2018

When cilia go bad: cilia defects and ciliopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963649

16 June 2018

Normal values for renal length and volume as measured by magnetic resonance imaging.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963649

16 June 2018

Role of primary cilia in the pathogenesis of polycystic kidney disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963649

16 June 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=2963649

16 June 2018

Oral-facial-digital syndrome type 1, Caroli's disease and cystic renal disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963649

16 June 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=2963649

16 June 2018

Long-term follow-up of a girl with oro-facio-digital syndrome type I due to a mutation in the OFD 1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963649

16 June 2018

Evaluation of a patient with hypertension and mild renal failure in whom facial and digital abnormalities are noted

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963649

16 June 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=2963649

16 June 2018

Ludwig symposium on biliary disorders--part I. Pathogenesis of ductal plate abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963649

16 June 2018

Oral-facial-digital syndrome type 1 coexisting with polycystic kidney disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963649

16 June 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=2963649

16 June 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=2963649

16 June 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=2963649

16 June 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=2963649

16 June 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=2963649

16 June 2018

Polycystic kidneys, pancreatic cysts, and cystadenomatous bile ducts in the 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=2963649

16 June 2018

Renal cystic disease associated with orofaciodigital syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963649

16 June 2018

Polycystic kidney disease in a patient with the 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=2963649

16 June 2018

Accumulation of normeperidine, an active metabolite of meperidine, in patients with renal failure of cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963649

16 June 2018

Congenital hepatic fibrosis: the long-term prognosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963649

16 June 2018

Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963649

13 August 2018

[The oro-facial-digital syndrome. Symptoms and prognosis]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963649

30 November 2018

The hypertensive young lady with renal cysts--it is not always polycystic kidney disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20818665

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered

1 reference

https://pubmed.ncbi.nlm.nih.gov/20818665

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20818665

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20818665

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/20818665

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Volume progression in polycystic kidney disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20818665

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJMG.A.33666

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/2963649

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/2963649

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/2963649

ResearchGate publication ID

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