Liver and kidney disease in ciliopathies (Q24633724)

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Europe PubMed Central

title

Liver and kidney disease in ciliopathies (English)

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1 reference

Meral Gunay-Aygun

1

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language of work or name

English

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publication date

15 November 2009

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published in

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volume

151C

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page(s)

296-306

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issue

4

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cites work

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Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

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Mutations in SEC63 cause autosomal dominant polycystic liver disease

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Nephronophthisis: disease mechanisms of a ciliopathy

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Polycystic kidney disease

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

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Caroli's syndrome and adult polycystic kidney disease

27 September 2017

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Imaging findings in congenital hepatic fibrosis

27 September 2017

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Polycystic liver disease: multimodality imaging for complications and transplant evaluation

27 September 2017

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Renal cystic disease: new insights for the clinician

27 September 2017

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Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference

27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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Polycystic liver disease is a disorder of cotranslational protein processing.

27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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

27 September 2017

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Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender. Arbeitsgemeinschaft für Pädiatrische, Nephrologie

27 September 2017

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Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.

27 September 2017

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Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders

27 September 2017

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Hepatic involvement in the Bardet-Biedl syndrome

27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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30 May 2018

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Autosomal Recessive Polycystic Kidney Disease: The Clinical Experience in North America

28 November 2018

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Autosomal recessive polycystic kidney disease: outcomes from a single-center experience.

28 November 2018

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Autosomal recessive polycystic kidney disease in adulthood

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Renal lesion in Jeune's syndrome.

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Autosomal Dominant Polycystic Kidney Disease Types 1 and 2: Assessment of US Sensitivity for Diagnosis

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12 December 2020

Jeune syndrome and liver disease: report of three cases treated with ursodeoxycholic acid

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Renal-hepatic-pancreatic dysplasia: a broad entity

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A family with Jeune syndrome

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The Position of the Polycystic Kidney Disease 1 (PKD1) Gene Mutation Correlates with the Severity of Renal Disease

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Polycystic liver disease is genetically heterogeneous: clinical and linkage studies in eight Finnish families

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A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees

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12 December 2020

Polycystic kidney disease

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12 December 2020

Congenital hepatic fibrosis in children

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Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered

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The importance of renal impairment in the natural history of Bardet-Biedl syndrome

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Autosomal dominant polycystic kidney disease: a two-hit model

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12 December 2020

Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors

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12 December 2020

Congenital hepatic fibrosis

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12 December 2020

PATHOGENESIS OF POLYCYSTIC KIDNEYS. HISTORICAL SURVEY

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12 December 2020

Management of polycystic liver disease

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12 December 2020

Predominant extrahepatic biliary disease in autosomal recessive polycystic kidney disease: a new association

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12 December 2020

Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease

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12 December 2020

Magnetic resonance imaging evaluation of hepatic cysts in early autosomal-dominant polycystic kidney disease: the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease cohort

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12 December 2020

Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: a multicenter study

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12 December 2020

The ductal plate malformation

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12 December 2020

Association of carcinoma with congenital cystic conditions of the liver and bile ducts

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12 December 2020

Spectrum of anomalies in the Meckel syndrome, or: "Maybe there is a malformation syndrome with at least one constant anomaly"

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12 December 2020

Postnatal investigation of fetal renal disease

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12 December 2020

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.C.30225

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1002/AJMG.C.30225

1 reference

4831521

4831521

1 reference

1 reference

1 reference